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
MAGEA4	4103	broad.mit.edu	37	X	151092682	151092682	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chrX:151092682C>A	ENST00000370335.1	+	3	813	c.546C>A	c.(544-546)tgC>tgA	p.C182*	MAGEA4_ENST00000276344.2_Nonsense_Mutation_p.C182*|MAGEA4_ENST00000393921.1_Nonsense_Mutation_p.C182*|MAGEA4_ENST00000370340.3_Nonsense_Mutation_p.C182*|MAGEA4_ENST00000370337.4_Nonsense_Mutation_p.C182*|MAGEA4_ENST00000360243.2_Nonsense_Mutation_p.C182*|MAGEA4_ENST00000393920.1_Nonsense_Mutation_p.C182*			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	182	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTGTCACCTGCCTGGGCCTTT	0.532000													64	89					7.05995e-25	1.61985e-24	0.003610	1	0
MKLN1	4289	broad.mit.edu	37	7	131113898	131113898	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr7:131113898A>T	ENST00000352689.6	+	9	994	c.954A>T	c.(952-954)gaA>gaT	p.E318D	MKLN1_ENST00000421797.2_Missense_Mutation_p.E226D	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	318					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					GAGACACTGAAAAAGAGGCAA	0.413000													15	25					0	0	0.002450	0	0
WDR37	22884	broad.mit.edu	37	10	1130413	1130413	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr10:1130413G>T	ENST00000358220.1	+	6	611	c.467G>T	c.(466-468)cGg>cTg	p.R156L	WDR37_ENST00000381329.1_Missense_Mutation_p.R156L|WDR37_ENST00000263150.4_Missense_Mutation_p.R156L			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	156										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		ATCGGCCACCGGGACGGCATC	0.597000													19	30					5.03518e-11	9.60297e-11	0.007413	1	0
NTRK3	4916	broad.mit.edu	37	15	88576139	88576139	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr15:88576139C>T	ENST00000394480.1	-	14	1855	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K	NTRK3_ENST00000357724.2_Missense_Mutation_p.E504K|NTRK3_ENST00000558676.1_Missense_Mutation_p.E504K|NTRK3_ENST00000360948.2_Missense_Mutation_p.E512K|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000557856.1_Missense_Mutation_p.E504K|NTRK3_ENST00000542733.2_Missense_Mutation_p.E414K|NTRK3_ENST00000355254.2_Missense_Mutation_p.E512K|NTRK3_ENST00000317501.3_Missense_Mutation_p.E512K|NTRK3_ENST00000540489.2_Missense_Mutation_p.E512K	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	512					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGGGGGTTCTCAATGACAGGG	0.602000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			6	24					0	0	0.001984	0	0
OR52E4	390081	broad.mit.edu	37	11	5905530	5905530	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr11:5905530C>A	ENST00000316987.2	+	1	30	c.8C>A	c.(7-9)tCt>tAt	p.S3Y		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAATGCCTTCTATCAATGAC	0.428000													44	70					8.86878e-18	1.89985e-17	0.003610	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33577084	33577084	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr5:33577084G>T	ENST00000504830.1	-	19	3382	c.3047C>A	c.(3046-3048)cCa>cAa	p.P1016Q	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P931Q	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1016	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P1016Q(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAGTGTTGGTGGGTTTTTTCC	0.537000										HNSCC(64;0.19)			43	66					1.96642e-18	4.25273e-18	0.006999	1	0
FBXL12	54850	broad.mit.edu	37	19	9921644	9921644	+	Silent	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr19:9921644C>A	ENST00000247977.4	-	3	1150	c.909G>T	c.(907-909)ctG>ctT	p.L303L	FBXL12_ENST00000585379.1_Silent_p.L250L|FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000591009.1_Silent_p.L250L|FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000589626.1_3'UTR	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	303							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						GCCCCTTACACAGGATCTTCT	0.597000													16	14					1.99824e-07	3.3206e-07	0.004990	1	0
LRSAM1	90678	broad.mit.edu	37	9	130257628	130257628	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr9:130257628G>T	ENST00000323301.4	+	21	2233	c.1629G>T	c.(1627-1629)agG>agT	p.R543S	LRSAM1_ENST00000373322.1_Missense_Mutation_p.R543S|LRSAM1_ENST00000373324.4_Missense_Mutation_p.R516S|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000300417.6_Missense_Mutation_p.R543S	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	543					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GTGAAACCAGGCAGGAAAATT	0.468000													12	19					2.80697e-09	5.09539e-09	0.000978	1	0
KIAA0922	23240	broad.mit.edu	37	4	154556719	154556719	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr4:154556719C>G	ENST00000409663.3	+	34	4602	c.4550C>G	c.(4549-4551)tCt>tGt	p.S1517C	KIAA0922_ENST00000409959.3_Missense_Mutation_p.S1518C|KIAA0922_ENST00000440693.1_Missense_Mutation_p.S1434C	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1517						integral to membrane		p.S1518F(1)|p.S1370F(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TTCATCAGCTCTCCGGTCAGT	0.532000													8	20					0	0	0.003080	0	0
TECRL	253017	broad.mit.edu	37	4	65180437	65180437	+	Silent	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr4:65180437G>T	ENST00000381210.3	-	5	590	c.480C>A	c.(478-480)ctC>ctA	p.L160L	TECRL_ENST00000507440.1_Silent_p.L160L|TECRL_ENST00000513125.1_5'UTR	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	160					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TCAAATAAAAGAGGAGGTATA	0.363000													15	24					4.7546e-09	8.46095e-09	0.004007	1	0
ATP13A4	84239	broad.mit.edu	37	3	193132463	193132463	+	Silent	SNP	G	G	C			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr3:193132463G>C	ENST00000342695.4	-	26	3241	c.2919C>G	c.(2917-2919)ctC>ctG	p.L973L	ATP13A4_ENST00000392443.3_Silent_p.L954L|ATP13A4_ENST00000400270.2_5'UTR	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	973					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AAATCACAGAGAGTAGCAGAG	0.463000													6	8					0	0	0.001168	0	0
GTF3C1	2975	broad.mit.edu	37	16	27499675	27499675	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr16:27499675C>T	ENST00000356183.4	-	23	3588	c.3573G>A	c.(3571-3573)tgG>tgA	p.W1191*	GTF3C1_ENST00000561623.1_Nonsense_Mutation_p.W1191*	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1191						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						ACTGCTCTTCCCAGCCAGCAC	0.562000													6	174					0	0	0.001168	0	0
NSUN2	54888	broad.mit.edu	37	5	6605502	6605502	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr5:6605502G>A	ENST00000264670.6	-	15	1932	c.1621C>T	c.(1621-1623)Cct>Tct	p.P541S	NSUN2_ENST00000539938.1_Missense_Mutation_p.P305S|NSUN2_ENST00000506139.1_Missense_Mutation_p.P506S	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	541						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						GGGAATGAAGGATCCAAAGCA	0.383000													7	69					0	0	0.003080	0	0
KRTAP9-2	83899	broad.mit.edu	37	17	39382920	39382920	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr17:39382920G>T	ENST00000377721.3	+	1	21	c.14G>T	c.(13-15)tGc>tTc	p.C5F	KRTAP9-2_ENST00000455970.2_Missense_Mutation_p.C5F	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	5						keratin filament	protein binding			large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			ACCCACTGTTGCTCCCCTTGC	0.582000													42	119					2.43139e-17	5.18391e-17	0.003610	1	0
TAS1R2	80834	broad.mit.edu	37	1	19180775	19180775	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:19180775G>T	ENST00000375371.3	-	3	1210	c.1189C>A	c.(1189-1191)Cat>Aat	p.H397N	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	397					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGCAGGGCATGGGCCACAGCA	0.607000													10	18					3.07112e-06	4.9225e-06	0.000978	1	0
POU3F4	5456	broad.mit.edu	37	X	82763435	82763435	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chrX:82763435C>A	ENST00000373200.2	+	1	167	c.103C>A	c.(103-105)Cag>Aag	p.Q35K	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	35					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						CCGCAACCCTCAGAAACTTCT	0.597000													9	16					3.09899e-07	5.0936e-07	0.004482	1	0
REG3G	130120	broad.mit.edu	37	2	79253909	79253909	+	Silent	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr2:79253909C>A	ENST00000272324.5	+	3	331	c.147C>A	c.(145-147)tcC>tcA	p.S49S	REG3G_ENST00000393897.2_Silent_p.S49S|REG3G_ENST00000409471.1_Silent_p.S49S	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	49	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTATGGCTCCCCCTGCTATG	0.522000													15	32					2.32078e-09	4.26421e-09	0.003163	1	0
INSC	387755	broad.mit.edu	37	11	15260597	15260597	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr11:15260597C>G	ENST00000379554.3	+	11	1557	c.1511C>G	c.(1510-1512)gCa>gGa	p.A504G	INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Missense_Mutation_p.A415G|INSC_ENST00000530161.1_Missense_Mutation_p.A457G|INSC_ENST00000379556.3_Missense_Mutation_p.A457G|INSC_ENST00000525218.1_Missense_Mutation_p.A415G|INSC_ENST00000528567.1_Missense_Mutation_p.A457G	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	504					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CCAGATGTGGCACGGGAGGCC	0.617000													13	20					0	0	0.001368	0	0
