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
IGKV1D-17	28900	broad.mit.edu	37	2	90122054	90122054	+	RNA	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr2:90122054C>A	ENST00000483379.1	+	0	453																											GGATCTGGGACAGAATTCACT	0.483000													31	205					1.03484e-13	1.38858e-13	0.005524	1	0
PASD1	139135	broad.mit.edu	37	X	150828209	150828209	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chrX:150828209G>T	ENST00000370357.4	+	10	987	c.742G>T	c.(742-744)Gag>Tag	p.E248*		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	248						nucleus	signal transducer activity	p.E248*(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAGAGGTTGAGCAGTATGG	0.388000													18	48					2.94398e-08	3.5194e-08	0.007413	1	0
SRGAP3	9901	broad.mit.edu	37	3	9032298	9032298	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr3:9032298C>G	ENST00000383836.3	-	21	3211	c.2784G>C	c.(2782-2784)aaG>aaC	p.K928N	SRGAP3_ENST00000360413.3_Missense_Mutation_p.K904N	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	928					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AGAGCGCCTTCTTGTCAGGGT	0.657000			T	RAF1	pilocytic astrocytoma								8	9					0	0	0.003080	0	0
FAT1	2195	broad.mit.edu	37	4	187517920	187517920	+	Silent	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr4:187517920C>A	ENST00000441802.2	-	25	12983	c.12774G>T	c.(12772-12774)ccG>ccT	p.P4258P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4258					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.P4258P(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGGAATACTCGGGGTGTAGG	0.468000										HNSCC(5;0.00058)			15	20					7.93312e-07	9.11096e-07	0.002450	1	0
GLCCI1	113263	broad.mit.edu	37	7	8125955	8125955	+	Silent	SNP	C	C	G			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr7:8125955C>G	ENST00000223145.5	+	8	1988	c.1431C>G	c.(1429-1431)ctC>ctG	p.L477L		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	477										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		ACCTTATGCTCAAGAACTCCC	0.488000													109	179					0	0	0.014410	0	0
SLC9A6	10479	broad.mit.edu	37	X	135104823	135104823	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chrX:135104823G>T	ENST00000370695.4	+	11	1464	c.1429G>T	c.(1429-1431)Gga>Tga	p.G477*	SLC9A6_ENST00000370698.3_Nonsense_Mutation_p.G445*|SLC9A6_ENST00000370701.1_Nonsense_Mutation_p.G425*	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	445					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					AAGTAAGATTGGATCAAATTT	0.378000													13	13					6.31663e-08	7.44965e-08	0.003163	1	0
ZNF225	7768	broad.mit.edu	37	19	44636270	44636270	+	Silent	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr19:44636270C>A	ENST00000262894.6	+	5	1783	c.1503C>A	c.(1501-1503)acC>acA	p.T501T	ZNF225_ENST00000590612.1_Silent_p.T501T|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				AACTTTATACCCATCGTAGAG	0.378000													23	33					7.41877e-09	8.95017e-09	0.012319	1	0
CAMK1G	57172	broad.mit.edu	37	1	209776559	209776559	+	Splice_Site	SNP	G	G	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr1:209776559G>T	ENST00000009105.1	+	4	467	c.221_splice	c.e4-1	p.K74_splice	CAMK1G_ENST00000361322.2_Splice_Site_p.K74_splice			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	74	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		TTTTTCCCAGGATCAAGCATG	0.438000													11	40					0.00136819	0.00146274	0.013537	1	0
C10orf68	79741	broad.mit.edu	37	10	33103369	33103369	+	Nonsense_Mutation	SNP	A	A	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr10:33103369A>T	ENST00000375028.3	+	10	980	c.910A>T	c.(910-912)Aag>Tag	p.K304*	C10orf68_ENST00000375030.2_Intron|C10orf68_ENST00000375025.4_Nonsense_Mutation_p.K364*			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	328										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GACACGATCAAAGAGTCTCCC	0.343000													25	85					0	0	0.006320	0	0
DNMT3A	1788	broad.mit.edu	37	2	25463511	25463511	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr2:25463511T>C	ENST00000264709.3	-	18	2508	c.2171A>G	c.(2170-2172)tAc>tGc	p.Y724C	DNMT3A_ENST00000402667.1_Missense_Mutation_p.Y501C|DNMT3A_ENST00000321117.5_Missense_Mutation_p.Y724C|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.Y535C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	724					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.Y724C(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTACCTACCGTAGAGGCCCTT	0.572000			"""Mis, F, N, S"""		AML								23	78					0	0	0.003330	0	0
BFAR	51283	broad.mit.edu	37	16	14738323	14738323	+	Silent	SNP	C	C	T	rs140014548		TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr16:14738323C>T	ENST00000261658.2	+	2	397	c.120C>T	c.(118-120)atC>atT	p.I40I	BFAR_ENST00000426842.2_5'UTR|BFAR_ENST00000563971.1_Silent_p.I40I	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	40					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding	p.I40I(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						GCTACGACATCCTGGTTAACC	0.483000													26	161					0	0	0.004878	0	0
CCDC127	133957	broad.mit.edu	37	5	206038	206038	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr5:206038C>T	ENST00000296824.3	-	3	289	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	53										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			CTCTCTTTTTCTACTTCTTTC	0.443000													21	41					0	0	0.002780	0	0
PXDNL	137902	broad.mit.edu	37	8	52321725	52321725	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr8:52321725G>C	ENST00000356297.4	-	17	2559	c.2459C>G	c.(2458-2460)gCg>gGg	p.A820G	PXDNL_ENST00000543296.1_Missense_Mutation_p.A820G	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	820					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGTGCTCAGCGCAGGCACTGT	0.682000													5	6					0	0	0.000602	0	0
CLDN10	9071	broad.mit.edu	37	13	96086182	96086182	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr13:96086182C>T	ENST00000376873.3	+	1	325	c.95C>T	c.(94-96)aCg>aTg	p.T32M		NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	claudin 10	34					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			AAAGTGACCACGCGAGCCTCC	0.572000													18	32					0	0	0.007413	0	0
KANK1	23189	broad.mit.edu	37	9	711446	711446	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr9:711446C>T	ENST00000382303.1	+	7	1332	c.680C>T	c.(679-681)cCa>cTa	p.P227L	KANK1_ENST00000382293.3_Missense_Mutation_p.P69L|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.P227L	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	227					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AGCTATGCCCCAGCTGCTCCC	0.577000													6	40					0	0	0.001168	0	0
PIR	8544	broad.mit.edu	37	X	15474024	15474024	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chrX:15474024T>A	ENST00000380421.3	-	5	887	c.427A>T	c.(427-429)Agt>Tgt	p.S143C	PIR_ENST00000476381.1_5'UTR|PIR_ENST00000380420.5_Missense_Mutation_p.S143C	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	143					transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					CCATCCTTACTGGGTTTAGGG	0.478000													89	150					0	0	0.014410	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963490	73963490	+	Nonsense_Mutation	SNP	G	G	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chrX:73963490G>C	ENST00000373468.1	-	3	1553	c.902C>G	c.(901-903)tCa>tGa	p.S301*	KIAA2022_ENST00000055682.5_Nonsense_Mutation_p.S301*			Q5QGS0	K2022_HUMAN	KIAA2022	301					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCCTAGTGTTGATTCATCATC	0.403000													12	78					0	0	0.010729	0	0
XIST	7503	broad.mit.edu	37	X	73065920	73065920	+	RNA	SNP	G	G	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chrX:73065920G>A	ENST00000429829.1	-	0	6668					NR_001564.2																						ACTCCCTGCCGGAAGGGAAAG	0.512000													39	95					0	0	0.006230	0	0
TRIM6	117854	broad.mit.edu	37	11	5624859	5624859	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr11:5624859T>C	ENST00000380097.3	+	2	643	c.401T>C	c.(400-402)cTc>cCc	p.L134P	HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000445329.1_5'UTR|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000515022.1_Intron|TRIM6_ENST00000506134.1_Intron|TRIM6_ENST00000507320.1_5'UTR|TRIM6_ENST00000278302.5_Missense_Mutation_p.L106P|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.L134P|TRIM6_ENST00000380107.1_Intron	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1			tripartite motif containing 6											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		AAACTGCAGCTCTTCTGTCAG	0.562000													4	79					0	0	0.009096	0	0
FHOD3	80206	broad.mit.edu	37	18	34340586	34340586	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr18:34340586G>A	ENST00000257209.4	+	23	4038	c.3916G>A	c.(3916-3918)Ggc>Agc	p.G1306S	FHOD3_ENST00000445677.1_Missense_Mutation_p.G1268S|FHOD3_ENST00000590592.1_Missense_Mutation_p.G1489S|FHOD3_ENST00000592128.1_Missense_Mutation_p.G285S|FHOD3_ENST00000591635.1_Missense_Mutation_p.G502S|FHOD3_ENST00000359247.4_Missense_Mutation_p.G1289S	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1289					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CAAGTTCTCCGGCAGTTCTCC	0.572000													32	58					0	0	0.003755	0	0
TBXAS1	6916	broad.mit.edu	37	7	139655362	139655362	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr7:139655362G>A	ENST00000263552.6	+	11	1185	c.647G>A	c.(646-648)cGt>cAt	p.R216H	TBXAS1_ENST00000458722.1_Missense_Mutation_p.R261H|TBXAS1_ENST00000448866.1_Missense_Mutation_p.R215H|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000411653.1_Missense_Mutation_p.R215H|TBXAS1_ENST00000425687.1_Missense_Mutation_p.R148H|TBXAS1_ENST00000414508.2_Missense_Mutation_p.R216H|TBXAS1_ENST00000436047.2_Missense_Mutation_p.R216H|TBXAS1_ENST00000336425.5_Missense_Mutation_p.R215H|TBXAS1_ENST00000416849.2_Missense_Mutation_p.R262H	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	215					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CACTGCAAGCGTTTCTTCGAA	0.577000													40	47					0	0	0.006999	0	0
LVRN	206338	broad.mit.edu	37	5	115336183	115336183	+	Silent	SNP	C	C	G			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr5:115336183C>G	ENST00000357872.4	+	8	1693	c.1569C>G	c.(1567-1569)gtC>gtG	p.V523V	AQPEP_ENST00000395528.2_Silent_p.V40V	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		523					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										ATTTATTTGTCAGTGCACTCA	0.363000													20	57					0	0	0.012319	0	0
PTPN4	5775	broad.mit.edu	37	2	120690065	120690065	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr2:120690065C>G	ENST00000263708.2	+	14	1907	c.1136C>G	c.(1135-1137)tCt>tGt	p.S379C	PTPN4_ENST00000544261.1_Missense_Mutation_p.S12C	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	379						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)	AATTCAATATCTGATGACAGG	0.368000													4	27					0	0	0.009096	0	0
ADCY8	114	broad.mit.edu	37	8	131861866	131861866	+	Silent	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr8:131861866C>A	ENST00000286355.5	-	10	4486	c.2394G>T	c.(2392-2394)ctG>ctT	p.L798L	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	798					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGATGGCACCCAGGAAATTAA	0.458000										HNSCC(32;0.087)			4	32					4.096e-09	5.0575e-09	0.001168	1	0
FAM65C	140876	broad.mit.edu	37	20	49224947	49224947	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr20:49224947A>T	ENST00000327979.2	-	11	1334	c.923T>A	c.(922-924)cTg>cAg	p.L308Q	FAM65C_ENST00000535356.1_Missense_Mutation_p.L312Q|FAM65C_ENST00000045083.2_Missense_Mutation_p.L308Q			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	308										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCCAGCTGCAGCTTGATGGT	0.652000													27	45					0	0	0.007291	0	0
SNTG1	54212	broad.mit.edu	37	8	51705310	51705310	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr8:51705310C>A	ENST00000522124.1	+	19	2136	c.1475C>A	c.(1474-1476)cCt>cAt	p.P492H	SNTG1_ENST00000276467.5_Missense_Mutation_p.P455H|SNTG1_ENST00000518864.1_Missense_Mutation_p.P492H|SNTG1_ENST00000517473.1_Missense_Mutation_p.P455H	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	492					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TGTTTGGACCCTCTATTTTTA	0.413000													7	97					0.00198382	0.00211232	0.001984	1	0
SAMD9	54809	broad.mit.edu	37	7	92734062	92734062	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr7:92734062C>A	ENST00000379958.2	-	3	1618	c.1349G>T	c.(1348-1350)gGa>gTa	p.G450V		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	450						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTGACCACTCCATTGATGTT	0.373000													9	16					9.70103e-10	1.23853e-09	0.008291	1	0
ART3	419	broad.mit.edu	37	4	77003393	77003393	+	Nonsense_Mutation	SNP	T	T	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr4:77003393T>A	ENST00000355810.4	+	3	605	c.486T>A	c.(484-486)taT>taA	p.Y162*	ART3_ENST00000349321.3_Nonsense_Mutation_p.Y162*|ART3_ENST00000341029.5_Nonsense_Mutation_p.Y162*|ART3_ENST00000513494.1_3'UTR	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	162					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTGTGGTATATAGAACAAGCC	0.453000													16	17					0	0	0.004007	0	0
ABCB7	22	broad.mit.edu	37	X	74293742	74293742	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chrX:74293742C>T	ENST00000253577.3	-	7	932	c.908G>A	c.(907-909)gGt>gAt	p.G303D	ABCB7_ENST00000373394.3_Missense_Mutation_p.G302D|ABCB7_ENST00000339447.4_Missense_Mutation_p.G262D	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	302	ABC transmembrane type-1.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TGTGTATGTACCAAGTGTTCC	0.378000													11	29					0	0	0.008291	0	0
