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
PTPRH	5794	broad.mit.edu	37	19	55696967	55696967	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr19:55696967C>A	ENST00000376350.3	-	18	2987	c.2965G>T	c.(2965-2967)Gtt>Ttt	p.V989F	PTPRH_ENST00000263434.5_Missense_Mutation_p.V811F	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	989	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GAGGAGGGAACGCCGTGATCC	0.607000													17	37					3.32936e-07	4.24068e-07	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21658759	21658759	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr7:21658759G>C	ENST00000328843.6	+	24	4342	c.4311G>C	c.(4309-4311)ttG>ttC	p.L1437F	DNAH11_ENST00000465593.1_3'UTR|DNAH11_ENST00000409508.3_Missense_Mutation_p.L1432F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1437	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGGCAGATTTGTTAGCACTGC	0.443000									Kartagener syndrome				9	36					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33577118	33577118	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr5:33577118G>T	ENST00000504830.1	-	19	3348	c.3013C>A	c.(3013-3015)Cca>Aca	p.P1005T	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P920T	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1005	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCTTTGTTTGGTTTCAGAACT	0.532000										HNSCC(64;0.19)			132	187					3.48894e-57	6.51144e-57	1	1	0
ARSG	22901	broad.mit.edu	37	17	66343280	66343280	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr17:66343280G>T	ENST00000448504.2	+	4	1217	c.421G>T	c.(421-423)Gga>Tga	p.G141*	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_5'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	141					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATGGCATCTTGGACACCACGG	0.463000													25	48					1.5548e-18	2.55955e-18	1	1	0
PCDHA11	56138	broad.mit.edu	37	5	140250843	140250843	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr5:140250843G>A	ENST00000398640.2	+	1	2155	c.2155G>A	c.(2155-2157)Gcg>Acg	p.A719T	PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGTATACGGCGCTGTGGTG	0.672000													17	38					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21255365	21255365	+	Missense_Mutation	SNP	G	G	T	rs61745113		TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:21255365G>T	ENST00000233242.1	-	10	1340	c.1213C>A	c.(1213-1215)Ccc>Acc	p.P405T	APOB_ENST00000399256.4_Missense_Mutation_p.P405T	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	405	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATCAGAAGGGGGTTGGCATGC	0.567000													13	66					5.50884e-06	6.56172e-06	1	1	0
ARID1A	8289	broad.mit.edu	37	1	27092812	27092812	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:27092812G>T	ENST00000324856.7	+	9	3204	c.2833G>T	c.(2833-2835)Gga>Tga	p.G945*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.G945*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.G562*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	945					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAACCCTCAGGGACCCCCATA	0.493000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								11	80					1.08611e-07	1.41437e-07	1	1	0
RC3H1	149041	broad.mit.edu	37	1	173941763	173941763	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:173941763C>A	ENST00000367696.2	-	8	1456	c.1105G>T	c.(1105-1107)Gct>Tct	p.A369S	RC3H1_ENST00000367694.2_Missense_Mutation_p.A369S|RC3H1_ENST00000258349.4_Missense_Mutation_p.A369S			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	369					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GGAGGAGGAGCATCTATACAA	0.368000													18	74					1.99824e-07	2.58291e-07	1	1	0
LRRC3B	116135	broad.mit.edu	37	3	26751682	26751682	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr3:26751682A>T	ENST00000396641.2	+	2	1111	c.519A>T	c.(517-519)aaA>aaT	p.K173N	LRRC3B_ENST00000456208.2_Missense_Mutation_p.K173N|LRRC3B_ENST00000417744.1_Missense_Mutation_p.K173N	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	173	LRRCT.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TGATCTGTAAAACGTCCGTGT	0.502000													10	23					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45473548	45473548	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr14:45473548G>T	ENST00000361462.2	+	4	2806	c.2623G>T	c.(2623-2625)Gat>Tat	p.D875Y	FAM179B_ENST00000361577.3_Missense_Mutation_p.D875Y|KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000382233.2_Missense_Mutation_p.D875Y			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	875							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AAAATCGTCTGATCCTACGGG	0.353000													13	37					9.31168e-06	1.10162e-05	1	1	0
TRPS1	7227	broad.mit.edu	37	8	116427059	116427059	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr8:116427059C>A	ENST00000395715.3	-	7	3654	c.3077G>T	c.(3076-3078)aGc>aTc	p.S1026I	TRPS1_ENST00000519076.1_Missense_Mutation_p.S767I|TRPS1_ENST00000520276.1_Missense_Mutation_p.S1017I|TRPS1_ENST00000220888.5_Missense_Mutation_p.S1013I	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1013	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGCAGAATGGCTTTTAGTCAA	0.443000									Langer-Giedion syndrome				56	92					1.11015e-26	1.95678e-26	1	1	0
ROR2	4920	broad.mit.edu	37	9	94485994	94485994	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr9:94485994C>A	ENST00000375708.3	-	9	2980	c.2782G>T	c.(2782-2784)Gac>Tac	p.D928Y	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	928					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTGTCACAGTCCCCCAGCAGC	0.642000													17	72					9.16793e-09	1.24985e-08	1	1	0
PVRL4	81607	broad.mit.edu	37	1	161049571	161049571	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:161049571T>A	ENST00000368012.3	-	2	550	c.248A>T	c.(247-249)cAc>cTc	p.H83L		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	83	Ig-like V-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GTATTTGGAGTGCAGTAGCGC	0.687000													18	73					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43784954	43784954	+	Missense_Mutation	SNP	C	C	G	rs45475401	byFrequency	TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:43784954C>G	ENST00000372476.3	+	18	3050	c.2971C>G	c.(2971-2973)Cta>Gta	p.L991V	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.L636V	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	991	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGGAGAGAACCTAGCCTCCAA	0.562000													25	88					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139272247	139272247	+	Silent	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr9:139272247C>T	ENST00000298532.2	-	21	4400	c.4032G>A	c.(4030-4032)ctG>ctA	p.L1344L		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	1344	SNAPC2-binding.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GTGAGGCTTGCAGTGCTCCGG	0.701000													11	37					0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5687126	5687126	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr4:5687126C>A	ENST00000310917.2	-	6	1278	c.547G>T	c.(547-549)Gcc>Tcc	p.A183S	EVC2_ENST00000344408.5_Missense_Mutation_p.A263S|EVC2_ENST00000344938.1_Missense_Mutation_p.A263S	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	263						integral to membrane		p.A263S(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GTGAGTTGGGCAGGAAGCTTG	0.527000													13	98					5.50884e-06	6.56172e-06	1	1	0
OR1S1	219959	broad.mit.edu	37	11	57982753	57982753	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr11:57982753G>C	ENST00000309433.6	+	1	537	c.537G>C	c.(535-537)ttG>ttC	p.L179F		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TCATTCAATTGCTCTTCTGTA	0.458000													52	112					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8485990	8485990	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr9:8485990C>A	ENST00000381196.4	-	25	3370	c.2827G>T	c.(2827-2829)Gtc>Ttc	p.V943F	PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.V921F|PTPRD_ENST00000356435.5_Missense_Mutation_p.V943F|PTPRD_ENST00000540109.1_Missense_Mutation_p.V943F|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.V930F|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000471274.1_5'UTR	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	943	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCTGCCAGGACAGGTGGTTGC	0.473000										TSP Lung(15;0.13)			14	98					2.61681e-11	3.83726e-11	1	1	0
PHEX	5251	broad.mit.edu	37	X	22244622	22244622	+	Silent	SNP	T	T	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chrX:22244622T>C	ENST00000379374.4	+	19	2527	c.1962T>C	c.(1960-1962)ttT>ttC	p.F654F	PHEX_ENST00000418858.3_Silent_p.F357F|PHEX_ENST00000535894.1_Silent_p.F557F|PHEX_ENST00000537599.1_Silent_p.F654F	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	654					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GGGAAGCTTTTAGGGTATGCG	0.418000													36	50					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190423854	190423854	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:190423854C>A	ENST00000367462.3	-	2	398	c.167G>T	c.(166-168)cGc>cTc	p.R56L	FAM5C_ENST00000534846.1_Missense_Mutation_p.A18S|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		56						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTCCTGTGAGCGATGGAAGGG	0.478000													11	48					3.07112e-06	3.70872e-06	1	1	0
SAGE1	55511	broad.mit.edu	37	X	134994545	134994545	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chrX:134994545G>T	ENST00000535938.1	+	19	2754	c.2587G>T	c.(2587-2589)Gtt>Ttt	p.V863F	SAGE1_ENST00000324447.3_Missense_Mutation_p.V863F|SAGE1_ENST00000537770.1_Missense_Mutation_p.V487F|SAGE1_ENST00000370709.3_Missense_Mutation_p.V863F	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	863										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GAGACAATTTGTTGAATTTAC	0.343000													29	44					3.57733e-08	4.82042e-08	1	1	0
PSG7	5676	broad.mit.edu	37	19	43439730	43439730	+	RNA	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr19:43439730C>A	ENST00000406070.2	-	0	352				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				ATTATTTGACCGTCTACTATA	0.423000													207	272					2.56677e-94	4.81615e-94	1	1	0
SCN7A	6332	broad.mit.edu	37	2	167279815	167279815	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:167279815G>T	ENST00000409855.1	-	18	3107	c.2981C>A	c.(2980-2982)gCc>gAc	p.A994D		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	994					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGAGAAATAGGCCTTAAAACC	0.318000													6	53					0.0293803	0.0305171	1	1	0
FCRL6	343413	broad.mit.edu	37	1	159779229	159779229	+	Silent	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:159779229G>T	ENST00000321935.6	+	6	749	c.663G>T	c.(661-663)ggG>ggT	p.G221G	FCRL6_ENST00000392235.3_Silent_p.G119G|FCRL6_ENST00000368106.3_Silent_p.G214G|FCRL6_ENST00000339348.5_Silent_p.G214G			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	214	Ig-like C2-type 3.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					TGCACCACGGGCCTGCTGACC	0.622000													15	68					2.31682e-05	2.72246e-05	1	1	0
CHD5	26038	broad.mit.edu	37	1	6169915	6169915	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:6169915G>T	ENST00000262450.3	-	38	5617	c.5518C>A	c.(5518-5520)Cag>Aag	p.Q1840K	CHD5_ENST00000378021.1_Missense_Mutation_p.Q697K	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1840					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.Q1840K(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GACAGGTGCTGGTGGCTCTCG	0.682000													31	79					3.80469e-20	6.35329e-20	1	1	0
SAMSN1	64092	broad.mit.edu	37	21	15882670	15882670	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr21:15882670G>C	ENST00000285670.2	-	6	900	c.726C>G	c.(724-726)ttC>ttG	p.F242L	SAMSN1_ENST00000400566.1_Missense_Mutation_p.F174L|SAMSN1_ENST00000400564.1_Intron	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	174	SAM.				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GACTTGGCGTGAAATCCGTAT	0.488000													12	93					0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938455	2938455	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:2938455C>A	ENST00000378404.2	+	1	410	c.205C>A	c.(205-207)Ctg>Atg	p.L69M		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	69						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GCAGGAGGCCCTGCAGCTGCA	0.597000													21	59					1.50039e-11	2.2188e-11	1	1	0
COL6A3	1293	broad.mit.edu	37	2	238247687	238247687	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:238247687C>A	ENST00000295550.4	-	39	8990	c.8538G>T	c.(8536-8538)aaG>aaT	p.K2846N	COL6A3_ENST00000353578.4_Missense_Mutation_p.K2640N|COL6A3_ENST00000346358.4_Missense_Mutation_p.K2646N|COL6A3_ENST00000409809.1_Missense_Mutation_p.K2640N|COL6A3_ENST00000347401.3_Missense_Mutation_p.K2645N|COL6A3_ENST00000472056.1_Missense_Mutation_p.K2239N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2846	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCACAAGGTTCTTTGTGGGTT	0.393000													6	45					1.06961e-07	1.40336e-07	1	1	0
IGKV3D-11	28876	broad.mit.edu	37	2	90212219	90212219	+	RNA	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:90212219C>A	ENST00000390277.2	+	0	408																											GAAGATTTTGCAGTTTATTAC	0.493000													13	81					6.72482e-11	9.73844e-11	1	1	0
PTPN13	5783	broad.mit.edu	37	4	87653869	87653869	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr4:87653869C>A	ENST00000436978.1	+	12	2288	c.1808C>A	c.(1807-1809)gCa>gAa	p.A603E	PTPN13_ENST00000411767.2_Missense_Mutation_p.A603E|PTPN13_ENST00000511467.1_Missense_Mutation_p.A603E|PTPN13_ENST00000427191.2_Missense_Mutation_p.A603E|PTPN13_ENST00000316707.6_Missense_Mutation_p.A603E	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	603	FERM.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ATGGTTGTGGCACATATTGGC	0.368000													6	46					0.00198382	0.00217038	1	1	0
PIK3C2G	5288	broad.mit.edu	37	12	18715656	18715656	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr12:18715656G>T	ENST00000433979.1	+	26	3603	c.3487G>T	c.(3487-3489)Gag>Tag	p.E1163*	PIK3C2G_ENST00000538779.1_Nonsense_Mutation_p.E1204*|PIK3C2G_ENST00000266497.5_Nonsense_Mutation_p.E1163*	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1163	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.E1163*(4)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GGAAAGTCTGGAGTGTTTCCC	0.378000													3	11					0.004672	0.00503249	1	1	0
OR1L4	254973	broad.mit.edu	37	9	125486859	125486859	+	Silent	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr9:125486859G>A	ENST00000259466.1	+	1	591	c.591G>A	c.(589-591)caG>caA	p.Q197Q		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CCTCCAGCCAGATGGTGGTGA	0.502000													41	313					0	0	1	0	0
CXorf66	347487	broad.mit.edu	37	X	139038792	139038792	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chrX:139038792C>T	ENST00000370540.1	-	3	372	c.349G>A	c.(349-351)Gac>Aac	p.D117N		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	117	Ser-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GATGACTTGTCTGCAGTAGAT	0.438000													44	69					0	0	1	0	0
RELL2	285613	broad.mit.edu	37	5	141019127	141019127	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr5:141019127C>G	ENST00000297164.3	+	4	1614	c.414C>G	c.(412-414)agC>agG	p.S138R	FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000435817.2_3'UTR|RELL2_ENST00000444782.1_Missense_Mutation_p.S138R|RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000518856.1_Missense_Mutation_p.S72R|RELL2_ENST00000521367.1_Missense_Mutation_p.S72R	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	138						integral to membrane|plasma membrane				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCCGCAGCAAGAGGCCTC	0.647000													9	29					0	0	1	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401266	11401266	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr4:11401266C>A	ENST00000002596.5	-	2	1538	c.364G>T	c.(364-366)Gcg>Tcg	p.A122S		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	122						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GTGAAATACGCGGGGGTCTTC	0.612000													22	75					2.32416e-17	3.7727e-17	1	1	0
LRP2	4036	broad.mit.edu	37	2	170103224	170103224	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:170103224C>A	ENST00000263816.3	-	21	3466	c.3181G>T	c.(3181-3183)Ggc>Tgc	p.G1061C	LRP2_ENST00000443831.1_Missense_Mutation_p.G924C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1061	LDL-receptor class A 8.				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)	CTAAGTGTGCCACATAGTTGC	0.388000													48	210					3.68337e-26	6.45978e-26	1	1	0
C2orf16	84226	broad.mit.edu	37	2	27800941	27800941	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:27800941T>A	ENST00000408964.2	+	1	1553	c.1502T>A	c.(1501-1503)gTa>gAa	p.V501E		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	501										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCTGAAGAGGTAATCCTCATA	0.438000													18	70					0	0	1	0	0
ZMAT5	55954	broad.mit.edu	37	22	30136684	30136684	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr22:30136684G>A	ENST00000397781.3	-	5	476	c.226C>T	c.(226-228)Cac>Tac	p.H76Y	ZMAT5_ENST00000344318.3_Missense_Mutation_p.H76Y	NM_019103.2	NP_061976.1	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin-type 5	76					mRNA processing	cytoplasm|U12-type spliceosomal complex	nucleic acid binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			TCTGACATGTGGGAAAATCTG	0.642000													3	14					0	0	1	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33017743	33017743	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr13:33017743C>A	ENST00000357505.6	-	7	990	c.886G>T	c.(886-888)Gac>Tac	p.D296Y	N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.D311Y|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000504114.1_Missense_Mutation_p.D296Y	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GCAGAAAGGTCCTGGGTGTCT	0.393000													8	17					3.09899e-07	3.97627e-07	1	1	0