MRPL10	124995	broad.mit.edu	37	17	45901816	45901816	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr17:45901816T>C	ENST00000290208.7	-	5	1023	c.571A>G	c.(571-573)Att>Gtt	p.I191V	MRPL10_ENST00000414011.1_Missense_Mutation_p.I191V|MRPL10_ENST00000351111.2_Missense_Mutation_p.I181V			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	181					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GTGTCATCAATGCAGCCACCT	0.537000													23	16					0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179580343	179580343	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr2:179580343A>T	ENST00000589042.1	-	89	26022	c.25798T>A	c.(25798-25800)Ttc>Atc	p.F8600I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.F8283I|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.F7356I|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8283	Ig-like 68.						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)			GAGTCAACGAATGACATTCTG	0.463000													15	18					0	0	0.004007	0	0
P4HA2	8974	broad.mit.edu	37	5	131543483	131543483	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr5:131543483C>G	ENST00000401867.1	-	9	1566	c.998G>C	c.(997-999)tGg>tCg	p.W333S	P4HA2_ENST00000360568.3_Missense_Mutation_p.W333S|P4HA2_ENST00000379104.2_Missense_Mutation_p.W333S|P4HA2_ENST00000166534.4_Missense_Mutation_p.W333S|P4HA2_ENST00000379100.2_Missense_Mutation_p.W333S|P4HA2_ENST00000379086.1_Missense_Mutation_p.W333S			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	333						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CGGGCTGTCCCACTCGTCCTC	0.527000													43	66					0	0	0.002522	0	0
EDEM1	9695	broad.mit.edu	37	3	5244822	5244822	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr3:5244822A>G	ENST00000256497.4	+	5	1163	c.1030A>G	c.(1030-1032)Aca>Gca	p.T344A	EDEM1_ENST00000445686.1_Missense_Mutation_p.T149A	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	344					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		GAGCAATGATACAGGATTACT	0.537000													38	55					0	0	0.004878	0	0
HMGA2	8091	broad.mit.edu	37	12	66308660	66308660	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr12:66308660G>T	ENST00000536545.1	+	4	1221	c.410G>T	c.(409-411)tGg>tTg	p.W137L	HMGA2_ENST00000393577.3_Intron|HMGA2_ENST00000354636.3_Intron|HMGA2_ENST00000541363.1_Intron|HMGA2_ENST00000403681.2_Intron|AC090673.2_ENST00000601398.1_Intron			P52926	HMGA2_HUMAN	high mobility group AT-hook 2	0					cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		tcaccatgttggccaggctgg	0.527000			T	""" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"""	"""lipoma, leiomyoma, pleiomorphic salivary gland adenoma"""								7	11					8.12818e-05	0.00012454	0.001984	1	0
USH2A	7399	broad.mit.edu	37	1	216373289	216373289	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:216373289G>T	ENST00000366943.2	-	17	3877	c.3491C>A	c.(3490-3492)tCt>tAt	p.S1164Y	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.S1164Y|USH2A_ENST00000307340.3_Missense_Mutation_p.S1164Y			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1164	Fibronectin type-III 2.				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)		AAGTGTCACAGAGTCTGAGCC	0.448000										HNSCC(13;0.011)			102	50					2.07245e-51	5.29237e-51	0.003610	1	0
TMOD2	29767	broad.mit.edu	37	15	52065968	52065968	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr15:52065968C>T	ENST00000249700.4	+	4	564	c.343C>T	c.(343-345)Ctt>Ttt	p.L115F	TMOD2_ENST00000539962.2_Missense_Mutation_p.L71F|TMOD2_ENST00000435126.2_Missense_Mutation_p.L115F	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	115					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		AAAAGTGACCCTTGACCCAGA	0.423000													35	42					0	0	0.002445	0	0
SEC24B	10427	broad.mit.edu	37	4	110394165	110394165	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr4:110394165G>A	ENST00000265175.5	+	3	938	c.883G>A	c.(883-885)Gat>Aat	p.D295N	SEC24B_ENST00000504968.2_Missense_Mutation_p.D326N|SEC24B_ENST00000399100.2_Missense_Mutation_p.D295N	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	295					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTCAGTTGCAGATTCTTTATC	0.338000													7	52					0	0	0.003080	0	0
ZNF99	7652	broad.mit.edu	37	19	22952782	22952782	+	Translation_Start_Site	SNP	C	C	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr19:22952782C>G	ENST00000397104.3	-	1	2	c.3G>C	c.(1-3)atG>atC	p.M1I	ZNF99_ENST00000596209.1_Intron					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACCAAAAAGACATGTTGAGTT	0.274000													7	16					0	0	0.003080	0	0
NLRP4	147945	broad.mit.edu	37	19	56373374	56373374	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr19:56373374T>G	ENST00000301295.6	+	5	2457	c.2035T>G	c.(2035-2037)Ttt>Gtt	p.F679V	NLRP4_ENST00000346986.5_Missense_Mutation_p.F679V|NLRP4_ENST00000587891.1_Missense_Mutation_p.F604V	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	679							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TAACGTTTCCTTTTCTGGCCA	0.428000													23	45					0	0	0.003954	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													3	37					0	0	0.004672	0	0
TEX13B	56156	broad.mit.edu	37	X	107224606	107224606	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chrX:107224606G>T	ENST00000302917.1	-	3	735	c.643C>A	c.(643-645)Cag>Aag	p.Q215K		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	215										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CCCAGCCCCTGCAAGACCTCT	0.597000													51	152					6.08268e-21	1.34116e-20	0.003610	1	0
TBC1D25	4943	broad.mit.edu	37	X	48418002	48418002	+	Splice_Site	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chrX:48418002G>T	ENST00000376771.4	+	6	1047	c.705_splice	c.e6-1	p.V236_splice	TBC1D25_ENST00000481090.1_3'UTR|TBC1D25_ENST00000427713.1_3'UTR|TBC1D25_ENST00000537536.1_5'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	236	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CCCTGGGCAGGTGGTGTGGCG	0.567000													11	15					0.000978159	0.00145437	0.000978	1	0
RIBC1	158787	broad.mit.edu	37	X	53457342	53457342	+	Splice_Site	SNP	A	A	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chrX:53457342A>G	ENST00000375327.3	+	7	816		c.e7-1		RIBC1_ENST00000414955.2_Splice_Site	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1											lung(2)	2						GGGCTCCACCAGGCAGCTGTG	0.587000													12	10					0	0	0.001368	0	0
TENM4	26011	broad.mit.edu	37	11	78440614	78440614	+	Silent	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr11:78440614G>A	ENST00000278550.7	-	22	3675	c.3213C>T	c.(3211-3213)taC>taT	p.Y1071Y		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GGACAGATTTGTAGCCAGGGG	0.567000													22	25					0	0	0.001882	0	0
TPP2	7174	broad.mit.edu	37	13	103292686	103292686	+	Silent	SNP	A	A	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr13:103292686A>T	ENST00000376052.3	+	16	1996	c.1980A>T	c.(1978-1980)cgA>cgT	p.R660R	TPP2_ENST00000376065.4_Silent_p.R660R			P29144	TPP2_HUMAN	tripeptidyl peptidase II	660					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTCAAATTCGAAGGCATTTTA	0.333000													6	12					0	0	0.004482	0	0
MTOR	2475	broad.mit.edu	37	1	11300433	11300433	+	Silent	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:11300433C>A	ENST00000361445.4	-	11	1789	c.1713G>T	c.(1711-1713)acG>acT	p.T571T		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	571					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CAGGGAGGGTCGTGAGGCCAG	0.577000													20	37					2.94398e-08	5.00256e-08	0.007413	1	0
C16orf11	146325	broad.mit.edu	37	16	613534	613534	+	Silent	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr16:613534C>T	ENST00000409413.3	+	2	519	c.240C>T	c.(238-240)tcC>tcT	p.S80S		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	80										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						GCCGTGGCTCCACCACGCCTA	0.687000													4	12					0	0	0.000248	0	0
ZP4	57829	broad.mit.edu	37	1	238048735	238048735	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:238048735G>T	ENST00000366570.4	-	8	1274	c.1116C>A	c.(1114-1116)agC>agA	p.S372R	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	372	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGGGGTCAGTGCTGGGTGTTG	0.532000													23	69					1.22574e-08	2.13913e-08	0.002299	1	0
OR6Y1	391112	broad.mit.edu	37	1	158516940	158516940	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:158516940C>A	ENST00000302617.3	-	1	955	c.956G>T	c.(955-957)gGa>gTa	p.G319V		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGCCCCATTTCCCTGGGGCCC	0.448000													23	89					2.89027e-11	5.5356e-11	0.002299	1	0
COL5A3	50509	broad.mit.edu	37	19	10107298	10107298	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr19:10107298A>G	ENST00000264828.3	-	12	1416	c.1331T>C	c.(1330-1332)aTg>aCg	p.M444T	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	444	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TACCGGCATCATGATCACAGT	0.627000													19	33					0	0	0.007413	0	0
TOR1A	1861	broad.mit.edu	37	9	132576287	132576287	+	Silent	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr9:132576287C>A	ENST00000351698.4	-	5	1011	c.963G>T	c.(961-963)acG>acT	p.T321T		NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	321					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				TGGTGAACACCGTTTTGCAGC	0.438000													20	27					1.56452e-12	3.06132e-12	0.007413	1	0
SYNRG	11276	broad.mit.edu	37	17	35930960	35930960	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr17:35930960C>T	ENST00000339208.6	-	10	1263	c.1123G>A	c.(1123-1125)Gat>Aat	p.D375N	SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000585472.1_Missense_Mutation_p.D296N|SYNRG_ENST00000502449.2_Missense_Mutation_p.D297N|SYNRG_ENST00000394378.2_Missense_Mutation_p.D297N|SYNRG_ENST00000345615.4_Missense_Mutation_p.D297N|SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000346661.4_Missense_Mutation_p.D375N	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	375	EH.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTTAAAGCATCAGGACTCATT	0.458000													12	103					0	0	0.002450	0	0
