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
OR10Z1	128368	broad.mit.edu	37	1	158576474	158576474	+	Silent	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:158576474C>T	ENST00000361284.1	+	1	246	c.246C>T	c.(244-246)ctC>ctT	p.L82L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L82L(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTAGAATGCTCTCTGGCCTGG	0.547000													67	144					0	0	1	0	0
DBX1	120237	broad.mit.edu	37	11	20178009	20178009	+	Silent	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:20178009C>T	ENST00000524983.2	-	4	1071	c.783G>A	c.(781-783)ccG>ccA	p.P261P	DBX1_ENST00000227256.3_Silent_p.P300P			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	261					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GGTCCGGGTGCGGATTGAGCT	0.677000													10	27					0	0	1	0	0
C3orf17	25871	broad.mit.edu	37	3	112732831	112732831	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr3:112732831T>C	ENST00000314400.5	-	3	501	c.310A>G	c.(310-312)Att>Gtt	p.I104V	C3orf17_ENST00000393857.2_5'UTR|C3orf17_ENST00000383675.2_Missense_Mutation_p.I104V	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	104						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						AGGTCTTGAATTGAGCCCTCC	0.413000													148	204					0	0	1	0	0
MSL3	10943	broad.mit.edu	37	X	11790285	11790285	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chrX:11790285G>A	ENST00000380693.3	+	10	1431	c.794G>A	c.(793-795)tGg>tAg	p.W265*	MSL3_ENST00000361672.2_Nonsense_Mutation_p.W282*|MSL3_ENST00000398527.2_Nonsense_Mutation_p.W419*|MSL3_ENST00000312196.4_Nonsense_Mutation_p.W431*	NM_006800.3	NP_006791.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	431					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						GTCCTCTCCTGGAAGCTTGTG	0.448000													83	50					0	0	1	0	0
KANK3	256949	broad.mit.edu	37	19	8389896	8389896	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:8389896T>A	ENST00000330915.3	-	8	2086	c.2021A>T	c.(2020-2022)gAg>gTg	p.E674V	KANK3_ENST00000593649.1_Missense_Mutation_p.E674V	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	674										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						AGCCATGTCCTCCTCTTCCTG	0.632000													27	49					0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30260493	30260493	+	Silent	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr18:30260493G>A	ENST00000359358.4	-	6	1746	c.1308C>T	c.(1306-1308)ggC>ggT	p.G436G		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	436						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TGGACAAGTAGCCAGTTTCAT	0.473000													7	42					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53945872	53945872	+	RNA	SNP	C	C	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:53945872C>G	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATGCCCCAGTCCCACCCTGCT	0.532000													10	57					0	0	1	0	0
PHF14	9678	broad.mit.edu	37	7	11053505	11053505	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr7:11053505G>C	ENST00000403050.3	+	5	1629	c.1177G>C	c.(1177-1179)Gga>Cga	p.G393R	PHF14_ENST00000445996.2_Missense_Mutation_p.G108R	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	393							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TAATCAGGATGGAATTTTCAA	0.393000													11	23					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176700720	176700720	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr5:176700720G>T	ENST00000439151.2	+	17	5602	c.5557G>T	c.(5557-5559)Gag>Tag	p.E1853*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.E1584*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.E1584*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.E1750*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1853					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGCCCAAAAAGAGCTAAGACA	0.428000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			42	43					5.20837e-25	6.48153e-25	1	1	0
TNFSF13	8741	broad.mit.edu	37	17	7463379	7463379	+	Silent	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr17:7463379G>A	ENST00000349228.4	+	3	915	c.351G>A	c.(349-351)gtG>gtA	p.V117V	TNFSF13_ENST00000338784.4_Silent_p.V133V|TNFSF13_ENST00000380535.4_Silent_p.V105V|TNFSF13_ENST00000396545.4_Silent_p.V133V|TNFSF13_ENST00000483039.1_5'UTR|TNFSF12_ENST00000557233.1_Silent_p.V213V|TNFSF12-TNFSF13_ENST00000293826.4_Silent_p.V213V|TNFSF13_ENST00000396542.1_Silent_p.V88V	NM_172087.2	NP_742084.1			tumor necrosis factor (ligand) superfamily, member 13											large_intestine(2)|lung(2)|skin(1)	5		Prostate(122;0.157)				ACTCCGATGTGACAGAGGTGA	0.517000											OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	71					0	0	1	0	0
WNT3	7473	broad.mit.edu	37	17	44851059	44851059	+	Silent	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr17:44851059G>A	ENST00000225512.5	-	2	459	c.297C>T	c.(295-297)gcC>gcT	p.A99A		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	99					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCCCAAAGATGGCCAGGCTGT	0.672000													18	23					0	0	1	0	0
TMTC2	160335	broad.mit.edu	37	12	83424619	83424619	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:83424619G>C	ENST00000549919.1	+	10	3900	c.2095G>C	c.(2095-2097)Gag>Cag	p.E699Q	TMTC2_ENST00000321196.3_Missense_Mutation_p.E705Q			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	705						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GAAGGCTATTGAGCTGGATCC	0.403000													22	73					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53572344	53572344	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:53572344G>C	ENST00000601421.1	-	3	2211	c.1335C>G	c.(1333-1335)ttC>ttG	p.F445L	ZNF160_ENST00000429604.1_Missense_Mutation_p.F481L|ZNF160_ENST00000418871.1_Missense_Mutation_p.F481L|ZNF160_ENST00000599056.1_Missense_Mutation_p.F481L			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	481					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CATTGCATTTGAAAGGTTTTG	0.393000													55	141					0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6618931	6618931	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:6618931A>C	ENST00000315579.5	+	3	975	c.176A>C	c.(175-177)cAc>cCc	p.H59P	NCAPD2_ENST00000545962.1_Missense_Mutation_p.T34P	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	59	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						ATGCTGCAGCACTTTGATACT	0.433000													50	188					0	0	1	0	0
LOC643733	643733	broad.mit.edu	37	11	104778250	104778250	+	RNA	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:104778250C>T	ENST00000532510.1	-	0	1182																											CACACATTCCCCCCAGGATGC	0.507000													11	14					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140409854	140409854	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr3:140409854G>T	ENST00000286349.3	+	4	2096	c.1905G>T	c.(1903-1905)atG>atT	p.M635I		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	635	Fibronectin type-III.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTTTTGAGATGGAATTCTATG	0.418000													34	169					3.93418e-24	4.85987e-24	1	1	0
ZNF519	162655	broad.mit.edu	37	18	14106177	14106177	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr18:14106177T>C	ENST00000590202.1	-	3	514	c.362A>G	c.(361-363)tAt>tGt	p.Y121C	ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						AAATATTCTATATTCTTTGTC	0.318000													45	41					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			21	69					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109691304	109691304	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr9:109691304A>T	ENST00000277225.5	+	3	5400	c.5111A>T	c.(5110-5112)tAc>tTc	p.Y1704F	ZNF462_ENST00000457913.1_Missense_Mutation_p.Y1704F|ZNF462_ENST00000441147.2_Missense_Mutation_p.Y549F			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1704					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CTGTGTGCCTACACCAACCCC	0.567000													23	65					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5221131	5221131	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:5221131G>A	ENST00000372412.4	-	20	3571	c.3338C>T	c.(3337-3339)aCg>aTg	p.T1113M	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.T1090M|PTPRS_ENST00000353284.2_Missense_Mutation_p.T681M|PTPRS_ENST00000587303.1_Missense_Mutation_p.T1112M|PTPRS_ENST00000357368.4_Missense_Mutation_p.T1112M|PTPRS_ENST00000348075.2_Missense_Mutation_p.T1090M|PTPRS_ENST00000592099.1_Missense_Mutation_p.T681M|PTPRS_ENST00000262963.6_Missense_Mutation_p.T1108M			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1112	Fibronectin type-III 8.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGCGGTGACCGTCTGCTGGAG	0.617000													44	84					0	0	1	0	0