ZNF648	127665	broad.mit.edu	37	1	182026466	182026466	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:182026466G>C	ENST00000339948.3	-	2	887	c.680C>G	c.(679-681)gCg>gGg	p.A227G		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GCTGTTCCGCGCTTTTGCCAG	0.701000													4	18					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40630520	40630520	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr21:40630520A>G	ENST00000342449.3	-	18	2042	c.1964T>C	c.(1963-1965)cTt>cCt	p.L655P	BRWD1_ENST00000380800.3_Missense_Mutation_p.L655P|BRWD1_ENST00000333229.2_Missense_Mutation_p.L655P	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	655					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CATTCCATCAAGAATACTCGA	0.393000													42	72					0	0	1	0	0
COL26A1	136227	broad.mit.edu	37	7	101200769	101200769	+	RNA	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr7:101200769C>T	ENST00000313669.7	+	0	1474				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		TGGGCCCGACCCTGGACAGAA	0.647000													6	45					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72925073	72925073	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr7:72925073C>A	ENST00000339594.4	-	2	555	c.217G>T	c.(217-219)Gct>Tct	p.A73S	BAZ1B_ENST00000404251.1_Missense_Mutation_p.A73S	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	73	Mediates the tyrosine-protein kinase activity.|WAC.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TACAGCTCAGCAACTTCCTGT	0.448000													40	148					2.6416e-12	4.00834e-12	1	1	0
DSC2	1824	broad.mit.edu	37	18	28649018	28649018	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr18:28649018T>A	ENST00000280904.6	-	15	2793	c.2350A>T	c.(2350-2352)Atc>Ttc	p.I784F	DSC2_ENST00000251081.6_Missense_Mutation_p.I784F	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	784					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ACCATTTCGATGGTCTCCTGA	0.582000													11	50					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16254253	16254253	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr3:16254253G>T	ENST00000339732.5	+	6	1878	c.1375G>T	c.(1375-1377)Gcc>Tcc	p.A459S	GALNT15_ENST00000437509.1_Missense_Mutation_p.A459S	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		TAGCCCAGAGGCCTTCTCCTT	0.587000													9	63					0.00448238	0.00485823	1	1	0
TRPM6	140803	broad.mit.edu	37	9	77377481	77377481	+	Missense_Mutation	SNP	A	A	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr9:77377481A>C	ENST00000451710.3	-	26	4343	c.4106T>G	c.(4105-4107)gTg>gGg	p.V1369G	TRPM6_ENST00000449912.2_Missense_Mutation_p.V1364G|TRPM6_ENST00000360774.1_Missense_Mutation_p.V1369G|TRPM6_ENST00000376864.4_Missense_Mutation_p.V1369G|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.V1364G|TRPM6_ENST00000376871.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1369					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CACATCTGGCACAGAGGGTCT	0.502000													33	152					0	0	1	0	0
RASA1	5921	broad.mit.edu	37	5	86672758	86672758	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr5:86672758C>T	ENST00000456692.2	+	17	1829	c.1714C>T	c.(1714-1716)Cga>Tga	p.R572*	RASA1_ENST00000274376.6_Nonsense_Mutation_p.R749*|RASA1_ENST00000512763.1_Nonsense_Mutation_p.R582*|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000506290.1_Nonsense_Mutation_p.R583*	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	749	PH.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TGGACAAGACCGAACACTACT	0.368000													25	61					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175365809	175365809	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:175365809G>T	ENST00000367674.1	-	5	1819	c.1111C>A	c.(1111-1113)Cag>Aag	p.Q371K	TNR_ENST00000263525.2_Missense_Mutation_p.Q371K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	371	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGCACCCGCTGCTGGAGCTGG	0.597000													22	84					3.76869e-24	6.54365e-24	1	1	0
TPRX1	284355	broad.mit.edu	37	19	48305603	48305603	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr19:48305603G>A	ENST00000535759.1	-	4	955	c.956C>T	c.(955-957)cCg>cTg	p.P319L	TPRX1_ENST00000543508.1_Missense_Mutation_p.P212L|TPRX1_ENST00000322175.3_Missense_Mutation_p.P222L			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	222	Gly-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P222L(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		gcctgggatcgggcctgggtt	0.667000													2	1					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152322278	152322278	+	Missense_Mutation	SNP	G	G	C	rs151186812		TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:152322278G>C	ENST00000243326.4	+	29	6727	c.6244G>C	c.(6244-6246)Gct>Cct	p.A2082P	RIF1_ENST00000430328.2_Missense_Mutation_p.A2082P|RIF1_ENST00000444746.2_Missense_Mutation_p.A2082P|RIF1_ENST00000453091.2_Missense_Mutation_p.A2082P|RIF1_ENST00000428287.2_Missense_Mutation_p.A2082P			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	2082	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AATCATTGACGCTAATAAAAC	0.338000													9	55					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102376391	102376391	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr6:102376391G>A	ENST00000369138.1	+	13	2459	c.1969G>A	c.(1969-1971)Gcc>Acc	p.A657T	GRIK2_ENST00000421544.1_Missense_Mutation_p.A657T|GRIK2_ENST00000369134.4_Missense_Mutation_p.A608T|GRIK2_ENST00000318991.6_Missense_Mutation_p.A657T|GRIK2_ENST00000413795.1_Missense_Mutation_p.A657T|GRIK2_ENST00000369137.3_Missense_Mutation_p.A581T	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	657					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TAACTTAGCCGCCTTTCTGAC	0.448000													21	36					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10697878	10697878	+	Splice_Site	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr18:10697878C>T	ENST00000302079.6	-	41	6355	c.6355_splice	c.e41-1	p.G2119_splice	PIEZO2_ENST00000538948.1_Splice_Site_p.G76_splice|PIEZO2_ENST00000285141.4_5'UTR|PIEZO2_ENST00000580640.1_Splice_Site_p.G2144_splice|PIEZO2_ENST00000503781.3_Splice_Site_p.G2119_splice			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2119	Ser-rich.					integral to membrane	ion channel activity										GCTTGTGCTGCCTAGAAATAA	0.428000													7	18					0	0	1	0	0
FH	2271	broad.mit.edu	37	1	241667498	241667498	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:241667498G>A	ENST00000366560.3	-	7	990	c.952C>T	c.(952-954)Cat>Tat	p.H318Y		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	318					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		AGAGCGTCATGAGCAGCCAGA	0.423000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer				8	44					0	0	1	0	0
FOXL2	668	broad.mit.edu	37	3	138665437	138665437	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr3:138665437C>A	ENST00000330315.3	-	1	545	c.128G>T	c.(127-129)gGg>gTg	p.G43V		NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	43	Poly-Gly.				convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						CGGGGCTGTCCCGCCGCCACC	0.741000			Mis		granulosa-cell tumour of the ovary		"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""						11	20					2.27111e-07	2.92479e-07	1	1	0
LLGL2	3993	broad.mit.edu	37	17	73568119	73568119	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr17:73568119C>G	ENST00000392550.3	+	19	2551	c.2434C>G	c.(2434-2436)Ctc>Gtc	p.L812V	LLGL2_ENST00000577200.1_Missense_Mutation_p.L812V|LLGL2_ENST00000167462.5_Missense_Mutation_p.L812V	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	812					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCACCAGCTGCTCGTCGTATC	0.632000													12	22					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113599407	113599407	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr8:113599407G>T	ENST00000297405.5	-	23	4017	c.3773C>A	c.(3772-3774)cCa>cAa	p.P1258Q	CSMD3_ENST00000343508.3_Missense_Mutation_p.P1218Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1154Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1258Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1258	CUB 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAGTTGAGTGGATAATTTGG	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			51	75					7.77372e-23	1.32992e-22	1	1	0
BRINP2	57795	broad.mit.edu	37	1	177250067	177250067	+	Silent	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:177250067C>T	ENST00000361539.4	+	8	2067	c.1755C>T	c.(1753-1755)gtC>gtT	p.V585V	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		585						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TGGAGCCTGTCATGGCCATCT	0.557000													7	53					0	0	1	0	0
DIO2	1734	broad.mit.edu	37	14	80669252	80669252	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr14:80669252C>A	ENST00000557010.1	-	4	987	c.602G>T	c.(601-603)cGt>cTt	p.R201L	DIO2_ENST00000555750.1_Missense_Mutation_p.R237L|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000438257.4_Missense_Mutation_p.R201L|DIO2_ENST00000557125.1_3'UTR	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	201					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CAAGGAGAAACGCTCCAGAAG	0.562000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	50					2.32078e-09	3.25283e-09	1	1	0
AMPH	273	broad.mit.edu	37	7	38505846	38505846	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr7:38505846C>A	ENST00000356264.2	-	8	808	c.593G>T	c.(592-594)cGa>cTa	p.R198L	AMPH_ENST00000325590.5_Missense_Mutation_p.R198L|AMPH_ENST00000428293.2_Missense_Mutation_p.R198L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	198	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AAATCCAACTCGTCTGCCATG	0.368000													8	36					0.000274275	0.000306801	1	1	0
NEB	4703	broad.mit.edu	37	2	152474831	152474831	+	Silent	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:152474831C>A	ENST00000427231.2	-	74	11236	c.11034G>T	c.(11032-11034)ccG>ccT	p.P3678P	NEB_ENST00000172853.10_Silent_p.P3435P|NEB_ENST00000603639.1_Silent_p.P3678P|NEB_ENST00000604864.1_Silent_p.P3678P|NEB_ENST00000397345.3_Silent_p.P3678P|NEB_ENST00000409198.1_Silent_p.P3435P	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	3678					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCACCTGCTCCGGAGTGTCCG	0.408000													31	169					9.65021e-13	1.47716e-12	1	1	0
TBC1D22B	55633	broad.mit.edu	37	6	37254842	37254842	+	Silent	SNP	A	A	G			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr6:37254842A>G	ENST00000373491.3	+	7	1007	c.861A>G	c.(859-861)gtA>gtG	p.V287V		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	287	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			AACCACTTGTACAGGAGGTGA	0.433000													24	88					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41577305	41577305	+	Nonsense_Mutation	SNP	G	G	T	rs61758867	byFrequency	TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr8:41577305G>T	ENST00000396942.1	-	10	1064	c.981C>A	c.(979-981)taC>taA	p.Y327*	ANK1_ENST00000352337.4_Nonsense_Mutation_p.Y327*|ANK1_ENST00000289734.7_Nonsense_Mutation_p.Y327*|ANK1_ENST00000379758.2_Nonsense_Mutation_p.Y327*|ANK1_ENST00000347528.4_Nonsense_Mutation_p.Y327*|ANK1_ENST00000265709.8_Nonsense_Mutation_p.Y360*|ANK1_ENST00000396945.1_Nonsense_Mutation_p.Y327*			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	327	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCTCTGCGTCGTATTGCAACA	0.567000													31	115					3.80469e-20	6.35329e-20	1	1	0
IGHV3-38	28429	broad.mit.edu	37	14	106866430	106866430	+	RNA	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr14:106866430C>A	ENST00000390618.2	-	0	401																											AATACACGGCCGTGCCCTCAG	0.537000													34	100					1.62565e-12	2.47752e-12	1	1	0
MMP17	4326	broad.mit.edu	37	12	132334346	132334346	+	Splice_Site	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr12:132334346G>A	ENST00000360564.1	+	9	1306		c.e9-1		MMP17_ENST00000535291.1_Splice_Site|MMP17_ENST00000535004.1_Intron	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)						proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CTCGCCCCCAGGAGACAGGTA	0.657000													19	64					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73240191	73240191	+	Silent	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr9:73240191C>T	ENST00000377110.2	-	13	1932	c.1689G>A	c.(1687-1689)gaG>gaA	p.E563E	TRPM3_ENST00000408909.2_Silent_p.E422E|TRPM3_ENST00000377105.1_Silent_p.E422E|TRPM3_ENST00000396292.4_Silent_p.E435E|TRPM3_ENST00000377111.2_Silent_p.E563E|TRPM3_ENST00000360823.2_Silent_p.E435E|TRPM3_ENST00000396280.5_Silent_p.E422E|TRPM3_ENST00000396285.1_Silent_p.E410E|TRPM3_ENST00000377106.1_Silent_p.E435E|TRPM3_ENST00000423814.3_Silent_p.E590E|TRPM3_ENST00000358082.3_Silent_p.E435E|TRPM3_ENST00000357533.2_Silent_p.E577E	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	588						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CCATCAGGTACTCGATCACCA	0.552000													11	35					0	0	1	0	0
SEC13	6396	broad.mit.edu	37	3	10360953	10360953	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr3:10360953G>T	ENST00000383801.2	-	2	82	c.11C>A	c.(10-12)cCt>cAt	p.P4H	SEC13_ENST00000350697.3_Intron|SEC13_ENST00000397109.3_Intron|SEC13_ENST00000397117.1_Intron|SEC13_ENST00000337354.4_Intron			P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	0					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						AGTAAGCACAGGTTCTCTCAT	0.458000													6	15					0.217242	0.218494	1	1	0
ZNF350	59348	broad.mit.edu	37	19	52469189	52469189	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr19:52469189G>A	ENST00000243644.4	-	5	744	c.517C>T	c.(517-519)Cat>Tat	p.H173Y	HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	173					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		ATTGCAGTATGAAGTCGTTCA	0.378000													90	129					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173232881	173232881	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr4:173232881C>G	ENST00000506823.1	+	4	1021	c.364C>G	c.(364-366)Ctg>Gtg	p.L122V	GALNTL6_ENST00000508122.1_Missense_Mutation_p.L105V|GALNTL6_ENST00000457021.1_3'UTR	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	122						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AGAGAGGTCTCTGCCAGATAT	0.378000													28	172					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171509394	171509394	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:171509394G>C	ENST00000367742.3	+	16	3031	c.2789G>C	c.(2788-2790)gGa>gCa	p.G930A	PRRC2C_ENST00000426496.2_Missense_Mutation_p.G928A|PRRC2C_ENST00000392078.3_Missense_Mutation_p.G930A|PRRC2C_ENST00000338920.4_Missense_Mutation_p.G928A			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	928							protein C-terminus binding										GTTTCCCATGGATCTAACCAT	0.443000													8	51					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166976399	166976399	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr4:166976399G>T	ENST00000061240.2	+	13	2343	c.1696G>T	c.(1696-1698)Ggg>Tgg	p.G566W	TLL1_ENST00000507499.1_Missense_Mutation_p.G589W	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	566	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GAACAAAGCAGGGTTTGCTGC	0.358000													13	64					1.15088e-07	1.49315e-07	1	1	0
OR4C16	219428	broad.mit.edu	37	11	55340279	55340279	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr11:55340279C>A	ENST00000314634.3	+	1	676	c.676C>A	c.(676-678)Cac>Aac	p.H226N		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TCTGAGAAACCACAGTGCTGA	0.418000													26	47					1.64293e-13	2.57123e-13	1	1	0
ARL6	84100	broad.mit.edu	37	3	97503893	97503893	+	Splice_Site	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr3:97503893G>A	ENST00000463745.1	+	5	826	c.349_splice	c.e5+1	p.D117_splice	ARL6_ENST00000394206.1_Splice_Site_p.D117_splice|ARL6_ENST00000335979.2_Splice_Site_p.D117_splice|ARL6_ENST00000496713.1_3'UTR	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	117					cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		GAATCATCCAGGTATGTGTGT	0.348000													16	39					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45269063	45269063	+	Silent	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr12:45269063G>A	ENST00000429094.2	-	2	633	c.129C>T	c.(127-129)acC>acT	p.T43T	NELL2_ENST00000437801.2_Silent_p.T93T|NELL2_ENST00000333837.4_Silent_p.T66T|NELL2_ENST00000395487.2_Silent_p.T42T|NELL2_ENST00000549027.1_Silent_p.T42T|NELL2_ENST00000551601.1_Silent_p.T42T|NELL2_ENST00000548826.1_Silent_p.T43T|NELL2_ENST00000452445.2_Silent_p.T43T	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	43	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GACGCACTCCGGTCGTGGACT	0.552000													8	35					0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133350	57133350	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr19:57133350A>T	ENST00000328070.6	+	3	929	c.695A>T	c.(694-696)cAc>cTc	p.H232L		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	232						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTCACCCAGCACGAGCGGATC	0.637000													30	46					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128388849	128388849	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:128388849C>T	ENST00000389524.4	+	36	4981	c.4928C>T	c.(4927-4929)gCc>gTc	p.A1643V	MYO7B_ENST00000409816.2_Missense_Mutation_p.A1643V|MYO7B_ENST00000409090.1_Missense_Mutation_p.A496V|MYO7B_ENST00000428314.1_Missense_Mutation_p.A1643V			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1643	SH3 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CACCTGTGGGCCTATTCCTGC	0.647000													8	32					0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95954277	95954277	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:95954277C>T	ENST00000317620.9	+	22	2514	c.2381C>T	c.(2380-2382)cCc>cTc	p.P794L	PROM2_ENST00000403131.2_Missense_Mutation_p.P794L|PROM2_ENST00000317668.4_Missense_Mutation_p.P794L|PROM2_ENST00000542147.1_Missense_Mutation_p.P745L	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	794						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TTCCTGATCCCCAGCATCATC	0.607000													17	67					0	0	1	0	0