MS4A14	84689	broad.mit.edu	37	11	60170396	60170396	+	Silent	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr11:60170396C>T	ENST00000300187.6	+	4	607	c.330C>T	c.(328-330)gtC>gtT	p.V110V	MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000395005.2_Silent_p.V93V|MS4A14_ENST00000531787.1_5'UTR|MS4A14_ENST00000531783.1_Silent_p.V110V	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	110						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GTCAAGGTGTCACGGGCATGA	0.363000													19	77					0	0	0.008871	0	0
TMEM168	64418	broad.mit.edu	37	7	112424043	112424043	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr7:112424043G>A	ENST00000312814.5	-	2	1398	c.838C>T	c.(838-840)Ctt>Ttt	p.L280F	TMEM168_ENST00000454074.1_Missense_Mutation_p.L280F	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	280						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						AATGCGGAAAGAATAAAAAAT	0.343000													10	145					0	0	0.013537	0	0
NPY5R	4889	broad.mit.edu	37	4	164271924	164271924	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr4:164271924G>T	ENST00000515560.1	+	4	2021	c.499G>T	c.(499-501)Ggt>Tgt	p.G167C	NPY5R_ENST00000506953.1_Missense_Mutation_p.G167C|NPY5R_ENST00000338566.3_Missense_Mutation_p.G167C			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	167					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				CTGGACACTAGGTTTTGCCAT	0.393000													36	104					6.19805e-25	8.95652e-25	0.005524	1	0
KANK1	23189	broad.mit.edu	37	9	711087	711087	+	Silent	SNP	C	C	G			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr9:711087C>G	ENST00000382303.1	+	7	973	c.321C>G	c.(319-321)ctC>ctG	p.L107L	KANK1_ENST00000382293.3_5'UTR|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.L107L	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	107					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CCAACTTCCTCATAGCCAGAA	0.502000													5	75					0	0	0.001168	0	0
ADAM23	8745	broad.mit.edu	37	2	207459528	207459528	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr2:207459528C>T	ENST00000264377.3	+	23	2474	c.2146C>T	c.(2146-2148)Ccg>Tcg	p.P716S	ADAM23_ENST00000374416.1_Missense_Mutation_p.P716S|ADAM23_ENST00000374415.3_Missense_Mutation_p.P716S	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	716					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GCCATGTGGCCCGTCTATGAT	0.443000													20	69					0	0	0.010504	0	0
OSR2	116039	broad.mit.edu	37	8	99961588	99961588	+	Silent	SNP	G	G	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr8:99961588G>C	ENST00000297565.4	+	2	904	c.408G>C	c.(406-408)ctG>ctC	p.L136L	OSR2_ENST00000522510.1_Silent_p.L136L|OSR2_ENST00000435298.2_Silent_p.L136L|OSR2_ENST00000457907.2_Silent_p.L257L|OSR2_ENST00000523368.1_Silent_p.L136L	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	136					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			TGGGAGACCTGAGCAAGCTGA	0.592000													69	191					0	0	0.014410	0	0
FAM83H	286077	broad.mit.edu	37	8	144808209	144808209	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr8:144808209T>A	ENST00000388913.3	-	5	3547	c.3422A>T	c.(3421-3423)aAg>aTg	p.K1141M		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1141					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTCCTCTTTCTTGCAGAAGAC	0.677000													16	30					0	0	0.004990	0	0
VEGFB	7423	broad.mit.edu	37	11	64005048	64005048	+	Missense_Mutation	SNP	A	A	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr11:64005048A>C	ENST00000426086.2	+	6	480	c.466A>C	c.(466-468)Acc>Ccc	p.T156P	VEGFB_ENST00000309422.2_Silent_p.G189G			P49765	VEGFB_HUMAN	vascular endothelial growth factor B	149					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						TGACCCCCGGACCTGCCGCTG	0.711000													7	9					0	0	0.004482	0	0
MYOC	4653	broad.mit.edu	37	1	171605716	171605716	+	Silent	SNP	G	G	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr1:171605716G>A	ENST00000037502.5	-	3	923	c.864C>T	c.(862-864)atC>atT	p.I288I		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	288	Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAACTGTGTCGATTCTCCACG	0.532000													14	77					0	0	0.004007	0	0
LRPPRC	10128	broad.mit.edu	37	2	44203337	44203337	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr2:44203337G>A	ENST00000260665.7	-	6	739	c.682C>T	c.(682-684)Ctc>Ttc	p.L228F	LRPPRC_ENST00000409946.1_Missense_Mutation_p.L228F|LRPPRC_ENST00000409659.1_Missense_Mutation_p.L228F	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	228					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTAACTGGGAGATCCTTAGTT	0.393000													6	28					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179574477	179574477	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr2:179574477T>C	ENST00000589042.1	-	99	28793	c.28569A>G	c.(28567-28569)atA>atG	p.I9523M	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I9206M|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I8279M|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9206							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGCAACAGTTATAGGTTGGG	0.403000													47	61					0	0	0.014410	0	0
USP31	57478	broad.mit.edu	37	16	23085050	23085050	+	Silent	SNP	C	C	A	rs139668647		TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr16:23085050C>A	ENST00000219689.7	-	14	2327	c.2328G>T	c.(2326-2328)tcG>tcT	p.S776S		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	776	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CACCTGCCACCGAGCTGTTGG	0.522000													13	39					1.05317e-09	1.31897e-09	0.002450	1	0
CSHL1	1444	broad.mit.edu	37	17	61987426	61987426	+	Silent	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr17:61987426C>T	ENST00000450719.3	-	3	522	c.285G>A	c.(283-285)gcG>gcA	p.A95A	CSHL1_ENST00000561003.1_Silent_p.A106A|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000558099.1_5'UTR			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						CTTGGGTCAGCGCCTGACTGC	0.557000													32	51					0	0	0.012213	0	0
ZNF142	7701	broad.mit.edu	37	2	219521075	219521075	+	Silent	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr2:219521075C>T	ENST00000411696.2	-	3	857	c.78G>A	c.(76-78)ctG>ctA	p.L26L	ZNF142_ENST00000449707.1_Silent_p.L26L			P52746	ZN142_HUMAN	zinc finger protein 142	26					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCGGGGGGATCAGCAATAGCT	0.607000													7	43					0	0	0.003080	0	0
TLR8	51311	broad.mit.edu	37	X	12938975	12938975	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chrX:12938975G>T	ENST00000218032.6	+	2	1903	c.1816G>T	c.(1816-1818)Gaa>Taa	p.E606*	TLR8_ENST00000311912.5_Nonsense_Mutation_p.E624*	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	606					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	p.E624K(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GTATAACCTGGAAAGCAAGTC	0.333000													12	47					6.40141e-05	7.04423e-05	0.010729	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274424	39274424	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr17:39274424G>C	ENST00000391413.2	-	1	182	c.144C>G	c.(142-144)agC>agG	p.S48R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	48	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.S48R(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCCTGCAGCAGCTGGACACAC	0.672000													5	67					0	0	0.001168	0	0
SRRM2	23524	broad.mit.edu	37	16	2809140	2809140	+	Splice_Site	SNP	G	G	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr16:2809140G>T	ENST00000301740.8	+	7	1205		c.e7-1			NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2							Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TTTTCCAACAGGTCAGAATCT	0.428000													62	45					1.48005e-37	2.1746e-37	0.014410	1	0
AFF2	2334	broad.mit.edu	37	X	148068981	148068981	+	Silent	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chrX:148068981C>A	ENST00000370460.2	+	20	4187	c.3708C>A	c.(3706-3708)ccC>ccA	p.P1236P	AFF2_ENST00000370457.5_Silent_p.P1201P|AFF2_ENST00000286437.5_Silent_p.P877P|AFF2_ENST00000342251.3_Silent_p.P1203P	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1236					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TCACCATTCCCCAGCGCATTC	0.517000													48	84					9.58827e-17	1.32027e-16	0.014410	1	0
OR2AK2	391191	broad.mit.edu	37	1	248129274	248129274	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr1:248129274T>A	ENST00000366480.3	+	1	740	c.641T>A	c.(640-642)gTc>gAc	p.V214D	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GAGTATACAGTCCTCCTGAGT	0.448000													22	17					0	0	0.010504	0	0
SPTBN4	57731	broad.mit.edu	37	19	41040158	41040158	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr19:41040158G>C	ENST00000352632.3	+	20	4353	c.4267G>C	c.(4267-4269)Gac>Cac	p.D1423H	SPTBN4_ENST00000392025.1_Missense_Mutation_p.D166H|SPTBN4_ENST00000392023.1_Missense_Mutation_p.D99H|SPTBN4_ENST00000598249.1_Missense_Mutation_p.D1423H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.D1423H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.D1423H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1423					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCTGAGCTGGACAAGAAGCT	0.602000													4	32					0	0	0.009096	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053763	95053763	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr14:95053763C>T	ENST00000329597.7	+	3	274	c.64C>T	c.(64-66)Cac>Tac	p.H22Y	SERPINA5_ENST00000554276.1_Missense_Mutation_p.H22Y|SERPINA5_ENST00000554866.1_Missense_Mutation_p.H22Y|SERPINA5_ENST00000553780.1_Missense_Mutation_p.H22Y	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	22					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CCTTCACCGCCACCACCCCCG	0.587000													36	41					0	0	0.003755	0	0
SNTG1	54212	broad.mit.edu	37	8	51314806	51314806	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr8:51314806C>A	ENST00000522124.1	+	4	725	c.64C>A	c.(64-66)Cag>Aag	p.Q22K	SNTG1_ENST00000276467.5_Missense_Mutation_p.Q22K|SNTG1_ENST00000518864.1_Missense_Mutation_p.Q22K|SNTG1_ENST00000517473.1_Missense_Mutation_p.Q22K	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	22					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GGATGGTAACCAGGAGCCTTT	0.383000													17	42					4.7546e-09	5.81961e-09	0.004007	1	0
MUC17	140453	broad.mit.edu	37	7	100678076	100678076	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr7:100678076G>A	ENST00000306151.4	+	3	3443	c.3379G>A	c.(3379-3381)Gac>Aac	p.D1127N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1127	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTGTCGACACCAGCAT	0.517000													20	740					0	0	0.010504	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62885809	62885809	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chrX:62885809C>A	ENST00000253401.6	-	7	1813	c.1013G>T	c.(1012-1014)cGg>cTg	p.R338L	ARHGEF9_ENST00000433323.2_Intron|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.R317L|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.R336L|ARHGEF9_ENST00000495564.1_Intron|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.R236L|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.R285L	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	338	PH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						GAAGAAGACCCGCTGCTGGTT	0.597000													21	24					3.51602e-12	4.60056e-12	0.008871	1	0
RYR2	6262	broad.mit.edu	37	1	237666691	237666691	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr1:237666691A>T	ENST00000366574.2	+	22	2816	c.2499A>T	c.(2497-2499)aaA>aaT	p.K833N	RYR2_ENST00000542537.1_Missense_Mutation_p.K817N|RYR2_ENST00000360064.6_Missense_Mutation_p.K831N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	833					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)			AAAAGTTGAAAGTGGAACACA	0.502000													10	50					0	0	0.006214	0	0
F8	2157	broad.mit.edu	37	X	154130390	154130390	+	Silent	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chrX:154130390C>T	ENST00000360256.4	-	19	6251	c.6051G>A	c.(6049-6051)gtG>gtA	p.V2017V		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2017	F5/8 type A 3.|Plastocyanin-like 6.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TAAGGCATTCCACCCGCCAAA	0.413000													27	54					0	0	0.004656	0	0
HCFC1	3054	broad.mit.edu	37	X	153215989	153215989	+	Silent	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chrX:153215989C>A	ENST00000310441.7	-	24	6675	c.5709G>T	c.(5707-5709)ccG>ccT	p.P1903P	HCFC1_ENST00000354233.3_Silent_p.P1834P|HCFC1_ENST00000369984.4_Silent_p.P1948P	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1903					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGCACCATCCGGACTCTAGA	0.552000													31	50					1.30897e-18	1.84096e-18	0.009535	1	0
NAALAD2	10003	broad.mit.edu	37	11	89892452	89892452	+	Silent	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr11:89892452C>A	ENST00000534061.1	+	8	1166	c.936C>A	c.(934-936)gcC>gcA	p.A312A	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Intron|NAALAD2_ENST00000525171.1_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	312	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGAAGGGAGCCCTTAATGTGA	0.358000													15	16					1.3612e-06	1.54309e-06	0.003163	1	0
BFAR	51283	broad.mit.edu	37	16	14738414	14738414	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr16:14738414C>T	ENST00000261658.2	+	2	488	c.211C>T	c.(211-213)Cca>Tca	p.P71S	BFAR_ENST00000426842.2_Missense_Mutation_p.S11F|BFAR_ENST00000563971.1_Missense_Mutation_p.P71S	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	71					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						AACAGAATGTCCAGAATGCAG	0.463000													34	111					0	0	0.013726	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195491	18195491	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr11:18195491C>A	ENST00000314254.3	+	1	1108	c.688C>A	c.(688-690)Ctg>Atg	p.L230M	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	230						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CCTCTGCGGCCTGCCCTTCGG	0.542000													15	41					1.05317e-09	1.31897e-09	0.002450	1	0