RBMY2EP	159125	broad.mit.edu	37	Y	23562838	23562838	+	RNA	SNP	T	T	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chrY:23562838T>G	ENST00000444169.1	-	0	160					NR_001574.2																						GCAGCATTCTTAACATCTGCA	0.318000													36	14					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145304642	145304642	+	Silent	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:145304642C>T	ENST00000342960.5	+	10	1610	c.1575C>T	c.(1573-1575)caC>caT	p.H525H	NBPF10_ENST00000369339.2_Silent_p.H254H|NBPF10_ENST00000369338.1_Silent_p.H254H|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	525										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ATGCTGTACACATTATTCCAG	0.418000													59	607					0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128680581	128680581	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:128680581G>T	ENST00000344954.6	+	9	1346	c.958G>T	c.(958-960)Ggc>Tgc	p.G320C	FLI1_ENST00000429175.2_Missense_Mutation_p.G353C|FLI1_ENST00000281428.8_Missense_Mutation_p.G287C|FLI1_ENST00000525560.1_Missense_Mutation_p.G160C|FLI1_ENST00000534087.1_Missense_Mutation_p.G320C			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	353					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CAAAGTGCACGGCAAAAGATA	0.502000			T	EWSR1	Ewing sarcoma								16	38					8.00594e-06	8.67741e-06	1	1	0
CRISP3	10321	broad.mit.edu	37	6	49696507	49696507	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr6:49696507C>A	ENST00000433368.2	-	8	812	c.743G>T	c.(742-744)tGt>tTt	p.C248F	CRISP3_ENST00000263045.4_Missense_Mutation_p.C238F|CRISP3_ENST00000423399.2_Missense_Mutation_p.C135F|CRISP3_ENST00000393666.1_Missense_Mutation_p.C225F|CRISP3_ENST00000371159.4_Missense_Mutation_p.C256F	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	225					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTGATGTTTACAGGTTAATGT	0.383000													31	81					8.58068e-18	1.03709e-17	1	1	0
TET3	200424	broad.mit.edu	37	2	74274706	74274706	+	Silent	SNP	T	T	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:74274706T>A	ENST00000409262.3	+	1	1257	c.1257T>A	c.(1255-1257)ccT>ccA	p.P419P		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	419							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTCAGAGCCTTCTGCTCCTG	0.612000													12	20					0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878869	5878869	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:5878869C>G	ENST00000537935.1	-	1	95	c.64G>C	c.(64-66)Ggt>Cgt	p.G22R	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGGGATACCCAGCAGTAGG	0.448000													49	154					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072765	17072765	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr22:17072765C>A	ENST00000359963.3	-	1	935	c.676G>T	c.(676-678)Ggg>Tgg	p.G226W		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	226					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAGAGCTTCCCAGATATTGCT	0.607000													30	104					6.38683e-12	7.50341e-12	1	1	0
OR5K4	403278	broad.mit.edu	37	3	98072869	98072869	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr3:98072869C>A	ENST00000354924.2	+	1	172	c.172C>A	c.(172-174)Cca>Aca	p.P58T	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TCTTCTCACACCAATGTACAT	0.463000													117	431					1.19196e-58	1.50563e-58	1	1	0
PHF21B	112885	broad.mit.edu	37	22	45309885	45309885	+	Silent	SNP	G	G	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr22:45309885G>C	ENST00000313237.5	-	5	798	c.648C>G	c.(646-648)ccC>ccG	p.P216P	PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000396103.3_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	216							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		gtgatggggagggaggggtga	0.642000													31	17					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15760797	15760797	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr10:15760797G>A	ENST00000378076.3	-	2	664	c.311C>T	c.(310-312)gCg>gTg	p.A104V		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	104					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCTGCACTGCGCAGACCCCTC	0.602000													4	159					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86044044	86044044	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr8:86044044G>T	ENST00000414626.2	+	11	2645	c.1756G>T	c.(1756-1758)Gcc>Tcc	p.A586S	LRRCC1_ENST00000360375.3_Missense_Mutation_p.A606S			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	606					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CTTCCAGGATGCCTTAGCTAA	0.353000													19	45					1.00905e-13	1.1938e-13	1	1	0
DPY19L2P2	349152	broad.mit.edu	37	7	102912208	102912208	+	RNA	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr7:102912208C>T	ENST00000312132.4	-	0	2371																											CGTTTTACTGCATTAATTACA	0.333000													6	88					0	0	1	0	0
SCLT1	132320	broad.mit.edu	37	4	129867198	129867198	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr4:129867198G>A	ENST00000281142.5	-	16	1906	c.1403C>T	c.(1402-1404)aCg>aTg	p.T468M	SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	468						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTCTGCTCTCGTAAGTCTTAG	0.343000													6	42					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200967613	200967613	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:200967613C>T	ENST00000332129.2	-	14	2292	c.1976G>A	c.(1975-1977)cGg>cAg	p.R659Q	KIF21B_ENST00000360529.5_Missense_Mutation_p.R659Q|KIF21B_ENST00000461742.2_Missense_Mutation_p.R659Q|KIF21B_ENST00000422435.2_Missense_Mutation_p.R659Q	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	659					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CGTCTGCAACCGCCGCTGGCT	0.572000													41	113					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19443725	19443725	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chrX:19443725C>T	ENST00000338883.4	-	9	1362	c.1363G>A	c.(1363-1365)Gtc>Atc	p.V455I	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.V287I	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	455							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					AGCATGCTGACGCTGAAGAAC	0.478000													13	6					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr17:7578461C>A	ENST00000420246.2	-	5	601	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000269305.4_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (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.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(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)		ATGGCGCGGACGCGGGTGCCG	0.617000		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)			34	69					1.26612e-14	1.51934e-14	1	1	0
MAP7D2	256714	broad.mit.edu	37	X	20062588	20062588	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chrX:20062588T>A	ENST00000379651.3	-	6	668	c.650A>T	c.(649-651)aAg>aTg	p.K217M	MAP7D2_ENST00000379643.5_Missense_Mutation_p.K258M|MAP7D2_ENST00000543767.1_Missense_Mutation_p.K102M|MAP7D2_ENST00000452324.3_Missense_Mutation_p.K165M|MAP7D2_ENST00000443379.3_Missense_Mutation_p.K172M	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	217										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GGGTGAAGACTTGTAAGAAGG	0.463000													64	37					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135920	55135920	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:55135920A>T	ENST00000314706.3	+	1	561	c.561A>T	c.(559-561)caA>caT	p.Q187H		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CATTGGTTCAATTTCTCTTTA	0.423000													65	148					0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	69811633	69811633	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chrX:69811633C>A	ENST00000395889.2	-	26	2308	c.2153G>T	c.(2152-2154)tGc>tTc	p.C718F	TEX11_ENST00000374320.2_Missense_Mutation_p.C393F|TEX11_ENST00000374333.2_Missense_Mutation_p.C703F|TEX11_ENST00000344304.3_Missense_Mutation_p.C718F	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	718							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GATGTCATTGCATGTCTGGAT	0.383000													16	13					2.94398e-08	3.31939e-08	1	1	0