APOBEC3C	27350	broad.mit.edu	37	22	39413824	39413824	+	Silent	SNP	C	C	T	rs140381208	by1000genomes	TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr22:39413824C>T	ENST00000361441.3	+	3	508	c.228C>T	c.(226-228)tgC>tgT	p.C76C	APOBEC3D_ENST00000381568.4_Intron	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C	76					DNA demethylation|interspecies interaction between organisms|negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					CTTGGTTCTGCGACGACATAC	0.572000													49	161					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24493018	24493018	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr5:24493018C>A	ENST00000264463.4	-	10	2039	c.1532G>T	c.(1531-1533)aGt>aTt	p.S511I	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	511	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTCTACTGCACTTATAGTCTG	0.328000										HNSCC(23;0.051)			89	155					4.45923e-32	8.02201e-32	1	1	0
KCNT2	343450	broad.mit.edu	37	1	196342309	196342309	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:196342309G>C	ENST00000367433.5	-	14	1465	c.1364C>G	c.(1363-1365)tCt>tGt	p.S455C	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Missense_Mutation_p.S66C|KCNT2_ENST00000294725.8_Missense_Mutation_p.S455C|KCNT2_ENST00000367431.4_Missense_Mutation_p.S455C			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	455	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AATAAGTGTAGATGTTGCTGG	0.294000													25	97					0	0	1	0	0
HAGH	3029	broad.mit.edu	37	16	1866941	1866941	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr16:1866941C>A	ENST00000397356.3	-	7	1106	c.700G>T	c.(700-702)Gtg>Ttg	p.V234L	HAGH_ENST00000455446.2_Silent_p.T197T|HAGH_ENST00000566709.1_Missense_Mutation_p.V186L|HAGH_ENST00000397353.2_Missense_Mutation_p.V186L	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	234					glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	CCGGGCTCCACGTGGCGTGCA	0.627000													9	31					7.48243e-07	9.46148e-07	1	1	0
UGT3A1	133688	broad.mit.edu	37	5	35954354	35954354	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr5:35954354C>A	ENST00000274278.3	-	7	1879	c.1522G>T	c.(1522-1524)Ggt>Tgt	p.G508C		NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	508						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCACCACACCCAGCAGCTTC	0.582000													12	67					7.03913e-09	9.67187e-09	1	1	0
SUN3	256979	broad.mit.edu	37	7	48028461	48028461	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr7:48028461C>T	ENST00000453192.2	-	10	1085	c.842G>A	c.(841-843)tGt>tAt	p.C281Y	SUN3_ENST00000395572.2_Missense_Mutation_p.C293Y|SUN3_ENST00000297325.4_Missense_Mutation_p.C293Y|SUN3_ENST00000412142.1_Missense_Mutation_p.C205Y|SUN3_ENST00000473723.1_5'UTR			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	293	SUN.					integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTCTCCTTCACATTTTTTTGT	0.338000													14	42					0	0	1	0	0
FUNDC1	139341	broad.mit.edu	37	X	44386527	44386527	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chrX:44386527G>A	ENST00000378045.4	-	4	514	c.346C>T	c.(346-348)Cga>Tga	p.R116*	FUNDC1_ENST00000483115.1_5'UTR	NM_173794.3	NP_776155.1	Q8IVP5	FUND1_HUMAN	FUN14 domain containing 1	116										breast(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						TTGTTCGCTCGTTTCTTAATC	0.294000													6	36					0	0	1	0	0
BBS12	166379	broad.mit.edu	37	4	123665068	123665068	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr4:123665068G>T	ENST00000542236.1	+	3	2402	c.2021G>T	c.(2020-2022)cGc>cTc	p.R674L	BBS12_ENST00000314218.3_Missense_Mutation_p.R674L	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	674					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						GAGGCGTGGCGCCGAGCATTG	0.368000									Bardet-Biedl syndrome				12	71					0.00010058	0.000115468	1	1	0
LGR6	59352	broad.mit.edu	37	1	202163291	202163291	+	Silent	SNP	C	C	A	rs143167510	byFrequency	TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:202163291C>A	ENST00000367278.3	+	1	263	c.174C>A	c.(172-174)tcC>tcA	p.S58S		NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	58	LRRNT.					integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TCGGGCTGTCCGCCGTTCCGG	0.746000													6	13					1.26484e-09	1.78717e-09	1	1	0
SMPD4P1	645280	broad.mit.edu	37	22	20977064	20977064	+	RNA	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr22:20977064G>T	ENST00000443839.1	-	0	1470																											TGTAAGCAGCGCAGGTTCCAG	0.577000													4	15					0.00909568	0.00961937	1	1	0
TP53	7157	broad.mit.edu	37	17	7578454	7578454	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr17:7578454G>A	ENST00000420246.2	-	5	608	c.476C>T	c.(475-477)gCc>gTc	p.A159V	TP53_ENST00000413465.2_Missense_Mutation_p.A159V|TP53_ENST00000269305.4_Missense_Mutation_p.A159V|TP53_ENST00000445888.2_Missense_Mutation_p.A159V|TP53_ENST00000455263.2_Missense_Mutation_p.A159V|TP53_ENST00000359597.4_Missense_Mutation_p.A159V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	159	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (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.A159V(33)|p.0?(8)|p.A159D(7)|p.R158fs(6)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R158fs*11(1)|p.A66V(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.A27V(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(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)		GATGGCCATGGCGCGGACGCG	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)			17	38					0	0	1	0	0
OR6M1	390261	broad.mit.edu	37	11	123677045	123677045	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr11:123677045T>C	ENST00000309154.2	-	1	50	c.13A>G	c.(13-15)Agc>Ggc	p.S5G		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		GTCACAGTGCTCCAGTTTCCC	0.418000													5	71					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109475580	109475580	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr13:109475580C>G	ENST00000356711.2	+	9	1111	c.985C>G	c.(985-987)Ccc>Gcc	p.P329A	MYO16_ENST00000357550.2_Missense_Mutation_p.P329A|MYO16_ENST00000251041.5_Missense_Mutation_p.P329A	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	329					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCAAGAAGAGCCCTATGAAGA	0.433000													29	95					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158639347	158639347	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:158639347C>A	ENST00000368148.3	-	14	1864	c.1684G>T	c.(1684-1686)Gcc>Tcc	p.A562S	SPTA1_ENST00000368147.3_Missense_Mutation_p.A562S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	562					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCCCGCCGGGCTAACAGCTGC	0.483000													41	158					3.78316e-11	5.52436e-11	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51732801	51732801	+	Silent	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr6:51732801C>A	ENST00000371117.3	-	48	7868	c.7593G>T	c.(7591-7593)ctG>ctT	p.L2531L	PKHD1_ENST00000340994.4_Silent_p.L2531L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2531					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTTTCCCAGACAGAGACCCAT	0.433000													12	43					1.08611e-07	1.41437e-07	1	1	0
SULT1E1	6783	broad.mit.edu	37	4	70723302	70723302	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr4:70723302T>C	ENST00000226444.3	-	2	173	c.61A>G	c.(61-63)Aaa>Gaa	p.K21E		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	21					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						ACAAAATCTTTATACATTAGA	0.353000													22	65					0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107090155	107090155	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr12:107090155G>A	ENST00000392842.1	+	8	1178	c.764G>A	c.(763-765)tGt>tAt	p.C255Y	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.C264Y|RFX4_ENST00000229387.5_Missense_Mutation_p.C161Y	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	255					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GTCGGCGTGTGTGACTCCATC	0.542000													21	77					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38776785	38776785	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr4:38776785G>A	ENST00000308973.4	-	4	1032	c.427C>T	c.(427-429)Cac>Tac	p.H143Y	TLR10_ENST00000361424.2_Missense_Mutation_p.H143Y|TLR10_ENST00000506111.1_Missense_Mutation_p.H143Y|TLR10_ENST00000508334.1_Missense_Mutation_p.H143Y	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	143					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ATTTCCAGGTGTGACATGTTG	0.393000													16	96					0	0	1	0	0
SETDB2	83852	broad.mit.edu	37	13	50065878	50065878	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr13:50065878G>T	ENST00000354234.4	+	14	2923	c.2017G>T	c.(2017-2019)Gca>Tca	p.A673S	SETDB2_ENST00000317257.8_Missense_Mutation_p.A685S	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	685	SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		GTATGTGAAAGCAAGAACAGA	0.323000													12	52					0.000151284	0.000171981	1	1	0
PDZD4	57595	broad.mit.edu	37	X	153068880	153068880	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chrX:153068880C>T	ENST00000164640.4	-	8	2429	c.2238G>A	c.(2236-2238)atG>atA	p.M746I	PDZD4_ENST00000393758.2_Missense_Mutation_p.M671I|PDZD4_ENST00000544474.1_Missense_Mutation_p.M637I	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	746						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTGGGCCAGCATCTCCTGGA	0.617000													14	10					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49210069	49210069	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:49210069G>T	ENST00000406846.2	-	8	769	c.650C>A	c.(649-651)gCc>gAc	p.A217D	FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000346173.3_Missense_Mutation_p.A217D|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000304421.4_Missense_Mutation_p.A191D	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	217					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGGTCCAGAGGCTCCGTGGAA	0.438000									Gonadal Dysgenesis, 46 XX				10	49					4.68919e-08	6.27022e-08	1	1	0
KCNA3	3738	broad.mit.edu	37	1	111216798	111216798	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:111216798G>C	ENST00000369769.2	-	1	857	c.634C>G	c.(634-636)Ccc>Gcc	p.P212A		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	212						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCGCGGCGGGGCAAGGGCCGC	0.677000													20	53					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152521351	152521351	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:152521351C>A	ENST00000427231.2	-	43	5467	c.5265G>T	c.(5263-5265)aaG>aaT	p.K1755N	NEB_ENST00000172853.10_Missense_Mutation_p.K1755N|NEB_ENST00000603639.1_Missense_Mutation_p.K1755N|NEB_ENST00000604864.1_Missense_Mutation_p.K1755N|NEB_ENST00000397345.3_Missense_Mutation_p.K1755N|NEB_ENST00000409198.1_Missense_Mutation_p.K1755N	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1755					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGTCTTGTCCTTGTTCCATT	0.423000													3	15					0.115264	0.117623	1	1	0
CLDND1	56650	broad.mit.edu	37	3	98235627	98235627	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr3:98235627C>G	ENST00000503004.1	-	5	1517	c.638G>C	c.(637-639)gGa>gCa	p.G213A	CLDND1_ENST00000513287.1_Missense_Mutation_p.G213A|CLDND1_ENST00000510545.1_Missense_Mutation_p.G213A|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000511081.1_Missense_Mutation_p.G118A|CLDND1_ENST00000507874.1_Intron|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000437922.1_Missense_Mutation_p.G236A|CLDND1_ENST00000394180.2_Missense_Mutation_p.G213A|CLDND1_ENST00000394181.2_Missense_Mutation_p.G213A|CLDND1_ENST00000394185.2_Missense_Mutation_p.G213A|CLDND1_ENST00000341181.6_Missense_Mutation_p.G213A			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	213				G -> E (in Ref. 2; AAF29137).		integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						GAAGGACCATCCAAATTCACC	0.488000													14	69					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144992171	144992171	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr8:144992171C>A	ENST00000322810.4	-	32	12398	c.12229G>T	c.(12229-12231)Gtg>Ttg	p.V4077L	PLEC_ENST00000398774.2_Missense_Mutation_p.V3908L|PLEC_ENST00000357649.2_Missense_Mutation_p.V3944L|PLEC_ENST00000354589.3_Missense_Mutation_p.V3940L|PLEC_ENST00000527096.1_Missense_Mutation_p.V3963L|PLEC_ENST00000436759.2_Missense_Mutation_p.V3967L|PLEC_ENST00000356346.3_Missense_Mutation_p.V3926L|PLEC_ENST00000354958.2_Missense_Mutation_p.V3918L|PLEC_ENST00000345136.3_Missense_Mutation_p.V3940L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4077	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTGGCGTCCACGAAGACACCA	0.642000													17	16					2.23348e-06	2.72548e-06	1	1	0
MTRR	4552	broad.mit.edu	37	5	7892876	7892876	+	Silent	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr5:7892876C>T	ENST00000264668.2	+	11	1518	c.1488C>T	c.(1486-1488)gtC>gtT	p.V496V	MTRR_ENST00000440940.2_Silent_p.V469V	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	496	FAD-binding FR-type.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TCCATTTTGTCTTCAACATTG	0.443000													21	194					0	0	1	0	0
KLF4	9314	broad.mit.edu	37	9	110249810	110249810	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr9:110249810C>A	ENST00000374672.4	-	3	1338	c.865G>T	c.(865-867)Ggc>Tgc	p.G289C		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	289	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GGTCCAGCGCCCAAGTGGGTG	0.706000													4	19					0.150653	0.1524	1	1	0
GARNL3	84253	broad.mit.edu	37	9	130107733	130107733	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr9:130107733G>C	ENST00000373387.4	+	16	1760	c.1408G>C	c.(1408-1410)Gct>Cct	p.A470P	GARNL3_ENST00000314904.5_Missense_Mutation_p.A470P|GARNL3_ENST00000435213.2_Missense_Mutation_p.A448P	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	470					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AAGCTTGGCAGCTTCAGGGAT	0.368000													16	61					0	0	1	0	0
LPPR5	163404	broad.mit.edu	37	1	99470015	99470015	+	Silent	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:99470015C>T	ENST00000370188.3	-	1	573	c.213G>A	c.(211-213)ctG>ctA	p.L71L	LPPR5_ENST00000263177.4_Silent_p.L71L|RP5-896L10.1_ENST00000425113.1_RNA|LPPR5_ENST00000534652.1_5'UTR	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		71						integral to membrane	hydrolase activity										CCCCGGCGGCCAGCGAGTAGA	0.711000													5	35					0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164393095	164393095	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr4:164393095G>A	ENST00000280605.3	-	1	1952	c.1792C>T	c.(1792-1794)Caa>Taa	p.Q598*		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	598						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTCCCACGTTGAGGCACTCCT	0.453000													21	86					0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54849295	54849295	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr19:54849295G>T	ENST00000291759.4	-	4	623	c.567C>A	c.(565-567)aaC>aaA	p.N189K		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	189	Ig-like C2-type 2.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		ATGTACCCCTGTTGCTGAAGG	0.572000													5	55					1	1	1	1	0
POTEF	728378	broad.mit.edu	37	2	130832599	130832599	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:130832599G>T	ENST00000357462.5	-	15	2539	c.2446C>A	c.(2446-2448)Cgc>Agc	p.R816S	POTEF_ENST00000409914.2_Missense_Mutation_p.R816S			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	816	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						ATCTTCTCGCGGTTGGCCTTA	0.597000													45	235					1.15505e-17	1.89254e-17	1	1	0
NEB	4703	broad.mit.edu	37	2	152521350	152521350	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:152521350C>A	ENST00000427231.2	-	43	5468	c.5266G>T	c.(5266-5268)Gac>Tac	p.D1756Y	NEB_ENST00000172853.10_Missense_Mutation_p.D1756Y|NEB_ENST00000603639.1_Missense_Mutation_p.D1756Y|NEB_ENST00000604864.1_Missense_Mutation_p.D1756Y|NEB_ENST00000397345.3_Missense_Mutation_p.D1756Y|NEB_ENST00000409198.1_Missense_Mutation_p.D1756Y	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1756					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTGGTCTTGTCCTTGTTCCAT	0.423000													3	16					0.115264	0.117623	1	1	0
BPIFC	254240	broad.mit.edu	37	22	32841929	32841929	+	Silent	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr22:32841929G>A	ENST00000397452.1	-	5	539	c.429C>T	c.(427-429)atC>atT	p.I143I	BPIFC_ENST00000534972.1_Intron|BPIFC_ENST00000300399.3_Silent_p.I143I|BPIFC_ENST00000432451.2_5'UTR			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	143						extracellular region	lipopolysaccharide binding|phospholipid binding										TTAGGATAATGATACCGGTAA	0.493000													9	43					0	0	1	0	0
TRBV6-6	28601	broad.mit.edu	37	7	142162144	142162144	+	RNA	SNP	T	T	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr7:142162144T>A	ENST00000390371.3	-	0	174																											GTTCATATCCTGGGCACACTG	0.478000													39	181					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94485995	94485995	+	Silent	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr9:94485995C>T	ENST00000375708.3	-	9	2979	c.2781G>A	c.(2779-2781)ggG>ggA	p.G927G	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	927					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGTCACAGTCCCCCAGCAGCT	0.642000													17	71					0	0	1	0	0
CHML	1122	broad.mit.edu	37	1	241798177	241798177	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:241798177T>A	ENST00000366553.1	-	1	1055	c.892A>T	c.(892-894)Atg>Ttg	p.M298L	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	298					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AGAAATTTCATTAGCATCCTC	0.358000													16	84					0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187175751	187175751	+	Silent	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr4:187175751G>T	ENST00000264690.6	+	12	1510	c.1323G>T	c.(1321-1323)ctG>ctT	p.L441L	KLKB1_ENST00000513864.1_Silent_p.L441L	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	441	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GGCTTCCCCTGCAGGATGTTT	0.373000													11	91					3.07112e-06	3.70872e-06	1	1	0