TEDDM1	127670	broad.mit.edu	37	1	182369068	182369068	+	Missense_Mutation	SNP	A	A	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr1:182369068A>C	ENST00000367565.1	-	1	683	c.553T>G	c.(553-555)Tac>Gac	p.Y185D		NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN	transmembrane epididymal protein 1	185						integral to membrane				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						TGCCATGGGTAGCCAGAGACG	0.493000													9	47					0	0	0.004482	0	0
PWWP2B	170394	broad.mit.edu	37	10	134218902	134218902	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr10:134218902G>C	ENST00000305233.5	+	2	957	c.898G>C	c.(898-900)Gag>Cag	p.E300Q	PWWP2B_ENST00000368609.4_Missense_Mutation_p.E300Q	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	300										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GCTGGACAGAGAGTCCCGGGA	0.716000													6	36					0	0	0.001984	0	0
ARF1	375	broad.mit.edu	37	1	228285584	228285584	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr1:228285584T>C	ENST00000541182.1	+	5	678	c.416T>C	c.(415-417)aTc>aCc	p.I139T	ARF1_ENST00000272102.5_Missense_Mutation_p.I139T|ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000540651.1_Missense_Mutation_p.I139T	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	139					cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				GCGGCCGAGATCACAGACAAG	0.632000													26	47					0	0	0.007291	0	0
COL14A1	7373	broad.mit.edu	37	8	121170441	121170441	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr8:121170441G>C	ENST00000297848.3	+	3	431	c.161G>C	c.(160-162)aGa>aCa	p.R54T	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.R54T|COL14A1_ENST00000537875.1_Missense_Mutation_p.R54T|COL14A1_ENST00000309791.4_Missense_Mutation_p.R54T	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	54	Fibronectin type-III 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.R54T(2)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAGGCTCCAAGAGGGAAATTT	0.363000													18	35					0	0	0.008871	0	0
IFRD1	3475	broad.mit.edu	37	7	112090830	112090830	+	Silent	SNP	G	G	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr7:112090830G>C	ENST00000403825.3	+	1	348	c.87G>C	c.(85-87)gcG>gcC	p.A29A	IFRD1_ENST00000005558.4_Silent_p.A29A|IFRD1_ENST00000429071.1_Silent_p.A29A	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	29	Poly-Ala.				multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						cgacggcggcgacagcagGTA	0.672000													11	40					0	0	0.008291	0	0
MED22	6837	broad.mit.edu	37	9	136213404	136213404	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr9:136213404C>G	ENST00000491289.1	-	2	695	c.114G>C	c.(112-114)aaG>aaC	p.K38N	MED22_ENST00000476080.1_Missense_Mutation_p.K38N|MED22_ENST00000471524.1_Intron|MED22_ENST00000344469.5_Missense_Mutation_p.K38N|MED22_ENST00000486395.1_Missense_Mutation_p.K38N|MED22_ENST00000343730.5_Missense_Mutation_p.K38N|MED22_ENST00000371999.1_Missense_Mutation_p.K38N			Q15528	MED22_HUMAN	mediator complex subunit 22	38					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		CCTTGGCGGTCTTGATGATCT	0.602000													24	41					0	0	0.004656	0	0
PTPRC	5788	broad.mit.edu	37	1	198711402	198711402	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr1:198711402C>T	ENST00000367376.2	+	25	2768	c.2597C>T	c.(2596-2598)gCc>gTc	p.A866V	PTPRC_ENST00000352140.3_Missense_Mutation_p.A818V|PTPRC_ENST00000442510.2_Missense_Mutation_p.A868V|PTPRC_ENST00000594404.1_Missense_Mutation_p.A705V|PTPRC_ENST00000348564.6_Missense_Mutation_p.A707V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	866	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GGAATTGATGCCATGCTAGAA	0.468000													87	59					0	0	0.014410	0	0
TRPM3	80036	broad.mit.edu	37	9	73477930	73477930	+	Missense_Mutation	SNP	T	T	G			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr9:73477930T>G	ENST00000377110.2	-	3	599	c.356A>C	c.(355-357)gAc>gCc	p.D119A	TRPM3_ENST00000396283.1_5'UTR|TRPM3_ENST00000423814.3_Missense_Mutation_p.D121A|TRPM3_ENST00000437699.3_5'UTR|TRPM3_ENST00000360823.2_5'UTR|TRPM3_ENST00000377101.1_5'UTR|TRPM3_ENST00000361823.5_5'UTR|TRPM3_ENST00000377111.2_Missense_Mutation_p.D119A|TRPM3_ENST00000377106.1_5'UTR|TRPM3_ENST00000357533.2_Missense_Mutation_p.D121A|TRPM3_ENST00000377105.1_5'UTR|TRPM3_ENST00000377097.3_5'UTR	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	119						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGACTGGATGTCATTTCGGGA	0.507000													7	77					0	0	0.001984	0	0
SKOR1	390598	broad.mit.edu	37	15	68124644	68124644	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr15:68124644G>A	ENST00000380035.2	+	6	2678	c.2620G>A	c.(2620-2622)Gag>Aag	p.E874K	SKOR1_ENST00000389002.1_Missense_Mutation_p.E830K|SKOR1_ENST00000341418.5_Missense_Mutation_p.E777K|SKOR1_ENST00000554054.1_Missense_Mutation_p.E846K|SKOR1_ENST00000554240.1_Missense_Mutation_p.E835K			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	874					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	p.E830K(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GGAACAAATGGAGCTCCGCAA	0.532000											OREG0023215	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	134					0	0	0.004482	0	0
FIS1	51024	broad.mit.edu	37	7	100884160	100884160	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr7:100884160T>C	ENST00000223136.4	-	3	286	c.206A>G	c.(205-207)gAa>gGa	p.E69G	FIS1_ENST00000442303.1_Silent_p.G45G|FIS1_ENST00000482199.1_5'UTR|FIS1_ENST00000474120.1_Silent_p.G14G	NM_016068.2	NP_057152.2	Q9Y3D6	FIS1_HUMAN	fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae)	69					apoptosis|mitochondrial fission|peroxisome fission	integral to mitochondrial outer membrane|integral to peroxisomal membrane	protein binding			kidney(1)|large_intestine(2)|lung(1)	4	Lung NSC(181;0.168)|all_lung(186;0.215)					ATCCCGCTGTTCCTCCTTGCT	0.582000													15	54					0	0	0.003163	0	0
GRIN1	2902	broad.mit.edu	37	9	140057730	140057730	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr9:140057730G>C	ENST00000371561.3	+	16	3378	c.2281G>C	c.(2281-2283)Ggc>Cgc	p.G761R	GRIN1_ENST00000315048.3_Missense_Mutation_p.G761R|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371560.3_Missense_Mutation_p.G782R|GRIN1_ENST00000371550.4_Missense_Mutation_p.G761R|GRIN1_ENST00000371553.3_Missense_Mutation_p.G782R|GRIN1_ENST00000371546.4_Missense_Mutation_p.G782R|GRIN1_ENST00000371555.4_Missense_Mutation_p.G782R|GRIN1_ENST00000371559.4_Missense_Mutation_p.G761R|GRIN1_ENST00000350902.5_Missense_Mutation_p.G761R	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	761					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)	CTTCGGCATAGGCATGCGCAA	0.637000													6	33					0	0	0.003080	0	0
PTPRN2	5799	broad.mit.edu	37	7	157414128	157414128	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr7:157414128G>A	ENST00000389413.3	-	14	2286	c.2183C>T	c.(2182-2184)gCg>gTg	p.A728V	PTPRN2_ENST00000389416.4_Missense_Mutation_p.A740V|PTPRN2_ENST00000389418.4_Missense_Mutation_p.A757V|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A780V|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A719V	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	757						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.A757V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GTTGGGCTCCGCCTGGTAGGC	0.627000													65	131					0	0	0.014410	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110466963	110466963	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr8:110466963G>T	ENST00000378402.5	+	45	6860	c.6756G>T	c.(6754-6756)gaG>gaT	p.E2252D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2252	G8 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGGAACAGAGACATCCCCAT	0.448000										HNSCC(38;0.096)			26	79					4.7796e-09	5.81961e-09	0.004656	1	0
KRTAP17-1	83902	broad.mit.edu	37	17	39471861	39471861	+	Silent	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr17:39471861C>T	ENST00000334202.3	-	1	86	c.42G>A	c.(40-42)caG>caA	p.Q14Q		NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	14						intermediate filament				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AGTTTTGCTCCTGGGTGCAGC	0.687000													16	40					0	0	0.006122	0	0
LBR	3930	broad.mit.edu	37	1	225598100	225598100	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr1:225598100T>C	ENST00000338179.2	-	10	1332	c.1207A>G	c.(1207-1209)Atg>Gtg	p.M403V	LBR_ENST00000272163.4_Missense_Mutation_p.M403V	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	403					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GCCAAAAGCATCACCAAGTTA	0.443000													7	67					0	0	0.001984	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195490	18195490	+	Silent	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr11:18195490C>A	ENST00000314254.3	+	1	1107	c.687C>A	c.(685-687)ggC>ggA	p.G229G	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	229						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TCCTCTGCGGCCTGCCCTTCG	0.542000													15	41					1.05317e-09	1.31897e-09	0.002450	1	0
LAMB3	3914	broad.mit.edu	37	1	209800794	209800794	+	Silent	SNP	G	G	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr1:209800794G>T	ENST00000391911.1	-	11	1808	c.1419C>A	c.(1417-1419)gcC>gcA	p.A473A	LAMB3_ENST00000367030.3_Silent_p.A473A|LAMB3_ENST00000356082.4_Silent_p.A473A	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	473	Laminin EGF-like 4.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CCTGGCCACTGGCCAGCTTCC	0.647000											OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	51					4.7796e-09	5.81961e-09	0.004656	1	0
ZNF800	168850	broad.mit.edu	37	7	127015090	127015090	+	Splice_Site	SNP	T	T	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr7:127015090T>A	ENST00000393313.1	-	5	893		c.e5-2		ZNF800_ENST00000265827.3_Splice_Site|ZNF800_ENST00000393312.1_Splice_Site			Q2TB10	ZN800_HUMAN	zinc finger protein 800						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CAGGAAGGTCTGTTAAGGAAA	0.318000											OREG0003806	type=REGULATORY REGION|Gene=BC037348|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	12	35					0	0	0.010729	0	0
KCND3	3752	broad.mit.edu	37	1	112524696	112524696	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr1:112524696C>A	ENST00000369697.1	-	1	722	c.653G>T	c.(652-654)tGc>tTc	p.C218F	KCND3_ENST00000302127.4_Missense_Mutation_p.C218F|KCND3_ENST00000315987.2_Missense_Mutation_p.C218F			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	218						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GCGCTCCCCGCACGGCAGCTC	0.647000													8	36					0.000157383	0.00017175	0.003080	1	0
HSD17B13	345275	broad.mit.edu	37	4	88243936	88243936	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr4:88243936C>G	ENST00000328546.4	-	1	122	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	HSD17B13_ENST00000302219.6_Missense_Mutation_p.E20Q|RP11-529H2.2_ENST00000508163.1_RNA	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	20						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		ACCAACGACTCCAAGTAGGAG	0.468000													11	30					0	0	0.001855	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	G	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr15:23205094G>A	ENST00000400153.2	-	0	760					NR_003521.1																						AGTACTGGAAGAACGTGGTTG	0.373000													3	19					0	0	0.004672	0	0
OR4K5	79317	broad.mit.edu	37	14	20389309	20389309	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr14:20389309C>A	ENST00000315915.4	+	1	569	c.544C>A	c.(544-546)Cct>Act	p.P182T		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGTGATCTTCCTCGAGTCAC	0.423000													49	53					8.86878e-18	1.23412e-17	0.014410	1	0
IGFALS	3483	broad.mit.edu	37	16	1841019	1841019	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr16:1841019C>T	ENST00000415638.3	-	2	1593	c.1514G>A	c.(1513-1515)cGc>cAc	p.R505H	IGFALS_ENST00000215539.3_Missense_Mutation_p.R467H	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	467					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CAGGCGGTTGCGGGAGAGCAG	0.701000													7	42					0	0	0.001984	0	0
LRRC45	201255	broad.mit.edu	37	17	79983380	79983380	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr17:79983380G>A	ENST00000306688.3	+	5	1000	c.658G>A	c.(658-660)Gtg>Atg	p.V220M		NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	220						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCTCAGAGCCGTGGGTACGGT	0.652000													20	23					0	0	0.008871	0	0
KMT2C	58508	broad.mit.edu	37	7	151878671	151878671	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr7:151878671C>A	ENST00000355193.2	-	36	6492	c.6274G>T	c.(6274-6276)Gat>Tat	p.D2092Y	KMT2C_ENST00000262189.6_Missense_Mutation_p.D2092Y					lysine (K)-specific methyltransferase 2C																		CTATATGGATCATTTGACTGA	0.453000													21	25					3.51602e-12	4.60056e-12	0.008871	1	0
MYH2	4620	broad.mit.edu	37	17	10426673	10426673	+	Silent	SNP	G	G	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr17:10426673G>C	ENST00000245503.5	-	38	5913	c.5529C>G	c.(5527-5529)gtC>gtG	p.V1843V	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.V1843V|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1843					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCAGACCTTTGACAGCCTCAG	0.468000													36	54					0	0	0.006999	0	0
KRT6B	3854	broad.mit.edu	37	12	52843283	52843283	+	Silent	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr12:52843283C>T	ENST00000252252.3	-	5	1094	c.1047G>A	c.(1045-1047)agG>agA	p.R349R		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	349	Coil 2.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CAGCCTCAGCCCTGCTCCTCT	0.557000													71	68					0	0	0.014410	0	0