KIF14	9928	broad.mit.edu	37	1	200534364	200534364	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:200534364C>T	ENST00000367350.4	-	25	4342	c.3904G>A	c.(3904-3906)Gca>Aca	p.A1302T		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1302	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GACTGGATTGCTCGATCAGAA	0.338000													4	153					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10610310	10610310	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:10610310C>A	ENST00000171111.5	-	2	947	c.400G>T	c.(400-402)Gag>Tag	p.E134*	KEAP1_ENST00000393623.2_Nonsense_Mutation_p.E134*	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	134	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			ATGAGGCGCTCCATGACCTTG	0.587000													12	41					0.010729	0.0109241	1	1	0
RYR3	6263	broad.mit.edu	37	15	33990140	33990140	+	Silent	SNP	C	C	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr15:33990140C>G	ENST00000389232.4	+	40	6262	c.6192C>G	c.(6190-6192)ggC>ggG	p.G2064G	RYR3_ENST00000415757.3_Silent_p.G2064G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2064	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGTCCTGGGCATGCACGAGA	0.468000													29	87					0	0	1	0	0
WT1	7490	broad.mit.edu	37	11	32456486	32456486	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:32456486G>T	ENST00000332351.3	-	1	690	c.406C>A	c.(406-408)Cct>Act	p.P136T	WT1_ENST00000448076.3_Missense_Mutation_p.P136T	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	68					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			AAGGAGTGAggcggcggcggc	0.736000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				3	8					0.115264	0.115954	1	1	0
PDE4DIP	9659	broad.mit.edu	37	1	145021132	145021132	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:145021132G>T	ENST00000369359.4	-	2	307	c.269C>A	c.(268-270)cCc>cAc	p.P90H	PDE4DIP_ENST00000478649.2_Missense_Mutation_p.P19H|PDE4DIP_ENST00000493130.2_Missense_Mutation_p.P19H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.P19H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.P90H|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.P90H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.P90H(1)		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)		ACTCGTTCTGGGTACCATCTC	0.438000			T	PDGFRB	MPD								8	185					2.74318e-10	3.20038e-10	1	1	0
PTEN	5728	broad.mit.edu	37	10	89692922	89692922	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr10:89692922T>C	ENST00000371953.3	+	5	1763	c.406T>C	c.(406-408)Tgt>Cgt	p.C136R		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	136	Phosphatase tensin-type.		C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P3).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.C136R(4)|p.I135fs*44(3)|p.C136fs*1(2)|p.Y27fs*1(2)|p.I135_A137>T(1)|p.A121_F145del(1)|p.I135fs*6(1)|p.T131fs*42(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTAATGATATGTGCATATTT	0.388000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			44	100					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6653330	6653330	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:6653330C>A	ENST00000299441.3	-	6	3824	c.3413G>T	c.(3412-3414)gGa>gTa	p.G1138V	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1138	Cadherin 11.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTCAGACGTCCATTGGGTCC	0.602000													8	20					3.09899e-07	3.44788e-07	1	1	0
RARG	5916	broad.mit.edu	37	12	53608237	53608237	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:53608237T>C	ENST00000425354.2	-	6	1116	c.629A>G	c.(628-630)tAt>tGt	p.Y210C	RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Missense_Mutation_p.Y210C|RARG_ENST00000338561.5_Missense_Mutation_p.Y199C|RARG_ENST00000327550.3_Missense_Mutation_p.Y138C|RARG_ENST00000543726.1_Missense_Mutation_p.Y188C	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	210	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CACCGTGGTATACTTGCCCAG	0.572000													25	51					0	0	1	0	0
POLK	51426	broad.mit.edu	37	5	74872759	74872759	+	Splice_Site	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr5:74872759G>A	ENST00000241436.4	+	6	866		c.e6+1		POLK_ENST00000504026.1_Splice_Site|POLK_ENST00000508526.1_Splice_Site|POLK_ENST00000352007.5_Splice_Site|POLK_ENST00000506928.1_Splice_Site|POLK_ENST00000515295.1_Splice_Site|POLK_ENST00000380481.3_Splice_Site	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa						DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GTAGAAAATGGTAAGCAACTT	0.328000								DNA polymerases (catalytic subunits)					27	24					0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110491851	110491851	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chrX:110491851C>G	ENST00000324068.1	-	10	1597	c.1430G>C	c.(1429-1431)gGt>gCt	p.G477A	CAPN6_ENST00000541758.1_Missense_Mutation_p.G222A	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	477	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GCTGGTGCGACCATGCTGGAA	0.512000													15	11					0	0	1	0	0
THBS3	7059	broad.mit.edu	37	1	155165687	155165687	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:155165687G>T	ENST00000368378.3	-	23	2836	c.2816C>A	c.(2815-2817)aCa>aAa	p.T939K	THBS3_ENST00000541990.1_Missense_Mutation_p.T468K|THBS3_ENST00000541576.1_Missense_Mutation_p.T336K|THBS3_ENST00000457183.2_Missense_Mutation_p.T819K|THBS3_ENST00000487250.1_5'UTR	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	939	TSP C-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTCAGGCACTGTGTCTGAAGA	0.512000													43	146					6.68952e-21	8.14376e-21	1	1	0
GRIN1	2902	broad.mit.edu	37	9	140055590	140055590	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr9:140055590A>T	ENST00000371561.3	+	9	2377	c.1280A>T	c.(1279-1281)aAc>aTc	p.N427I	GRIN1_ENST00000350902.5_Missense_Mutation_p.N427I|GRIN1_ENST00000371559.4_Missense_Mutation_p.N427I|GRIN1_ENST00000371555.4_Missense_Mutation_p.N448I|GRIN1_ENST00000371546.4_Missense_Mutation_p.N448I|GRIN1_ENST00000315048.3_Missense_Mutation_p.N427I|GRIN1_ENST00000371550.4_Missense_Mutation_p.N427I|GRIN1_ENST00000371553.3_Missense_Mutation_p.N448I|GRIN1_ENST00000371560.3_Missense_Mutation_p.N448I|GRIN1_ENST00000471122.1_3'UTR	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	427					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TTCACAGTCAACGGCGACCCA	0.672000													21	29					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920787	4920787	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:4920787C>T	ENST00000433855.1	+	1	2446	c.1580C>T	c.(1579-1581)aCg>aTg	p.T527M	KCNA6_ENST00000280684.3_Missense_Mutation_p.T527M	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	527						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						AGAATGCTCACGGAGGTCTGA	0.557000										HNSCC(72;0.22)			63	81					0	0	1	0	0
ARMC8	25852	broad.mit.edu	37	3	137964058	137964058	+	Silent	SNP	G	G	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr3:137964058G>T	ENST00000358441.2	+	13	1510	c.1125G>T	c.(1123-1125)ctG>ctT	p.L375L	ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000491704.1_Intron|ARMC8_ENST00000489213.1_Silent_p.L347L|ARMC8_ENST00000393058.3_Intron|ARMC8_ENST00000485396.1_Intron|ARMC8_ENST00000481646.1_Intron|ARMC8_ENST00000471453.1_Silent_p.L375L|ARMC8_ENST00000470821.1_Silent_p.L389L|ARMC8_ENST00000469044.1_Intron|ARMC8_ENST00000538260.1_Intron	NM_014154.3|NM_213654.2	NP_054873.2|NP_998819.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	0							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						CCCCAGTCCTGACAGCCAGCA	0.507000													23	63					6.44725e-10	7.41876e-10	1	1	0