STAG3	10734	broad.mit.edu	37	7	99808706	99808706	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr7:99808706C>T	ENST00000426455.1	+	30	3718	c.3311C>T	c.(3310-3312)cCc>cTc	p.P1104L	STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.P1104L|GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.P1046L			Q9UJ98	STAG3_HUMAN	stromal antigen 3	1104					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCATCCCGCCCACGCCCACC	0.572000													18	91					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32184943	32184943	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr6:32184943G>C	ENST00000375023.3	-	10	1863	c.1725C>G	c.(1723-1725)tgC>tgG	p.C575W		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	575	EGF-like 14; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGAGACACTTGCAGTGGAAGG	0.617000													17	33					0	0	1	0	0
LOC401127	401127	broad.mit.edu	37	4	39482431	39482431	+	RNA	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr4:39482431C>T	ENST00000513652.1	+	0	438																											AGATACGGGACGTGAGCTCGG	0.458000													13	59					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144941167	144941167	+	Silent	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr8:144941167C>A	ENST00000525985.1	-	2	6326	c.6255G>T	c.(6253-6255)gtG>gtT	p.V2085V				P58107	EPIPL_HUMAN	epiplakin 1	2085						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCCTTGTTCACTGGGAACA	0.597000													59	85					1.27862e-28	2.27672e-28	1	1	0
CHIT1	1118	broad.mit.edu	37	1	203186229	203186229	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:203186229G>A	ENST00000367229.1	-	11	1223	c.1189C>T	c.(1189-1191)Ctt>Ttt	p.L397F	CHIT1_ENST00000255427.3_Missense_Mutation_p.L378F|CHIT1_ENST00000535569.1_Missense_Mutation_p.L388F|CHIT1_ENST00000484834.1_Intron	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	397					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GGAACTTCAAGCTCTGGGGTG	0.562000											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	71					0	0	1	0	0
INA	9118	broad.mit.edu	37	10	105037910	105037910	+	Silent	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr10:105037910G>A	ENST00000369849.4	+	1	991	c.942G>A	c.(940-942)gaG>gaA	p.E314E		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	314	Coil 2.|Rod.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		AGATCCACGAGTATCGGCGCC	0.662000													3	26					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30342995	30342995	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr21:30342995C>A	ENST00000361371.4	-	8	1204	c.1054G>T	c.(1054-1056)Ggt>Tgt	p.G352C	LTN1_ENST00000389194.2_Missense_Mutation_p.G398C|LTN1_ENST00000389195.2_Missense_Mutation_p.G398C	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	352							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						AGACCCCGACCACCTTCACGA	0.388000													11	37					1.58986e-06	1.96065e-06	1	1	0
COL19A1	1310	broad.mit.edu	37	6	70847634	70847634	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr6:70847634G>T	ENST00000322773.4	+	19	1543	c.1441G>T	c.(1441-1443)Gaa>Taa	p.E481*	COL19A1_ENST00000393344.1_Nonsense_Mutation_p.E103*	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	481	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ACAAAAAGGAGAACCTGTAAG	0.418000													25	60					1.1804e-14	1.86406e-14	1	1	0
ITGAD	3681	broad.mit.edu	37	16	31422824	31422824	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr16:31422824C>A	ENST00000389202.2	+	14	1742	c.1693C>A	c.(1693-1695)Ccc>Acc	p.P565T		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	565					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGGCATCAGCCCCTCCCACAG	0.597000													7	85					0.0293803	0.0305171	1	1	0
SIRT2	22933	broad.mit.edu	37	19	39379730	39379730	+	Silent	SNP	C	C	A	rs139101702	byFrequency	TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr19:39379730C>A	ENST00000249396.7	-	8	799	c.498G>T	c.(496-498)acG>acT	p.T166T	SIRT2_ENST00000392081.2_Silent_p.T129T|SIRT2_ENST00000358931.5_Silent_p.T166T	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	sirtuin 2	166	Deacetylase sirtuin-type.				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			CGCCTACCTGCGTGTAGCAGC	0.627000													34	61					3.86903e-22	6.58679e-22	1	1	0
TNXB	7148	broad.mit.edu	37	6	32023794	32023794	+	Silent	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr6:32023794G>A	ENST00000375244.3	-	24	8502	c.8301C>T	c.(8299-8301)acC>acT	p.T2767T	TNXB_ENST00000375247.2_Silent_p.T2767T			P22105	TENX_HUMAN	tenascin XB	2825	Fibronectin type-III 19.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGTACTGCACGGTGAAGGAGT	0.672000													7	71					0	0	1	0	0
OSR2	116039	broad.mit.edu	37	8	99962949	99962949	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr8:99962949G>T	ENST00000297565.4	+	3	1218	c.722G>T	c.(721-723)aGa>aTa	p.R241I	OSR2_ENST00000522510.1_Missense_Mutation_p.R241I|OSR2_ENST00000435298.2_Missense_Mutation_p.R241I|OSR2_ENST00000457907.2_Missense_Mutation_p.R362I|OSR2_ENST00000523368.1_Missense_Mutation_p.R241I	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	241					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			TGTCAGTCTAGAACTCTAGCA	0.348000													5	12					0.000602214	0.00066934	1	1	0
C6orf222	389384	broad.mit.edu	37	6	36294809	36294809	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr6:36294809C>G	ENST00000437635.2	-	4	967	c.790G>C	c.(790-792)Gag>Cag	p.E264Q		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	264										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CTCCTCACCTCTTCTTCCCAC	0.507000													26	72					0	0	1	0	0
MSTO1	55154	broad.mit.edu	37	1	155581973	155581973	+	Splice_Site	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:155581973G>T	ENST00000245564.2	+	8	703	c.678_splice	c.e8-1	p.G227_splice	MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000368341.4_Splice_Site_p.G192_splice|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000483734.1_3'UTR	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	227					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					CCCCGTCCAGGGCTTCCAGAT	0.542000													24	67					5.35356e-11	7.78497e-11	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3241716	3241716	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chrX:3241716C>A	ENST00000217939.6	-	5	2164	c.2010G>T	c.(2008-2010)aaG>aaT	p.K670N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	670						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAGACCCTTTCTTGGTCACTG	0.542000													24	40					4.26978e-12	6.45087e-12	1	1	0
ABCB6	10058	broad.mit.edu	37	2	220078673	220078673	+	Splice_Site	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:220078673C>T	ENST00000265316.3	-	9	1769	c.1452_splice	c.e9-1	p.G485_splice	ABCB6_ENST00000439002.2_Splice_Site_p.G439_splice	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	485	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACTCCAAACCCTGAGGGCAA	0.547000													21	128					0	0	1	0	0
CCDC126	90693	broad.mit.edu	37	7	23682710	23682710	+	Silent	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr7:23682710G>A	ENST00000307471.3	+	4	856	c.399G>A	c.(397-399)acG>acA	p.T133T	CCDC126_ENST00000409765.1_Silent_p.T133T|CCDC126_ENST00000410069.1_Silent_p.T133T	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	133						extracellular region				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						ATAAAAGAACGAATGTCTCGG	0.428000													8	37					0	0	1	0	0
FAM134B	54463	broad.mit.edu	37	5	16475069	16475069	+	Silent	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr5:16475069G>A	ENST00000306320.9	-	9	1361	c.1275C>T	c.(1273-1275)atC>atT	p.I425I	FAM134B_ENST00000399793.2_Silent_p.I284I	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	425					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						ACTGGTCTTTGATAGCTGCAG	0.517000													19	115					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87966383	87966383	+	Silent	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr10:87966383C>A	ENST00000327946.7	-	3	343	c.258G>T	c.(256-258)ggG>ggT	p.G86G		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	86						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGGCCAAAATCCCCTGGGTCA	0.587000										Multiple Myeloma(13;0.14)			3	23					0.115264	0.117623	1	1	0
LINS	55180	broad.mit.edu	37	15	101120467	101120467	+	Splice_Site	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr15:101120467C>A	ENST00000314742.8	-	3	712		c.e3+1		LINS_ENST00000560133.1_Splice_Site|LINS_ENST00000561308.1_Splice_Site|LINS_ENST00000559149.1_Splice_Site	NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)											central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						ACTTATCTTACCTTTTCTCTC	0.323000													6	17					3.59834e-05	4.20006e-05	1	1	0
CTNND2	1501	broad.mit.edu	37	5	11117651	11117651	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr5:11117651G>T	ENST00000304623.8	-	13	2377	c.2188C>A	c.(2188-2190)Cgc>Agc	p.R730S	CTNND2_ENST00000359640.2_Missense_Mutation_p.R730S|CTNND2_ENST00000458100.2_Missense_Mutation_p.R297S|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.R639S|CTNND2_ENST00000503622.1_Missense_Mutation_p.R393S	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	730					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ATCCTTCTGCGGGCCTCCTCT	0.542000													74	67					1.79293e-35	3.29334e-35	1	1	0
ANKRD33	341405	broad.mit.edu	37	12	52284630	52284630	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr12:52284630G>T	ENST00000301190.6	+	5	1127	c.900G>T	c.(898-900)caG>caT	p.Q300H	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Missense_Mutation_p.Q106H|ANKRD33_ENST00000340970.4_Missense_Mutation_p.Q175H	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	175										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CGTCTCCTCAGGAGGGGGGTG	0.657000													4	28					0.00024832	0.000278661	1	1	0
SETD5	55209	broad.mit.edu	37	3	9490102	9490102	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr3:9490102G>T	ENST00000402466.1	+	17	2608	c.1840G>T	c.(1840-1842)Gca>Tca	p.A614S	SETD5_ENST00000402198.1_Missense_Mutation_p.A712S|SETD5_ENST00000407969.1_Missense_Mutation_p.A731S|SETD5_ENST00000302463.6_Missense_Mutation_p.A614S|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000406341.1_Missense_Mutation_p.A712S			Q9C0A6	SETD5_HUMAN	SET domain containing 5	712										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GAATGACAAAGCAGAGAAGCA	0.398000													11	35					1.58986e-06	1.96065e-06	1	1	0
TUBA3C	7278	broad.mit.edu	37	13	19748132	19748132	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr13:19748132G>T	ENST00000400113.3	-	5	1328	c.1224C>A	c.(1222-1224)taC>taA	p.Y408*		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	408					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTTCTCCCACGTACCAGTGCA	0.602000													42	123					2.58029e-29	4.61805e-29	1	1	0
PLCL1	5334	broad.mit.edu	37	2	198948520	198948520	+	Silent	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:198948520C>A	ENST00000428675.1	+	2	677	c.279C>A	c.(277-279)acC>acA	p.T93T		NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	93	Interaction with PPP1C.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAAAGAAAACCGTGTCTTTCA	0.378000													8	44					5.18039e-06	6.21291e-06	1	1	0
TRIM11	81559	broad.mit.edu	37	1	228582417	228582417	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:228582417C>A	ENST00000493030.2	-	5	4730	c.1021G>T	c.(1021-1023)Gct>Tct	p.A341S	RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000284551.6_Missense_Mutation_p.A466S			Q96F44	TRI11_HUMAN	tripartite motif containing 11	466	B30.2/SPRY.				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding	p.A466S(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				CACTGGGGAGCCAGGGTGTCC	0.677000													7	18					0.00621372	0.00667258	1	1	0
TEKT2	27285	broad.mit.edu	37	1	36553655	36553655	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:36553655C>A	ENST00000207457.3	+	10	1288	c.1161C>A	c.(1159-1161)gaC>gaA	p.D387E		NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	387					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGCTGCTGGACACCAAGTGCA	0.602000													10	27					1.58986e-06	1.96065e-06	1	1	0
FLRT2	23768	broad.mit.edu	37	14	86088227	86088227	+	Silent	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr14:86088227C>A	ENST00000330753.4	+	2	1136	c.369C>A	c.(367-369)acC>acA	p.T123T	FLRT2_ENST00000554746.1_Silent_p.T123T	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	123					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ATATTCAGACCATTTCACGGG	0.522000													18	81					3.32936e-07	4.24068e-07	1	1	0
TRDMT1	1787	broad.mit.edu	37	10	17199591	17199591	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr10:17199591T>C	ENST00000377799.3	-	8	783	c.736A>G	c.(736-738)Agt>Ggt	p.S246G	TRDMT1_ENST00000412821.3_Missense_Mutation_p.S222G|TRDMT1_ENST00000457442.2_Missense_Mutation_p.S165G|TRDMT1_ENST00000488990.1_Missense_Mutation_p.S123G|TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000351358.4_Missense_Mutation_p.S200G	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	246					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						GAGAGATCACTATCTTGTTGA	0.363000													4	42					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87653868	87653868	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr4:87653868G>C	ENST00000436978.1	+	12	2287	c.1807G>C	c.(1807-1809)Gca>Cca	p.A603P	PTPN13_ENST00000411767.2_Missense_Mutation_p.A603P|PTPN13_ENST00000511467.1_Missense_Mutation_p.A603P|PTPN13_ENST00000427191.2_Missense_Mutation_p.A603P|PTPN13_ENST00000316707.6_Missense_Mutation_p.A603P	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	603	FERM.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TATGGTTGTGGCACATATTGG	0.363000													6	46					0	0	1	0	0
GSTA1	2938	broad.mit.edu	37	6	52660981	52660981	+	Splice_Site	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr6:52660981G>T	ENST00000334575.5	-	4	426	c.272_splice	c.e4+1	p.L91_splice	GSTA1_ENST00000493331.1_Intron	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	91	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	ATACCGTACAGGGCTCTCTCC	0.483000													81	228					7.427e-35	1.35708e-34	1	1	0
ZNF713	349075	broad.mit.edu	37	7	56006846	56006846	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr7:56006846A>T	ENST00000429591.2	+	4	478	c.440A>T	c.(439-441)cAc>cTc	p.H147L	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAAGAAAACCACAAGAGATAT	0.408000													22	64					0	0	1	0	0
MROH9	80133	broad.mit.edu	37	1	170961334	170961334	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:170961334G>T	ENST00000367759.4	+	12	1212	c.1058G>T	c.(1057-1059)tGt>tTt	p.C353F	MROH9_ENST00000367758.3_Missense_Mutation_p.C353F	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		AAGGCGGCATGTTCTCAGGCG	0.488000													16	49					2.23348e-06	2.72548e-06	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113347694	113347694	+	Silent	SNP	T	T	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr8:113347694T>A	ENST00000297405.5	-	45	7273	c.7029A>T	c.(7027-7029)ccA>ccT	p.P2343P	CSMD3_ENST00000343508.3_Silent_p.P2303P|CSMD3_ENST00000455883.2_Silent_p.P2239P|CSMD3_ENST00000352409.3_Silent_p.P2273P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2343	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATTTTGGTCTGGTCCATCCC	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			28	33					0	0	1	0	0
YBX2	51087	broad.mit.edu	37	17	7193723	7193723	+	Silent	SNP	T	T	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr17:7193723T>A	ENST00000007699.5	-	5	654	c.591A>T	c.(589-591)gcA>gcT	p.A197A	YBX2_ENST00000570627.1_5'UTR	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	197	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						AGGGGATCTCTGCCACCATGG	0.667000													46	73					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11098851	11098851	+	RNA	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr21:11098851C>A	ENST00000470054.1	-	0	74									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gtgttacaggctccagcctcc	0.632000													4	53					0.00909568	0.00961937	1	1	0
PNMA1	9240	broad.mit.edu	37	14	74179744	74179744	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr14:74179744C>T	ENST00000316836.3	-	1	1384	c.599G>A	c.(598-600)cGg>cAg	p.R200Q		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	200					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		catcaaccgccgcctcttttc	0.562000													24	46					0	0	1	0	0
SSFA2	6744	broad.mit.edu	37	2	182786887	182786887	+	Silent	SNP	A	A	G			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:182786887A>G	ENST00000431877.2	+	16	3602	c.3423A>G	c.(3421-3423)ccA>ccG	p.P1141P	SSFA2_ENST00000320370.7_Silent_p.P1141P|SSFA2_ENST00000409001.1_Silent_p.P1119P|SSFA2_ENST00000409136.1_Silent_p.P650P|SSFA2_ENST00000428267.2_Silent_p.P966P|SSFA2_ENST00000467172.2_3'UTR	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1141						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CCAAAACCCCATTAGTGGCAA	0.478000													25	131					0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239039105	239039105	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:239039105C>T	ENST00000343063.3	+	9	2013	c.1750C>T	c.(1750-1752)Ccc>Tcc	p.P584S	ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409506.1_Missense_Mutation_p.P216S|ESPNL_ENST00000409169.1_Missense_Mutation_p.P540S	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	584										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		AGAGGTGGCCCCCGGGGTGCA	0.697000													5	8					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43306724	43306724	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr6:43306724T>C	ENST00000361428.2	-	10	5089	c.5012A>G	c.(5011-5013)tAt>tGt	p.Y1671C	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1671					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TAGGAAGCCATAGGTGCTGCC	0.473000													38	82					0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215408306	215408306	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:215408306G>T	ENST00000444842.2	+	7	1249	c.1099G>T	c.(1099-1101)Gca>Tca	p.A367S	KCNK2_ENST00000391894.2_Missense_Mutation_p.A352S|KCNK2_ENST00000391895.2_Missense_Mutation_p.A363S	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	367	Required for basal channel activity (By similarity).						outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	GAAGCTCTCGGCAGAACTGGC	0.547000													20	76					7.21436e-19	1.19328e-18	1	1	0