MYH1	4619	broad.mit.edu	37	17	10415802	10415802	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr17:10415802C>G	ENST00000226207.5	-	12	1164	c.1070G>C	c.(1069-1071)gGg>gCg	p.G357A	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	357	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CATCACAGCCCCTGTGAGCTT	0.453000													33	38					0	0	0.002096	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138920	126138920	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr12:126138920G>C	ENST00000299308.3	+	9	2909	c.2901G>C	c.(2899-2901)gaG>gaC	p.E967D	TMEM132B_ENST00000535886.1_Missense_Mutation_p.E479D	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	967						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CATCAGAGGAGTGCACAACCA	0.512000													16	19					0	0	0.004007	0	0
DPY19L1	23333	broad.mit.edu	37	7	35050942	35050942	+	Splice_Site	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr7:35050942C>A	ENST00000310974.4	-	5	595	c.451_splice	c.e5+1	p.G151_splice		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	151						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						AGAAACTTACCTTCACAGCTT	0.338000													12	23					3.27435e-08	5.5431e-08	0.002450	1	0
SLIT2	9353	broad.mit.edu	37	4	20487859	20487859	+	Silent	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr4:20487859G>T	ENST00000504154.1	+	7	828	c.576G>T	c.(574-576)gtG>gtT	p.V192V	SLIT2_ENST00000273739.5_Silent_p.V192V|SLIT2_ENST00000503837.1_Silent_p.V192V|SLIT2_ENST00000503823.1_Silent_p.V192V	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	192					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GACTTTCTGTGGCAAGTTTCA	0.274000													11	24					2.27111e-07	3.7465e-07	0.001368	1	0
CA10	56934	broad.mit.edu	37	17	49731063	49731063	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr17:49731063G>A	ENST00000451037.2	-	5	1440	c.500C>T	c.(499-501)aCg>aTg	p.T167M	CA10_ENST00000442502.2_Missense_Mutation_p.T167M|CA10_ENST00000340813.6_Missense_Mutation_p.T173M|CA10_ENST00000570565.1_Missense_Mutation_p.T92M|CA10_ENST00000285273.4_Missense_Mutation_p.T167M|CA10_ENST00000571918.1_5'UTR	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	167					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TGTGACATTCGTATATAGCTC	0.403000													10	14					0	0	0.008291	0	0
GPHB5	122876	broad.mit.edu	37	14	63784522	63784522	+	RNA	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr14:63784522G>A	ENST00000539258.1	-	0	98							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5							extracellular region	hormone activity			breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		CAGCCAGAAGGAGGAGGGCCA	0.577000													17	24					0	0	0.004990	0	0
POU3F4	5456	broad.mit.edu	37	X	82764250	82764250	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chrX:82764250G>T	ENST00000373200.2	+	1	982	c.918G>T	c.(916-918)caG>caT	p.Q306H		NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	306					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						CTGCCGCGCAGGAGATCTCCT	0.567000													13	7					1.5842e-08	2.72266e-08	0.001855	1	0
OR52R1	119695	broad.mit.edu	37	11	4825267	4825267	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr11:4825267G>T	ENST00000380382.1	-	1	580	c.581C>A	c.(580-582)tCt>tAt	p.S194Y	MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.S115Y|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGCACCCCAGACTCCACAGA	0.527000													38	40					7.61001e-30	1.82964e-29	0.005524	1	0
SEMA3C	10512	broad.mit.edu	37	7	80433566	80433566	+	Splice_Site	SNP	T	T	C			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr7:80433566T>C	ENST00000265361.3	-	8	1220		c.e8-2		SEMA3C_ENST00000544525.1_Splice_Site|SEMA3C_ENST00000536800.1_Splice_Site|SEMA3C_ENST00000419255.2_Splice_Site	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C						immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACATAGGTTCTAGAAAAAAAG	0.373000													10	16					0	0	0.008291	0	0
GPSM2	29899	broad.mit.edu	37	1	109441561	109441561	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:109441561C>T	ENST00000406462.1	+	8	1515	c.742C>T	c.(742-744)Ctt>Ttt	p.L248F	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Missense_Mutation_p.L248F			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	248					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		ATATAGCAACCTTGGAAATGC	0.299000													15	19					0	0	0.002450	0	0
CSMD1	64478	broad.mit.edu	37	8	3000123	3000123	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr8:3000123G>T	ENST00000520002.1	-	42	6663	c.6108C>A	c.(6106-6108)taC>taA	p.Y2036*	CSMD1_ENST00000602557.1_Nonsense_Mutation_p.Y2036*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.Y2036*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.Y2035*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Y2035*|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.Y2036*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.Y2035*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2036	CUB 12.					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)		GGCTGGTGTGGTAAGGTCCAT	0.438000													67	48					5.10652e-33	1.25443e-32	0.003610	1	0
CCBE1	147372	broad.mit.edu	37	18	57122083	57122083	+	Splice_Site	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr18:57122083C>A	ENST00000439986.4	-	6	691	c.654_splice	c.e6+1	p.K218_splice	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	218					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CGGCACGTACCTTTTGCTTCA	0.507000													22	23					1.50039e-11	2.89819e-11	0.001882	1	0
RAB8B	51762	broad.mit.edu	37	15	63481946	63481946	+	Splice_Site	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr15:63481946C>T	ENST00000321437.4	+	1	279	c.124_splice	c.e1+1	p.I41_splice	RAB8B_ENST00000448330.2_Splice_Site_p.I41_splice	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	41					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						TCTCCACCATCGGTGAGGGAG	0.667000													5	20					0	0	0.001168	0	0
NCAN	1463	broad.mit.edu	37	19	19356128	19356128	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr19:19356128G>A	ENST00000252575.5	+	13	3542	c.3499G>A	c.(3499-3501)Gag>Aag	p.E1167K	NCAN_ENST00000538881.1_Missense_Mutation_p.E618K	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1167	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GCAGCAATTTGAGAACTGGCG	0.607000													17	18					0	0	0.006122	0	0
COL17A1	1308	broad.mit.edu	37	10	105792028	105792028	+	Silent	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr10:105792028G>T	ENST00000353479.5	-	56	4749	c.4459C>A	c.(4459-4461)Cgg>Agg	p.R1487R	COL17A1_ENST00000369733.3_Silent_p.R1405R	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1487	Nonhelical region (NC1).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CTCCTTCTCCGCCCAGCATAG	0.498000													15	18					7.93312e-07	1.2945e-06	0.002450	1	0
NTRK3	4916	broad.mit.edu	37	15	88726685	88726685	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr15:88726685G>T	ENST00000394480.1	-	5	680	c.359C>A	c.(358-360)cCc>cAc	p.P120H	NTRK3_ENST00000357724.2_Missense_Mutation_p.P120H|NTRK3_ENST00000558676.1_Missense_Mutation_p.P120H|NTRK3_ENST00000360948.2_Missense_Mutation_p.P120H|NTRK3_ENST00000557856.1_Missense_Mutation_p.P120H|NTRK3_ENST00000542733.2_Missense_Mutation_p.P22H|NTRK3_ENST00000355254.2_Missense_Mutation_p.P120H|NTRK3_ENST00000317501.3_Missense_Mutation_p.P120H|NTRK3_ENST00000540489.2_Missense_Mutation_p.P120H	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	120					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAAGGCTCTGGGCTGAATGCT	0.537000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			43	51					5.73435e-26	1.33604e-25	0.003610	1	0
CHL1	10752	broad.mit.edu	37	3	432804	432804	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr3:432804C>T	ENST00000256509.2	+	22	3395	c.2753C>T	c.(2752-2754)cCt>cTt	p.P918L	CHL1_ENST00000397491.2_Missense_Mutation_p.P902L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	902	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GGAGCTGGTCCTGAAAGTGAG	0.383000													19	27					0	0	0.008871	0	0
TNXB	7148	broad.mit.edu	37	6	32036264	32036264	+	Silent	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr6:32036264G>A	ENST00000375244.3	-	17	6324	c.6123C>T	c.(6121-6123)acC>acT	p.T2041T	TNXB_ENST00000375247.2_Silent_p.T2041T			P22105	TENX_HUMAN	tenascin XB	2123					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCCGAGATGGTGACCCCTT	0.607000													28	26					0	0	0.006320	0	0
CTC1	80169	broad.mit.edu	37	17	8140817	8140817	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr17:8140817T>A	ENST00000315684.8	-	5	675	c.668A>T	c.(667-669)cAg>cTg	p.Q223L	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	223					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CAGGTTTCGCTGCACACCTCT	0.483000													13	14					0	0	0.003163	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266113	41266113	+	Missense_Mutation	SNP	C	C	T	rs121913416		TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr3:41266113C>T	ENST00000349496.5	+	3	390	c.110C>T	c.(109-111)tCt>tTt	p.S37F	CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37F|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37F|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37F|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30F	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	37			S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> C (in PTR, hepatoblastoma and ovarian cancer).|S -> F (in PTR).|S -> Y (in hepatocellular carcinoma).|SG -> W (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S37F(172)|p.S37C(141)|p.A5_A80del(53)|p.S37Y(31)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GGAATCCATTCTGGTGCCACT	0.498000	S37C(JHUEM2_ENDOMETRIUM)|S37C(SNU398_LIVER)|S37F(HUTU80_SMALL_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				14	19					0	0	0.001855	0	0