ZNF311	282890	broad.mit.edu	37	6	28971320	28971320	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr6:28971320G>C	ENST00000377179.3	-	3	573	c.61C>G	c.(61-63)Cgc>Ggc	p.R21G	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.R21S(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						GTATCCTGGCGGGTCCAAAGC	0.507000													10	90					0	0	0.013537	0	0
PARP4	143	broad.mit.edu	37	13	25008744	25008744	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr13:25008744C>A	ENST00000381989.3	-	31	4640	c.4535G>T	c.(4534-4536)cGa>cTa	p.R1512L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1512					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GACAGGACATCGACTTCCTTC	0.428000													30	55					1.13719e-10	1.45893e-10	0.008361	1	0
C1orf85	112770	broad.mit.edu	37	1	156262990	156262990	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr1:156262990G>T	ENST00000362007.1	-	6	1092	c.1066C>A	c.(1066-1068)Ctg>Atg	p.L356M	C1orf85_ENST00000472870.1_Intron	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	356					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					CCCACACCCAGGAGCATCGAC	0.632000													46	48					4.21674e-32	6.16112e-32	0.014410	1	0
TSHZ2	128553	broad.mit.edu	37	20	51870518	51870518	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr20:51870518C>A	ENST00000371497.5	+	2	1408	c.521C>A	c.(520-522)tCc>tAc	p.S174Y	TSHZ2_ENST00000603338.2_Missense_Mutation_p.S171Y|TSHZ2_ENST00000329613.6_Missense_Mutation_p.S171Y	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	174					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GACGCTCTGTCCAAAAGCCTG	0.547000													22	41					1.2644e-06	1.43956e-06	0.010504	1	0
BFAR	51283	broad.mit.edu	37	16	14738369	14738369	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr16:14738369C>T	ENST00000261658.2	+	2	443	c.166C>T	c.(166-168)Cac>Tac	p.H56Y	BFAR_ENST00000426842.2_5'UTR|BFAR_ENST00000563971.1_Missense_Mutation_p.H56Y	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	56					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						CTTCTGCCGTCACTGCCTTGC	0.483000													45	131					0	0	0.014410	0	0
NRG1	3084	broad.mit.edu	37	8	32617912	32617912	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr8:32617912C>T	ENST00000338921.4	+	12	1797	c.1280C>T	c.(1279-1281)cCt>cTt	p.P427L	NRG1_ENST00000539990.1_Missense_Mutation_p.P262L|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287842.3_Missense_Mutation_p.P416L|NRG1_ENST00000287840.5_Missense_Mutation_p.P419L|NRG1_ENST00000523079.1_Missense_Mutation_p.P416L|NRG1_ENST00000405005.2_Missense_Mutation_p.P419L|NRG1_ENST00000519301.1_Missense_Mutation_p.P369L|NRG1_ENST00000521670.1_Missense_Mutation_p.P419L|NRG1_ENST00000356819.4_Missense_Mutation_p.P424L|NRG1_ENST00000287845.5_Missense_Mutation_p.P390L			Q02297	NRG1_HUMAN	neuregulin 1	419					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CGAGACTCTCCTCATAGTGAA	0.532000													40	79					0	0	0.006999	0	0
DNAH1	25981	broad.mit.edu	37	3	52390704	52390704	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr3:52390704C>G	ENST00000420323.2	+	22	4029	c.3768C>G	c.(3766-3768)atC>atG	p.I1256M		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1256	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGAGGACATCAACCAGCAGC	0.592000													4	23					0	0	0.000602	0	0
GNPTAB	79158	broad.mit.edu	37	12	102158580	102158580	+	Silent	SNP	T	T	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr12:102158580T>C	ENST00000299314.7	-	13	2377	c.2115A>G	c.(2113-2115)aaA>aaG	p.K705K		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	705					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ACTGGGCGTCTTTTGGAAGGA	0.423000													19	25					0	0	0.012319	0	0
RUNX3	864	broad.mit.edu	37	1	25233845	25233845	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr1:25233845C>A	ENST00000399916.1	-	5	1088	c.650G>T	c.(649-651)cGg>cTg	p.R217L	RUNX3_ENST00000540420.1_Missense_Mutation_p.R110L|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000338888.3_Missense_Mutation_p.R217L|RUNX3_ENST00000308873.6_Missense_Mutation_p.R203L	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	203	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		CATGCGCAGCCGTTCCAGGTC	0.652000													9	27					1.76689e-08	2.12189e-08	0.006214	1	0
INPP4A	3631	broad.mit.edu	37	2	99172084	99172084	+	Silent	SNP	G	G	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr2:99172084G>A	ENST00000074304.5	+	17	2043	c.1650G>A	c.(1648-1650)caG>caA	p.Q550Q	INPP4A_ENST00000545415.1_Silent_p.Q550Q|INPP4A_ENST00000523221.1_Silent_p.Q550Q|INPP4A_ENST00000409540.3_Silent_p.Q550Q|INPP4A_ENST00000409851.3_Silent_p.Q545Q|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.3_Silent_p.Q550Q	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	550					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						AGCTGCTGCAGAAGGAGCGGC	0.577000													5	58					0	0	0.001168	0	0
OR4A15	81328	broad.mit.edu	37	11	55135705	55135705	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr11:55135705G>A	ENST00000314706.3	+	1	346	c.346G>A	c.(346-348)Gag>Aag	p.E116K		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	116					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						CTTGCTCTCTGAGAAAAAGAC	0.403000													7	111					0	0	0.001984	0	0
KCNK7	10089	broad.mit.edu	37	11	65361297	65361297	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr11:65361297A>T	ENST00000394216.2	-	2	591	c.368T>A	c.(367-369)aTg>aAg	p.M123K	KCNK7_ENST00000342202.4_Missense_Mutation_p.M123K|KCNK7_ENST00000394217.2_Missense_Mutation_p.M123K|KCNK7_ENST00000340313.4_Missense_Mutation_p.M123K	NM_005714.1|NM_033455.1	NP_005705.1|NP_258416.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	123						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|liver(1)|lung(1)	3						TGCATAGACCATGCAGAAGGC	0.627000											OREG0021083	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	46					0	0	0.001168	0	0
SYNE2	23224	broad.mit.edu	37	14	64542737	64542737	+	Silent	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr14:64542737C>T	ENST00000357395.3	+	54	11171	c.27C>T	c.(25-27)tcC>tcT	p.S9S	SYNE2_ENST00000344113.4_Silent_p.S3647S|SYNE2_ENST00000555002.1_Silent_p.S281S|SYNE2_ENST00000554584.1_Silent_p.S3680S|SYNE2_ENST00000394768.2_Silent_p.S9S|SYNE2_ENST00000358025.3_Silent_p.S3647S			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3647	Actin-binding.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCAAGTATTCCGAAATGTACA	0.363000													6	14					0	0	0.001168	0	0
ITGAD	3681	broad.mit.edu	37	16	31429436	31429436	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr16:31429436C>A	ENST00000389202.2	+	21	2589	c.2540C>A	c.(2539-2541)aCa>aAa	p.T847K		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	847					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCATGTGAGACAGTGCCCACT	0.547000													46	70					1.61863e-15	2.20569e-15	0.014410	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110530508	110530508	+	Silent	SNP	T	T	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr8:110530508T>A	ENST00000378402.5	+	73	11906	c.11802T>A	c.(11800-11802)acT>acA	p.T3934T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3934					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAATTCACACTGCCACAGTGA	0.368000										HNSCC(38;0.096)			9	107					0	0	0.004482	0	0
L1CAM	3897	broad.mit.edu	37	X	153130402	153130402	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chrX:153130402C>T	ENST00000370060.1	-	23	3109	c.2920G>A	c.(2920-2922)Gaa>Aaa	p.E974K	L1CAM_ENST00000361699.4_Missense_Mutation_p.E974K|L1CAM_ENST00000370055.1_Missense_Mutation_p.E969K|L1CAM_ENST00000361981.3_Missense_Mutation_p.E969K|L1CAM_ENST00000543994.1_Missense_Mutation_p.E976K|L1CAM_ENST00000538883.1_Missense_Mutation_p.E976K|L1CAM_ENST00000370057.3_Missense_Mutation_p.E974K	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	974	Fibronectin type-III 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCCGAAGTTCGGGGTCCCGA	0.642000													59	127					0	0	0.014410	0	0
CCDC146	57639	broad.mit.edu	37	7	76891586	76891586	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr7:76891586A>T	ENST00000285871.4	+	9	1262	c.1135A>T	c.(1135-1137)Agg>Tgg	p.R379W	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Missense_Mutation_p.R125W	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	379										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GGATGCACTTAGGCAAACTCA	0.388000													9	24					0	0	0.010729	0	0
POLRMT	5442	broad.mit.edu	37	19	621719	621719	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr19:621719G>C	ENST00000588649.2	-	10	2063	c.1979C>G	c.(1978-1980)tCt>tGt	p.S660C		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	660					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAAGCACCAGAGTGCGGCGA	0.672000													3	12					0	0	0.004672	0	0
UNC79	57578	broad.mit.edu	37	14	94079309	94079309	+	Silent	SNP	G	G	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr14:94079309G>T	ENST00000553484.1	+	28	4141	c.3987G>T	c.(3985-3987)acG>acT	p.T1329T	UNC79_ENST00000256339.4_Silent_p.T1130T|UNC79_ENST00000555664.1_Silent_p.T1307T|UNC79_ENST00000393151.2_Silent_p.T1307T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1307						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCTTCAACACGGTCAAGCGAC	0.488000													12	14					1.49906e-05	1.67767e-05	0.002450	1	0
PCDHGB4	8641	broad.mit.edu	37	5	140768908	140768908	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr5:140768908C>G	ENST00000519479.1	+	1	1457	c.1457C>G	c.(1456-1458)tCt>tGt	p.S486C	PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCAAGTCTCTTACTGCATC	0.597000													18	86					0	0	0.007413	0	0
ASPM	259266	broad.mit.edu	37	1	197070009	197070009	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr1:197070009C>A	ENST00000367409.4	-	18	8628	c.8372G>T	c.(8371-8373)gGt>gTt	p.G2791V	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2791					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AATCATAACACCTTCACTTTG	0.393000													21	57					1.01871e-10	1.31334e-10	0.008871	1	0
UBQLN3	50613	broad.mit.edu	37	11	5529627	5529627	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr11:5529627G>A	ENST00000311659.4	-	2	1309	c.1162C>T	c.(1162-1164)Cag>Tag	p.Q388*	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	388										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGGCTCCTGAGATGAGGGT	0.567000													7	119					0	0	0.001984	0	0
RBM41	55285	broad.mit.edu	37	X	106359107	106359107	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chrX:106359107A>T	ENST00000372487.1	-	3	329	c.303T>A	c.(301-303)caT>caA	p.H101Q	RBM41_ENST00000471079.1_5'UTR|RBM41_ENST00000372479.3_Missense_Mutation_p.H101Q|RBM41_ENST00000203616.8_Missense_Mutation_p.H101Q	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	101							nucleotide binding|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						CACCAGAAACATGGCTCTTCC	0.403000													48	84					0	0	0.014410	0	0
ZNF33A	7581	broad.mit.edu	37	10	38345022	38345022	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr10:38345022G>T	ENST00000374618.3	+	5	2148	c.1970G>T	c.(1969-1971)aGa>aTa	p.R657I	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000458705.2_Missense_Mutation_p.R656I|ZNF33A_ENST00000307441.9_Missense_Mutation_p.R656I|ZNF33A_ENST00000432900.2_Missense_Mutation_p.R663I	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	656						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GTACATCAGAGAACCCATACA	0.393000													21	28					6.33239e-15	8.58463e-15	0.010504	1	0
UPF1	5976	broad.mit.edu	37	19	18975033	18975033	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr19:18975033G>T	ENST00000262803.5	+	20	3102	c.2830G>T	c.(2830-2832)Ggc>Tgc	p.G944C	UPF1_ENST00000599848.1_Missense_Mutation_p.G955C	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	955					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CATCATCCCAGGCTCCGTCTA	0.597000													33	37					2.85442e-18	3.99315e-18	0.010818	1	0
FBXL15	79176	broad.mit.edu	37	10	104182723	104182723	+	Silent	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr10:104182723C>T	ENST00000224862.3	+	4	2192	c.876C>T	c.(874-876)ttC>ttT	p.F292F	FBXL15_ENST00000369956.2_Silent_p.F288F	NM_024326.3	NP_077302.3	Q9H469	FXL15_HUMAN	F-box and leucine-rich repeat protein 15	292					bone mineralization|dorsal/ventral pattern formation|G2/M transition of mitotic cell cycle|positive regulation of BMP signaling pathway|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding			kidney(1)	1		Colorectal(252;0.207)		Epithelial(162;1.19e-08)|all cancers(201;2.65e-07)		TGGCGGGCTTCGCACCTTTTG	0.647000											OREG0020479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	8					0	0	0.009096	0	0
RYR3	6263	broad.mit.edu	37	15	33962735	33962735	+	Silent	SNP	G	G	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr15:33962735G>C	ENST00000389232.4	+	38	5908	c.5838G>C	c.(5836-5838)acG>acC	p.T1946T	RYR3_ENST00000415757.3_Silent_p.T1946T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1946	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.T1946T(1)		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)		AGCAGCCGACGGAGGAGGAGG	0.453000													15	43					0	0	0.006122	0	0
BCAP31	10134	broad.mit.edu	37	X	152981134	152981134	+	Silent	SNP	G	G	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chrX:152981134G>A	ENST00000458587.2	-	4	834	c.405C>T	c.(403-405)cgC>cgT	p.R135R	BCAP31_ENST00000477175.1_5'UTR|BCAP31_ENST00000441714.1_Silent_p.R68R|BCAP31_ENST00000345046.6_Silent_p.R68R	NM_001139441.1|NM_001139457.2	NP_001132913.1|NP_001132929.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	68					cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane	receptor binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCGAATTTCGCGCACGGCAT	0.552000													18	108					0	0	0.010504	0	0