DIRAS2	54769	broad.mit.edu	37	9	93375827	93375827	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr9:93375827C>A	ENST00000375765.3	-	2	671	c.283G>T	c.(283-285)Gag>Tag	p.E95*		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	95					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TTGAGCTCCTCCAAGGACTGT	0.587000													30	116					7.01153e-11	1.01117e-10	1	1	0
KDM1A	23028	broad.mit.edu	37	1	23405517	23405517	+	Silent	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:23405517G>A	ENST00000400181.4	+	17	2006	c.1902G>A	c.(1900-1902)acG>acA	p.T634T	KDM1A_ENST00000356634.3_Silent_p.T610T|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Silent_p.T634T	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	610	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CCCGCTCCACGAGTCAAACCT	0.498000													44	123					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158326366	158326366	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:158326366G>T	ENST00000444681.2	+	4	979	c.686G>T	c.(685-687)cGg>cTg	p.R229L	CD1E_ENST00000368157.1_Missense_Mutation_p.R84L|CD1E_ENST00000368156.1_Missense_Mutation_p.R238L|CD1E_ENST00000368160.3_Missense_Mutation_p.R328L|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368165.3_Missense_Mutation_p.R238L|CD1E_ENST00000368166.3_Missense_Mutation_p.R139L|CD1E_ENST00000368167.3_Missense_Mutation_p.R328L|CD1E_ENST00000434258.1_3'UTR|CD1E_ENST00000368163.3_Missense_Mutation_p.R273L|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368155.3_Missense_Mutation_p.R183L|CD1E_ENST00000368154.1_Missense_Mutation_p.R84L|CD1E_ENST00000452291.2_Missense_Mutation_p.R139L	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	328	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GTTGACTCACGGTTAAAAAAA	0.368000													4	41					0.150653	0.1524	1	1	0
STRIP2	57464	broad.mit.edu	37	7	129093069	129093069	+	Splice_Site	SNP	T	T	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr7:129093069T>C	ENST00000249344.2	+	5	451	c.409_splice	c.e5-1	p.G137_splice	STRIP2_ENST00000435494.2_Splice_Site_p.G137_splice	NM_020704.2	NP_065755.1			striatin interacting protein 2																		GTCCTTTAGGTACTTTTGGGG	0.498000													27	107					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176992581	176992581	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:176992581C>A	ENST00000367654.2	-	7	1410	c.1397G>T	c.(1396-1398)cGg>cTg	p.R466L	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.R466L|ASTN1_ENST00000361833.2_Missense_Mutation_p.R466L|ASTN1_ENST00000424564.2_Missense_Mutation_p.R466L			O14525	ASTN1_HUMAN	astrotactin 1	466	EGF-like 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTCCAGGAGCCGCCGGGCACA	0.612000													11	13					3.86212e-05	4.47801e-05	1	1	0
ZBTB41	360023	broad.mit.edu	37	1	197160928	197160928	+	Nonsense_Mutation	SNP	T	T	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:197160928T>A	ENST00000367405.4	-	2	1290	c.1222A>T	c.(1222-1224)Aga>Tga	p.R408*	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TGCTTCTTTCTGTGAACAGTT	0.403000													8	32					0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5020569	5020569	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr12:5020569G>C	ENST00000382545.3	+	2	1132	c.25G>C	c.(25-27)Gtg>Ctg	p.V9L	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	9					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGGGGAGAACGTGGACGAGGC	0.721000													6	30					0	0	1	0	0
DLG3	1741	broad.mit.edu	37	X	69699100	69699100	+	Silent	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chrX:69699100G>A	ENST00000194900.4	+	11	1901	c.1560G>A	c.(1558-1560)agG>agA	p.R520R	DLG3_ENST00000374355.3_Silent_p.R165R|DLG3_ENST00000374360.3_Silent_p.R502R|DLG3_ENST00000542398.1_Silent_p.R19R			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	502	SH3.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GTGAAAAGAGGTCCTTGTATG	0.488000													29	36					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113985	117113985	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr6:117113985G>T	ENST00000310357.3	-	6	2122	c.2101C>A	c.(2101-2103)Ctc>Atc	p.L701I	GPRC6A_ENST00000368549.3_Missense_Mutation_p.L630I|GPRC6A_ENST00000530250.1_Missense_Mutation_p.L526I	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	701					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GGTCTATAGAGGCACTTCAGA	0.423000													10	41					1.49906e-05	1.76747e-05	1	1	0
AKAP17A	8227	broad.mit.edu	37	X	1720178	1720178	+	Silent	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chrX:1720178C>T	ENST00000313871.3	+	5	1975	c.1779C>T	c.(1777-1779)gaC>gaT	p.D593D		NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	593	Arg-rich.				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CCACCGGAGACGGGCTTGCTG	0.701000													7	27					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37126103	37126103	+	Nonsense_Mutation	SNP	T	T	G			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr20:37126103T>G	ENST00000262879.6	+	4	781	c.497T>G	c.(496-498)tTa>tGa	p.L166*	RALGAPB_ENST00000397040.1_Nonsense_Mutation_p.L166*|RALGAPB_ENST00000537204.1_Nonsense_Mutation_p.L166*|RALGAPB_ENST00000397042.3_Nonsense_Mutation_p.L166*|RALGAPB_ENST00000397038.1_5'UTR			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	166					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGGGAAGTCTTACTGTTGTTT	0.428000													12	120					0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113352716	113352716	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr4:113352716G>C	ENST00000458497.1	+	11	2292	c.2013G>C	c.(2011-2013)ttG>ttC	p.L671F	ALPK1_ENST00000177648.9_Missense_Mutation_p.L671F|ALPK1_ENST00000504176.2_Missense_Mutation_p.L593F	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	671							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AGATGCCCTTGACACCCTTCT	0.483000													14	77					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113986	117113986	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr6:117113986G>T	ENST00000310357.3	-	6	2121	c.2100C>A	c.(2098-2100)tgC>tgA	p.C700*	GPRC6A_ENST00000368549.3_Nonsense_Mutation_p.C629*|GPRC6A_ENST00000530250.1_Nonsense_Mutation_p.C525*	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	700					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTCTATAGAGGCACTTCAGAA	0.428000													9	41					1.3612e-06	1.70272e-06	1	1	0
CMPK2	129607	broad.mit.edu	37	2	7003596	7003596	+	Splice_Site	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:7003596C>A	ENST00000256722.5	-	2	788	c.790_splice	c.e2+1	p.T263_splice	CMPK2_ENST00000478738.1_5'UTR|CMPK2_ENST00000458098.1_Splice_Site_p.T263_splice|CMPK2_ENST00000404168.1_Splice_Site_p.T263_splice	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	263					dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity	p.T263T(1)		large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTATCTTACCCGTGGCATCCA	0.443000													8	62					0.000157383	0.000177757	1	1	0
PEX14	5195	broad.mit.edu	37	1	10689760	10689760	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:10689760G>T	ENST00000356607.4	+	9	930	c.850G>T	c.(850-852)Gag>Tag	p.E284*	PEX14_ENST00000538836.1_Nonsense_Mutation_p.E220*	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	284					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAGCCCCGAGGGCTCCAC	0.677000													5	21					1	1	1	1	0
WDR3	10885	broad.mit.edu	37	1	118485096	118485096	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:118485096G>T	ENST00000349139.4	+	10	1073	c.1026G>T	c.(1024-1026)gaG>gaT	p.E342D		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	342						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		AAGATCCTGAGGTTAATGTTG	0.348000													12	85					2.80697e-09	3.90292e-09	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51774244	51774244	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr6:51774244C>T	ENST00000371117.3	-	40	6794	c.6519G>A	c.(6517-6519)atG>atA	p.M2173I	PKHD1_ENST00000340994.4_Missense_Mutation_p.M2173I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2173					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCTTCTCACTCATGGAATACA	0.468000													47	105					0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159275777	159275777	+	Splice_Site	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:159275777G>T	ENST00000368115.1	+	5	430		c.e5-1		FCER1A_ENST00000368114.1_Splice_Site	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide							integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ATGTTCTTCAGACTGGCTGCT	0.458000													11	56					0.000978159	0.0010769	1	1	0
CTCFL	140690	broad.mit.edu	37	20	56083663	56083663	+	Splice_Site	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr20:56083663C>A	ENST00000429804.2	-	8	2083	c.1524_splice	c.e8+1	p.W508_splice	CTCFL_ENST00000502686.2_Splice_Site_p.W296_splice|CTCFL_ENST00000243914.3_Splice_Site_p.W558_splice|CTCFL_ENST00000433949.2_Splice_Site_p.W558_splice|CTCFL_ENST00000432255.2_Splice_Site_p.W414_splice|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000423479.2_Splice_Site_p.W558_splice|CTCFL_ENST00000422869.2_Splice_Site_p.W558_splice|CTCFL_ENST00000422109.2_Splice_Site_p.L426_splice|CTCFL_ENST00000371196.2_Splice_Site_p.W558_splice|CTCFL_ENST00000539382.1_Splice_Site_p.W353_splice	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	558					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TAAGCTTACCCAGCGGGAAAA	0.448000													36	103					9.45814e-24	1.6341e-23	1	1	0
PDZD2	23037	broad.mit.edu	37	5	32072266	32072266	+	Splice_Site	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr5:32072266G>A	ENST00000438447.1	+	17	2956		c.e17-1		PDZD2_ENST00000282493.3_Splice_Site			O15018	PDZD2_HUMAN	PDZ domain containing 2						cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TTCTTCAACAGGACTCCCTTA	0.458000													19	162					0	0	1	0	0
RIN1	9610	broad.mit.edu	37	11	66102440	66102440	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr11:66102440T>A	ENST00000311320.4	-	6	956	c.830A>T	c.(829-831)cAg>cTg	p.Q277L	RIN1_ENST00000424433.2_Missense_Mutation_p.Q172L|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000530056.1_Missense_Mutation_p.Q172L	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	277					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CCGCTCTGTCTGGCTGGGGAC	0.692000													22	20					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21706489	21706489	+	Silent	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr3:21706489G>A	ENST00000281523.2	-	2	572	c.54C>T	c.(52-54)gcC>gcT	p.A18A	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	18						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GACGGACAAGGGCCGGGAGAG	0.522000													13	42					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134074071	134074071	+	Silent	SNP	A	A	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr9:134074071A>T	ENST00000359428.5	+	29	5334	c.5190A>T	c.(5188-5190)tcA>tcT	p.S1730S	NUP214_ENST00000411637.2_Silent_p.S1720S|NUP214_ENST00000451030.1_Silent_p.S1731S|NUP214_ENST00000483497.2_Silent_p.S556S			P35658	NU214_HUMAN	nucleoporin 214kDa	1730	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GGCAGGCCTCAGTCTTTGGGC	0.597000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								20	75					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16953752	16953752	+	RNA	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:16953752C>A	ENST00000412962.1	-	0	509																											CAGGACTGAGCGCTTCCCTTC	0.637000													4	61					0.000602214	0.00066934	1	1	0
C7orf33	202865	broad.mit.edu	37	7	148288121	148288121	+	Missense_Mutation	SNP	G	G	T	rs142396932		TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr7:148288121G>T	ENST00000307003.2	+	1	465	c.104G>T	c.(103-105)cGg>cTg	p.R35L		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	35										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GCAAGGCGCCGGATTGACCTT	0.567000													25	85					7.4402e-23	1.27913e-22	1	1	0
USH2A	7399	broad.mit.edu	37	1	216420435	216420435	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:216420435C>A	ENST00000366943.2	-	13	2687	c.2301G>T	c.(2299-2301)gaG>gaT	p.E767D	USH2A_ENST00000307340.3_Missense_Mutation_p.E767D|USH2A_ENST00000366942.3_Missense_Mutation_p.E767D			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	767	Laminin EGF-like 5.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTTTTTGCACTCACACTGCC	0.458000										HNSCC(13;0.011)			27	122					3.01185e-09	4.17117e-09	1	1	0
SH2D3C	10044	broad.mit.edu	37	9	130511803	130511803	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr9:130511803C>A	ENST00000314830.8	-	5	939	c.826G>T	c.(826-828)Gag>Tag	p.E276*	SH2D3C_ENST00000373274.3_Nonsense_Mutation_p.E116*|SH2D3C_ENST00000373277.4_Nonsense_Mutation_p.E119*|SH2D3C_ENST00000373276.3_Nonsense_Mutation_p.E208*|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000420366.1_Nonsense_Mutation_p.E118*|SH2D3C_ENST00000429553.1_5'UTR	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	276	SH2.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTGTAGCTCTCGCCTGCCTTC	0.602000													13	45					7.93312e-07	9.99516e-07	1	1	0
VAV3	10451	broad.mit.edu	37	1	108185291	108185291	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:108185291C>A	ENST00000370056.4	-	20	2138	c.1864G>T	c.(1864-1866)Ggg>Tgg	p.G622W	VAV3_ENST00000544443.1_Missense_Mutation_p.G26W|VAV3_ENST00000415432.2_Missense_Mutation_p.G62W|VAV3_ENST00000527011.1_Missense_Mutation_p.G622W|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	622	SH3 1.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		ACGGTATCCCCGGCCTGGAGC	0.507000													22	93					1.10923e-09	1.57367e-09	1	1	0
DENND4B	9909	broad.mit.edu	37	1	153916758	153916758	+	Silent	SNP	A	A	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:153916758A>T	ENST00000361217.4	-	2	511	c.93T>A	c.(91-93)gtT>gtA	p.V31V		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	31										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGGTTCAGGAACCCACGTTT	0.682000													4	19					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110730469	110730469	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr5:110730469G>T	ENST00000282356.4	+	5	846	c.448G>T	c.(448-450)Gag>Tag	p.E150*	CAMK4_ENST00000512453.1_Nonsense_Mutation_p.E150*	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	150	Protein kinase.		E -> G (in a lung adenocarcinoma sample; somatic mutation).		activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ACAAATCCTGGAGGCAGTTGC	0.403000													16	28					0.00400662	0.00436973	1	1	0
TYK2	7297	broad.mit.edu	37	19	10461800	10461800	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr19:10461800C>T	ENST00000525621.1	-	24	3838	c.3357G>A	c.(3355-3357)atG>atA	p.M1119I	TYK2_ENST00000529422.1_5'UTR|TYK2_ENST00000524462.1_Missense_Mutation_p.M934I|TYK2_ENST00000264818.6_Missense_Mutation_p.M1119I	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1119	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCAGAACTGTCATCTGACCCT	0.507000													18	31					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558889	113558889	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr7:113558889C>A	ENST00000284601.3	-	1	231	c.163G>T	c.(163-165)Gat>Tat	p.D55Y		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	55					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GATGGGGTATCCAGGTATATG	0.408000													25	116					1.10923e-09	1.57367e-09	1	1	0
PDZD4	57595	broad.mit.edu	37	X	153070161	153070161	+	Silent	SNP	C	C	G			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chrX:153070161C>G	ENST00000164640.4	-	8	1148	c.957G>C	c.(955-957)ggG>ggC	p.G319G	PDZD4_ENST00000393758.2_Silent_p.G244G|PDZD4_ENST00000544474.1_Silent_p.G210G	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	319						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGGCGTCCCCTTGCAGGC	0.687000													4	41					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720438	140720438	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr5:140720438G>T	ENST00000394576.2	+	1	1900	c.1900G>T	c.(1900-1902)Gac>Tac	p.D634Y	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)			AGCCCTGCTGGACAGAGACGC	0.692000													33	94					9.8876e-21	1.66704e-20	1	1	0
MAP9	79884	broad.mit.edu	37	4	156273849	156273849	+	Nonsense_Mutation	SNP	T	T	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr4:156273849T>A	ENST00000311277.4	-	13	1983	c.1720A>T	c.(1720-1722)Aag>Tag	p.K574*	MAP9_ENST00000515654.1_Nonsense_Mutation_p.K550*|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000593387.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	574					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		tctttttcctttTGCTTGAAA	0.279000													13	39					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158142073	158142073	+	Translation_Start_Site	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr4:158142073G>A	ENST00000296526.7	+	0	204				GRIA2_ENST00000507898.1_Intron|GRIA2_ENST00000504801.1_Intron|GRIA2_ENST00000264426.9_De_novo_Start_OutOfFrame|GRIA2_ENST00000393815.2_Intron	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2						synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TTAGCAGCTTGGTGCTAAATT	0.493000													4	23					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74042489	74042489	+	Missense_Mutation	SNP	T	T	C	rs13399480		TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:74042489T>C	ENST00000409561.1	+	3	1260	c.1139T>C	c.(1138-1140)aTa>aCa	p.I380T		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	380										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CAGATCCTAATAGGAAATCAA	0.458000													9	36					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91134173	91134173	+	Silent	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chrX:91134173C>A	ENST00000373094.1	+	2	3779	c.2934C>A	c.(2932-2934)atC>atA	p.I978I	PCDH11X_ENST00000373097.1_Silent_p.I978I|PCDH11X_ENST00000406881.1_Silent_p.I978I|PCDH11X_ENST00000373088.1_Silent_p.I978I|PCDH11X_ENST00000395337.2_Silent_p.I978I|PCDH11X_ENST00000361724.1_Silent_p.I978I|PCDH11X_ENST00000298274.8_Silent_p.I978I|PCDH11X_ENST00000504220.1_Silent_p.I978I|PCDH11X_ENST00000361655.2_Silent_p.I978I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	978					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTGACTCTATCTCCAAGTGTT	0.517000													44	84					2.2871e-25	3.99098e-25	1	1	0