GAB4	128954	broad.mit.edu	37	22	17469020	17469020	+	Silent	SNP	G	G	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr22:17469020G>C	ENST00000400588.1	-	3	623	c.516C>G	c.(514-516)ctC>ctG	p.L172L	GAB4_ENST00000523144.1_Intron	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	172										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GAGAAGAGCAGAGGCCGTGAC	0.572000													5	12					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125530440	125530440	+	Silent	SNP	T	T	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:125530440T>A	ENST00000431078.1	+	17	2959	c.2595T>A	c.(2593-2595)tcT>tcA	p.S865S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	865	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TAGTCCAGTCTCCTTCTCTTC	0.527000													54	120					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102912190	102912190	+	RNA	SNP	T	T	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr7:102912190T>G	ENST00000312132.4	-	0	2389																											TCTGGATAAATATGGAAGCGT	0.343000													6	84					0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125438655	125438655	+	Silent	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:125438655G>A	ENST00000308736.2	-	19	2654	c.2556C>T	c.(2554-2556)ctC>ctT	p.L852L	DHX37_ENST00000544745.1_Silent_p.L639L	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	852							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.L852L(1)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TGAGGTCGCCGAGCTTCAGAG	0.672000													19	22					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95670747	95670747	+	Silent	SNP	G	G	A	rs116066710	byFrequency	TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr14:95670747G>A	ENST00000298912.4	-	9	1052	c.939C>T	c.(937-939)cgC>cgT	p.R313R		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	313						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TTTCTTTGATGCGAACAAAAG	0.378000													28	89					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	187						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627000													5	18					0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70970893	70970893	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr8:70970893C>G	ENST00000276594.2	-	6	1569	c.1368G>C	c.(1366-1368)gaG>gaC	p.E456D		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCCGGTGCTTCTCATGAACAT	0.527000													25	82					0	0	1	0	0
SGSH	6448	broad.mit.edu	37	17	78184602	78184602	+	Silent	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr17:78184602G>A	ENST00000326317.6	-	8	1244	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	SGSH_ENST00000534910.1_Silent_p.L183L	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	386			L -> R (in MPS3A).		proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity	p.L386L(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GGTTGTGCACGAGGCGGAAGT	0.627000													36	70					0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159276016	159276016	+	Silent	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:159276016C>T	ENST00000368115.1	+	5	669	c.570C>T	c.(568-570)ctC>ctT	p.L190L	FCER1A_ENST00000368114.1_Silent_p.L157L	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	190	Ig-like 2.					integral to plasma membrane		p.L190L(1)		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)	CTGAGCCCCTCAACATTACTG	0.463000													22	43					0	0	1	0	0
ZNF329	79673	broad.mit.edu	37	19	58639245	58639245	+	Silent	SNP	T	T	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:58639245T>C	ENST00000598312.1	-	4	1859	c.1626A>G	c.(1624-1626)taA>taG	p.*542*	ZNF329_ENST00000358067.4_Silent_p.*542*	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		CCCCCAACCATTATGTTTCCA	0.493000													57	109					0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42264705	42264705	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr22:42264705G>A	ENST00000361204.4	+	3	795	c.629G>A	c.(628-630)cGg>cAg	p.R210Q		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	210	Gln-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CAGGCCCAGCGGGTGCTGACA	0.617000													46	21					0	0	1	0	0
EREG	2069	broad.mit.edu	37	4	75248411	75248411	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr4:75248411G>A	ENST00000244869.2	+	4	494	c.328G>A	c.(328-330)Gtc>Atc	p.V110I	EREG_ENST00000503689.1_3'UTR	NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	110					angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			CTTTTTAACCGTCCACCAACC	0.373000													58	60					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51254857	51254857	+	Silent	SNP	A	A	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:51254857A>T	ENST00000404971.1	-	2	1894	c.555T>A	c.(553-555)cgT>cgA	p.R185R	NRXN1_ENST00000406316.2_Silent_p.R185R|NRXN1_ENST00000405472.3_Silent_p.R185R|NRXN1_ENST00000401669.2_Silent_p.R185R|NRXN1_ENST00000402717.3_Silent_p.R185R|NRXN1_ENST00000405581.1_Silent_p.R185R|NRXN1_ENST00000406859.3_Silent_p.R185R	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	185	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCCTCACGTCACGAATCCACC	0.706000													6	18					0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19548505	19548505	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr16:19548505A>G	ENST00000396212.2	+	5	1950	c.1514A>G	c.(1513-1515)cAt>cGt	p.H505R	CCP110_ENST00000396208.2_Missense_Mutation_p.H505R|CCP110_ENST00000381396.5_Missense_Mutation_p.H505R	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	505	Interaction with CEP76.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CCAAAGCTGCATGAACCATAT	0.453000													17	81					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	23847620	23847620	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr16:23847620C>T	ENST00000303531.7	+	1	276	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	PRKCB_ENST00000321728.7_Missense_Mutation_p.R42C|PRKCB_ENST00000498058.1_Missense_Mutation_p.R42C	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	42					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	ATTCACCGCCCGCTTCTTCAA	0.687000													13	203					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17029228	17029228	+	RNA	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:17029228G>A	ENST00000492551.1	-	0	1137					NR_026567.1																						TCCACGTGGCGGAGTTTGTTC	0.627000													13	216					0	0	1	0	0
POMT2	29954	broad.mit.edu	37	14	77786986	77786986	+	Silent	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr14:77786986C>T	ENST00000261534.4	-	1	241	c.39G>A	c.(37-39)gaG>gaA	p.E13E		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	13					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GGGGACGCAGCTCGGACTCTG	0.751000													7	17					0	0	1	0	0
MC4R	4160	broad.mit.edu	37	18	58039270	58039270	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr18:58039270T>C	ENST00000299766.3	-	1	731	c.313A>G	c.(313-315)Acc>Gcc	p.T105A		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	105					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TTTAATAGGGTGATGACAATG	0.423000													19	103					0	0	1	0	0
PTPN4	5775	broad.mit.edu	37	2	120709607	120709607	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:120709607G>A	ENST00000263708.2	+	19	2486	c.1715G>A	c.(1714-1716)cGg>cAg	p.R572Q	PTPN4_ENST00000544261.1_Missense_Mutation_p.R205Q	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	572	PDZ.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ATCAATGGTCGGGACATTGCA	0.428000													30	72					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44685013	44685013	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr7:44685013C>G	ENST00000222673.5	+	3	352	c.310C>G	c.(310-312)Ctg>Gtg	p.L104V	OGDH_ENST00000449767.1_Missense_Mutation_p.L104V|OGDH_ENST00000447398.1_Missense_Mutation_p.L104V|OGDH_ENST00000443864.2_Missense_Mutation_p.L104V|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000444676.1_Missense_Mutation_p.L104V|OGDH_ENST00000543843.1_Missense_Mutation_p.L44V	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	104					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CCGAGGCTCCCTGGCTGCTGT	0.592000													32	91					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8248168	8248168	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr18:8248168A>G	ENST00000580170.1	+	17	3585	c.2548A>G	c.(2548-2550)Att>Gtt	p.I850V	PTPRM_ENST00000332175.8_Intron|PTPRM_ENST00000444013.1_Intron|PTPRM_ENST00000400053.4_Intron|PTPRM_ENST00000400060.4_Missense_Mutation_p.I850V	NM_001105244.1	NP_001098714.1	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	842					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCCAACTGCAATTTTAGGTGA	0.388000													153	128					0	0	1	0	0