MBLAC2	153364	broad.mit.edu	37	5	89770012	89770012	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr5:89770012C>A	ENST00000316610.6	-	1	573	c.98G>T	c.(97-99)tGg>tTg	p.W33L	MBLAC2_ENST00000514906.1_Missense_Mutation_p.W33L	NM_203406.1	NP_981951.1	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	33							hydrolase activity|metal ion binding			kidney(1)|liver(1)|lung(3)	5						GCGCACCAGCCAGATGTTGGC	0.612000													3	9					0.004672	0.00683412	0.004672	1	0
HEATR1	55127	broad.mit.edu	37	1	236751262	236751262	+	Missense_Mutation	SNP	T	T	C	rs149485004	byFrequency	TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:236751262T>C	ENST00000366582.3	-	13	1726	c.1612A>G	c.(1612-1614)Ata>Gta	p.I538V	HEATR1_ENST00000366581.2_Missense_Mutation_p.I538V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	538					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AAAGCACTTATAGCCGACAAA	0.348000													37	18					0	0	0.005524	0	0
WDR72	256764	broad.mit.edu	37	15	53907849	53907849	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr15:53907849C>A	ENST00000396328.1	-	15	2793	c.2554G>T	c.(2554-2556)Gga>Tga	p.G852*	WDR72_ENST00000557913.1_Nonsense_Mutation_p.G849*|WDR72_ENST00000360509.5_Nonsense_Mutation_p.G852*|WDR72_ENST00000559418.1_Nonsense_Mutation_p.G862*	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	852										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTTATCATTCCACTATTGCAT	0.353000													21	35					4.35082e-09	7.80385e-09	0.001523	1	0
FEZF2	55079	broad.mit.edu	37	3	62358282	62358282	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr3:62358282G>T	ENST00000283268.3	-	2	556	c.262C>A	c.(262-264)Ctg>Atg	p.L88M	FEZF2_ENST00000475839.1_Missense_Mutation_p.L88M|FEZF2_ENST00000486811.1_Missense_Mutation_p.L88M	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	88					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		TAACTGAGCAGTGTCTTTGAC	0.716000													15	27					1.01871e-10	1.9266e-10	0.008871	1	0
RAD21	5885	broad.mit.edu	37	8	117874162	117874162	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr8:117874162C>G	ENST00000297338.2	-	4	579	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	98					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CGATTTTCCTCAGGCAGGTCA	0.388000													10	25					0	0	0.000978	0	0
ABCB1	5243	broad.mit.edu	37	7	87199522	87199522	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr7:87199522C>A	ENST00000265724.3	-	6	721	c.304G>T	c.(304-306)Ggg>Tgg	p.G102W	ABCB1_ENST00000543898.1_Missense_Mutation_p.G102W	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	102	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ATGAAGAACCCTGTATCATTG	0.308000													11	32					0.000978159	0.00145437	0.000978	1	0
TAF1L	138474	broad.mit.edu	37	9	32633465	32633465	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr9:32633465C>A	ENST00000242310.4	-	1	2202	c.2113G>T	c.(2113-2115)Gaa>Taa	p.E705*	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	705					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGTCCATTTTCCTCACTATAT	0.433000													31	54					1.62565e-12	3.16721e-12	0.002445	1	0
PTGER3	5733	broad.mit.edu	37	1	71512943	71512943	+	Silent	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:71512943G>A	ENST00000370924.4	-	1	548	c.318C>T	c.(316-318)acC>acT	p.T106T	PTGER3_ENST00000351052.5_Silent_p.T106T|PTGER3_ENST00000356595.4_Silent_p.T106T|PTGER3_ENST00000354608.5_Silent_p.T106T|PTGER3_ENST00000370931.3_Silent_p.T106T|PTGER3_ENST00000306666.5_Silent_p.T106T|PTGER3_ENST00000460330.1_Silent_p.T106T|PTGER3_ENST00000370932.2_Silent_p.T106T|PTGER3_ENST00000414819.1_Silent_p.T106T	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	106					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	CGACCGGGGTGGTGAGAAGCT	0.642000													3	5					0	0	0.004672	0	0
ADAM19	8728	broad.mit.edu	37	5	156946889	156946889	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr5:156946889C>A	ENST00000257527.4	-	6	636	c.558G>T	c.(556-558)tgG>tgT	p.W186C	ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Missense_Mutation_p.W188C|ADAM19_ENST00000517905.1_Missense_Mutation_p.W186C	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	186					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACTGAAGAGCCCAGTCCCTGG	0.552000													61	73					7.73544e-29	1.84996e-28	0.003610	1	0
MOSPD2	158747	broad.mit.edu	37	X	14915307	14915307	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chrX:14915307G>T	ENST00000380492.3	+	5	512	c.424G>T	c.(424-426)Ggg>Tgg	p.G142W	MOSPD2_ENST00000482354.1_Missense_Mutation_p.G142W|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	142	CRAL-TRIO.					integral to membrane	structural molecule activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					GAGGGAAAATGGGAAACCTGT	0.378000													34	55					6.97489e-18	1.50126e-17	0.004878	1	0
POLR3B	55703	broad.mit.edu	37	12	106772119	106772119	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr12:106772119G>A	ENST00000228347.4	+	8	793	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	POLR3B_ENST00000539066.1_Missense_Mutation_p.V133M	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	191					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CAGGATCATCGTGGAGGCTGA	0.408000													7	93					0	0	0.001984	0	0
DDRGK1	65992	broad.mit.edu	37	20	3175940	3175940	+	Silent	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr20:3175940C>T	ENST00000354488.3	-	5	627	c.570G>A	c.(568-570)ctG>ctA	p.L190L	DDRGK1_ENST00000380201.2_Silent_p.L190L	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	190						endoplasmic reticulum	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						CCTTCAGTTTCAGGTACTCCT	0.617000													9	59					0	0	0.004482	0	0
CACTIN	58509	broad.mit.edu	37	19	3611989	3611989	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr19:3611989G>A	ENST00000429344.2	-	10	2261	c.2209C>T	c.(2209-2211)Cgc>Tgc	p.R737C	CACTIN_ENST00000248420.5_Missense_Mutation_p.R737C|CACTIN_ENST00000221899.3_Missense_Mutation_p.R669C|CACTIN-AS1_ENST00000592274.1_RNA	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit																		AACTGGCAGCGGAAGCCGTGG	0.632000													5	55					0	0	0.000602	0	0
ITGA8	8516	broad.mit.edu	37	10	15760819	15760819	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr10:15760819G>T	ENST00000378076.3	-	2	642	c.289C>A	c.(289-291)Cct>Act	p.P97T		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	97					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.P97T(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GCGGGCCAAGGACAGTAATAG	0.572000													28	45					3.80469e-20	8.30783e-20	0.001786	1	0
P4HTM	54681	broad.mit.edu	37	3	49043295	49043295	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr3:49043295G>A	ENST00000343546.4	+	7	1710	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K	P4HTM_ENST00000383729.4_Missense_Mutation_p.E387K	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	387	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	AACCTACGATGAAATGGTAAG	0.498000													10	124					0	0	0.000978	0	0
WDR72	256764	broad.mit.edu	37	15	53907848	53907848	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr15:53907848C>A	ENST00000396328.1	-	15	2794	c.2555G>T	c.(2554-2556)gGa>gTa	p.G852V	WDR72_ENST00000557913.1_Missense_Mutation_p.G849V|WDR72_ENST00000360509.5_Missense_Mutation_p.G852V|WDR72_ENST00000559418.1_Missense_Mutation_p.G862V	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	852										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTTTATCATTCCACTATTGCA	0.348000													21	35					4.35082e-09	7.80385e-09	0.001523	1	0
TRBC2	28638	broad.mit.edu	37	7	142499083	142499083	+	RNA	SNP	C	C	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr7:142499083C>G	ENST00000466254.1	+	0	359																											TCACCCAGATCGTCAGCGCCG	0.597000													14	97					0	0	0.002450	0	0
GADD45G	10912	broad.mit.edu	37	9	92220729	92220729	+	Silent	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr9:92220729G>T	ENST00000252506.6	+	3	412	c.303G>T	c.(301-303)ctG>ctT	p.L101L	GADD45G_ENST00000375769.1_Silent_p.L83L|GADD45G_ENST00000494726.1_3'UTR	NM_006705.3	NP_006696.1	O95257	GA45G_HUMAN	growth arrest and DNA-damage-inducible, gamma	101					activation of MAPKKK activity|apoptosis|cell differentiation|DNA repair|multicellular organismal development		protein binding			lung(2)	2						TGCAGCGGCTGGCGGCTATCG	0.652000													10	12					0.00621372	0.00903087	0.006214	1	0
CACNA1E	777	broad.mit.edu	37	1	181721322	181721322	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:181721322G>T	ENST00000526775.1	+	26	3883	c.3718G>T	c.(3718-3720)Gtg>Ttg	p.V1240L	CACNA1E_ENST00000367567.4_Missense_Mutation_p.V866L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1259L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1210L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1191L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1259L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1240L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1259					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GTCTCTGCGGGTGCTCCGAGT	0.498000													22	88					9.80776e-20	2.1313e-19	0.006320	1	0
MMP11	4320	broad.mit.edu	37	22	24122785	24122785	+	Missense_Mutation	SNP	G	G	T	rs142391582	by1000genomes	TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr22:24122785G>T	ENST00000215743.3	+	4	551	c.499G>T	c.(499-501)Gac>Tac	p.D167Y	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	167					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				GCATGGGGACGACCTGCCGTT	0.647000													7	22					8.12818e-05	0.00012454	0.001984	1	0