CASR	846	broad.mit.edu	37	3	122003307	122003307	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr3:122003307G>T	ENST00000498619.1	+	7	2974	c.2536G>T	c.(2536-2538)Gta>Tta	p.V846L	CASR_ENST00000296154.5_Missense_Mutation_p.V836L|CASR_ENST00000490131.1_Missense_Mutation_p.V836L	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	836					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGTCTCTGCCGTAGAGGTGAT	0.498000													14	60					9.05144e-12	1.34998e-11	1	1	0
DLG2	1740	broad.mit.edu	37	11	84245694	84245694	+	Silent	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr11:84245694G>T	ENST00000398309.2	-	2	593	c.123C>A	c.(121-123)ctC>ctA	p.L41L	DLG2_ENST00000543673.1_Silent_p.L146L|DLG2_ENST00000532653.1_Silent_p.L41L|DLG2_ENST00000376104.2_Silent_p.L146L|DLG2_ENST00000524982.1_Silent_p.L41L	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	41						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				ATACATGCACGAGTTCTGGGC	0.408000													79	110					5.02462e-34	9.1333e-34	1	1	0
DENND2C	163259	broad.mit.edu	37	1	115144193	115144193	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:115144193C>A	ENST00000393274.1	-	13	2376	c.1751G>T	c.(1750-1752)gGa>gTa	p.G584V	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Missense_Mutation_p.G584V|DENND2C_ENST00000393276.3_Missense_Mutation_p.G527V	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	584										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGTCGCTTTCCTTTGCCTAC	0.358000													75	216					1.77355e-41	3.27498e-41	1	1	0
PRAMEF2	65122	broad.mit.edu	37	1	12921355	12921355	+	Silent	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:12921355C>T	ENST00000240189.2	+	4	1233	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	382										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCACCTTCTACTTTGGCA	0.582000													14	266					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60419732	60419732	+	Silent	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr20:60419732C>A	ENST00000360469.5	+	5	673	c.585C>A	c.(583-585)tcC>tcA	p.S195S	CDH4_ENST00000543233.1_Silent_p.S121S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	195	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGATCCGGTCCGACAAAGACA	0.592000													19	65					1.37657e-19	2.28772e-19	1	1	0
UGT1A4	54657	broad.mit.edu	37	2	234627630	234627630	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:234627630G>T	ENST00000373409.3	+	1	207	c.164G>T	c.(163-165)gGc>gTc	p.G55V	UGT1A6_ENST00000480628.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000305139.6_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		CATGCCAGAGGCCACCAGGCG	0.587000													11	41					3.86212e-05	4.47801e-05	1	1	0
ZNF783	100289678	broad.mit.edu	37	7	148963547	148963547	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr7:148963547C>G	ENST00000434415.1	+	2	309	c.146C>G	c.(145-147)gCc>gGc	p.A49G		NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	49					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GTGGTGGCCGCCATTCAGGCC	0.612000													6	27					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969493	140969493	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chrX:140969493C>G	ENST00000298296.1	+	4	820	c.820C>G	c.(820-822)Cgc>Ggc	p.R274G	MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	274	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GCCCCAGAACCGCCTCCTGAT	0.502000													44	87					0	0	1	0	0
MGST3	4259	broad.mit.edu	37	1	165601488	165601488	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:165601488G>T	ENST00000367883.1	+	2	101	c.12G>T	c.(10-12)agG>agT	p.R4S	MGST3_ENST00000367885.1_Missense_Mutation_p.R4S|MGST3_ENST00000367889.3_Intron|MGST3_ENST00000367888.4_Intron|MGST3_ENST00000367886.2_Missense_Mutation_p.R4S|MGST3_ENST00000404549.1_Missense_Mutation_p.R4S|MGST3_ENST00000367884.1_Intron			O14880	MGST3_HUMAN	microsomal glutathione S-transferase 3	0					leukotriene biosynthetic process|leukotriene production involved in inflammatory response|signal transduction|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glutathione peroxidase activity|glutathione transferase activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)	TGCCCTGGAGGGGAAGGCGCT	0.547000													19	74					5.26018e-13	8.12302e-13	1	1	0
RBM24	221662	broad.mit.edu	37	6	17292270	17292270	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr6:17292270G>A	ENST00000379052.5	+	4	867	c.631G>A	c.(631-633)Gcc>Acc	p.A211T	RBM24_ENST00000318204.5_Missense_Mutation_p.A166T|RBM24_ENST00000425446.2_Missense_Mutation_p.A153T|RBM24_ENST00000508508.1_3'UTR	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	211	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			GACAgctgccgccgccgctgc	0.607000													13	36					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103052498	103052498	+	Silent	SNP	A	A	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr11:103052498A>T	ENST00000375735.2	+	40	6504	c.6360A>T	c.(6358-6360)acA>acT	p.T2120T	DYNC2H1_ENST00000398093.3_Silent_p.T2120T|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2120	AAA 2 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATGAAGAGACAGATCTTAATT	0.269000													7	7					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228528892	228528892	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:228528892T>C	ENST00000570156.2	+	84	20739	c.20665T>C	c.(20665-20667)Tgc>Cgc	p.C6889R	OBSCN_ENST00000422127.1_Missense_Mutation_p.C5932R|OBSCN_ENST00000284548.11_Missense_Mutation_p.C5932R|OBSCN_ENST00000366709.4_Missense_Mutation_p.C3051R|OBSCN_ENST00000366707.4_Missense_Mutation_p.C3566R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5932					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTGGTAATCTGCAAGCCCCG	0.652000													11	24					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1096443	1096443	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr11:1096443C>A	ENST00000441003.2	+	34	6495	c.6468C>A	c.(6466-6468)ttC>ttA	p.F2156L	MUC2_ENST00000361558.6_Missense_Mutation_p.F294L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4518						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGGACAACTTCGGAGTTTACA	0.587000													19	61					4.96729e-08	6.59157e-08	1	1	0
NUP210	23225	broad.mit.edu	37	3	13367381	13367381	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr3:13367381G>A	ENST00000254508.5	-	33	4640	c.4558C>T	c.(4558-4560)Ccc>Tcc	p.P1520S		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1520					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCCGTCTTGGGGTCGATGTGG	0.617000													30	66					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999258	27999258	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chrX:27999258G>C	ENST00000441525.1	-	1	308	c.194C>G	c.(193-195)aCa>aGa	p.T65R		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	65										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TTGATTTTCTGTGCTGGCATC	0.502000													30	45					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112303	248112303	+	Silent	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:248112303C>A	ENST00000357191.3	+	1	144	c.144C>A	c.(142-144)atC>atA	p.I48I	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTCTTCTCATCTTCTTGGACA	0.418000													102	384					8.13309e-56	1.50981e-55	1	1	0
PDE3A	5139	broad.mit.edu	37	12	20787935	20787935	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr12:20787935C>A	ENST00000359062.3	+	8	1986	c.1946C>A	c.(1945-1947)cCt>cAt	p.P649H	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	649					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTGAGAGAGCCTCTGAGGAAA	0.443000													15	68					2.61681e-11	3.83726e-11	1	1	0
C8orf22	492307	broad.mit.edu	37	8	49986622	49986622	+	Silent	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr8:49986622C>T	ENST00000303202.8	+	3	233	c.60C>T	c.(58-60)tcC>tcT	p.S20S	C8orf22_ENST00000517663.1_Silent_p.S20S|C8orf22_ENST00000522267.1_Silent_p.S20S|C8orf22_ENST00000399653.4_Silent_p.S20S	NM_001256598.1	NP_001243527.1	Q8WWR9	PDPFL_HUMAN	chromosome 8 open reading frame 22	20										large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				CTACAGAGTCCAGTGTTTCTT	0.348000													22	40					0	0	1	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45971117	45971117	+	Silent	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr21:45971117G>A	ENST00000391621.1	-	1	271	c.225C>T	c.(223-225)tgC>tgT	p.C75C	TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	75	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						ACGAGGGCGTGCAGGAGCTGG	0.692000													32	120					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140731921	140731921	+	Silent	SNP	C	C	G			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr5:140731921C>G	ENST00000523390.1	+	1	2094	c.2094C>G	c.(2092-2094)ctC>ctG	p.L698L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCAGTGCTCTTTCTCCTCG	0.592000													48	150					0	0	1	0	0
BPGM	669	broad.mit.edu	37	7	134346557	134346557	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr7:134346557A>T	ENST00000393132.2	+	3	787	c.298A>T	c.(298-300)Agg>Tgg	p.R100W	BPGM_ENST00000418040.1_Missense_Mutation_p.R100W|BPGM_ENST00000344924.3_Missense_Mutation_p.R100W	NM_199186.2	NP_954655.1	P07738	PMGE_HUMAN	2,3-bisphosphoglycerate mutase	100					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						CGGTCTCAACAGGGAGCAGAT	0.527000													20	60					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50534988	50534988	+	Silent	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr15:50534988C>A	ENST00000267845.3	-	12	1860	c.1458G>T	c.(1456-1458)cgG>cgT	p.R486R	HDC_ENST00000543581.1_Silent_p.R453R	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	486					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GGTTCCCAACCCGAGGGCTGG	0.562000													10	46					3.07112e-06	3.70872e-06	1	1	0
SEMA3A	10371	broad.mit.edu	37	7	83634789	83634789	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr7:83634789A>T	ENST00000265362.3	-	11	1540	c.1226T>A	c.(1225-1227)aTg>aAg	p.M409K	SEMA3A_ENST00000436949.1_Missense_Mutation_p.M409K	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	409	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TGGATTGTACATGGCTGGATG	0.383000													20	100					0	0	1	0	0
C3orf72	401089	broad.mit.edu	37	3	138668431	138668431	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr3:138668431C>A	ENST00000383165.3	+	2	301	c.170C>A	c.(169-171)cCc>cAc	p.P57H		NM_001040061.2	NP_001035150.1	Q6ZUU3	CC072_HUMAN	chromosome 3 open reading frame 72	57										large_intestine(1)|lung(3)	4						ATCGGTCTCCCCAAGATGTGC	0.547000													17	26					7.05477e-17	1.13987e-16	1	1	0
CNTN5	53942	broad.mit.edu	37	11	99932052	99932052	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr11:99932052T>A	ENST00000524871.1	+	10	1379	c.1089T>A	c.(1087-1089)gaT>gaA	p.D363E	CNTN5_ENST00000279463.3_Missense_Mutation_p.D363E|CNTN5_ENST00000528682.1_Missense_Mutation_p.D363E|CNTN5_ENST00000527185.1_Missense_Mutation_p.D363E|CNTN5_ENST00000418526.2_Missense_Mutation_p.D289E	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	363	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGCTGGATGATGCAGGCATTT	0.418000													46	64					0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109394792	109394792	+	Silent	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:109394792G>T	ENST00000370001.3	-	2	763	c.495C>A	c.(493-495)acC>acA	p.T165T	AKNAD1_ENST00000369995.3_Silent_p.T165T|AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369994.1_Silent_p.T165T	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	165										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TGAGTTCTGGGGTTTGTTCTT	0.408000													21	89					8.10497e-08	1.06741e-07	1	1	0
PLEKHH2	130271	broad.mit.edu	37	2	43986102	43986102	+	Nonsense_Mutation	SNP	T	T	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:43986102T>A	ENST00000282406.4	+	27	4115	c.4005T>A	c.(4003-4005)tgT>tgA	p.C1335*		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1335	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTGCTGACTGTGTGCGCATTT	0.428000													14	73					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142459714	142459714	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr7:142459714C>G	ENST00000486171.1	+	4	349	c.332C>G	c.(331-333)cCc>cGc	p.P111R	PRSS1_ENST00000311737.7_Missense_Mutation_p.P97R			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	97	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ATCCGCCACCCCCAATACGAC	0.542000													24	180					0	0	1	0	0
HERC3	8916	broad.mit.edu	37	4	89576424	89576424	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr4:89576424G>C	ENST00000402738.1	+	8	1116	c.877G>C	c.(877-879)Ggt>Cgt	p.G293R	HERC3_ENST00000264345.3_Missense_Mutation_p.G293R|HERC3_ENST00000407637.1_Missense_Mutation_p.G293R	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	293					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)		AGAGCTGATGGGTAGTGAAGT	0.458000													30	102					0	0	1	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185364843	185364843	+	Silent	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr3:185364843G>A	ENST00000382199.2	-	15	1772	c.1677C>T	c.(1675-1677)gtC>gtT	p.V559V	IGF2BP2_ENST00000421047.2_Silent_p.V502V|IGF2BP2_ENST00000346192.3_Silent_p.V516V|IGF2BP2_ENST00000457616.2_Silent_p.V565V	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	559	KH 4.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CGATAATTCTGACGATCACTT	0.507000													20	76					0	0	1	0	0
TRIM8	81603	broad.mit.edu	37	10	104414874	104414874	+	Missense_Mutation	SNP	A	A	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr10:104414874A>C	ENST00000302424.6	+	3	826	c.704A>C	c.(703-705)cAg>cCg	p.Q235P	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	235						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GTTCGGCTGCAGTACGAGAAG	0.597000													16	54					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32101285	32101285	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr5:32101285G>C	ENST00000438447.1	+	24	8681	c.8293G>C	c.(8293-8295)Gat>Cat	p.D2765H	PDZD2_ENST00000513490.1_3'UTR|PDZD2_ENST00000282493.3_Missense_Mutation_p.D2765H			O15018	PDZD2_HUMAN	PDZ domain containing 2	2765	PDZ 6.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACTGAGTCTGGATGGGGGAAA	0.532000													16	109					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926752	1926752	+	Silent	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:1926752G>A	ENST00000399161.2	-	10	1536	c.789C>T	c.(787-789)gaC>gaT	p.D263D	MYT1L_ENST00000428368.2_Silent_p.D263D	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	263					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTTTAAGGGAGTCCACTGTTT	0.418000													34	141					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30342994	30342994	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr21:30342994C>A	ENST00000361371.4	-	8	1205	c.1055G>T	c.(1054-1056)gGt>gTt	p.G352V	LTN1_ENST00000389194.2_Missense_Mutation_p.G398V|LTN1_ENST00000389195.2_Missense_Mutation_p.G398V	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	352							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TAGACCCCGACCACCTTCACG	0.393000													11	37					1.58986e-06	1.96065e-06	1	1	0
CDK20	23552	broad.mit.edu	37	9	90584814	90584814	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr9:90584814C>A	ENST00000375883.3	-	5	827	c.521G>T	c.(520-522)gGg>gTg	p.G174V	CDK20_ENST00000375871.4_Intron|CDK20_ENST00000336654.5_Missense_Mutation_p.G187V|CDK20_ENST00000325303.8_Missense_Mutation_p.G195V|CDK20_ENST00000605159.1_Missense_Mutation_p.G174V	NM_001170639.1|NM_012119.4|NM_178432.3	NP_001164110.1|NP_036251.2|NP_848519.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	195	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						CAACAGCTCCCCCATGATGCA	0.567000													15	79					1.02788e-11	1.52652e-11	1	1	0
BAMBI	25805	broad.mit.edu	37	10	28970916	28970916	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr10:28970916A>T	ENST00000375533.3	+	3	925	c.369A>T	c.(367-369)caA>caT	p.Q123H		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	123					cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						CTTTAGGACAAGGAAACAGGT	0.418000													23	67					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064900	9064900	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr19:9064900C>T	ENST00000397910.4	-	3	22749	c.22546G>A	c.(22546-22548)Gat>Aat	p.D7516N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7518	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACACTTGTATCCCCCATAATG	0.483000													25	75					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77690659	77690659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr8:77690659C>A	ENST00000521891.2	+	4	3757	c.3309C>A	c.(3307-3309)tgC>tgA	p.C1103*	ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.C1077*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.C1077*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.C1077*|ZFHX4_ENST00000517683.1_3'UTR	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1077						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTAAAGATTGCCCACCAAATG	0.527000										HNSCC(33;0.089)			67	92					5.10508e-28	9.04403e-28	1	1	0