MLNR	2862	broad.mit.edu	37	13	49796314	49796314	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr13:49796314G>A	ENST00000218721.1	+	2	1040	c.1040G>A	c.(1039-1041)aGc>aAc	p.S347N	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	347					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|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;6.1e-09)		TTCTATCTGAGCGCATCTATC	0.468000													98	255					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43606838	43606838	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr10:43606838T>G	ENST00000355710.3	+	7	1679	c.1447T>G	c.(1447-1449)Tac>Gac	p.Y483D	RET_ENST00000340058.5_Missense_Mutation_p.Y483D	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	483					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CGAACTTCACTACATGGTGGT	0.632000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				32	60					0	0	1	0	0
METAP2	10988	broad.mit.edu	37	12	95869846	95869846	+	Splice_Site	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:95869846G>A	ENST00000323666.5	+	2	380		c.e2-1		METAP2_ENST00000551840.1_Intron|METAP2_ENST00000550777.1_Intron|METAP2_ENST00000546753.1_Splice_Site|METAP2_ENST00000261220.9_Intron	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2						N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	ATTTTGATCAGCAGGGGAACA	0.378000													16	26					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46329491	46329491	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:46329491C>A	ENST00000245934.7	-	17	2566	c.2322G>T	c.(2320-2322)aaG>aaT	p.K774N		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	774					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		AACCTGTGTCCTTGTCAGCTC	0.597000													6	18					0.00116845	0.00121925	1	1	0
C10orf71	118461	broad.mit.edu	37	10	50531159	50531159	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr10:50531159C>T	ENST00000374144.3	+	3	857	c.569C>T	c.(568-570)tCt>tTt	p.S190F	C10orf71_ENST00000323868.4_Missense_Mutation_p.S190F			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	190										endometrium(1)	1						TGCTTCGATTCTGCCTTTCTG	0.547000													8	33					0	0	1	0	0
KATNA1	11104	broad.mit.edu	37	6	149918671	149918671	+	Silent	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr6:149918671C>T	ENST00000367411.2	-	9	1380	c.1122G>A	c.(1120-1122)gaG>gaA	p.E374E	KATNA1_ENST00000494504.1_5'UTR|KATNA1_ENST00000335643.8_Silent_p.E298E|KATNA1_ENST00000335647.5_Silent_p.E374E	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	374					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AGATTCGTTTCTCAAGGCGTC	0.378000													31	43					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481789	142481789	+	RNA	SNP	T	T	C	rs140267598	by1000genomes	TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr7:142481789T>C	ENST00000603901.1	+	0	468					NR_001296.3																						ACTACCCAGATGAGCTGCAGT	0.488000													4	65					0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36262089	36262089	+	Silent	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr6:36262089C>T	ENST00000394571.2	+	4	627	c.627C>T	c.(625-627)caC>caT	p.H209H	PNPLA1_ENST00000312917.5_Silent_p.H123H|PNPLA1_ENST00000388715.3_Silent_p.H114H	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	209					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CCATCTTCCACGACTTCCGCA	0.622000													18	72					0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	54025547	54025547	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr6:54025547G>C	ENST00000514921.1	+	8	2529	c.2416G>C	c.(2416-2418)Gat>Cat	p.D806H	MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370877.2_Missense_Mutation_p.D178H|MLIP_ENST00000502396.1_Missense_Mutation_p.D817H|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000274897.5_Missense_Mutation_p.D282H|MLIP_ENST00000509997.1_Intron			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	282						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GCATTCTTCTGATTCTCCTTC	0.338000													33	99					0	0	1	0	0
CREB3L1	90993	broad.mit.edu	37	11	46337910	46337910	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:46337910G>A	ENST00000529193.1	+	9	1556	c.1105G>A	c.(1105-1107)Gcc>Acc	p.A369T	CREB3L1_ENST00000534616.1_Intron|CREB3L1_ENST00000288400.3_Missense_Mutation_p.A369T			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	369					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CAAGATGGCCGCCACCCAGAC	0.597000			T	FUS	myxofibrosarcoma								3	10					0	0	1	0	0
HIAT1	64645	broad.mit.edu	37	1	100533616	100533616	+	Silent	SNP	G	G	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:100533616G>C	ENST00000370152.3	+	6	706	c.570G>C	c.(568-570)gtG>gtC	p.V190V	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	190					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		ACAGCTTGGTGGTGGTCTTAG	0.458000													35	88					0	0	1	0	0
POMT2	29954	broad.mit.edu	37	14	77786985	77786985	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr14:77786985G>T	ENST00000261534.4	-	1	242	c.40C>A	c.(40-42)Ctg>Atg	p.L14M		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	14					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		CGGGGACGCAGCTCGGACTCT	0.751000													7	16					1	1	1	1	0
TRBV5-7	28608	broad.mit.edu	37	7	142111625	142111625	+	RNA	SNP	G	G	T	rs143168323	by1000genomes	TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr7:142111625G>T	ENST00000390378.1	-	0	110																											TCAGAGTCACGTGCTGTCCTC	0.532000													4	150					1.12685e-05	1.21353e-05	1	1	0
SERPINA9	327657	broad.mit.edu	37	14	94933514	94933514	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr14:94933514C>G	ENST00000337425.5	-	3	962	c.888G>C	c.(886-888)aaG>aaC	p.K296N	SERPINA9_ENST00000298845.7_Missense_Mutation_p.K196N|SERPINA9_ENST00000546329.1_Missense_Mutation_p.K260N|SERPINA9_ENST00000448305.2_Missense_Mutation_p.K198N|SERPINA9_ENST00000424550.2_Missense_Mutation_p.K147N|SERPINA9_ENST00000380365.3_Missense_Mutation_p.K278N	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	278					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GTTGCCTCATCTTGCCCTTGC	0.532000													24	54					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10397556	10397556	+	Silent	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:10397556C>T	ENST00000377086.1	+	31	3589	c.3387C>T	c.(3385-3387)atC>atT	p.I1129I	KIF1B_ENST00000263934.6_Silent_p.I1083I|KIF1B_ENST00000377081.1_Silent_p.I1129I			O60333	KIF1B_HUMAN	kinesin family member 1B	1129					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCAGTGGAATCCTCCCAGAGT	0.502000													55	124					0	0	1	0	0
SFXN5	94097	broad.mit.edu	37	2	73198781	73198781	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:73198781C>A	ENST00000272433.2	-	11	789	c.659G>T	c.(658-660)cGg>cTg	p.R220L	SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_Intron	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	220					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						CTCCCCGTACCGCATCAGGAC	0.602000													9	36					1.58986e-06	1.7344e-06	1	1	0
HMX2	3167	broad.mit.edu	37	10	124909540	124909540	+	Silent	SNP	G	G	A	rs139853496		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr10:124909540G>A	ENST00000339992.3	+	2	980	c.723G>A	c.(721-723)ccG>ccA	p.P241P		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	241					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		TGCGCGTGCCGGTGCCGCGCT	0.647000													3	12					0	0	1	0	0
CHTOP	26097	broad.mit.edu	37	1	153617664	153617664	+	Silent	SNP	A	A	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:153617664A>G	ENST00000368694.3	+	6	978	c.666A>G	c.(664-666)gcA>gcG	p.A222A	CHTOP_ENST00000368687.1_Silent_p.A197A|CHTOP_ENST00000368690.3_Silent_p.A176A|CHTOP_ENST00000403433.1_Silent_p.A176A|CHTOP_ENST00000495554.1_3'UTR	NM_001206612.1|NM_015607.3	NP_001193541.1|NP_056422.2	Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	protein binding|RNA binding			endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						AATTGGATGCATATATGTCGA	0.562000													33	57					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs149337771	by1000genomes	TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104																											TTGAAACAGCTGGTGTATTAA	0.373000													4	44					0	0	1	0	0