LAGE3	8270	broad.mit.edu	37	X	153707110	153707110	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chrX:153707110C>G	ENST00000357360.4	-	1	486	c.145G>C	c.(145-147)Gcc>Ccc	p.A49P	LAGE3_ENST00000407062.1_Missense_Mutation_p.A49P	NM_006014.3	NP_006005.2	Q14657	LAGE3_HUMAN	L antigen family, member 3	49							protein binding			lung(2)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGACGCGGCGTCTCTGCCC	0.731000													4	13					0	0	0.000602	0	0
LIPG	9388	broad.mit.edu	37	18	47107935	47107935	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr18:47107935G>A	ENST00000261292.4	+	6	1222	c.944G>A	c.(943-945)cGt>cAt	p.R315H	LIPG_ENST00000427224.2_Missense_Mutation_p.R241H|LIPG_ENST00000577628.1_Missense_Mutation_p.R351H|LIPG_ENST00000580036.1_Missense_Mutation_p.R315H	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	315					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	p.R315H(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CGCAAGAACCGTTGTAATAGC	0.478000													7	83					0	0	0.001984	0	0
KLHL34	257240	broad.mit.edu	37	X	21674661	21674661	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chrX:21674661C>T	ENST00000379499.2	-	1	1787	c.1246G>A	c.(1246-1248)Gcc>Acc	p.A416T		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	416										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CAGAAGTGGGCCCGCGCTTCC	0.726000													12	8					0	0	0.010729	0	0
RHOT1	55288	broad.mit.edu	37	17	30510194	30510194	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr17:30510194C>T	ENST00000358365.3	+	8	670	c.443C>T	c.(442-444)tCa>tTa	p.S148L	RHOT1_ENST00000581094.1_Missense_Mutation_p.S148L|RHOT1_ENST00000580976.1_Intron|RHOT1_ENST00000545287.2_Missense_Mutation_p.S148L|RHOT1_ENST00000394692.2_Missense_Mutation_p.S148L|RHOT1_ENST00000354266.3_Missense_Mutation_p.S127L|RHOT1_ENST00000333942.6_Missense_Mutation_p.S148L|RHOT1_ENST00000583994.1_Missense_Mutation_p.S21L	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	148	Miro 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TTTCAGTGTTCAGCGAAAAAC	0.353000													23	27					0	0	0.003330	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150131275	150131275	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr1:150131275C>T	ENST00000369124.4	+	6	1065	c.787C>T	c.(787-789)Ccc>Tcc	p.P263S	PLEKHO1_ENST00000025469.6_Missense_Mutation_p.P229S|PLEKHO1_ENST00000369126.1_Missense_Mutation_p.P80S	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	263	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAAGTTGACGCCCACAGAGAA	0.642000													5	50					0	0	0.000602	0	0
SYT7	9066	broad.mit.edu	37	11	61318893	61318893	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr11:61318893C>T	ENST00000263846.4	-	3	505	c.178G>A	c.(178-180)Gac>Aac	p.D60N	SYT7_ENST00000535826.1_Missense_Mutation_p.D60N|SYT7_ENST00000542670.1_Missense_Mutation_p.D60N|SYT7_ENST00000539008.1_Missense_Mutation_p.D60N|SYT7_ENST00000540677.1_Missense_Mutation_p.D60N|SYT7_ENST00000542836.1_Missense_Mutation_p.D60N	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	60						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGCCCTGAGTCTGGCGTGCCC	0.597000													16	55					0	0	0.008871	0	0
STXBP4	252983	broad.mit.edu	37	17	53084899	53084899	+	Silent	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr17:53084899C>T	ENST00000376352.2	+	8	814	c.607C>T	c.(607-609)Cta>Tta	p.L203L	STXBP4_ENST00000434978.2_Silent_p.L203L|STXBP4_ENST00000398391.2_Silent_p.L128L|STXBP4_ENST00000299341.4_Silent_p.L128L|STXBP4_ENST00000405898.1_Silent_p.L203L	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	203						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AAATTATGGGCTACAAGAAAA	0.353000													134	229					0	0	0.014410	0	0
AOC4P	90586	broad.mit.edu	37	17	41020274	41020274	+	RNA	SNP	A	A	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr17:41020274A>T	ENST00000585538.1	+	0	1113					NR_002773.1																						TGTCCAGGGAAGTCGAGTGGC	0.627000													4	11					0	0	0.000602	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140723710	140723710	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr5:140723710A>G	ENST00000253812.6	+	1	110	c.110A>G	c.(109-111)gAg>gGg	p.E37G	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGTGTCTGAGGAGCTAGAT	0.622000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	154					0	0	0.008361	0	0
KANK1	23189	broad.mit.edu	37	9	711044	711044	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr9:711044C>T	ENST00000382303.1	+	7	930	c.278C>T	c.(277-279)tCa>tTa	p.S93L	KANK1_ENST00000382293.3_5'UTR|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.S93L	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	93					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GAATCCCTCTCATCCTCCAAC	0.527000													9	74					0	0	0.008291	0	0
PTPRC	5788	broad.mit.edu	37	1	198713307	198713307	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr1:198713307C>G	ENST00000367376.2	+	26	2987	c.2816C>G	c.(2815-2817)cCg>cGg	p.P939R	PTPRC_ENST00000352140.3_Missense_Mutation_p.P891R|PTPRC_ENST00000442510.2_Missense_Mutation_p.P941R|PTPRC_ENST00000594404.1_Missense_Mutation_p.P778R|PTPRC_ENST00000348564.6_Missense_Mutation_p.P780R	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	939					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CCCAGTGAGCCGTCTCCACTA	0.368000													11	6					0	0	0.002450	0	0
BOK	666	broad.mit.edu	37	2	242511798	242511798	+	Silent	SNP	C	C	T	rs148652354		TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr2:242511798C>T	ENST00000318407.3	+	5	902	c.600C>T	c.(598-600)ttC>ttT	p.F200F		NM_032515.4	NP_115904.1	Q9UMX3	BOK_HUMAN	BCL2-related ovarian killer	200					activation of caspase activity|cell proliferation|signal transduction by p53 class mediator resulting in induction of apoptosis	mitochondrial membrane|nucleus				large_intestine(1)|lung(3)|ovary(1)	5		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)		TCGGCCGCTTCCTGAAGGCTG	0.657000													7	11					0	0	0.001984	0	0
TENM1	10178	broad.mit.edu	37	X	123779098	123779098	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chrX:123779098C>T	ENST00000422452.2	-	10	1834	c.1771G>A	c.(1771-1773)Gtt>Att	p.V591I	TENM1_ENST00000371130.3_Missense_Mutation_p.V591I	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TCTTCCGGAACGTCACACTCT	0.532000													87	183					0	0	0.014410	0	0
NBEA	26960	broad.mit.edu	37	13	35756583	35756583	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr13:35756583A>T	ENST00000540320.1	+	29	5283	c.4749A>T	c.(4747-4749)ttA>ttT	p.L1583F	NBEA_ENST00000310336.4_Missense_Mutation_p.L1583F|NBEA_ENST00000400445.3_Missense_Mutation_p.L1583F|NBEA_ENST00000379939.2_Missense_Mutation_p.L1580F			Q8NFP9	NBEA_HUMAN	neurobeachin	1583						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTGACATATTAGAACCCCAGA	0.383000													16	37					0	0	0.003163	0	0
GEMIN5	25929	broad.mit.edu	37	5	154292552	154292552	+	Silent	SNP	G	G	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr5:154292552G>A	ENST00000285873.7	-	14	1977	c.1902C>T	c.(1900-1902)acC>acT	p.T634T		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	634					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCCTGAGAGGGTCCGGTAGG	0.493000													17	35					0	0	0.004007	0	0
CSMD1	64478	broad.mit.edu	37	8	2967821	2967821	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr8:2967821G>T	ENST00000602557.1	-	44	7025	c.6470C>A	c.(6469-6471)aCc>aAc	p.T2157N	CSMD1_ENST00000602723.1_Missense_Mutation_p.T2157N|CSMD1_ENST00000542608.1_Missense_Mutation_p.T2156N|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2156N|CSMD1_ENST00000400186.3_Missense_Mutation_p.T2157N|CSMD1_ENST00000520002.1_Missense_Mutation_p.T2157N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2157	CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGAGTAGATGGTGCCGTTCTG	0.483000													9	15					0.00448238	0.0047344	0.004482	1	0
PIK3C2B	5287	broad.mit.edu	37	1	204413539	204413539	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr1:204413539C>A	ENST00000367187.3	-	18	3248	c.2692G>T	c.(2692-2694)Gag>Tag	p.E898*	PIK3C2B_ENST00000424712.2_Nonsense_Mutation_p.E870*	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	898					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CGACGCACCTCCTGGTCCGGG	0.597000													17	8					0.00400662	0.00424896	0.004007	1	0
BFAR	51283	broad.mit.edu	37	16	14738306	14738306	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr16:14738306C>T	ENST00000261658.2	+	2	380	c.103C>T	c.(103-105)Cac>Tac	p.H35Y	BFAR_ENST00000426842.2_5'UTR|BFAR_ENST00000563971.1_Missense_Mutation_p.H35Y	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	35					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						ATTTTCTTGCCACTGCTGCTA	0.488000													29	149					0	0	0.004289	0	0
CD1B	910	broad.mit.edu	37	1	158299853	158299853	+	Silent	SNP	C	C	G			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr1:158299853C>G	ENST00000368168.3	-	3	503	c.396G>C	c.(394-396)ctG>ctC	p.L132L		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	132					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GAGCTCCCCTCAGGAAGCTTA	0.488000													14	233					0	0	0.004990	0	0
GORASP2	26003	broad.mit.edu	37	2	171806226	171806226	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr2:171806226G>T	ENST00000234160.4	+	3	1137	c.322G>T	c.(322-324)Gca>Tca	p.A108S	GORASP2_ENST00000493692.1_3'UTR|GORASP2_ENST00000452526.2_Missense_Mutation_p.A120S	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	108						Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						CTTTGATGGGGCAAATGAAAA	0.463000													32	92					9.04072e-19	1.27834e-18	0.003271	1	0
CDH6	1004	broad.mit.edu	37	5	31299689	31299689	+	Silent	SNP	G	G	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr5:31299689G>A	ENST00000265071.2	+	5	1027	c.762G>A	c.(760-762)gtG>gtA	p.V254V	CDH6_ENST00000514738.1_Silent_p.V199V	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	254	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCACCACCGTGAACATCACAC	0.473000													13	113					0	0	0.001855	0	0
NOC2L	26155	broad.mit.edu	37	1	889175	889175	+	Missense_Mutation	SNP	C	C	T	rs143094540		TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr1:889175C>T	ENST00000327044.6	-	8	924	c.875G>A	c.(874-876)cGc>cAc	p.R292H		NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	292						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GAGCAGCATGCGGCACTGCTT	0.672000													3	26					0	0	0.004672	0	0
SCARF1	8578	broad.mit.edu	37	17	1540332	1540332	+	Silent	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr17:1540332C>A	ENST00000263071.4	-	9	1438	c.1389G>T	c.(1387-1389)gtG>gtT	p.V463V	SCARF1_ENST00000571272.1_Silent_p.V463V|SCARF1_ENST00000348987.3_Silent_p.V377V	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	463					cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCATCCTGGACACGGTAGCTC	0.627000													14	73					3.27435e-08	3.89663e-08	0.002450	1	0
TNPO3	23534	broad.mit.edu	37	7	128612636	128612636	+	Splice_Site	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr7:128612636C>A	ENST00000393245.1	-	19	2749	c.2375_splice	c.e19-1	p.R792_splice	TNPO3_ENST00000471166.1_Splice_Site_p.R792_splice|TNPO3_ENST00000471234.1_Splice_Site_p.R694_splice|TNPO3_ENST00000482320.1_Splice_Site_p.R692_splice|TNPO3_ENST00000265388.5_Splice_Site_p.R758_splice	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	758					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GCTGAATAAACCTGGTGTGGA	0.478000													10	22					0.000673444	0.000725884	0.008291	1	0
FAM46D	169966	broad.mit.edu	37	X	79699022	79699022	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chrX:79699022G>T	ENST00000538312.1	+	5	1318	c.984G>T	c.(982-984)atG>atT	p.M328I	FAM46D_ENST00000308293.5_Missense_Mutation_p.M328I	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	328										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TCACCATGATGGCTTTGAAAG	0.418000													28	45					1.42536e-11	1.84664e-11	0.004656	1	0
NF1	4763	broad.mit.edu	37	17	29664508	29664508	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr17:29664508G>A	ENST00000358273.4	+	43	6933	c.6550G>A	c.(6550-6552)Gac>Aac	p.D2184N	NF1_ENST00000356175.3_Missense_Mutation_p.D2163N	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2184					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAGTTACCGGGACAGGTCATT	0.448000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			9	48					0	0	0.004482	0	0
NTRK2	4915	broad.mit.edu	37	9	87366961	87366961	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr9:87366961C>A	ENST00000304053.6	+	12	1840	c.1357C>A	c.(1357-1359)Ctg>Atg	p.L453M	NTRK2_ENST00000277120.3_Missense_Mutation_p.L453M|NTRK2_ENST00000359847.3_Missense_Mutation_p.L453M|NTRK2_ENST00000376213.1_Missense_Mutation_p.L453M|NTRK2_ENST00000395882.1_Missense_Mutation_p.L453M|NTRK2_ENST00000376208.1_Missense_Mutation_p.L453M|NTRK2_ENST00000376214.1_Missense_Mutation_p.L453M|NTRK2_ENST00000323115.4_Missense_Mutation_p.L453M|NTRK2_ENST00000395866.2_Missense_Mutation_p.L297M	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	453					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						AATGCTGTTTCTGCTTAAGTT	0.418000										TSP Lung(25;0.17)			15	20					1.15088e-07	1.3393e-07	0.004007	1	0