OR10AG1	282770	broad.mit.edu	37	11	55735576	55735576	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr11:55735576G>C	ENST00000312345.2	-	1	414	c.364C>G	c.(364-366)Cag>Gag	p.Q122E		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AGAGGATACTGCAAAGGCTTA	0.433000													11	57					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179430839	179430839	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:179430839C>A	ENST00000589042.1	-	326	80244	c.80020G>T	c.(80020-80022)Gct>Tct	p.A26674S	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A17801S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A25033S|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A17609S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A24106S|TTN_ENST00000359218.5_Missense_Mutation_p.A17734S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25033	Fibronectin type-III 94.						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)			GTTACAAAAGCAGACTTTGAT	0.403000													15	139					2.23348e-06	2.72548e-06	1	1	0
BAIAP2L2	80115	broad.mit.edu	37	22	38504295	38504295	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr22:38504295G>T	ENST00000381669.3	-	3	325	c.181C>A	c.(181-183)Cgt>Agt	p.R61S	BAIAP2L2_ENST00000332536.5_Missense_Mutation_p.R61S	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	61	IMD.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					TGCAGGGCACGCTCCCCAATC	0.632000													7	22					0.00198382	0.00217038	1	1	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977377	29977377	+	RNA	SNP	C	C	G			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr6:29977377C>G	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							TTTGTGACTTCAAGAACCCTG	0.458000													3	30					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861892	52861892	+	Silent	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr4:52861892C>A	ENST00000343457.3	-	4	1302	c.1296G>T	c.(1294-1296)gcG>gcT	p.A432A		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	432						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GTGTGTGCCCCGCAGCTTCCA	0.537000													18	122					1.00905e-13	1.58629e-13	1	1	0
ASGR2	433	broad.mit.edu	37	17	7010563	7010563	+	Silent	SNP	G	G	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr17:7010563G>C	ENST00000380952.2	-	6	762	c.498C>G	c.(496-498)ctC>ctG	p.L166L	ASGR2_ENST00000355035.5_Silent_p.L166L|ASGR2_ENST00000254850.7_Silent_p.L142L|ASGR2_ENST00000446679.2_Silent_p.L147L	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172.1|NP_001188281.1|NP_550434.1	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	166					cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	TGCTGTGGAGGAGCTCCATCT	0.642000													17	42					0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19316283	19316283	+	Silent	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr17:19316283G>T	ENST00000461366.1	+	4	629	c.414G>T	c.(412-414)ctG>ctT	p.L138L	CTB-187M2.2_ENST00000579897.1_RNA|RNF112_ENST00000580109.1_Intron	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	138							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						AGCCGCTGCTGCTGGTTCGCA	0.647000													3	7					0.115264	0.117623	1	1	0
RIMS2	9699	broad.mit.edu	37	8	104943521	104943521	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr8:104943521C>T	ENST00000507740.1	+	9	1887	c.1651C>T	c.(1651-1653)Caa>Taa	p.Q551*	RIMS2_ENST00000436393.2_Nonsense_Mutation_p.Q537*|RIMS2_ENST00000406091.3_Nonsense_Mutation_p.Q759*|RIMS2_ENST00000262231.10_Nonsense_Mutation_p.Q598*	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	821					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGTTGGTCACCAATTAATAGT	0.333000										HNSCC(12;0.0054)			22	37					0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22120870	22120870	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr16:22120870C>A	ENST00000389398.5	+	7	647	c.551C>A	c.(550-552)cCt>cAt	p.P184H	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	184						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AGCAGTGGCCCTCAGAAAGAA	0.517000													3	25					0.00909568	0.00961937	1	1	0
AVEN	57099	broad.mit.edu	37	15	34168175	34168175	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr15:34168175C>A	ENST00000306730.3	-	3	596	c.467G>T	c.(466-468)cGg>cTg	p.R156L	AVEN_ENST00000558136.1_5'UTR	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor	156					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		CTCAGCAAACCGGAACTGTGA	0.408000													15	26					9.16793e-09	1.24985e-08	1	1	0
FLT3	2322	broad.mit.edu	37	13	28589810	28589810	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr13:28589810G>T	ENST00000380982.4	-	21	2660	c.2579C>A	c.(2578-2580)cCc>cAc	p.P860H	FLT3_ENST00000241453.7_Missense_Mutation_p.P857H|FLT3_ENST00000537084.1_Missense_Mutation_p.P816H			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	857	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CAGGCTTTCGGGGGCCATCCA	0.438000			"""Mis, O"""		"""AML, ALL"""								16	52					6.31663e-08	8.35039e-08	1	1	0
MARCH11	441061	broad.mit.edu	37	5	16067750	16067750	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr5:16067750G>T	ENST00000332432.8	-	4	1238	c.1039C>A	c.(1039-1041)Cca>Aca	p.P347T		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	347						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						GCTGTCAATGGCAACCACAAA	0.468000													21	100					4.96729e-08	6.59157e-08	1	1	0
NCAPG2	54892	broad.mit.edu	37	7	158449021	158449021	+	Silent	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr7:158449021G>A	ENST00000409339.3	-	19	2432	c.2319C>T	c.(2317-2319)aaC>aaT	p.N773N	NCAPG2_ENST00000541468.1_Silent_p.N274N|NCAPG2_ENST00000409423.1_Silent_p.N773N|NCAPG2_ENST00000356309.3_Silent_p.N773N|NCAPG2_ENST00000275830.10_Silent_p.N565N|NCAPG2_ENST00000449727.2_Silent_p.N773N			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	773					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AGCACTCGCGGTTCTTTGGAT	0.473000													25	100					0	0	1	0	0
SLC10A7	84068	broad.mit.edu	37	4	147204395	147204395	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr4:147204395C>T	ENST00000432059.2	-	9	1003	c.757G>A	c.(757-759)Gca>Aca	p.A253T	SLC10A7_ENST00000335472.7_Missense_Mutation_p.A266T|SLC10A7_ENST00000394062.3_Missense_Mutation_p.A266T|SLC10A7_ENST00000264986.3_3'UTR|SLC10A7_ENST00000507030.1_Missense_Mutation_p.A266T			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	266						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					ACTGTGTCTGCTGGTGTGAAA	0.343000													9	42					0	0	1	0	0
TEX264	51368	broad.mit.edu	37	3	51708435	51708435	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr3:51708435G>T	ENST00000415259.1	+	2	1196	c.115G>T	c.(115-117)Ggg>Tgg	p.G39W	TEX264_ENST00000416589.1_Missense_Mutation_p.G39W|TEX264_ENST00000341333.5_Missense_Mutation_p.G39W|TEX264_ENST00000395057.1_Missense_Mutation_p.G39W|TEX264_ENST00000457573.1_Missense_Mutation_p.G39W			Q9Y6I9	TX264_HUMAN	testis expressed 264	39						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		AGTGAGTGCTGGGTCACCCCC	0.602000													26	60					6.38683e-12	9.56654e-12	1	1	0
TTC14	151613	broad.mit.edu	37	3	180323570	180323570	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr3:180323570G>A	ENST00000412756.2	+	7	943	c.874G>A	c.(874-876)Gat>Aat	p.D292N	TTC14_ENST00000382584.4_Missense_Mutation_p.D292N|TTC14_ENST00000296015.4_Missense_Mutation_p.D292N	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	292							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTTCTCTGAAGATGATTTTGC	0.289000													13	36					0	0	1	0	0
MIR920	100126320	broad.mit.edu	37	12	24365410	24365410	+	RNA	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr12:24365410G>A	ENST00000401373.1	+	0	56					NR_030625.1																						CTCCAGGGGAGCTGTGGAAGC	0.443000													21	87					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173873260	173873260	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr4:173873260A>T	ENST00000506823.1	+	10	1879	c.1222A>T	c.(1222-1224)Agg>Tgg	p.R408W	GALNTL6_ENST00000508122.1_Missense_Mutation_p.R391W	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	408						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GCCGGAGTACAGGCATCTCTC	0.547000													9	57					0	0	1	0	0
PHF1	5252	broad.mit.edu	37	6	33382126	33382126	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr6:33382126A>T	ENST00000374516.3	+	9	1130	c.859A>T	c.(859-861)Agt>Tgt	p.S287C	PHF1_ENST00000374512.3_Missense_Mutation_p.S287C	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	287					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GAATTGGGACAGTTTGCTCCT	0.498000											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	57					0	0	1	0	0
LOC101927958	101927958	broad.mit.edu	37	2	239141152	239141152	+	RNA	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:239141152C>A	ENST00000456601.1	+	0	828																											ATGCCGAACCCAAGCGCAATA	0.488000													17	64					1.67942e-08	2.27177e-08	1	1	0
LINC01317	104355287	broad.mit.edu	37	2	33952349	33952349	+	RNA	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:33952349C>A	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							CAAGGCCAGCCCCAACAGGAA	0.617000													4	20					0.00909568	0.00961937	1	1	0
KANK4	163782	broad.mit.edu	37	1	62740092	62740092	+	Silent	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:62740092G>T	ENST00000371153.4	-	3	1062	c.684C>A	c.(682-684)gtC>gtA	p.V228V	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	228	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTCCCTCCTGGACCAGCTCTG	0.552000													9	46					0.00448238	0.00485823	1	1	0
FMN2	56776	broad.mit.edu	37	1	240255697	240255697	+	Silent	SNP	T	T	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:240255697T>C	ENST00000319653.9	+	1	518	c.288T>C	c.(286-288)gaT>gaC	p.D96D		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	96					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCGCGAAGATGTACTGGATT	0.632000													5	23					0	0	1	0	0
ALLC	55821	broad.mit.edu	37	2	3750099	3750099	+	Silent	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:3750099G>A	ENST00000252505.3	+	12	1284	c.1122G>A	c.(1120-1122)agG>agA	p.R374R		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	393							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GCCTCCTGAGGCCCCGGGAGA	0.597000										HNSCC(21;0.051)			9	19					0	0	1	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611934	42611934	+	Silent	SNP	T	T	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr8:42611934T>C	ENST00000276410.2	-	5	763	c.408A>G	c.(406-408)acA>acG	p.T136T	CHRNA6_ENST00000534622.1_Silent_p.T121T	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	136						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GAAGAGCTTTTGTTTTGCCTT	0.423000													50	118					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138576586	138576586	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr6:138576586C>T	ENST00000251691.4	+	10	950	c.784C>T	c.(784-786)Cct>Tct	p.P262S		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	262					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AAACCTCTGCCCTGCTCTCAT	0.478000													18	51					0	0	1	0	0
GPR150	285601	broad.mit.edu	37	5	94956253	94956253	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr5:94956253G>A	ENST00000380007.2	+	1	472	c.274G>A	c.(274-276)Gcg>Acg	p.A92T		NM_199243.1	NP_954713.1	Q8NGU9	GP150_HUMAN	G protein-coupled receptor 150	92						integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(2)	2		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		GCTGGCCCTGGCGGACCTGTA	0.741000													3	6					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162735785	162735785	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:162735785C>G	ENST00000375514.5	+	9	1323	c.1036C>G	c.(1036-1038)Cca>Gca	p.P346A	SLC4A10_ENST00000446997.1_Missense_Mutation_p.P365A|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000272716.5_Missense_Mutation_p.P335A|SLC4A10_ENST00000421911.1_Missense_Mutation_p.P365A|SLC4A10_ENST00000535165.1_Missense_Mutation_p.P365A|SLC4A10_ENST00000415876.2_Missense_Mutation_p.P335A	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	365					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.P335T(1)|p.P365T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGCTGAAGTCCCAATCCCAAC	0.388000													20	99					0	0	1	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10917755	10917755	+	Silent	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:10917755G>A	ENST00000272238.4	+	11	979	c.870G>A	c.(868-870)ccG>ccA	p.P290P	ATP6V1C2_ENST00000381661.3_Intron	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	290					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		p.P290P(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CCACCTTCCCGGACCACAAGG	0.483000													18	99					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	150005698	150005698	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr6:150005698T>A	ENST00000543571.1	-	4	1074	c.527A>T	c.(526-528)cAg>cTg	p.Q176L	LATS1_ENST00000253339.5_Missense_Mutation_p.Q176L|LATS1_ENST00000392273.3_Missense_Mutation_p.Q176L|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	176					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTTCCAGCTCTGTTTGCGGTT	0.413000													31	56					0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152882805	152882805	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:152882805C>A	ENST00000368764.3	+	2	596	c.532C>A	c.(532-534)Cag>Aag	p.Q178K	IVL_ENST00000392667.2_Missense_Mutation_p.Q32K			P07476	INVO_HUMAN	involucrin	178	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gcacccggagcagcaggaggg	0.647000													4	15					0.00909568	0.00961937	1	1	0
SDR42E1	93517	broad.mit.edu	37	16	82033595	82033595	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr16:82033595C>G	ENST00000328945.5	-	3	430	c.303G>C	c.(301-303)agG>agC	p.R101S	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	101					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						TGTCTGTGCCCCTGACGTTGA	0.478000													30	83					0	0	1	0	0
LRTM2	654429	broad.mit.edu	37	12	1940272	1940272	+	Missense_Mutation	SNP	T	T	G			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr12:1940272T>G	ENST00000543818.1	+	4	1081	c.239T>G	c.(238-240)cTg>cGg	p.L80R	CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.L80R|CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000543730.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.L80R|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	80						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			AACAATAAGCTGAGTGCCCTG	0.642000													23	88					0	0	1	0	0
C2orf61	285051	broad.mit.edu	37	2	47378566	47378566	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:47378566T>C	ENST00000294947.2	-	3	265	c.230A>G	c.(229-231)aAc>aGc	p.N77S	CALM2_ENST00000422269.1_5'UTR|C2orf61_ENST00000445927.2_Missense_Mutation_p.N77S	NM_173649.2	NP_775920.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	77								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCTTCCTTCGTTTTTAAAATT	0.388000													29	137					0	0	1	0	0
KIF5C	3800	broad.mit.edu	37	2	149679792	149679792	+	Silent	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:149679792C>T	ENST00000435030.1	+	2	581	c.213C>T	c.(211-213)gtC>gtT	p.V71V				O60282	KIF5C_HUMAN	kinesin family member 5C	71	Kinesin-motor.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AGCAAATTGTCAAAGGTAAGT	0.418000													7	21					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113988290	113988290	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr8:113988290G>T	ENST00000297405.5	-	7	1362	c.1118C>A	c.(1117-1119)aCa>aAa	p.T373K	CSMD3_ENST00000343508.3_Missense_Mutation_p.T333K|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.T373K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	373						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCTGCAGGTGTGCTAGCAAC	0.488000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			56	62					1.46357e-32	2.64656e-32	1	1	0
FOXB2	442425	broad.mit.edu	37	9	79634642	79634642	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr9:79634642G>T	ENST00000376708.1	+	1	72	c.72G>T	c.(70-72)atG>atT	p.M24I		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	24					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						TGACCGCCATGGCAATCCAGC	0.642000													5	27					0.014758	0.0155137	1	1	0
CLCN4	1183	broad.mit.edu	37	X	10180534	10180534	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chrX:10180534A>G	ENST00000380833.4	+	10	1808	c.1417A>G	c.(1417-1419)Atg>Gtg	p.M473V	CLCN4_ENST00000421085.2_Missense_Mutation_p.M379V|CLCN4_ENST00000380829.1_Missense_Mutation_p.M442V	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	473						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CATCCCCAGCATGGCTGTGGG	0.572000													15	38					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173803978	173803978	+	Silent	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr4:173803978C>A	ENST00000506823.1	+	8	1618	c.961C>A	c.(961-963)Cgg>Agg	p.R321R	GALNTL6_ENST00000508122.1_Silent_p.R304R	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	321	Catalytic subdomain B.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TGCTGTGGATCGGAAATGGTT	0.418000													28	116					2.65835e-16	4.25579e-16	1	1	0
AADACL3	126767	broad.mit.edu	37	1	12785630	12785630	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:12785630G>T	ENST00000332530.3	+	3	736	c.510G>T	c.(508-510)agG>agT	p.R170S	AADACL3_ENST00000359318.5_Missense_Mutation_p.R240S	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	240							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TTAAGGAGAGGGGTTACCAAC	0.493000													36	98					4.11147e-13	6.37735e-13	1	1	0
SMAD4	4089	broad.mit.edu	37	18	48581198	48581198	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr18:48581198G>T	ENST00000342988.3	+	5	1040	c.502G>T	c.(502-504)Gga>Tga	p.G168*	RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_3'UTR|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.G168*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.G168*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	168					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(3)|p.G168*(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGACTTTGAGGGACAGCCATC	0.393000													35	79					4.34311e-12	6.53338e-12	1	1	0