CHD7	55636	broad.mit.edu	37	8	61748737	61748737	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr8:61748737T>A	ENST00000423902.2	+	16	4363	c.3884T>A	c.(3883-3885)aTt>aAt	p.I1295N	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1295	Helicase C-terminal.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTAGTGCTGATTGACAAGCTG	0.473000													15	22					0	0	0.003163	0	0
PML	5371	broad.mit.edu	37	15	74328242	74328242	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr15:74328242G>A	ENST00000268059.6	+	8	2536	c.2440G>A	c.(2440-2442)Gaa>Aaa	p.E814K	PML_ENST00000569965.1_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000435786.2_3'UTR|PML_ENST00000395132.2_Intron|PML_ENST00000354026.6_Missense_Mutation_p.E766K|PML_ENST00000268058.3_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000563500.1_3'UTR	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	0					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CTGTGCCCCAGAAAGGCCCCC	0.622000			T	"""RARA, PAX5"""	"""APL, ALL"""								20	140					0	0	0.001523	0	0
CEP164	22897	broad.mit.edu	37	11	117253620	117253620	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr11:117253620G>T	ENST00000278935.3	+	14	1833	c.1686G>T	c.(1684-1686)aaG>aaT	p.K562N	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	562	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CTGAGGAGAAGGTGGCGGTCA	0.642000													13	14					5.50884e-06	8.76759e-06	0.001368	1	0
SOX1	6656	broad.mit.edu	37	13	112722025	112722025	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr13:112722025C>A	ENST00000330949.1	+	1	113	c.53C>A	c.(52-54)gCc>gAc	p.A18D		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	18					chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		GGCGCCCAGGCCCCCACGAAC	0.796000													5	4					1.23904e-05	1.9582e-05	0.000602	1	0
CLUH	23277	broad.mit.edu	37	17	2595924	2595924	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr17:2595924C>A	ENST00000570628.1	-	21	3367	c.3262G>T	c.(3262-3264)Gcc>Tcc	p.A1088S	CLUH_ENST00000575014.1_Missense_Mutation_p.A1021S|CLUH_ENST00000538975.1_Missense_Mutation_p.A1088S|CLUH_ENST00000435359.1_Missense_Mutation_p.A1088S					clustered mitochondria (cluA/CLU1) homolog																		AGGTAGCGGGCGCGGTACAGC	0.706000													10	11					6.40141e-05	9.90903e-05	0.000978	1	0
DDRGK1	65992	broad.mit.edu	37	20	3175889	3175889	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr20:3175889C>T	ENST00000354488.3	-	5	678	c.621G>A	c.(619-621)atG>atA	p.M207I	DDRGK1_ENST00000380201.2_Missense_Mutation_p.M207I	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	207						endoplasmic reticulum	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						GTTCCTCAGTCATGGTCTCTC	0.637000													12	70					0	0	0.001855	0	0
CCDC51	79714	broad.mit.edu	37	3	48474184	48474184	+	Silent	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr3:48474184C>T	ENST00000395694.2	-	4	955	c.870G>A	c.(868-870)ccG>ccA	p.P290P	CCDC51_ENST00000447018.1_Silent_p.P181P|CCDC51_ENST00000442740.1_Silent_p.P181P|CCDC51_ENST00000395696.1_Silent_p.P290P|CCDC51_ENST00000412398.2_Silent_p.P181P	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	290						integral to membrane				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGTCTCTGGTCGGGGGACTAC	0.562000													21	57					0	0	0.001882	0	0
EXO1	9156	broad.mit.edu	37	1	242013757	242013757	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:242013757C>G	ENST00000366548.3	+	4	623	c.30C>G	c.(28-30)atC>atG	p.I10M	EXO1_ENST00000348581.5_Missense_Mutation_p.I10M|EXO1_ENST00000493702.1_3'UTR|EXO1_ENST00000518483.1_Missense_Mutation_p.I10M	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	10	N-domain.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TACAATTTATCAAAGAAGCTT	0.388000								Editing and processing nucleases					5	86					0	0	0.001168	0	0
ZCCHC13	389874	broad.mit.edu	37	X	73524388	73524388	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chrX:73524388G>T	ENST00000339534.2	+	1	364	c.287G>T	c.(286-288)aGa>aTa	p.R96I		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	96							nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						ACCTGCGGCAGACTAGGACAT	0.517000													34	39					2.48696e-23	5.62052e-23	0.003271	1	0
XYLT1	64131	broad.mit.edu	37	16	17353202	17353202	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr16:17353202G>C	ENST00000261381.6	-	3	640	c.556C>G	c.(556-558)Ccg>Gcg	p.P186A		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	186					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTCTACTCGGTGGCTTCTTC	0.527000													43	62					0	0	0.002522	0	0
FAM179B	23116	broad.mit.edu	37	14	45501514	45501514	+	Silent	SNP	A	A	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr14:45501514A>G	ENST00000361462.2	+	11	3930	c.3747A>G	c.(3745-3747)ctA>ctG	p.L1249L	FAM179B_ENST00000382233.2_3'UTR|KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361577.3_Silent_p.L1249L			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1249							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TGTCAGAACTACGACCATTCT	0.398000													9	12					0	0	0.006214	0	0
DSCAML1	57453	broad.mit.edu	37	11	117387188	117387188	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr11:117387188C>A	ENST00000321322.6	-	8	1958	c.1957G>T	c.(1957-1959)Gtc>Ttc	p.V653F	DSCAML1_ENST00000527706.1_Missense_Mutation_p.V383F	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	593	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTACCTTTGACGGCTACGTGA	0.617000													9	19					6.40141e-05	9.90903e-05	0.000978	1	0
PNMA5	114824	broad.mit.edu	37	X	152159340	152159340	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chrX:152159340G>T	ENST00000439251.1	-	2	1241	c.803C>A	c.(802-804)cCc>cAc	p.P268H	PNMA5_ENST00000535214.1_Missense_Mutation_p.P268H|PNMA5_ENST00000361887.5_Missense_Mutation_p.P268H|PNMA5_ENST00000452693.1_Missense_Mutation_p.P268H	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	268					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCAGCAGGGGCTCTAAGCG	0.537000													21	46					1.22574e-08	2.13913e-08	0.002299	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113519846	113519846	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr7:113519846C>A	ENST00000284601.3	-	4	1369	c.1301G>T	c.(1300-1302)aGc>aTc	p.S434I		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	434					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GACTTCTTTGCTGCCAGTATG	0.423000													50	54					6.03219e-31	1.46589e-30	0.003610	1	0
KANSL1L	151050	broad.mit.edu	37	2	211018910	211018910	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr2:211018910T>A	ENST00000281772.9	-	2	660	c.397A>T	c.(397-399)Atc>Ttc	p.I133F	KANSL1L_ENST00000457374.1_Missense_Mutation_p.I133F|KANSL1L_ENST00000429908.2_5'UTR|KANSL1L_ENST00000452086.1_Missense_Mutation_p.I133F|KANSL1L_ENST00000418791.1_Missense_Mutation_p.I133F	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	133																	TCCTTTTTGATGAACTCTTCA	0.368000													19	24					0	0	0.007413	0	0
PLD3	23646	broad.mit.edu	37	19	40884020	40884020	+	Silent	SNP	T	T	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr19:40884020T>G	ENST00000409587.1	+	13	1810	c.1413T>G	c.(1411-1413)ccT>ccG	p.P471P	PLD3_ENST00000409735.4_Silent_p.P471P|PLD3_ENST00000409281.1_Silent_p.P471P|PLD3_ENST00000409419.1_Silent_p.P471P|PLD3_ENST00000356508.5_Silent_p.P471P			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	471					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GGGACTCCCCTTACAGCCATG	0.682000													58	68					0	0	0.003610	0	0
MYH7	4625	broad.mit.edu	37	14	23886369	23886369	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr14:23886369G>T	ENST00000355349.3	-	32	4674	c.4512C>A	c.(4510-4512)aaC>aaA	p.N1504K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1504					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CACCCTGCAGGTTTTTGTTCT	0.592000													62	84					2.94687e-45	7.44127e-45	0.003610	1	0
INTS4P1	285905	broad.mit.edu	37	7	64643383	64643383	+	RNA	SNP	A	A	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr7:64643383A>T	ENST00000587624.1	+	0	790																											GAGGCTCTTCATGAACTCTTA	0.383000													5	8					0	0	0.001168	0	0
MASP1	5648	broad.mit.edu	37	3	186954192	186954192	+	Silent	SNP	C	C	A	rs149695036		TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr3:186954192C>A	ENST00000296280.6	-	11	1692	c.1467G>T	c.(1465-1467)gcG>gcT	p.A489A	MASP1_ENST00000495249.1_Intron|MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Silent_p.A376A	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	482	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GGATCCAGGACGCAGAGAGCA	0.602000													25	31					1.96895e-08	3.37108e-08	0.002780	1	0
ZNF257	113835	broad.mit.edu	37	19	22272044	22272044	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr19:22272044C>T	ENST00000594947.1	+	4	1636	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGCCTTTAACCGGTCTTCACA	0.393000													8	23					0	0	0.006214	0	0
ABCC12	94160	broad.mit.edu	37	16	48122480	48122480	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr16:48122480C>T	ENST00000311303.3	-	24	3796	c.3451G>A	c.(3451-3453)Ggg>Agg	p.G1151R	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1151	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCAACAATCCCGACTGTCTGC	0.463000													7	48					0	0	0.004482	0	0
CEP350	9857	broad.mit.edu	37	1	180000550	180000550	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:180000550A>C	ENST00000367607.3	+	15	4064	c.3646A>C	c.(3646-3648)Agc>Cgc	p.S1216R		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1216	Ser-rich.					centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TGGGACCAGCAGCAAACTTTC	0.398000													6	28					0	0	0.001168	0	0