TSPAN13	27075	broad.mit.edu	37	7	16815960	16815960	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr7:16815960G>A	ENST00000262067.4	+	2	621	c.188G>A	c.(187-189)gGt>gAt	p.G63D	TSPAN13_ENST00000466195.1_3'UTR	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	63						integral to plasma membrane|membrane fraction				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		GCTTTAGTGGGTCTGATTGGA	0.428000													40	114					0	0	1	0	0
WDR5B	54554	broad.mit.edu	37	3	122134164	122134164	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr3:122134164T>C	ENST00000330689.4	-	1	718	c.212A>G	c.(211-213)tAt>tGt	p.Y71C		NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	71								p.Y71C(1)		kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		TTTTCCATCATATGCTCCCCA	0.413000													68	242					0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1563210	1563210	+	Splice_Site	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:1563210G>A	ENST00000357210.4	+	13	2070		c.e13+1		MIB2_ENST00000378712.1_Splice_Site|MIB2_ENST00000360522.4_Splice_Site|MIB2_ENST00000355826.5_Splice_Site|MIB2_ENST00000504599.1_Splice_Site|MIB2_ENST00000378708.1_Splice_Site|MIB2_ENST00000518681.1_Splice_Site|MIB2_ENST00000520777.1_Splice_Site|MIB2_ENST00000505820.2_Splice_Site|MIB2_ENST00000378710.3_Splice_Site	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2						Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAACCTGCCCGTGAGTGCTGC	0.692000													7	18					0	0	1	0	0
ZNF672	79894	broad.mit.edu	37	1	249142406	249142406	+	Silent	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:249142406C>T	ENST00000306562.3	+	4	1679	c.933C>T	c.(931-933)ttC>ttT	p.F311F		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			AGAAGCCCTTCGCGTGCCCCG	0.711000													16	21					0	0	1	0	0
STXBP1	6812	broad.mit.edu	37	9	130444818	130444818	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr9:130444818G>A	ENST00000373302.3	+	18	1820	c.1681G>A	c.(1681-1683)Gga>Aga	p.G561R	STXBP1_ENST00000481942.1_3'UTR|STXBP1_ENST00000373299.1_Missense_Mutation_p.G561R	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	561					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CCAGGCCAACGGAAAGTGGGA	0.617000													5	116					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5744415	5744415	+	Silent	SNP	C	C	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:5744415C>G	ENST00000546188.1	-	17	1793	c.1722G>C	c.(1720-1722)cgG>cgC	p.R574R	ANO2_ENST00000327087.8_Silent_p.R573R|ANO2_ENST00000356134.5_Silent_p.R574R			Q9NQ90	ANO2_HUMAN	anoctamin 2	578						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCACTGTCACCCGGACATTGG	0.507000													12	59					0	0	1	0	0
NFIL3	4783	broad.mit.edu	37	9	94171722	94171722	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr9:94171722T>C	ENST00000297689.3	-	2	1689	c.1295A>G	c.(1294-1296)tAt>tGt	p.Y432C		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	432					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						CTGCTTCAAATACAAGTTCTC	0.403000													41	188					0	0	1	0	0
LUM	4060	broad.mit.edu	37	12	91502099	91502099	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:91502099T>A	ENST00000266718.4	-	2	1112	c.658A>T	c.(658-660)Atc>Ttc	p.I220F	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	220					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TCATCAGGGATGTTGCTGATC	0.413000													36	87					0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100983362	100983362	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr9:100983362A>C	ENST00000375066.5	-	6	1218	c.1127T>G	c.(1126-1128)gTg>gGg	p.V376G	TBC1D2_ENST00000375064.1_Missense_Mutation_p.V376G|TBC1D2_ENST00000342112.5_Missense_Mutation_p.V158G|TBC1D2_ENST00000493589.2_Intron	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	376	Interaction with RAC1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAGGGCCTCCACCCGCCGGCC	0.697000													8	13					0	0	1	0	0
ZBTB10	65986	broad.mit.edu	37	8	81411836	81411836	+	Silent	SNP	A	A	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr8:81411836A>G	ENST00000430430.1	+	3	1859	c.1080A>G	c.(1078-1080)aaA>aaG	p.K360K	ZBTB10_ENST00000379091.4_Silent_p.K68K|ZBTB10_ENST00000455036.3_Silent_p.K360K|ZBTB10_ENST00000426744.2_Silent_p.K360K	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	360					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			AGAGAAAGAAAGGTATTCTTT	0.383000													13	95					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49167412	49167412	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr3:49167412C>T	ENST00000418109.1	-	11	1429	c.1265G>A	c.(1264-1266)cGc>cAc	p.R422H	LAMB2_ENST00000305544.4_Missense_Mutation_p.R422H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	422	Laminin EGF-like 3.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGAATCACAGCGACCACCGTC	0.567000													76	84					0	0	1	0	0
DECR1	1666	broad.mit.edu	37	8	91033151	91033151	+	Silent	SNP	T	T	C	rs137904244	byFrequency	TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr8:91033151T>C	ENST00000522161.1	+	7	1088	c.405T>C	c.(403-405)aaT>aaC	p.N135N	DECR1_ENST00000519007.1_3'UTR|DECR1_ENST00000220764.2_Silent_p.N144N			Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	144					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TGATAAACAATGCAGCAGGGA	0.348000													44	62					0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106208309	106208309	+	RNA	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr14:106208309C>T	ENST00000390548.2	-	0	590																											CCTTGCCATTCAGCCAGTCCT	0.592000													129	382					0	0	1	0	0
BHLHE23	128408	broad.mit.edu	37	20	61637728	61637728	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr20:61637728G>T	ENST00000370346.2	-	1	659	c.351C>A	c.(349-351)aaC>aaA	p.N117K		NM_080606.3	NP_542173.1	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix family, member e23	117	Helix-loop-helix motif.				transcription, DNA-dependent	nucleus	DNA binding			NS(1)	1						CCAGCGCGTCGTTTAGGTCGT	0.711000													8	28					0.00307968	0.00319374	1	1	0
NLRP5	126206	broad.mit.edu	37	19	56539103	56539103	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:56539103C>G	ENST00000390649.3	+	7	1504	c.1504C>G	c.(1504-1506)Cac>Gac	p.H502D		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	502	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CACAGGCCTGCACGCCGCTTT	0.637000													11	36					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578254	7578254	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr17:7578254C>A	ENST00000420246.2	-	6	727	c.595G>T	c.(595-597)Gga>Tga	p.G199*	TP53_ENST00000413465.2_Nonsense_Mutation_p.G199*|TP53_ENST00000359597.4_Nonsense_Mutation_p.G199*|TP53_ENST00000455263.2_Nonsense_Mutation_p.G199*|TP53_ENST00000269305.4_Nonsense_Mutation_p.G199*|TP53_ENST00000445888.2_Nonsense_Mutation_p.G199*|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	199	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> 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.G199R(9)|p.0?(8)|p.?(5)|p.G199*(3)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198_G199ins21(1)|p.E198fs*7(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.G199fs*48(1)|p.G199fs*42(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)		CGCAAATTTCCTTCCACTCGG	0.547000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	45					1.99824e-07	2.23802e-07	1	1	0
TRIP12	9320	broad.mit.edu	37	2	230655844	230655844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:230655844C>T	ENST00000283943.5	-	29	4492	c.4314G>A	c.(4312-4314)tgG>tgA	p.W1438*	TRIP12_ENST00000389044.4_Nonsense_Mutation_p.W1486*|TRIP12_ENST00000389045.3_Nonsense_Mutation_p.W1168*	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1438					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TCTTACCGTGCCATAACTCAT	0.373000													46	131					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43428907	43428907	+	RNA	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:43428907C>T	ENST00000406070.2	-	0	1409					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)				cagagtgggtcttgctctttg	0.418000													13	58					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102912287	102912287	+	RNA	SNP	A	A	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr7:102912287A>G	ENST00000312132.4	-	0	2292																											GTGCTTCAATAATGGTCTTGA	0.279000													4	76					0	0	1	0	0