PTH2R	5746	broad.mit.edu	37	2	209315508	209315508	+	Silent	SNP	G	G	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:209315508G>C	ENST00000272847.2	+	8	1101	c.888G>C	c.(886-888)gtG>gtC	p.V296V	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	296						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		CATGGGCTGTGGCACGAGCAA	0.443000													8	76					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17395013	17395013	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr9:17395013G>T	ENST00000380647.3	+	15	2645	c.2561G>T	c.(2560-2562)aGc>aTc	p.S854I	CNTLN_ENST00000262360.5_Missense_Mutation_p.S854I|CNTLN_ENST00000425824.1_Missense_Mutation_p.S854I			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	854						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAGGTTATGAGCAATGTGTTT	0.453000													24	91					1.10923e-09	1.57367e-09	1	1	0
CHRDL1	91851	broad.mit.edu	37	X	109963074	109963074	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chrX:109963074C>A	ENST00000218054.4	-	6	723	c.527G>T	c.(526-528)cGg>cTg	p.R176L	CHRDL1_ENST00000434224.1_Intron|CHRDL1_ENST00000372042.1_Missense_Mutation_p.R177L|CHRDL1_ENST00000394797.4_Missense_Mutation_p.R176L|CHRDL1_ENST00000372045.1_Missense_Mutation_p.R170L|CHRDL1_ENST00000444321.2_Missense_Mutation_p.R176L|CHRDL1_ENST00000482160.1_Intron	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	170					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						TCTGCATACCCGGCAGCAGGA	0.483000													18	42					2.39187e-15	3.81171e-15	1	1	0
ADAMTS9	56999	broad.mit.edu	37	3	64619204	64619204	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr3:64619204C>T	ENST00000498707.1	-	14	2461	c.2119G>A	c.(2119-2121)Gat>Aat	p.D707N	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.D679N	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	707	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GGAGTTCCATCTATCACTCTG	0.498000													34	112					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97084906	97084906	+	Splice_Site	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr12:97084906G>T	ENST00000524981.3	+	11	1435	c.1434_splice	c.e11-1	p.G479_splice				Q6ZTY8	CL063_HUMAN		453										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TCATTTTCAGGGTTTGCTTAG	0.328000													6	35					0.0215528	0.0225883	1	1	0
NAV3	89795	broad.mit.edu	37	12	78604198	78604198	+	Silent	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr12:78604198C>A	ENST00000397909.2	+	40	7232	c.7059C>A	c.(7057-7059)ctC>ctA	p.L2353L	NAV3_ENST00000536525.2_Silent_p.L2331L|NAV3_ENST00000541270.1_Silent_p.L183L|NAV3_ENST00000228327.6_Silent_p.L2331L|NAV3_ENST00000266692.7_Silent_p.L2154L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2353						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TAATGAAACTCCAAGAAGCAG	0.438000										HNSCC(70;0.22)			18	34					8.34094e-07	1.04712e-06	1	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144881511	144881511	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:144881511C>G	ENST00000369359.4	-	28	4134	c.4096G>C	c.(4096-4098)Gat>Cat	p.D1366H	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.D1185H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.D1366H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.D1229H|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.D1229H|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1229					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCTGGAGATCTTGATAGCGT	0.522000			T	PDGFRB	MPD								32	297					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197097663	197097663	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:197097663C>A	ENST00000367409.4	-	10	3149	c.2893G>T	c.(2893-2895)Gtt>Ttt	p.V965F	ASPM_ENST00000294732.7_Missense_Mutation_p.V965F|ASPM_ENST00000367408.1_Missense_Mutation_p.V215F	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	965	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGATTTGTAACGGCAAAATCA	0.388000													15	84					3.45872e-05	4.05065e-05	1	1	0
NCKAP5	344148	broad.mit.edu	37	2	133489570	133489570	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:133489570G>A	ENST00000409261.1	-	17	5556	c.5183C>T	c.(5182-5184)cCa>cTa	p.P1728L	NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1728L|NCKAP5_ENST00000409213.1_Missense_Mutation_p.P409L|NCKAP5_ENST00000405974.3_Missense_Mutation_p.P409L|NCKAP5_ENST00000473859.1_5'UTR	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1728							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCCCGAGTCTGGGAGTGGAAA	0.542000													6	40					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36552834	36552834	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr7:36552834C>A	ENST00000431169.1	-	22	2171	c.1871G>T	c.(1870-1872)tGg>tTg	p.W624L	AOAH_ENST00000535891.1_3'UTR|AOAH_ENST00000258749.5_3'UTR|AOAH_ENST00000538464.1_3'UTR	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	0					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						CTGTGCTCCCCAGGGGTGCAT	0.572000													22	114					6.44725e-10	9.25963e-10	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103355061	103355061	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:103355061C>A	ENST00000358392.2	-	59	4767	c.4450G>T	c.(4450-4452)Gac>Tac	p.D1484Y	COL11A1_ENST00000370096.3_Missense_Mutation_p.D1472Y|COL11A1_ENST00000512756.1_Missense_Mutation_p.D1356Y|COL11A1_ENST00000353414.4_Missense_Mutation_p.D1433Y	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1472	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGCCCTCGGTCACCTTTTTCC	0.413000													14	65					4.7546e-09	6.55872e-09	1	1	0
HAPLN4	404037	broad.mit.edu	37	19	19369375	19369375	+	Silent	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr19:19369375G>T	ENST00000291481.7	-	4	837	c.774C>A	c.(772-774)gcC>gcA	p.A258A	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	258	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			AGCGTTCCTCGGCGTTATGGC	0.706000													11	36					0.000673444	0.000743772	1	1	0
MTMR11	10903	broad.mit.edu	37	1	149908090	149908090	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:149908090C>A	ENST00000439741.2	-	2	349	c.99G>T	c.(97-99)agG>agT	p.R33S	MTMR11_ENST00000369140.3_5'UTR|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Missense_Mutation_p.R33S|MTMR11_ENST00000406732.3_Missense_Mutation_p.R5S	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	33							phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GCTGACGACTCCTGGGCTCCG	0.547000													36	116					1.414e-09	1.98986e-09	1	1	0
MUC6	4588	broad.mit.edu	37	11	1016832	1016832	+	Missense_Mutation	SNP	T	T	C	rs71472140		TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr11:1016832T>C	ENST00000421673.2	-	31	6019	c.5969A>G	c.(5968-5970)cAg>cGg	p.Q1990R		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1990	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTGGTGGTCTGGAAGGATGT	0.562000													75	1958					0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53542950	53542950	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:53542950C>A	ENST00000371500.3	+	8	1098	c.757C>A	c.(757-759)Ctg>Atg	p.L253M	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Missense_Mutation_p.L272M|PODN_ENST00000395871.2_Intron	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	224					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGTCCTCATCCTGTCCAGCAA	0.632000													36	162					2.09667e-21	3.55212e-21	1	1	0
TPR	7175	broad.mit.edu	37	1	186302287	186302287	+	Silent	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:186302287G>T	ENST00000367478.3	-	37	5718	c.5422C>A	c.(5422-5424)Cgg>Agg	p.R1808R		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1808					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GTAGAAGGCCGCTCAACTGGT	0.393000			T	NTRK1	papillary thyroid								22	71					4.16121e-05	4.80882e-05	1	1	0
UNC5B	219699	broad.mit.edu	37	10	73039629	73039629	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr10:73039629C>G	ENST00000335350.6	+	2	547	c.131C>G	c.(130-132)gCa>gGa	p.A44G	UNC5B_ENST00000373192.4_Missense_Mutation_p.A44G	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	44					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TCAGCGCCAGCAGAGCCGCTG	0.637000													9	57					0	0	1	0	0
SRSF7	6432	broad.mit.edu	37	2	38976798	38976798	+	Silent	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:38976798G>T	ENST00000313117.6	-	3	496	c.259C>A	c.(259-261)Cgg>Agg	p.R87R	SRSF7_ENST00000409276.1_Silent_p.R87R|SRSF7_ENST00000446327.2_Silent_p.R87R	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	87					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CGTGATCTCCGAGGCATGCCT	0.413000													11	52					0.000673444	0.000743772	1	1	0
CASP5	838	broad.mit.edu	37	11	104879579	104879579	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr11:104879579G>T	ENST00000393141.2	-	2	206	c.175C>A	c.(175-177)Cag>Aag	p.Q59K	CASP5_ENST00000444749.2_Intron|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393139.2_Missense_Mutation_p.Q13K|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000260315.3_Missense_Mutation_p.Q46K|CASP5_ENST00000526056.1_Missense_Mutation_p.Q59K	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	46	CARD.				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		ACTAGGGTCTGGATAGATGTT	0.358000													46	54					2.00842e-17	3.27541e-17	1	1	0
TMEM246	84302	broad.mit.edu	37	9	104239314	104239314	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr9:104239314C>A	ENST00000374851.1	-	4	1208	c.61G>T	c.(61-63)Ggc>Tgc	p.G21C	RP11-490D19.6_ENST00000431507.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.G21C|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.G21C|RP11-490D19.6_ENST00000425734.1_RNA			Q9BRR3	CI125_HUMAN	transmembrane protein 246	21						integral to membrane											GCAGTGCTGCCCCAGGAGAGT	0.562000													11	48					4.68919e-08	6.27022e-08	1	1	0
HK1	3098	broad.mit.edu	37	10	71146111	71146111	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr10:71146111G>C	ENST00000448642.2	+	18	2366	c.1977G>C	c.(1975-1977)aaG>aaC	p.K659N	HK1_ENST00000494253.1_3'UTR|HK1_ENST00000359426.6_Missense_Mutation_p.K624N|HK1_ENST00000360289.2_Missense_Mutation_p.K612N|HK1_ENST00000298649.3_Missense_Mutation_p.K623N|HK1_ENST00000404387.2_Missense_Mutation_p.K628N			P19367	HXK1_HUMAN	hexokinase 1	624	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						AGGGTTTTAAGGCAACAGACT	0.403000													4	35					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167279814	167279814	+	Silent	SNP	G	G	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:167279814G>T	ENST00000409855.1	-	18	3108	c.2982C>A	c.(2980-2982)gcC>gcA	p.A994A		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	994					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TAGAGAAATAGGCCTTAAAAC	0.323000													6	54					0.0293803	0.0305171	1	1	0
CHODL	140578	broad.mit.edu	37	21	19629022	19629022	+	Silent	SNP	A	A	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr21:19629022A>T	ENST00000299295.2	+	2	667	c.276A>T	c.(274-276)acA>acT	p.T92T	CHODL_ENST00000543733.1_Silent_p.T73T|CHODL_ENST00000400128.1_Silent_p.T51T|CHODL_ENST00000400127.1_Silent_p.T51T|CHODL_ENST00000400131.1_Silent_p.T51T|CHODL_ENST00000338326.3_Silent_p.T51T|CHODL_ENST00000400135.1_Silent_p.T51T	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	92	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		AACCCGGGACAGGGATTTCTG	0.498000													29	119					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40366203	40366203	+	Silent	SNP	C	C	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr19:40366203C>A	ENST00000221347.6	-	30	14038	c.14031G>T	c.(14029-14031)ccG>ccT	p.P4677P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4677	VWFD 11.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGGTGCCAGCGGGCCGTCGG	0.697000													47	51					1.56793e-16	2.52169e-16	1	1	0
SNRNP200	23020	broad.mit.edu	37	2	96944367	96944367	+	Silent	SNP	G	G	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr2:96944367G>A	ENST00000323853.5	-	38	5483	c.5406C>T	c.(5404-5406)atC>atT	p.I1802I	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1802						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CCTCGATGCTGATGCACTTGG	0.582000													19	71					0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101705059	101705059	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:101705059delC	ENST00000305352.6	+	2	894	c.519delC	c.(517-519)atfs	p.I173fs	S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	173					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TCTCCCTCATCCTGGGTGGCC	0.542											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	125	---	---	---	---					
HEATR1	55127	broad.mit.edu	37	1	236766524	236766524	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:236766524delT	ENST00000366582.3	-	3	409	c.295delA	c.(295-297)ttfs	p.I99fs	HEATR1_ENST00000366579.1_Frame_Shift_Del_p.I99fs|HEATR1_ENST00000366581.2_Frame_Shift_Del_p.I99fs	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	99					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GACAAGTGAATAAGGAATAAT	0.403													21	101	---	---	---	---					
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr1:248801602_248801603insCA	ENST00000317450.3	-	1	956_957	c.957_958insTG	c.(955-960)gttcagfs	p.Q320fs		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I320fs*1(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTTCCTGATCACAGTCGCCA	0.545													3	5	---	---	---	---					
DCHS2	54798	broad.mit.edu	37	4	155225908	155225908	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr4:155225908delC	ENST00000357232.3	-	17	4152	c.4153delG	c.(4153-4155)aafs	p.E1385fs		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1385	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCCTGGTTTTCCAGAACCTCA	0.418													9	44	---	---	---	---					
C5orf54	63920	broad.mit.edu	37	5	159821596	159821607	+	In_Frame_Del	DEL	ATGAAATTTATT	ATGAAATTTATT	-			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr5:159821596_159821607delATGAAATTTATT	ENST00000408953.3	-	2	1398_1409	c.891_902delAATAAATTTCAT	c.(889-903)gtc>gt	p.VINFI297del	C5orf54_ENST00000523213.1_In_Frame_Del_p.VINFI297del	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	297										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						tctccctttgatgaaatttattaccctcacca	0.387													24	126	---	---	---	---					
RAB19	401409	broad.mit.edu	37	7	140111716	140111716	+	Frame_Shift_Del	DEL	A	A	-	rs138951503	byFrequency	TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr7:140111716delA	ENST00000275874.5	+	4	583	c.385delA	c.(385-387)tcfs	p.I129fs	RAB19_ENST00000537763.1_Frame_Shift_Del_p.I82fs|RAB19_ENST00000356407.3_Frame_Shift_Del_p.I82fs			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	82					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					CTTCCGCACCATCACCCAAAG	0.582													8	88	---	---	---	---					
TMEM8C	389827	broad.mit.edu	37	9	136384027	136384027	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr9:136384027delC	ENST00000339996.3	-	3	469	c.368delG	c.(367-369)gcfs	p.G123fs	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	123						integral to membrane				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						GATGGCTGTGCCGATGGGGCC	0.612													29	76	---	---	---	---					
HSD17B7P2	158160	broad.mit.edu	37	10	38647619	38647619	+	RNA	DEL	T	T	-			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr10:38647619delT	ENST00000494540.1	+	0	314					NR_003086.1																						tctttctttcttttttttttt	0.438													2	4	---	---	---	---					
JMJD1C	221037	broad.mit.edu	37	10	64950823	64950824	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr10:64950823_64950824delTC	ENST00000399262.2	-	17	6339_6340	c.6121_6122delGA	c.(6121-6123)afs	p.E2041fs	JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Frame_Shift_Del_p.E1859fs|JMJD1C_ENST00000402544.1_Frame_Shift_Del_p.E1804fs	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2041					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GTTGTCTTGTTCTCTTTCTTCT	0.366													22	63	---	---	---	---					
OR52I2	143502	broad.mit.edu	37	11	4608694	4608694	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr11:4608694delG	ENST00000312614.4	+	1	674	c.652delG	c.(652-654)cafs	p.A218fs		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCCAGGTTAGCATGTGCTGA	0.502													60	161	---	---	---	---					
ATN1	1822	broad.mit.edu	37	12	7045880	7045885	+	In_Frame_Del	DEL	CAGCAA	CAGCAA	-			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr12:7045880_7045885delCAGCAA	ENST00000356654.4	+	5	1687_1692	c.1450_1455delCAGCAA	c.(1450-1455)del	p.QQ500del	ATN1_ENST00000396684.2_In_Frame_Del_p.QQ500del	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	500	Poly-Gln.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCATCACCACcagcaacagcaacagc	0.626													7	275	---	---	---	---					
LOC101929735	101929735	broad.mit.edu	37	14	22892201	22892202	+	RNA	INS	-	-	A			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr14:22892201_22892202insA	ENST00000514473.2	-	0	225				AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000537850.1_RNA																							actaaaaatacaaaaaaaaaaa	0.545													2	4	---	---	---	---					
CTC-260E6.6	0	broad.mit.edu	37	19	20262849	20262850	+	RNA	INS	-	-	T	rs142097873		TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chr19:20262849_20262850insT	ENST00000593655.1	-	0	337				CTC-260E6.6_ENST00000586657.1_RNA																							TTTCttttttcttttttttttt	0.470													4	2	---	---	---	---					
FAM47A	158724	broad.mit.edu	37	X	34148479	34148480	+	Frame_Shift_Ins	INS	-	-	T			TCGA-MP-A4TC-01A-11D-A24P-08	TCGA-MP-A4TC-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344dbf43-5c56-4d69-8471-a67593c2ef28	aac494d5-f57d-486b-9e53-1b401172978d	g.chrX:34148479_34148480insT	ENST00000346193.3	-	1	1967_1968	c.1916_1917insA	c.(1915-1917)cgafs	p.R639fs		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	639										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTTGGTCCTCATGGGTTGCTCT	0.441													27	34	---	---	---	---