ADCY8	114	broad.mit.edu	37	8	131861865	131861865	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr8:131861865C>A	ENST00000286355.5	-	10	4487	c.2395G>T	c.(2395-2397)Ggt>Tgt	p.G799C	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	799					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.G799F(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAGATGGCACCCAGGAAATTA	0.458000										HNSCC(32;0.087)			4	31					4.096e-09	5.0575e-09	0.001168	1	0
USH2A	7399	broad.mit.edu	37	1	216172401	216172401	+	Splice_Site	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr1:216172401C>A	ENST00000366943.2	-	34	6872		c.e34-1		USH2A_ENST00000307340.3_Splice_Site			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)						maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGTTTCCACCTGGGAATGGT	0.308000										HNSCC(13;0.011)			27	17					1.04121e-07	1.22249e-07	0.005443	1	0
AIPL1	23746	broad.mit.edu	37	17	6330284	6330284	+	Silent	SNP	G	G	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr17:6330284G>T	ENST00000381129.3	-	4	639	c.559C>A	c.(559-561)Cgg>Agg	p.R187R	AIPL1_ENST00000575265.1_Silent_p.R187R|AIPL1_ENST00000576307.1_Silent_p.R127R|AIPL1_ENST00000574506.1_Silent_p.R175R|AIPL1_ENST00000571740.1_Silent_p.R179R|AIPL1_ENST00000570466.1_Silent_p.R165R|AIPL1_ENST00000576776.1_Silent_p.R187R|AIPL1_ENST00000250087.5_Silent_p.R124R	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	187					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		TTGAAGAGCCGATTTCCCTCT	0.602000													15	102					6.49762e-13	8.67449e-13	0.006122	1	0
ZNF883	169834	broad.mit.edu	37	9	115760610	115760610	+	RNA	SNP	T	T	A	rs11971	by1000genomes	TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr9:115760610T>A	ENST00000427548.1	-	0	1203							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TGTTGGCTTTTCATTTATTTC	0.279000													3	21					0	0	0.004672	0	0
ALPK2	115701	broad.mit.edu	37	18	56246184	56246184	+	Silent	SNP	T	T	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr18:56246184T>A	ENST00000361673.3	-	4	2037	c.1824A>T	c.(1822-1824)gcA>gcT	p.A608A	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	608							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTCTTGCTCTGCCTGGGTTG	0.453000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	32					0	0	0.013726	0	0
PIM2	11040	broad.mit.edu	37	X	48775876	48775876	+	Silent	SNP	G	G	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chrX:48775876G>T	ENST00000376509.4	-	2	297	c.108C>A	c.(106-108)ccC>ccA	p.P36P		NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	pim-2 oncogene	36	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						TACCCAGGAGGGGGCCGAGTC	0.657000													17	35					2.5808e-16	3.53515e-16	0.006122	1	0
P2RX3	5024	broad.mit.edu	37	11	57114626	57114626	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr11:57114626G>C	ENST00000263314.2	+	3	326	c.292G>C	c.(292-294)Gtt>Ctt	p.V98L		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	98					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CAAGATGATTGTTACTGAAAA	0.498000													9	37					0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179478655	179478655	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr2:179478655C>A	ENST00000589042.1	-	263	49579	c.49355G>T	c.(49354-49356)gGt>gTt	p.G16452V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G7579V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G14811V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G13884V|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G7387V|TTN_ENST00000359218.5_Missense_Mutation_p.G7512V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14811	Fibronectin type-III 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTGGAGGACCAGGTGGATC	0.408000													54	79					3.10996e-30	4.5189e-30	0.014410	1	0
TMEFF1	8577	broad.mit.edu	37	9	103261080	103261080	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr9:103261080G>T	ENST00000374879.4	+	2	662	c.230G>T	c.(229-231)tGt>tTt	p.C77F	MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.L40F|TMEFF1_ENST00000334943.6_Missense_Mutation_p.C38F	NM_003692.4	NP_003683.2			transmembrane protein with EGF-like and two follistatin-like domains 1											NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				GTAAGAGTTTGTGATGAGTCA	0.378000													6	28					0.000157383	0.00017175	0.003080	1	0
R3HCC1L	27291	broad.mit.edu	37	10	99968825	99968825	+	Silent	SNP	A	A	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr10:99968825A>T	ENST00000298999.3	+	5	1257	c.954A>T	c.(952-954)tcA>tcT	p.S318S	R3HCC1L_ENST00000370584.3_Silent_p.S318S|R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like																		TCTCTCTGTCAGAGAGCACAA	0.403000													15	49					0	0	0.004007	0	0
LINGO4	339398	broad.mit.edu	37	1	151773696	151773696	+	Silent	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr1:151773696C>T	ENST00000368820.3	-	2	2422	c.1485G>A	c.(1483-1485)ctG>ctA	p.L495L		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	495	Ig-like C2-type.					integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCAGGTCCTCAGGGAGTCAT	0.567000													22	217					0	0	0.002780	0	0
SNHG11	128439	broad.mit.edu	37	20	37076807	37076807	+	RNA	SNP	T	T	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr20:37076807T>C	ENST00000365032.1	+	0	81																											GAAAGGTTGCTGTGTTTGGAG	0.572000													53	85					0	0	0.014410	0	0
EMC1	23065	broad.mit.edu	37	1	19549906	19549906	+	Nonsense_Mutation	SNP	G	G	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr1:19549906G>C	ENST00000477853.1	-	19	2402	c.2360C>G	c.(2359-2361)tCa>tGa	p.S787*	EMC1_ENST00000375199.3_Nonsense_Mutation_p.S786*|EMC1_ENST00000375208.3_Nonsense_Mutation_p.S765*|RP1-43E13.2_ENST00000437898.1_RNA	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1																		CCAGTTCTCTGAATGCACGAT	0.537000													29	120					0	0	0.008361	0	0
ADAM29	11086	broad.mit.edu	37	4	175898069	175898069	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr4:175898069C>T	ENST00000359240.3	+	5	2063	c.1393C>T	c.(1393-1395)Cca>Tca	p.P465S	ADAM29_ENST00000514159.1_Missense_Mutation_p.P465S|ADAM29_ENST00000445694.1_Missense_Mutation_p.P465S|ADAM29_ENST00000404450.4_Missense_Mutation_p.P465S	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	465	Disintegrin.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ATGTGATCTTCCAGAGTGGTG	0.453000													28	38					0	0	0.005443	0	0
MYO7B	4648	broad.mit.edu	37	2	128394466	128394466	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr2:128394466G>C	ENST00000389524.4	+	46	6283	c.6230G>C	c.(6229-6231)cGc>cCc	p.R2077P	MYO7B_ENST00000409816.2_Missense_Mutation_p.R2076P|MYO7B_ENST00000409090.1_Missense_Mutation_p.R929P|MYO7B_ENST00000428314.1_Missense_Mutation_p.R2076P			Q6PIF6	MYO7B_HUMAN	myosin VIIB	2076	FERM 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CGTGGCAGCCGCCTGCTGTGC	0.622000													9	89					0	0	0.004482	0	0
DNAH5	1767	broad.mit.edu	37	5	13919372	13919372	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr5:13919372C>A	ENST00000265104.4	-	7	992	c.888G>T	c.(886-888)aaG>aaT	p.K296N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	296	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGTAGTTAAACTTGGAGAGTC	0.517000									Kartagener syndrome				15	290					1.05317e-09	1.31897e-09	0.002450	1	0
C11orf63	79864	broad.mit.edu	37	11	122817321	122817321	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr11:122817321A>T	ENST00000227349.2	+	6	2047	c.1750A>T	c.(1750-1752)Agt>Tgt	p.S584C	C11orf63_ENST00000531316.1_Missense_Mutation_p.S584C	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	584										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CGTGCAGCCCAGTGAAGGGGC	0.517000													20	14					0	0	0.008871	0	0
GPC3	2719	broad.mit.edu	37	X	132670153	132670153	+	Silent	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chrX:132670153C>T	ENST00000370818.3	-	8	2187	c.1742G>A	c.(1741-1743)tGa>tAa	p.*581*	GPC3_ENST00000543339.1_Silent_p.*527*|GPC3_ENST00000394299.2_Silent_p.*604*	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	0						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					ACCAGGCAGTCAGTGCACCAG	0.488000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				11	50					0	0	0.001855	0	0
TTC7A	57217	broad.mit.edu	37	2	47206041	47206041	+	Silent	SNP	G	G	A	rs139225535		TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr2:47206041G>A	ENST00000319190.5	+	5	1127	c.759G>A	c.(757-759)aaG>aaA	p.K253K	TTC7A_ENST00000409245.1_Silent_p.K219K|TTC7A_ENST00000394850.2_Silent_p.K253K|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000263737.6_5'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	253							binding	p.K253K(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			AAAACCTGAAGAAGGGGTAGG	0.557000													12	22					0	0	0.010729	0	0
C7orf50	84310	broad.mit.edu	37	7	1049627	1049627	+	Silent	SNP	G	G	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr7:1049627G>A	ENST00000397098.3	-	3	1208	c.282C>T	c.(280-282)gcC>gcT	p.A94A	C7orf50_ENST00000397100.2_Silent_p.A94A|C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000357429.6_Silent_p.A94A			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	94							protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		CCGAGCGCCTGGCAGGCGGGT	0.667000													7	5					0	0	0.001984	0	0
AP1G1	164	broad.mit.edu	37	16	71779392	71779392	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr16:71779392G>A	ENST00000299980.4	-	18	2297	c.1856C>T	c.(1855-1857)cCa>cTa	p.P619L	AP1G1_ENST00000564155.1_Missense_Mutation_p.P44L|AP1G1_ENST00000423132.2_Missense_Mutation_p.P622L|AP1G1_ENST00000569748.1_Missense_Mutation_p.P619L|AP1G1_ENST00000433195.2_Missense_Mutation_p.P642L|AP1G1_ENST00000393512.3_Missense_Mutation_p.P622L	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	619					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GGTGGGCTGTGGCCCAGAGGG	0.507000													50	144					0	0	0.014410	0	0
FSIP2	401024	broad.mit.edu	37	2	186672753	186672753	+	Silent	SNP	T	T	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr2:186672753T>A	ENST00000343098.5	+	17	18987	c.18987T>A	c.(18985-18987)acT>acA	p.T6329T	FSIP2_ENST00000424728.1_Silent_p.T6240T	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AATCACCTACTGTGCCTGTAG	0.318000													8	28					0	0	0.004482	0	0
ACACA	31	broad.mit.edu	37	17	35506832	35506832	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr17:35506832C>T	ENST00000353139.5	-	45	6116	c.5635G>A	c.(5635-5637)Gag>Aag	p.E1879K	ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000335166.5_Missense_Mutation_p.E1764K|ACACA_ENST00000394406.2_Missense_Mutation_p.E1842K|ACACA_ENST00000360679.3_Missense_Mutation_p.E1784K	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1842	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGAGAATTCTCAACCTGGATG	0.428000													9	55					0	0	0.010729	0	0
CSPP1	79848	broad.mit.edu	37	8	68102951	68102951	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr8:68102951C>A	ENST00000262210.5	+	27	3303	c.3272C>A	c.(3271-3273)tCt>tAt	p.S1091Y	CSPP1_ENST00000521168.1_3'UTR|ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000412460.1_Missense_Mutation_p.S746Y	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1126						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CAGTTGCCCTCTGCACGGGAG	0.493000													36	97					1.8453e-21	2.65198e-21	0.010771	1	0
C4orf17	84103	broad.mit.edu	37	4	100463155	100463155	+	Silent	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr4:100463155C>A	ENST00000326581.4	+	9	1331	c.969C>A	c.(967-969)ccC>ccA	p.P323P		NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	323										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		ATTCTCCTCCCAGGCCTAACA	0.418000													8	36					5.4927e-09	6.65706e-09	0.004482	1	0
ZBTB20	26137	broad.mit.edu	37	3	114070243	114070243	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr3:114070243C>A	ENST00000462705.1	-	11	1284	c.463G>T	c.(463-465)Gag>Tag	p.E155*	ZBTB20_ENST00000471418.1_Nonsense_Mutation_p.E155*|ZBTB20_ENST00000357258.3_Nonsense_Mutation_p.E155*|ZBTB20_ENST00000481632.1_Nonsense_Mutation_p.E155*|ZBTB20_ENST00000474710.1_Nonsense_Mutation_p.E228*|ZBTB20_ENST00000393785.2_Nonsense_Mutation_p.E155*|ZBTB20_ENST00000464560.1_Nonsense_Mutation_p.E155*	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	228	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TAGCCCGACTCCGTGTCGCTG	0.657000													35	22					1.07637e-12	1.42972e-12	0.004878	1	0
BFAR	51283	broad.mit.edu	37	16	14738324	14738324	+	Silent	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr16:14738324C>T	ENST00000261658.2	+	2	398	c.121C>T	c.(121-123)Ctg>Ttg	p.L41L	BFAR_ENST00000426842.2_5'UTR|BFAR_ENST00000563971.1_Silent_p.L41L	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	41					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						CTACGACATCCTGGTTAACCC	0.483000													27	159					0	0	0.005524	0	0
HSD17B14	51171	broad.mit.edu	37	19	49339627	49339627	+	Silent	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr19:49339627C>A	ENST00000263278.4	-	1	308	c.42G>T	c.(40-42)gtG>gtT	p.V14V	HSD17B14_ENST00000599157.1_Silent_p.V14V	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	14					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		CGCCCCCGGTCACGACCACCA	0.652000											OREG0025610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	62					4.74835e-14	6.40419e-14	0.010818	1	0
IFIH1	64135	broad.mit.edu	37	2	163133358	163133358	+	Missense_Mutation	SNP	T	T	G			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr2:163133358T>G	ENST00000263642.2	-	11	2538	c.2143A>C	c.(2143-2145)Act>Cct	p.T715P		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	715	Helicase C-terminal.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GATTCCTCAGTCCTAGTATAT	0.358000													36	99					0	0	0.005524	0	0