GHITM	27069	broad.mit.edu	37	10	85909964	85909964	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr10:85909964G>A	ENST00000372134.3	+	7	939	c.746G>A	c.(745-747)gGa>gAa	p.G249E		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	249					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						GCACCCCTGGGAGTGGGCCTG	0.507000													15	41					0	0	1	0	0
STAT5B	6777	broad.mit.edu	37	17	40370209	40370209	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr17:40370209G>T	ENST00000293328.3	-	9	1297	c.1129C>A	c.(1129-1131)Cag>Aag	p.Q377K		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	377					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TTGGCCTGCTGCTCACTGATG	0.562000													16	28					3.45872e-05	3.67762e-05	1	1	0
MRGPRX1	259249	broad.mit.edu	37	11	18956130	18956130	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:18956130A>T	ENST00000302797.3	-	1	426	c.202T>A	c.(202-204)Ttg>Atg	p.L68M	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	68					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCTGCGGCCAAGTTGAGGATG	0.537000													6	209					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237791330	237791330	+	Silent	SNP	G	G	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:237791330G>C	ENST00000366574.2	+	41	6707	c.6390G>C	c.(6388-6390)ctG>ctC	p.L2130L	RYR2_ENST00000360064.6_Silent_p.L2128L|RYR2_ENST00000542537.1_Silent_p.L2114L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2130	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGTCCCTGCTGAGTGTGAGAA	0.458000													18	32					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198950676	198950676	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:198950676A>T	ENST00000428675.1	+	2	2833	c.2435A>T	c.(2434-2436)tAt>tTt	p.Y812F	PLCL1_ENST00000437704.2_Missense_Mutation_p.Y714F	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	812	C2.				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)	ATAGGGCAATATACGATACCA	0.438000													43	91					0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44272161	44272161	+	Silent	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr18:44272161C>T	ENST00000315087.7	-	3	942	c.282G>A	c.(280-282)gcG>gcA	p.A94A	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Silent_p.A130A|ST8SIA5_ENST00000536490.1_Silent_p.A63A	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	94					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						AGATGTTCATCGCCCATTTGC	0.517000													14	61					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10600002	10600002	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr19:10600002T>C	ENST00000171111.5	-	5	2121	c.1574A>G	c.(1573-1575)tAt>tGt	p.Y525C	KEAP1_ENST00000393623.2_Missense_Mutation_p.Y525C	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CTGACCATCATAGCCCCCAGC	0.597000													11	36					0	0	1	0	0
CTSL	1514	broad.mit.edu	37	9	90343215	90343215	+	Silent	SNP	C	C	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr9:90343215C>A	ENST00000343150.5	+	4	1190	c.300C>A	c.(298-300)ccC>ccA	p.P100P	CTSL_ENST00000342020.5_Silent_p.P100P|CTSL_ENST00000495822.1_Intron|CTSL_ENST00000340342.6_Silent_p.P100P					cathepsin L																		ACCGTAAGCCCAGGAAGGGGA	0.443000													19	108					1.00905e-13	1.1938e-13	1	1	0
NRXN1	9378	broad.mit.edu	37	2	51255184	51255184	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:51255184G>T	ENST00000404971.1	-	2	1567	c.228C>A	c.(226-228)tgC>tgA	p.C76*	NRXN1_ENST00000406316.2_Nonsense_Mutation_p.C76*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.C76*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.C76*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.C76*|NRXN1_ENST00000405581.1_Nonsense_Mutation_p.C76*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.C76*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	76	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCAGGAAGTCGCAGAAGCCCT	0.652000													14	22					1.3612e-06	1.49465e-06	1	1	0
FAM90A1	55138	broad.mit.edu	37	12	8374480	8374480	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:8374480C>T	ENST00000538603.1	-	7	1891	c.1333G>A	c.(1333-1335)Gtc>Atc	p.V445I	FAM90A1_ENST00000307435.6_Missense_Mutation_p.V445I	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	445							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TCATAGAGGACGCTTGGTGGG	0.602000													7	111					0	0	1	0	0
WDR63	126820	broad.mit.edu	37	1	85550274	85550274	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:85550274C>T	ENST00000294664.6	+	6	616	c.436C>T	c.(436-438)Cct>Tct	p.P146S	WDR63_ENST00000326813.8_Missense_Mutation_p.P146S|WDR63_ENST00000370596.1_Missense_Mutation_p.P146S	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	146										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AGAACATATTCCTGAAGATGT	0.343000													32	74					0	0	1	0	0
HBD	3045	broad.mit.edu	37	11	5254302	5254302	+	Silent	SNP	C	C	A	rs143576561	by1000genomes	TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:5254302C>A	ENST00000380299.3	-	3	550	c.336G>T	c.(334-336)gtG>gtT	p.V112V	HBD_ENST00000292901.3_Intron	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	112					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGCACACACACCAGCACAT	0.517000													23	72					6.44725e-10	7.41876e-10	1	1	0
KDSR	2531	broad.mit.edu	37	18	61002491	61002491	+	Splice_Site	SNP	T	T	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr18:61002491T>G	ENST00000406396.3	-	9	1269	c.879_splice	c.e9+1	p.Q293_splice	KDSR_ENST00000589592.1_5'UTR|KDSR_ENST00000326575.5_Splice_Site_p.Q229_splice	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	293					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						AGAGCTTACCTGCTGGAGCCC	0.488000													14	31					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41514551	41514551	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr21:41514551T>C	ENST00000400454.1	-	18	3817	c.3340A>G	c.(3340-3342)Aag>Gag	p.K1114E		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1114	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AAGGCTTCCTTGGAAAGTGTG	0.458000													43	90					0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45269865	45269865	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:45269865T>A	ENST00000372201.4	+	11	1528	c.1289T>A	c.(1288-1290)gTa>gAa	p.V430E	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	430						membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GTGGCCACAGTAGTGGAGTCA	0.557000													44	79					0	0	1	0	0
GPR21	2844	broad.mit.edu	37	9	125797596	125797596	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr9:125797596G>T	ENST00000373642.1	+	1	791	c.751G>T	c.(751-753)Gcc>Tcc	p.A251S	RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	251						integral to plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						TAAGCGCTATGCCATGGTCCT	0.512000													88	129					1.37074e-43	1.71854e-43	1	1	0
ABCC4	10257	broad.mit.edu	37	13	95727694	95727694	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr13:95727694A>G	ENST00000376887.4	-	22	2912	c.2798T>C	c.(2797-2799)tTa>tCa	p.L933S	ABCC4_ENST00000412704.1_Missense_Mutation_p.L886S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	933	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	ACCTGAATGTAAATCCTGGTG	0.483000													60	113					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102912302	102912302	+	RNA	SNP	A	A	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr7:102912302A>G	ENST00000312132.4	-	0	2277																											TCTTGAAGTAAGAATAATAAA	0.269000													6	72					0	0	1	0	0
LEMD3	23592	broad.mit.edu	37	12	65633925	65633925	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:65633925G>A	ENST00000308330.2	+	8	2059	c.2033G>A	c.(2032-2034)cGa>cAa	p.R678Q		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	678					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GATGTTTTACGAAGTCATAAT	0.328000													28	76					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81635108	81635108	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr7:81635108A>T	ENST00000356860.3	-	17	1826	c.1488T>A	c.(1486-1488)gaT>gaA	p.D496E	CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D496E	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	496	Cache.					voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GTCTTTTAATATCTTCCAAAG	0.343000													34	85					0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128910376	128910376	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:128910376C>T	ENST00000375990.3	+	19	2366	c.1963C>T	c.(1963-1965)Caa>Taa	p.Q655*	UGGT1_ENST00000259253.6_Nonsense_Mutation_p.Q679*			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	679					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCCCCATGATCAAGATGTGGT	0.388000													37	130					0	0	1	0	0