RTFDC1	51507	broad.mit.edu	37	20	55092258	55092258	+	Splice_Site	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr20:55092258G>T	ENST00000023939.4	+	8	849		c.e8+1		RTFDC1_ENST00000357348.5_Splice_Site|FAM209A_ENST00000481560.1_Splice_Site|GCNT7_ENST00000243913.4_Intron|RTFDC1_ENST00000395881.3_Splice_Site	NM_016407.3	NP_057491.2			replication termination factor 2 domain containing 1																		AAAAGCACAGGTGGGTCCTGT	0.542000													5	9					0.000602214	0.000907336	0.000602	1	0
SLC17A6	57084	broad.mit.edu	37	11	22399051	22399051	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr11:22399051G>T	ENST00000263160.3	+	12	1951	c.1514G>T	c.(1513-1515)tGg>tTg	p.W505L		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	505					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AAACAACCCTGGGCAGACCCG	0.403000													9	17					7.48243e-07	1.22538e-06	0.006214	1	0
AKT2	208	broad.mit.edu	37	19	40748459	40748459	+	Silent	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr19:40748459G>A	ENST00000392038.2	-	5	721	c.423C>T	c.(421-423)agC>agT	p.S141S	AKT2_ENST00000311278.6_Silent_p.S141S|AKT2_ENST00000579047.1_Silent_p.S79S|AKT2_ENST00000424901.1_Silent_p.S141S	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	141					insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			CCCGTGCCTTGCTGACCGCCA	0.647000			A		"""ovarian, pancreatic """								56	73					0	0	0.003610	0	0
MTA3	57504	broad.mit.edu	37	2	42909573	42909573	+	Silent	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr2:42909573C>T	ENST00000405592.1	+	10	1237	c.567C>T	c.(565-567)agC>agT	p.S189S	MTA3_ENST00000406911.1_Silent_p.S245S|MTA3_ENST00000406652.1_Silent_p.S189S|MTA3_ENST00000407270.3_Silent_p.S245S|MTA3_ENST00000405094.1_Silent_p.S245S			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	245	ELM2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						ATAGACACAGCTATGATTTGA	0.373000													5	10					0	0	0.000602	0	0
KPRP	448834	broad.mit.edu	37	1	152732360	152732360	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:152732360C>A	ENST00000368773.1	+	2	354	c.296C>A	c.(295-297)gCa>gAa	p.A99E	KPRP_ENST00000606109.1_Missense_Mutation_p.A99E	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	99	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCAGGCTGCATCCCAATCT	0.542000													74	245					9.53419e-23	2.14401e-22	0.003610	1	0
PVALB	5816	broad.mit.edu	37	22	37209698	37209698	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr22:37209698C>A	ENST00000216200.5	-	4	351	c.296G>T	c.(295-297)gGg>gTg	p.G99V	PVALB_ENST00000417718.2_Missense_Mutation_p.G99V|PVALB_ENST00000404171.1_Missense_Mutation_p.G67V	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	99	EF-hand 2.			Missing (in Ref. 1; CAA45134).			calcium ion binding			large_intestine(1)|lung(1)|skin(1)	3						ACCGTCAACCCCAATTTTGCC	0.512000													52	83					1.63038e-21	3.6302e-21	0.003610	1	0
IGSF21	84966	broad.mit.edu	37	1	18703331	18703331	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:18703331G>T	ENST00000251296.1	+	8	1522	c.1139G>T	c.(1138-1140)cGg>cTg	p.R380L	IGSF21_ENST00000473951.1_3'UTR	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	380	Ig-like 2.					extracellular region		p.R380Q(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ACGTGGACGCGGGTTGGGAGC	0.642000													17	14					6.94344e-10	1.29154e-09	0.006122	1	0
REG3G	130120	broad.mit.edu	37	2	79253884	79253884	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr2:79253884C>G	ENST00000272324.5	+	3	306	c.122C>G	c.(121-123)cCc>cGc	p.P41R	REG3G_ENST00000393897.2_Missense_Mutation_p.P41R|REG3G_ENST00000409471.1_Missense_Mutation_p.P41R	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	41					acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATCAGCTGTCCCAAAGGCTCC	0.532000													30	15					0	0	0.007291	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73316441	73316441	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr2:73316441C>T	ENST00000258098.6	-	2	674	c.434G>A	c.(433-435)tGg>tAg	p.W145*	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	145					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CAGCTTGTACCACCTGTGAGA	0.607000													27	150					0	0	0.004656	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553265	140553265	+	Silent	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr5:140553265C>T	ENST00000231137.3	+	1	1023	c.849C>T	c.(847-849)taC>taT	p.Y283Y		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		283	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Y283Y(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATTTTCTTACGCCACTGAAA	0.428000													32	35					0	0	0.002096	0	0
BAGE2	85319	broad.mit.edu	37	21	11039287	11039287	+	RNA	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr21:11039287G>T	ENST00000470054.1	-	0	916									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGTGATCTGGTGTGTAACGA	0.383000													15	250					1.3612e-06	2.21318e-06	0.003163	1	0
UBAP2L	9898	broad.mit.edu	37	1	154233427	154233427	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:154233427G>T	ENST00000428931.1	+	23	2805	c.2638G>T	c.(2638-2640)Gcc>Tcc	p.A880S	UBAP2L_ENST00000361546.2_Missense_Mutation_p.A880S|UBAP2L_ENST00000343815.6_Missense_Mutation_p.A880S|UBAP2L_ENST00000271877.7_Missense_Mutation_p.A891S	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	880					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CACAACCTTGGCCCAACCCCA	0.597000													22	83					3.28513e-13	6.51262e-13	0.003954	1	0
FARS2	10667	broad.mit.edu	37	6	5613521	5613521	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr6:5613521G>C	ENST00000324331.6	+	6	1521	c.1185G>C	c.(1183-1185)aaG>aaC	p.K395N	FARS2_ENST00000274680.4_Missense_Mutation_p.K395N			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	395	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	TGGTGGAAAAGGTTGATCTCA	0.378000													12	64					0	0	0.000978	0	0
AFF2	2334	broad.mit.edu	37	X	147743891	147743891	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chrX:147743891T>C	ENST00000370460.2	+	3	1122	c.643T>C	c.(643-645)Tct>Cct	p.S215P	AFF2_ENST00000370457.5_Missense_Mutation_p.S211P|AFF2_ENST00000342251.3_Missense_Mutation_p.S211P|AFF2_ENST00000370458.1_Missense_Mutation_p.S211P	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	215					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)					GTCAAACCCATCTGCAAAGGA	0.453000													9	222					0	0	0.004482	0	0
SLC25A18	83733	broad.mit.edu	37	22	18065397	18065397	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr22:18065397C>G	ENST00000327451.5	+	6	806	c.268C>G	c.(268-270)Cgg>Ggg	p.R90G	SLC25A18_ENST00000399813.1_Missense_Mutation_p.R90G|AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000497401.1_3'UTR	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	90						integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	CGACTTTTTCCGGCGGCTGCT	0.542000													5	2					0	0	0.001168	0	0
CREBBP	1387	broad.mit.edu	37	16	3860676	3860676	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr16:3860676C>A	ENST00000262367.5	-	3	1712	c.903G>T	c.(901-903)caG>caT	p.Q301H	CREBBP_ENST00000382070.3_Missense_Mutation_p.Q301H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	301	Interaction with SRCAP.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGACCATGCTCTGTTTGCTGG	0.493000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						43	54					1.76056e-25	4.08088e-25	0.002852	1	0
ADH4	127	broad.mit.edu	37	4	100048406	100048406	+	Silent	SNP	T	T	C			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr4:100048406T>C	ENST00000508393.1	-	8	1155	c.990A>G	c.(988-990)ccA>ccG	p.P330P	RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Silent_p.P330P|ADH4_ENST00000423445.1_Silent_p.P330P|ADH4_ENST00000265512.7_Silent_p.P311P			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	311					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	TTAGCTCCTCTGGAAAAATAG	0.408000													19	26					0	0	0.001523	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6898484	6898484	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr18:6898484G>T	ENST00000262227.3	+	17	5135	c.1924G>T	c.(1924-1926)Gtt>Ttt	p.V642F	ARHGAP28_ENST00000314319.3_Intron|ARHGAP28_ENST00000383472.4_Intron|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.V517F|ARHGAP28_ENST00000419673.2_Intron|ARHGAP28_ENST00000531294.1_Intron|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.V694F|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.V535F			B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	0					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				tggaaaatgggttAAAAAAGA	0.428000													24	40					7.87624e-14	1.60363e-13	0.002780	1	0
ZNF813	126017	broad.mit.edu	37	19	53989948	53989948	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr19:53989948C>G	ENST00000396403.4	+	3	206	c.78C>G	c.(76-78)gaC>gaG	p.D26E	ZNF813_ENST00000396421.4_Missense_Mutation_p.D26E	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	26	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AATGCCTGGACCCTGCTCAGA	0.478000													46	95					0	0	0.003610	0	0
PLXDC2	84898	broad.mit.edu	37	10	20508007	20508007	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr10:20508007G>A	ENST00000377252.3	+	12	2129	c.1288G>A	c.(1288-1290)Gca>Aca	p.A430T	PLXDC2_ENST00000377242.3_Missense_Mutation_p.A381T|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	430						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TACCAAGATAGCACTACATCT	0.284000													5	12					0	0	0.000602	0	0