DNAH5	1767	broad.mit.edu	37	5	13919373	13919373	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr5:13919373T>A	ENST00000265104.4	-	7	991	c.887A>T	c.(886-888)aAg>aTg	p.K296M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	296	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTAGTTAAACTTGGAGAGTCT	0.522000									Kartagener syndrome				15	293					0	0	0.002450	0	0
TXNRD3NB	645840	broad.mit.edu	37	3	126291177	126291177	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr3:126291177C>A	ENST00000383572.2	-	3	688	c.210G>T	c.(208-210)aaG>aaT	p.K70N	TXNRD3NB_ENST00000404489.2_Missense_Mutation_p.K70N	NM_001039783.1	NP_001034872.1	Q6F5E7	TR3N_HUMAN	thioredoxin reductase 3 neighbor	70										endometrium(1)|large_intestine(2)|skin(2)	5						ccctggAGATCTTCAGTAGTC	0.542000													14	21					9.31168e-06	1.05106e-05	0.001855	1	0
CCDC127	133957	broad.mit.edu	37	5	206057	206057	+	Silent	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr5:206057C>T	ENST00000296824.3	-	3	270	c.138G>A	c.(136-138)agG>agA	p.R46R		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	46										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			TCTGGGACTCCCTAGACCAAA	0.418000													16	35					0	0	0.004007	0	0
RYR2	6262	broad.mit.edu	37	1	237729890	237729890	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr1:237729890G>T	ENST00000366574.2	+	28	3555	c.3238G>T	c.(3238-3240)Ggc>Tgc	p.G1080C	RYR2_ENST00000542537.1_Missense_Mutation_p.G1064C|RYR2_ENST00000360064.6_Missense_Mutation_p.G1078C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1080	4 X approximate repeats.|B30.2/SPRY 2.				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)			AGTGTGCAGCGGCACCGGGGA	0.502000													20	35					4.96729e-08	5.88467e-08	0.008871	1	0
WIPF1	7456	broad.mit.edu	37	2	175436802	175436802	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr2:175436802G>A	ENST00000392547.2	-	5	830	c.731C>T	c.(730-732)tCg>tTg	p.S244L	WIPF1_ENST00000392546.2_Missense_Mutation_p.S244L|WIPF1_ENST00000409415.3_Missense_Mutation_p.S244L|WIPF1_ENST00000359761.3_Missense_Mutation_p.S244L|WIPF1_ENST00000272746.5_Missense_Mutation_p.S244L|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.S244L|AC018890.6_ENST00000442996.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	244	Poly-Ser.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGAGAAGGGCGAGGAGGAGCT	0.672000													18	24					0	0	0.006122	0	0
ITGB2	3689	broad.mit.edu	37	21	46309270	46309270	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr21:46309270C>A	ENST00000397850.2	-	14	2250	c.1798G>T	c.(1798-1800)Gta>Tta	p.V600L	ITGB2_ENST00000397854.3_Missense_Mutation_p.V543L|ITGB2_ENST00000397852.1_Missense_Mutation_p.V600L|ITGB2_ENST00000355153.4_Missense_Mutation_p.V600L|ITGB2_ENST00000302347.5_Missense_Mutation_p.V600L|ITGB2_ENST00000397857.1_Missense_Mutation_p.V600L			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	600	Cysteine-rich tandem repeats.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CACTCGCATACGTTGCAGCGG	0.657000													9	20					3.86212e-05	4.28581e-05	0.008291	1	0
PRDX4	10549	broad.mit.edu	37	X	23693132	23693132	+	Missense_Mutation	SNP	A	A	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chrX:23693132A>C	ENST00000379341.4	+	3	510	c.385A>C	c.(385-387)Atc>Ctc	p.I129L	PRDX4_ENST00000495599.1_3'UTR|PRDX4_ENST00000379331.3_Missense_Mutation_p.I129L	NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN	peroxiredoxin 4	129	Thioredoxin.				cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity			lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						AACTGAAATTATCGCTTTTGG	0.338000													15	40					0	0	0.004007	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476387	140476387	+	Silent	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr5:140476387C>A	ENST00000194155.4	+	1	2161	c.2013C>A	c.(2011-2013)ccC>ccA	p.P671P		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		671	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCCCAGCCCTACCTGCTGC	0.687000													42	156					2.95478e-19	4.20058e-19	0.008740	1	0
IL1RAPL1	11141	broad.mit.edu	37	X	28807536	28807536	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chrX:28807536G>C	ENST00000378993.1	+	2	749	c.76G>C	c.(76-78)Ggc>Cgc	p.G26R	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.G26R	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	26	Ig-like C2-type 1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GACCAAAAGAGGCTCCGGTAA	0.398000													12	20					0	0	0.010729	0	0
DISP1	84976	broad.mit.edu	37	1	223179146	223179146	+	Silent	SNP	G	G	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr1:223179146G>C	ENST00000284476.6	+	8	4571	c.4407G>C	c.(4405-4407)ggG>ggC	p.G1469G		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1469					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ATTTAATGGGGGAGGCTGGTT	0.428000													16	37					0	0	0.004007	0	0
GABRA6	2559	broad.mit.edu	37	5	161116278	161116278	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr5:161116278C>A	ENST00000523217.1	+	5	677	c.435C>A	c.(433-435)gaC>gaA	p.D145E	GABRA6_ENST00000274545.5_Missense_Mutation_p.D155E|RP11-348M17.2_ENST00000521984.1_RNA	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	155					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCAATGCTGACTGTCCCATGA	0.418000										TCGA Ovarian(5;0.080)			16	52					2.32078e-09	2.89273e-09	0.003163	1	0
WBP11P1	441818	broad.mit.edu	37	18	30092359	30092359	+	RNA	SNP	C	C	G			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr18:30092359C>G	ENST00000567636.1	+	0	734					NR_003558.1																						TTCTATCCTTCTCTTCTTGGG	0.552000													11	23					0	0	0.010729	0	0
MON1B	22879	broad.mit.edu	37	16	77225468	77225468	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr16:77225468G>C	ENST00000248248.3	+	2	436	c.86G>C	c.(85-87)aGa>aCa	p.R29T	MON1B_ENST00000545553.1_Intron|MON1B_ENST00000320859.6_Missense_Mutation_p.R29T|MON1B_ENST00000439557.2_Missense_Mutation_p.R29T	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	29							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						GAGGAAGCTAGAGAAGGTGGA	0.622000													12	14					0	0	0.013537	0	0
SLC10A1	6554	broad.mit.edu	37	14	70253009	70253009	+	Silent	SNP	G	G	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr14:70253009G>A	ENST00000216540.4	-	2	505	c.372C>T	c.(370-372)acC>acT	p.T124T		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	124					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		AGGTGGAGCAGGTGGTCATCA	0.522000													16	13					0	0	0.004990	0	0
PAGE5	90737	broad.mit.edu	37	X	55247881	55247881	+	Silent	SNP	A	A	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chrX:55247881A>T	ENST00000289619.5	+	2	371	c.126A>T	c.(124-126)ccA>ccT	p.P42P	PAGE5_ENST00000374952.1_Silent_p.P22P|PAGE5_ENST00000374955.3_Silent_p.P22P	NM_130467.3	NP_569734.2	Q96GU1	GGEE1_HUMAN	P antigen family, member 5 (prostate associated)	42										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						CTTCCCAGCCAGTTGGACCTG	0.353000													8	35					0	0	0.010729	0	0
BCAP31	10134	broad.mit.edu	37	X	152968501	152968501	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chrX:152968501C>T	ENST00000458587.2	-	6	1120	c.691G>A	c.(691-693)Gac>Aac	p.D231N	BCAP31_ENST00000477175.1_5'UTR|BCAP31_ENST00000441714.1_Missense_Mutation_p.D164N|BCAP31_ENST00000345046.6_Missense_Mutation_p.D164N	NM_001139441.1|NM_001139457.2	NP_001132913.1|NP_001132929.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	164					cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane	receptor binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGCCTCCGTCAACAGCAGCT	0.597000													9	331					0	0	0.004482	0	0
GTF3C1	2975	broad.mit.edu	37	16	27556834	27556834	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr16:27556834T>A	ENST00000356183.4	-	2	247	c.232A>T	c.(232-234)Att>Ttt	p.I78F	GTF3C1_ENST00000561623.1_Missense_Mutation_p.I78F	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	78						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCCAAATCAATTTCTTCATAC	0.423000													13	23					0	0	0.013537	0	0
FER1L5	90342	broad.mit.edu	37	2	97361799	97361799	+	RNA	SNP	G	G	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr2:97361799G>C	ENST00000457909.1	+	0	3571							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CGCTGTCTGAGAAGAAGCACC	0.607000													8	25					0	0	0.004482	0	0
TMEM169	92691	broad.mit.edu	37	2	216964787	216964787	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr2:216964787C>T	ENST00000454545.1	+	4	742	c.416C>T	c.(415-417)tCa>tTa	p.S139L	TMEM169_ENST00000437356.2_Missense_Mutation_p.S139L|TMEM169_ENST00000295658.4_Missense_Mutation_p.S139L|TMEM169_ENST00000406027.2_Missense_Mutation_p.S139L	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	139						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAAGAGTCATCAAGGGAAACG	0.542000													18	55					0	0	0.007413	0	0
GRPR	2925	broad.mit.edu	37	X	16168471	16168471	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chrX:16168471G>T	ENST00000380289.2	+	2	855	c.457G>T	c.(457-459)Gcc>Tcc	p.A153S		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	153					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					GGCCTCTCATGCCCTGATGAA	0.498000													27	57					1.42536e-11	1.84664e-11	0.004656	1	0
ZC3H3	23144	broad.mit.edu	37	8	144621321	144621321	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr8:144621321C>G	ENST00000262577.5	-	2	247	c.216G>C	c.(214-216)aaG>aaC	p.K72N		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	72					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GGGAGTATTTCTTGCGCCACG	0.677000													17	140					0	0	0.004007	0	0
INPP4A	3631	broad.mit.edu	37	2	99172083	99172083	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr2:99172083A>T	ENST00000074304.5	+	17	2042	c.1649A>T	c.(1648-1650)cAg>cTg	p.Q550L	INPP4A_ENST00000545415.1_Missense_Mutation_p.Q550L|INPP4A_ENST00000523221.1_Missense_Mutation_p.Q550L|INPP4A_ENST00000409540.3_Missense_Mutation_p.Q550L|INPP4A_ENST00000409851.3_Missense_Mutation_p.Q545L|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.3_Missense_Mutation_p.Q550L	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	550					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						AAGCTGCTGCAGAAGGAGCGG	0.577000													5	59					0	0	0.001168	0	0
BCR	613	broad.mit.edu	37	22	23603711	23603711	+	Missense_Mutation	SNP	A	A	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr22:23603711A>C	ENST00000305877.8	+	4	2487	c.1736A>C	c.(1735-1737)gAc>gCc	p.D579A	BCR_ENST00000359540.3_Missense_Mutation_p.D579A	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	579	DH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CGGGTGGGCGACCTCTTCCAG	0.557000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								11	38					0	0	0.010729	0	0
UNC5D	137970	broad.mit.edu	37	8	35608118	35608118	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr8:35608118G>C	ENST00000287272.2	+	12	1767	c.1747G>C	c.(1747-1749)Gat>Cat	p.D583H	UNC5D_ENST00000420357.1_Missense_Mutation_p.D585H|UNC5D_ENST00000453357.2_Missense_Mutation_p.D647H|UNC5D_ENST00000404895.2_Missense_Mutation_p.D652H|UNC5D_ENST00000449677.1_Missense_Mutation_p.D228H|UNC5D_ENST00000416672.1_Missense_Mutation_p.D657H			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	652	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GTCAGTGGAAGATGAATCTAC	0.433000													22	53					0	0	0.014323	0	0
PARP4	143	broad.mit.edu	37	13	25026574	25026574	+	Missense_Mutation	SNP	G	G	A	rs143295364	byFrequency	TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr13:25026574G>A	ENST00000381989.3	-	24	3089	c.2984C>T	c.(2983-2985)cCg>cTg	p.P995L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	995	VWFA.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CCTGGTGTGCGGGCGGCTCCT	0.587000													26	116					0	0	0.007291	0	0
PCDH18	54510	broad.mit.edu	37	4	138452267	138452267	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr4:138452267C>G	ENST00000344876.4	-	1	1362	c.976G>C	c.(976-978)Gct>Cct	p.A326P	PCDH18_ENST00000412923.2_Missense_Mutation_p.A326P|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.A106P	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	326	Cadherin 3.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AAATCTTGAGCCTGAACATCA	0.333000													12	26					0	0	0.013537	0	0
TIAM1	7074	broad.mit.edu	37	21	32638333	32638333	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr21:32638333G>C	ENST00000286827.3	-	5	1427	c.956C>G	c.(955-957)aCa>aGa	p.T319R	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.T319R	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	319					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TACCTGAGTTGTTTTAGCTCT	0.388000													5	18					0	0	0.000602	0	0
ZNF831	128611	broad.mit.edu	37	20	57769142	57769142	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr20:57769142G>A	ENST00000371030.2	+	1	3068	c.3068G>A	c.(3067-3069)gGg>gAg	p.G1023E		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1023						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCACAGTTGGGGGGGGACAAG	0.687000													13	19					0	0	0.001855	0	0
LAMA1	284217	broad.mit.edu	37	18	6978242	6978242	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr18:6978242G>T	ENST00000389658.3	-	43	6236	c.6143C>A	c.(6142-6144)aCc>aAc	p.T2048N		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2048	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCGTAATGTGGTGTTGACCCT	0.612000													30	83					1.99505e-19	2.85162e-19	0.012213	1	0
BTD	686	broad.mit.edu	37	3	15686685	15686685	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr3:15686685G>T	ENST00000383778.4	+	4	1620	c.1262G>T	c.(1261-1263)gGg>gTg	p.G421V	BTD_ENST00000303498.5_Missense_Mutation_p.G441V|BTD_ENST00000437172.1_Missense_Mutation_p.G443V|BTD_ENST00000449107.1_Missense_Mutation_p.G443V			P43251	BTD_HUMAN	biotinidase	441					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						TATGCCCTGGGGGTCTTTGAT	0.527000													33	41					1.62565e-12	2.14847e-12	0.012213	1	0