NRROS	375387	broad.mit.edu	37	3	196387701	196387701	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr3:196387701G>A	ENST00000328557.4	+	3	1390	c.1187G>A	c.(1186-1188)gGg>gAg	p.G396E		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		CTGGCTCCGGGGCTGGCCAGC	0.657000													28	111					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284000													5	205					0	0	1	0	0
CXCR4	7852	broad.mit.edu	37	2	136873272	136873272	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:136873272A>T	ENST00000409817.1	-	1	541	c.238T>A	c.(238-240)Tac>Aac	p.Y80N	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000241393.3_Missense_Mutation_p.Y76N	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	76					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	TGCAGCCTGTACTTGTCCGTC	0.507000													54	40					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158615117	158615117	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:158615117C>A	ENST00000368148.3	-	29	4235	c.4055G>T	c.(4054-4056)aGt>aTt	p.S1352I	SPTA1_ENST00000368147.3_Missense_Mutation_p.S1352I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1352					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)					AAGTTCTGCACTGAAGTCCTC	0.507000													19	69					3.32936e-07	3.67982e-07	1	1	0
CLCC1	23155	broad.mit.edu	37	1	109477344	109477345	+	Frame_Shift_Ins	INS	-	-	T	rs138000506		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr1:109477344_109477345insT	ENST00000369971.2	-	11	1732_1733	c.1603_1604insA	c.(1603-1605)aggfs	p.R535fs	AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000415331.1_Frame_Shift_Ins_p.R485fs|CLCC1_ENST00000369969.2_Frame_Shift_Ins_p.R414fs|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000348264.2_Frame_Shift_Ins_p.R350fs|CLCC1_ENST00000369970.3_Frame_Shift_Ins_p.R485fs|CLCC1_ENST00000356970.2_Frame_Shift_Ins_p.R535fs|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000302500.4_Frame_Shift_Ins_p.R414fs|CLCC1_ENST00000369968.2_Frame_Shift_Ins_p.R350fs	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	535						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		AGCCACACCTCTTGCGGGGCTG	0.589													35	107	---	---	---	---					
RP11-13J8.1	0	broad.mit.edu	37	2	201967218	201967218	+	RNA	DEL	G	G	-			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr2:201967218delG	ENST00000448256.1	+	0	628																											aaaaaaaaaagaaTTTGTTCT	0.463													2	4	---	---	---	---					
PRDM8	56978	broad.mit.edu	37	4	81124151	81124151	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr4:81124151delC	ENST00000339711.4	+	10	2766	c.1535delC	c.(1534-1536)tcfs	p.S512fs	PRDM8_ENST00000504452.1_Frame_Shift_Del_p.S512fs|PRDM8_ENST00000415738.2_Frame_Shift_Del_p.S512fs	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						TCGCAGCTGTCCCCGCTGGTG	0.761													2	4	---	---	---	---					
NRG2	9542	broad.mit.edu	37	5	139422531	139422532	+	In_Frame_Ins	INS	-	-	GCTGCTGCT			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr5:139422531_139422532insGCTGCTGCT	ENST00000541337.1	-	1	352_353	c.123_124insAGCAGCAGC	c.(121-126)agagag>agAGCAGCAGCagag	p.41_42RE>RAAAE	NRG2_ENST00000394770.1_In_Frame_Ins_p.41_42RE>RAAAE|NRG2_ENST00000361474.1_In_Frame_Ins_p.41_42RE>RAAAE|NRG2_ENST00000358522.3_In_Frame_Ins_p.41_42RE>RAAAE|NRG2_ENST00000545385.1_In_Frame_Ins_p.41_42RE>RAAAE|NRG2_ENST00000289409.4_In_Frame_Ins_p.41_42RE>RAAAE|NRG2_ENST00000289422.7_In_Frame_Ins_p.41_42RE>RAAAE	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	41	Poly-Ser.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	p.S41delS(2)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ctgccgctctcgctgctgctgc	0.703													3	3	---	---	---	---					
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Splice_Site	DEL	T	T	-			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr6:52883129delT	ENST00000356971.3	-	8	1151	c.663_splice	c.e8+1	p.K221_splice	ICK_ENST00000350082.5_Splice_Site_p.K221_splice	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	221	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TATCATTACCTTTTTTGGTGT	0.502													8	273	---	---	---	---					
HSF1	3297	broad.mit.edu	37	8	145535256	145535257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr8:145535256_145535257insG	ENST00000528838.1	+	7	852_853	c.692_693insG	c.(691-693)cgafs	p.R231fs	HSF1_ENST00000400780.4_Frame_Shift_Ins_p.R166fs	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	231	Regulatory domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CAGTTCTCCCTGGAGCACGTCC	0.683													12	182	---	---	---	---					
RP13-60M5.2	0	broad.mit.edu	37	9	91257674	91257676	+	RNA	DEL	TCC	TCC	-	rs10561116		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr9:91257674_91257676delTCC	ENST00000418343.2	-	0	916																											cctctccttgtcctcctcctctt	0.483													2	4	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102737945	102737945	+	RNA	DEL	A	A	-	rs28381681		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr11:102737945delA	ENST00000532855.1	-	0	1007							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	GTTTTCTGACAAAAAAAATTT	0.338													3	4	---	---	---	---					
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr12:132281734_132281736delAGA	ENST00000261674.4	+	16	2687_2689	c.2546_2548delAGA	c.(2545-2550)gag>g	p.EK849del	SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	849	Arg/Ser-rich (RS domain).				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606													7	152	---	---	---	---					
AJUBA	84962	broad.mit.edu	37	14	23451243	23451246	+	Frame_Shift_Del	DEL	CCGC	CCGC	-			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr14:23451243_23451246delCCGC	ENST00000262713.2	-	1	605_608	c.230_233delGCGG	c.(229-234)ccfs	p.RG77fs	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Frame_Shift_Del_p.RG77fs	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	77	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CTCAAAGGAGCCGCGCTGATTTCG	0.686													9	8	---	---	---	---					
SMURF2P1	0	broad.mit.edu	37	17	28935711	28935713	+	RNA	DEL	GTA	GTA	-	rs61463558		TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr17:28935711_28935713delGTA	ENST00000578265.1	+	0	233																											atatatacatgtagtatatatgt	0.296													2	4	---	---	---	---					
MAP3K14	9020	broad.mit.edu	37	17	43368002	43368003	+	RNA	DEL	CT	CT	-			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr17:43368002_43368003delCT	ENST00000344686.2	-	0	217_218							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GTAGACGGAGCTCTGTTTCTTC	0.589													23	66	---	---	---	---					
DSEL	92126	broad.mit.edu	37	18	65179227	65179228	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr18:65179227_65179228insA	ENST00000310045.7	-	2	4121_4122	c.2648_2649insT	c.(2647-2649)taafs	p.*883fs	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	873						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CACTACTGTTGAAAAAAAGTTG	0.401													36	179	---	---	---	---					
FRG1BP	284802	broad.mit.edu	37	20	29625899	29625900	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr20:29625899_29625900insAT	ENST00000278882.3	+	5	523_524	c.143_144insAT	c.(142-144)atafs	p.I48fs	FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTATGGAAAATATCTTGGTA	0.342													8	180	---	---	---	---					
ARFGEF2	10564	broad.mit.edu	37	20	47614970	47614971	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UF-A7JF-01A-11D-A34J-08	TCGA-UF-A7JF-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dd6805-a62a-454d-b360-27b11b9f8911	75721301-5b80-4876-a35e-bb752d906c89	g.chr20:47614970_47614971insT	ENST00000371917.4	+	25	3360_3361	c.3360_3361insT	c.(3358-3363)tcactafs	p.L1121fs	ARFGEF2_ENST00000493140.1_3'UTR	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1121					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGGAGATATCATACTACAACAT	0.446													66	116	---	---	---	---