OVCH1	341350	broad.mit.edu	37	12	29648354	29648354	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr12:29648354C>A	ENST00000318184.5	-	4	317	c.318G>T	c.(316-318)gaG>gaT	p.E106D		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	106	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AGAGGCTGTACTCCCCAGAAG	0.378000													19	32					2.94398e-08	5.00256e-08	0.007413	1	0
PTPRD	5789	broad.mit.edu	37	9	8518092	8518092	+	Silent	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr9:8518092G>A	ENST00000381196.4	-	18	1842	c.1299C>T	c.(1297-1299)acC>acT	p.T433T	PTPRD_ENST00000540109.1_Silent_p.T433T|PTPRD_ENST00000537002.1_Silent_p.T430T|PTPRD_ENST00000355233.5_Silent_p.T433T|PTPRD_ENST00000397611.3_Silent_p.T430T|PTPRD_ENST00000397617.3_Silent_p.T423T|PTPRD_ENST00000486161.1_Silent_p.T433T|PTPRD_ENST00000360074.4_Silent_p.T420T|PTPRD_ENST00000397606.3_Silent_p.T423T|PTPRD_ENST00000356435.5_Silent_p.T433T|PTPRD_ENST00000358503.5_Silent_p.T420T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	433	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTACCAAAATGGTGGTCGAAC	0.507000										TSP Lung(15;0.13)			42	72					0	0	0.008740	0	0
SLC6A9	6536	broad.mit.edu	37	1	44466566	44466566	+	Silent	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:44466566C>A	ENST00000372306.3	-	11	1636	c.1497G>T	c.(1495-1497)gcG>gcT	p.A499A	SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000360584.2_Intron|SLC6A9_ENST00000357730.2_Intron|SLC6A9_ENST00000372310.3_Intron			P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	657						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TCAGCAGACCCGCAGGACAGA	0.617000													17	15					3.52763e-06	5.63424e-06	0.004990	1	0
LAMC2	3918	broad.mit.edu	37	1	183212376	183212376	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:183212376G>T	ENST00000264144.4	+	23	3488	c.3423G>T	c.(3421-3423)atG>atT	p.M1141I		NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1141	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TGCGGCCCATGATGTCAGAGC	0.537000													56	60					5.99346e-17	1.26591e-16	0.003610	1	0
VWA3A	146177	broad.mit.edu	37	16	22161194	22161194	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr16:22161194T>C	ENST00000389397.4	+	30	3239	c.377T>C	c.(376-378)aTg>aCg	p.M126T	VWA3A_ENST00000389398.5_Missense_Mutation_p.M1024T|VWA3A_ENST00000563755.1_Missense_Mutation_p.M126T			A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1024						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CATGAGGCTATGCAATGGGTG	0.552000													19	26					0	0	0.006122	0	0
KRTAP9-4	85280	broad.mit.edu	37	17	39405986	39405986	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr17:39405986G>T	ENST00000334109.2	+	1	48	c.14G>T	c.(13-15)tGc>tTc	p.C5F		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	5						keratin filament				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			ACCCACTGTTGCTCCCCTTGC	0.577000													8	92					2.27111e-07	3.7465e-07	0.001368	1	0
PTGS1	5742	broad.mit.edu	37	9	125145816	125145816	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr9:125145816C>A	ENST00000362012.2	+	8	796	c.791C>A	c.(790-792)tCg>tAg	p.S264*	PTGS1_ENST00000223423.4_Nonsense_Mutation_p.S264*|PTGS1_ENST00000540753.1_Nonsense_Mutation_p.S239*|PTGS1_ENST00000373698.5_Nonsense_Mutation_p.S155*	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	264					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TACCCGCCCTCGGTAGAAGAG	0.647000													15	13					4.7546e-09	8.46095e-09	0.004007	1	0
FAM110C	642273	broad.mit.edu	37	2	45669	45669	+	Silent	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr2:45669C>A	ENST00000327669.4	-	1	716	c.717G>T	c.(715-717)gcG>gcT	p.A239A		NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	239						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		AGTCCGACCCCGCGGTGAAGT	0.697000													3	13					0.004672	0.00683412	0.004672	1	0
NLRP12	91662	broad.mit.edu	37	19	54299200	54299200	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr19:54299200T>A	ENST00000324134.6	-	9	3179	c.3011A>T	c.(3010-3012)tAc>tTc	p.Y1004F	NLRP12_ENST00000535162.1_Intron|NLRP12_ENST00000345770.5_Intron|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000391775.3_Missense_Mutation_p.Y947F|NLRP12_ENST00000351894.4_Missense_Mutation_p.Y892F|NLRP12_ENST00000391773.1_Missense_Mutation_p.Y1005F|NLRP12_ENST00000391772.1_Intron	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1004					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GTTGGTCAGGTAAAGGTCGGT	0.557000													20	19					0	0	0.008871	0	0
FOXR1	283150	broad.mit.edu	37	11	118851416	118851416	+	Silent	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr11:118851416C>A	ENST00000317011.3	+	5	1053	c.828C>A	c.(826-828)atC>atA	p.I276I		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	276					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		TAGAAAGTATCCAACAGTGCA	0.612000													14	14					1.5842e-08	2.72266e-08	0.001855	1	0
ZNF44	51710	broad.mit.edu	37	19	12383799	12383799	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr19:12383799T>C	ENST00000356109.5	-	5	1533	c.1415A>G	c.(1414-1416)aAg>aGg	p.K472R	ZNF44_ENST00000355684.5_Missense_Mutation_p.K424R	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CCCACATTGCTTGCATTCATA	0.423000													27	32					0	0	0.006320	0	0
UBIAD1	29914	broad.mit.edu	37	1	11333865	11333865	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:11333865G>T	ENST00000376810.5	+	1	603	c.277G>T	c.(277-279)Gct>Tct	p.A93S	UBIAD1_ENST00000376804.2_Missense_Mutation_p.A93S	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	93					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		GGCTGTCCTGGCTGTGCACGG	0.562000													42	56					3.54909e-21	7.86367e-21	0.002852	1	0
PCDHA4	56144	broad.mit.edu	37	5	140188067	140188067	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr5:140188067C>A	ENST00000530339.1	+	1	1295	c.1295C>A	c.(1294-1296)tCg>tAg	p.S432*	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Nonsense_Mutation_p.S432*|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Nonsense_Mutation_p.S432*	NM_018907.2	NP_061730.1												p.S432L(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGGGGGCTCGCCTTCGCTG	0.617000													59	64					4.6707e-30	1.12896e-29	0.003610	1	0
C1orf43	25912	broad.mit.edu	37	1	154192836	154192836	+	Silent	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:154192836C>T	ENST00000368521.5	-	1	246	c.48G>A	c.(46-48)gtG>gtA	p.V16V	C1orf43_ENST00000368519.1_Silent_p.V16V|C1orf43_ENST00000368518.1_Silent_p.V16V|C1orf43_ENST00000362076.4_Silent_p.V16V|UBAP2L_ENST00000343815.6_Intron|C1orf43_ENST00000350592.3_Silent_p.V16V|C1orf43_ENST00000368516.1_Silent_p.V16V	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	16						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					CGTAGGCCATCACCAGCACGA	0.602000													33	137					0	0	0.002836	0	0
CDH12	1010	broad.mit.edu	37	5	21783516	21783516	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr5:21783516G>T	ENST00000382254.1	-	11	2430	c.1344C>A	c.(1342-1344)gaC>gaA	p.D448E	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.D408E|CDH12_ENST00000504376.2_Missense_Mutation_p.D448E	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	448	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TGCTTTCTCTGTCTAGTAATT	0.368000										HNSCC(59;0.17)			32	75					2.61193e-14	5.34205e-14	0.001786	1	0
SOX3	6658	broad.mit.edu	37	X	139586865	139586865	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chrX:139586865C>A	ENST00000370536.2	-	1	360	c.361G>T	c.(361-363)Ggc>Tgc	p.G121C		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	121					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					CTGCTGCCGCCGCCCGAGTTC	0.726000													10	12					0.00621372	0.00903087	0.006214	1	0
COL15A1	1306	broad.mit.edu	37	9	101749650	101749650	+	Splice_Site	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr9:101749650G>A	ENST00000375001.3	+	4	1146	c.723_splice	c.e4+1	p.S241_splice		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	241	Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AAGAGTCCTCGGTGAGCTCCC	0.642000													48	57					0	0	0.003610	0	0
SLC2A9	56606	broad.mit.edu	37	4	9909889	9909889	+	Silent	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr4:9909889C>A	ENST00000506583.1	-	10	1213	c.996G>T	c.(994-996)ggG>ggT	p.G332G	SLC2A9_ENST00000264784.3_Silent_p.G361G|SLC2A9_ENST00000309065.3_Silent_p.G332G			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	361					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	p.G332G(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						TCTCGATGCCCCCTGTACTCA	0.483000													11	23					7.03913e-09	1.23801e-08	0.001368	1	0
DCLK3	85443	broad.mit.edu	37	3	36779795	36779795	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr3:36779795G>T	ENST00000416516.2	-	2	846	c.356C>A	c.(355-357)gCa>gAa	p.A119E		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	119						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CTCTCCCCTTGCGTGCCTCTC	0.572000													66	96					1.74474e-33	4.30942e-33	0.003610	1	0
DISP1	84976	broad.mit.edu	37	1	223178606	223178606	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:223178606G>T	ENST00000284476.6	+	8	4031	c.3867G>T	c.(3865-3867)caG>caT	p.Q1289H		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1289					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)		CTTGCCAGCAGATGGGGGACT	0.532000													63	173					4.09106e-26	9.58115e-26	0.003610	1	0