ATOH1	474	broad.mit.edu	37	4	94750451	94750451	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr4:94750451G>A	ENST00000306011.3	+	1	410	c.374G>A	c.(373-375)cGg>cAg	p.R125Q		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	125					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		GTGAAAGTGCGGGAACAGCTG	0.692000													5	30					0	0	0.001168	0	0
FAT3	120114	broad.mit.edu	37	11	92507250	92507250	+	Silent	SNP	G	G	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr11:92507250G>C	ENST00000298047.6	+	6	4256	c.4239G>C	c.(4237-4239)ggG>ggC	p.G1413G	FAT3_ENST00000525166.1_Silent_p.G1263G|FAT3_ENST00000409404.2_Silent_p.G1413G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1413	Cadherin 13.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGGGTGTTGGGACAATTGTCA	0.418000										TCGA Ovarian(4;0.039)			16	40					0	0	0.004007	0	0
ATP1A3	478	broad.mit.edu	37	19	42489502	42489502	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr19:42489502A>G	ENST00000545399.1	-	7	872	c.719T>C	c.(718-720)tTg>tCg	p.L240S	ATP1A3_ENST00000602133.1_Missense_Mutation_p.L197S|ATP1A3_ENST00000302102.5_Missense_Mutation_p.L227S|ATP1A3_ENST00000543770.1_Missense_Mutation_p.L238S	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	227					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CCGAGTCTCCAAGGGGTTGTC	0.602000													37	48					0	0	0.004878	0	0
CCDC127	133957	broad.mit.edu	37	5	205920	205920	+	Missense_Mutation	SNP	A	A	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr5:205920A>C	ENST00000296824.3	-	3	407	c.275T>G	c.(274-276)cTc>cGc	p.L92R		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	92										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			TTCCTTTTCGAGTTCCAAGGA	0.498000													24	49					0	0	0.004656	0	0
MAP1A	4130	broad.mit.edu	37	15	43813642	43813642	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr15:43813642C>T	ENST00000382031.1	+	5	716	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	MAP1A_ENST00000300231.5_5'UTR|MAP1A_ENST00000399453.1_5'UTR			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	0						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCTGCACCTCCGGCTAAACCC	0.572000													26	41					0	0	0.006320	0	0
OR4K5	79317	broad.mit.edu	37	14	20389310	20389310	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr14:20389310C>A	ENST00000315915.4	+	1	570	c.545C>A	c.(544-546)cCt>cAt	p.P182H		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGATCTTCCTCGAGTCACC	0.423000													49	52					9.58827e-17	1.32027e-16	0.014410	1	0
GUCY1A2	2977	broad.mit.edu	37	11	106617361	106617361	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr11:106617361C>A	ENST00000282249.2	-	7	2234	c.1845G>T	c.(1843-1845)agG>agT	p.R615S	GUCY1A2_ENST00000526355.1_Intron|GUCY1A2_ENST00000347596.2_Intron	NM_001256424.1	NP_001243353.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	612	Guanylate cyclase.				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GGAGTTCACTCCTCTGGGGCT	0.403000													11	14					0.000978159	0.00105002	0.010729	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110457431	110457431	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr8:110457431A>G	ENST00000378402.5	+	38	5437	c.5333A>G	c.(5332-5334)gAc>gGc	p.D1778G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1778	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTTTTGGAGGACATTGCTGTT	0.408000										HNSCC(38;0.096)			25	78					0	0	0.003954	0	0
RAD51D	5892	broad.mit.edu	37	17	33443895	33443895	+	Silent	SNP	A	A	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr17:33443895A>T	ENST00000590016.1	-	3	505	c.306T>A	c.(304-306)acT>acA	p.T102T	RAD51D_ENST00000345365.6_Intron|RAD51D_ENST00000460118.2_Intron|RAD51L3-RFFL_ENST00000593039.1_Intron|RAD51D_ENST00000360276.3_Intron|RAD51D_ENST00000335858.7_Intron|RAD51D_ENST00000394589.4_Intron|RAD51D_ENST00000590380.1_Intron	NM_001142571.1	NP_001136043.1	O75771	RA51D_HUMAN	RAD51 paralog D	88					DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						tgctgaccgcagtgcctcgtt	0.498000								Direct reversal of damage					10	4					0	0	0.006214	0	0
TRIM37	4591	broad.mit.edu	37	17	57126725	57126725	+	Missense_Mutation	SNP	C	C	G			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr17:57126725C>G	ENST00000376149.3	-	15	1787	c.978G>C	c.(976-978)caG>caC	p.Q326H	TRIM37_ENST00000393065.2_Missense_Mutation_p.Q414H|TRIM37_ENST00000262294.7_Missense_Mutation_p.Q448H|TRIM37_ENST00000393066.3_Missense_Mutation_p.Q448H			O94972	TRI37_HUMAN	tripartite motif containing 37	448	MATH.					perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CTCTTGACTTCTGAGTTCGAG	0.418000									Mulibrey Nanism				21	29					0	0	0.012319	0	0
PCDH12	51294	broad.mit.edu	37	5	141335529	141335529	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr5:141335529C>T	ENST00000231484.3	-	1	3098	c.1888G>A	c.(1888-1890)Gca>Aca	p.A630T		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	630	Cadherin 6.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCATTTGCCCCCGAGTCT	0.577000													13	40					0	0	0.013537	0	0
PTPRT	11122	broad.mit.edu	37	20	40714437	40714437	+	Silent	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr20:40714437C>T	ENST00000373198.3	-	29	4204	c.3969G>A	c.(3967-3969)gtG>gtA	p.V1323V	PTPRT_ENST00000356100.2_Silent_p.V1310V|PTPRT_ENST00000373187.1_Silent_p.V1301V|PTPRT_ENST00000373190.1_Silent_p.V1300V|PTPRT_ENST00000373184.1_Silent_p.V1311V|PTPRT_ENST00000373201.1_Silent_p.V1291V|PTPRT_ENST00000373193.3_Silent_p.V1304V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1301	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGACGAACTCCACCTGGATGG	0.552000													29	43					0	0	0.010818	0	0
CIC	23152	broad.mit.edu	37	19	42798355	42798355	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr19:42798355C>T	ENST00000572681.2	+	19	7012	c.6944C>T	c.(6943-6945)tCg>tTg	p.S2315L	CIC_ENST00000575354.2_Missense_Mutation_p.S1409L|CIC_ENST00000160740.3_Missense_Mutation_p.S1407L			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GACCCCACCTCGCCCAAGCGC	0.622000			"""Mis, F, S"""		oligodendroglioma								4	66					0	0	0.009096	0	0
CPNE8	144402	broad.mit.edu	37	12	39170048	39170048	+	Missense_Mutation	SNP	A	A	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr12:39170048A>T	ENST00000331366.5	-	7	559	c.463T>A	c.(463-465)Tgt>Agt	p.C155S	CPNE8_ENST00000360449.3_Missense_Mutation_p.C143S	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	155	C2 2.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				ACCCTGCAACAGTTTAATTCC	0.249000													6	11					0	0	0.006214	0	0
MUC3A	4584	broad.mit.edu	37	7	100551306	100551306	+	Silent	SNP	A	A	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr7:100551306A>T	ENST00000319509.7	+	1	57	c.57A>T	c.(55-57)tcA>tcT	p.S19S						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TTACTACCTCAGAGACTGCGG	0.532000													32	41					0	0	0.012213	0	0
IL31RA	133396	broad.mit.edu	37	5	55204136	55204136	+	Silent	SNP	G	G	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr5:55204136G>A	ENST00000396834.1	+	13	1837	c.1341G>A	c.(1339-1341)gtG>gtA	p.V447V	IL31RA_ENST00000297015.3_Silent_p.V324V|IL31RA_ENST00000354961.4_Silent_p.V447V|IL31RA_ENST00000396836.2_Silent_p.V466V|IL31RA_ENST00000359040.5_Silent_p.V466V|IL31RA_ENST00000490985.1_Silent_p.V324V|IL31RA_ENST00000447346.2_Silent_p.V466V	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	434	Fibronectin type-III 5.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				ACATTGGCGTGAAGACGGTCA	0.468000													9	46					0	0	0.004482	0	0
CCDC80	151887	broad.mit.edu	37	3	112358289	112358289	+	Nonsense_Mutation	SNP	G	G	C			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr3:112358289G>C	ENST00000206423.3	-	2	1417	c.464C>G	c.(463-465)tCa>tGa	p.S155*	CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Nonsense_Mutation_p.S155*	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	155										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						ATGAGGGGCTGAGATGACCCA	0.562000													36	29					0	0	0.003271	0	0
CLN3	1201	broad.mit.edu	37	16	28493500	28493500	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr16:28493500C>A	ENST00000569430.1	-	15	1801	c.982G>T	c.(982-984)Gct>Tct	p.A328S	CLN3_ENST00000567963.1_Intron|CLN3_ENST00000535392.1_Missense_Mutation_p.A250S|CLN3_ENST00000357857.9_Missense_Mutation_p.A274S|CLN3_ENST00000395653.4_Missense_Mutation_p.A228S|CLN3_ENST00000565316.1_Missense_Mutation_p.A311S|CLN3_ENST00000357076.5_Missense_Mutation_p.A218S|CLN3_ENST00000355477.5_Missense_Mutation_p.A280S|CLN3_ENST00000354630.5_Missense_Mutation_p.A311S|CLN3_ENST00000360019.2_Missense_Mutation_p.A328S|CLN3_ENST00000357806.7_Missense_Mutation_p.A229S|CLN3_ENST00000333496.9_Missense_Mutation_p.A304S|CLN3_ENST00000359984.7_Missense_Mutation_p.A328S|CLN3_ENST00000568224.1_Missense_Mutation_p.A250S			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	328					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						AAGACGCCAGCCTGGTACAGC	0.657000													9	26					1.12685e-05	1.2665e-05	0.004482	1	0
MALAT1	378938	broad.mit.edu	37	11	65271985	65271985	+	RNA	SNP	C	C	T			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr11:65271985C>T	ENST00000534336.1	+	0	6753					NR_002819.2																						GTGATAAAGGCTGAGTGTTGA	0.368000													13	16					0	0	0.013537	0	0
DAP3	7818	broad.mit.edu	37	1	155698856	155698856	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr1:155698856delC	ENST00000368336.5	+	8	751	c.627delC	c.(625-627)gtfs	p.V209fs	DAP3_ENST00000471214.1_3'UTR|DAP3_ENST00000421487.2_Frame_Shift_Del_p.V175fs|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000343043.3_Frame_Shift_Del_p.V209fs|DAP3_ENST00000535183.1_Frame_Shift_Del_p.V168fs	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	209					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AGAAGTATGTCTGGAATAAGA	0.378													11	95	---	---	---	---					
NEB	4703	broad.mit.edu	37	2	152552143	152552143	+	Frame_Shift_Del	DEL	A	A	-			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr2:152552143delA	ENST00000397345.3	-	18	1825	c.1623delT	c.(1621-1623)ccfs	p.P541fs	NEB_ENST00000172853.10_Frame_Shift_Del_p.P541fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.P541fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.P541fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.P541fs|NEB_ENST00000427231.2_Frame_Shift_Del_p.P541fs	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	541					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAGGAGTATCAGGGGGGATAT	0.388													21	28	---	---	---	---					
ATIC	471	broad.mit.edu	37	2	216213903	216213906	+	Frame_Shift_Del	DEL	ACTG	ACTG	-			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr2:216213903_216213906delACTG	ENST00000435675.1	+	14	1978_1981	c.1587_1590delACTG	c.(1585-1590)aafs	p.KL529fs	ATIC_ENST00000540518.1_Frame_Shift_Del_p.KL471fs|ATIC_ENST00000236959.9_Frame_Shift_Del_p.KL530fs			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	530					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	GGGTTGAGAAACTGACTGAAGTTT	0.446			T	ALK	ALCL								18	51	---	---	---	---					
ERICH6-AS1	101928085	broad.mit.edu	37	3	150421899	150421900	+	RNA	INS	-	-	C	rs34009900	by1000genomes	TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr3:150421899_150421900insC	ENST00000475393.1	+	0	20				RP11-103G8.2_ENST00000471093.1_RNA																							TTCTGTCCCTGCTCTTCAGCGT	0.545													6	1	---	---	---	---					
RBM28	55131	broad.mit.edu	37	7	127961379	127961395	+	Frame_Shift_Del	DEL	TTTGTCATCTACAGCCT	TTTGTCATCTACAGCCT	-			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr7:127961379_127961395delTTTGTCATCTACAGCCT	ENST00000223073.1	-	14	1601_1617	c.1487_1503delAGGCTGTAGATGACAAA	c.(1486-1503)afs	p.KAVDDK496fs	RBM28_ENST00000481788.1_5'UTR|RBM28_ENST00000415472.2_Frame_Shift_Del_p.KAVDDK355fs	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	496	RRM 4.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TTCTGAGCTGTTTGTCATCTACAGCCTTTGGGAGATT	0.493													8	63	---	---	---	---					
MAP3K12	7786	broad.mit.edu	37	12	53877763	53877763	+	Frame_Shift_Del	DEL	A	A	-			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr12:53877763delA	ENST00000267079.2	-	9	1416	c.1191delT	c.(1189-1191)atfs	p.I397fs	MAP3K12_ENST00000547035.1_Frame_Shift_Del_p.I430fs|MAP3K12_ENST00000547488.1_Frame_Shift_Del_p.I430fs	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	397	Leucine-zipper 1.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CTTCTGACTTAATCTTTTCAA	0.522													63	41	---	---	---	---					
SPPL2A	84888	broad.mit.edu	37	15	51014345	51014346	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr15:51014345_51014346delTG	ENST00000261854.5	-	13	1576_1577	c.1302_1303delCA	c.(1300-1305)tatafs	p.YI434fs	SPPL2A_ENST00000559293.1_5'UTR	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	434						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		ACATAGTATATGTAAGAAGAAC	0.292													11	14	---	---	---	---					
NOVA2	4858	broad.mit.edu	37	19	46476609	46476610	+	Translation_Start_Site	INS	-	-	G			TCGA-97-7547-01A-11D-2036-08	TCGA-97-7547-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69939a0a-97ab-4458-b678-ef772e94daeb	6801074e-db2e-4393-bee6-ea22a2af97fc	g.chr19:46476609_46476610insG	ENST00000263257.5	-	0	194_195					NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2							nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		TCGGGCTCCATGGGGGGGGCCT	0.762													2	4	---	---	---	---					