SLC4A11	83959	broad.mit.edu	37	20	3210254	3210254	+	Nonsense_Mutation	SNP	G	G	C			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr20:3210254G>C	ENST00000380059.3	-	14	1888	c.1787C>G	c.(1786-1788)tCa>tGa	p.S596*	SLC4A11_ENST00000539553.1_Nonsense_Mutation_p.S553*|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Nonsense_Mutation_p.S569*	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	569	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CGCCTGGCCTGAGTGTGTGGC	0.667000													11	19					0	0	0.000978	0	0
VAPB	9217	broad.mit.edu	37	20	57016113	57016113	+	Silent	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr20:57016113C>T	ENST00000475243.1	+	5	885	c.547C>T	c.(547-549)Cta>Tta	p.L183L	VAPB_ENST00000265619.2_3'UTR|VAPB_ENST00000395802.3_Intron	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	183					cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			AGTTCAGAGGCTACGGGAGGA	0.423000													3	9					0	0	0.004672	0	0
NLGN4X	57502	broad.mit.edu	37	X	5810985	5810985	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chrX:5810985G>A	ENST00000381095.3	-	6	2951	c.2324C>T	c.(2323-2325)aCg>aTg	p.T775M	NLGN4X_ENST00000275857.6_Missense_Mutation_p.T775M|NLGN4X_ENST00000381092.1_Missense_Mutation_p.T775M|NLGN4X_ENST00000538097.1_Missense_Mutation_p.T775M|NLGN4X_ENST00000381093.2_Missense_Mutation_p.T795M	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	775					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGTGTTTGGCGTCATAAGTGG	0.542000													6	96					0	0	0.001984	0	0
DUSP26	78986	broad.mit.edu	37	8	33454976	33454976	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr8:33454976T>C	ENST00000256261.4	-	2	575	c.58A>G	c.(58-60)Agt>Ggt	p.S20G	DUSP26_ENST00000523956.1_Missense_Mutation_p.S20G	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	20						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		CTTGAGCTACTCCGGGAGAAG	0.552000													36	23					0	0	0.006999	0	0
RBM45	129831	broad.mit.edu	37	2	178985109	178985109	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr2:178985109G>A	ENST00000286070.5	+	4	738	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	216					cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TTTGGGACATGAACCTAGAGT	0.318000													7	26					0	0	0.001984	0	0
PPAN-P2RY11	692312	broad.mit.edu	37	19	10224379	10224379	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr19:10224379C>T	ENST00000428358.1	+	13	1584	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	P2RY11_ENST00000321826.4_Silent_p.F30F|PPAN_ENST00000556468.1_Silent_p.F450F|PPAN-P2RY11_ENST00000393796.4_Silent_p.F450F|P2RY11_ENST00000471843.1_3'UTR	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		0					RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			AGGGGGACTTCCTGTGGCCCA	0.637000											OREG0025230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	18					0	0	0.007413	0	0
PEX19	5824	broad.mit.edu	37	1	160249886	160249886	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:160249886C>G	ENST00000368072.5	-	6	766	c.745G>C	c.(745-747)Gag>Cag	p.E249Q	PEX19_ENST00000440949.3_Missense_Mutation_p.E159Q|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000556710.1_Missense_Mutation_p.E102Q	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			peroxisomal biogenesis factor 19											cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCACCATCTCAAAACGAGCC	0.493000													8	277					0	0	0.003080	0	0
SCN3A	6328	broad.mit.edu	37	2	165947810	165947810	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr2:165947810G>T	ENST00000360093.3	-	28	5344	c.4853C>A	c.(4852-4854)aCc>aAc	p.T1618N	SCN3A_ENST00000409101.3_Missense_Mutation_p.T1569N|SCN3A_ENST00000283254.7_Missense_Mutation_p.T1618N|SCN3A_ENST00000540861.1_Missense_Mutation_p.T101N	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1618						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCGGAACAAGGTAGGGGACAC	0.443000													38	53					3.54561e-26	8.34695e-26	0.002222	1	0
TIAM1	7074	broad.mit.edu	37	21	32508251	32508251	+	Splice_Site	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr21:32508251C>A	ENST00000286827.3	-	24	4354	c.3883_splice	c.e24+1	p.V1295_splice	TIAM1_ENST00000541036.1_Splice_Site_p.V1235_splice	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1295	PH 2.				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						TGATACACACCGAATGCTGCC	0.448000													22	26					1.87028e-06	3.02999e-06	0.001882	1	0
SORCS3	22986	broad.mit.edu	37	10	107016584	107016584	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr10:107016584G>C	ENST00000369701.3	+	25	3572	c.3345G>C	c.(3343-3345)ttG>ttC	p.L1115F		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1115						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AAGCTCCATTGGTGGACTCCA	0.458000													13	16					0	0	0.001368	0	0
MUC4	4585	broad.mit.edu	37	3	195489086	195489086	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr3:195489086C>A	ENST00000463781.3	-	14	14843	c.14384G>T	c.(14383-14385)cGc>cTc	p.R4795L	MUC4_ENST00000475231.1_Missense_Mutation_p.R4743L|MUC4_ENST00000346145.4_Missense_Mutation_p.R559L|MUC4_ENST00000349607.4_Missense_Mutation_p.R508L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1552					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGCCGTTGCGGCTCAGGAG	0.697000													3	3					0.004672	0.00683412	0.004672	1	0
ZNF700	90592	broad.mit.edu	37	19	12061049	12061049	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr19:12061049G>A	ENST00000482090.1	+	3	2574	c.2156G>A	c.(2155-2157)tGt>tAt	p.C719Y	ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000254321.5_Missense_Mutation_p.C737Y			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	737					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TGTAAGGATTGTGGGAAAGCA	0.398000													11	19					0	0	0.001855	0	0
SPA17	53340	broad.mit.edu	37	11	124564341	124564341	+	Silent	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr11:124564341G>A	ENST00000532692.1	+	4	1876	c.455G>A	c.(454-456)tGa>tAa	p.*152*	SIAE_ENST00000525730.1_5'UTR|SPA17_ENST00000524614.1_Intron|SPA17_ENST00000227135.2_Silent_p.*152*			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	0					binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		GAAAACAAGTGAGGACACTGG	0.388000													13	60					0	0	0.001368	0	0
LRRC16A	55604	broad.mit.edu	37	6	25600552	25600552	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr6:25600552A>T	ENST00000329474.6	+	33	3498	c.3130A>T	c.(3130-3132)Aca>Tca	p.T1044S		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1044	Inhibits capping activity of CAPZA2 (By similarity).				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GAAATGGTCAACAAGAGGCTC	0.373000													31	64					0	0	0.003755	0	0
TAF1L	138474	broad.mit.edu	37	9	32633466	32633466	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr9:32633466C>A	ENST00000242310.4	-	1	2201	c.2112G>T	c.(2110-2112)gaG>gaT	p.E704D	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	704					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTCCATTTTCCTCACTATATT	0.433000													30	54					9.65021e-13	1.90476e-12	0.002096	1	0
PHACTR3	116154	broad.mit.edu	37	20	58348444	58348444	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr20:58348444C>A	ENST00000371015.1	+	6	1329	c.862C>A	c.(862-864)Ctt>Att	p.L288I	PHACTR3_ENST00000359926.3_Missense_Mutation_p.L285I|PHACTR3_ENST00000395639.4_Missense_Mutation_p.L177I|PHACTR3_ENST00000355648.4_Missense_Mutation_p.L247I|PHACTR3_ENST00000361300.4_Missense_Mutation_p.L177I|PHACTR3_ENST00000395636.2_Missense_Mutation_p.L247I|PHACTR3_ENST00000541461.1_Missense_Mutation_p.L247I	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	288						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CCACCGGCCTCTTCCCCCAAG	0.672000													20	18					4.96729e-08	8.34652e-08	0.008871	1	0
POU3F4	5456	broad.mit.edu	37	X	82764251	82764251	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chrX:82764251G>T	ENST00000373200.2	+	1	983	c.919G>T	c.(919-921)Gag>Tag	p.E307*		NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	307					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						TGCCGCGCAGGAGATCTCCTC	0.567000													13	7					1.5842e-08	2.72266e-08	0.001855	1	0
VPS37A	137492	broad.mit.edu	37	8	17132344	17132344	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr8:17132344A>T	ENST00000324849.4	+	5	1193	c.519A>T	c.(517-519)ttA>ttT	p.L173F	VPS37A_ENST00000324815.3_Missense_Mutation_p.I183F|VPS37A_ENST00000521829.1_Missense_Mutation_p.L148F	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	173					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		TCACTTCTTTATCTGTTGCTG	0.438000													22	6					0	0	0.002780	0	0
DENND1A	57706	broad.mit.edu	37	9	126144289	126144289	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr9:126144289G>A	ENST00000373624.2	-	22	2653	c.2452C>T	c.(2452-2454)Ccc>Tcc	p.P818S	DENND1A_ENST00000542603.1_Missense_Mutation_p.P603S|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.P829S	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	818	Pro-rich.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CCTGCAGGGGGGAAGCTGAAT	0.672000													5	13					0	0	0.000602	0	0
FBN3	84467	broad.mit.edu	37	19	8196582	8196582	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr19:8196582C>A	ENST00000600128.1	-	15	2260	c.1846G>T	c.(1846-1848)Gtg>Ttg	p.V616L	FBN3_ENST00000270509.2_Missense_Mutation_p.V616L|FBN3_ENST00000601739.1_Missense_Mutation_p.V616L			Q75N90	FBN3_HUMAN	fibrillin 3	616						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GTGCTGCGCACGTGGGTGTCC	0.677000													10	19					0.000673444	0.00101128	0.008291	1	0
TNIP1	10318	broad.mit.edu	37	5	150422465	150422465	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr5:150422465C>T	ENST00000389378.2	-	10	1582	c.994G>A	c.(994-996)Gag>Aag	p.E332K	TNIP1_ENST00000521591.1_Missense_Mutation_p.E332K|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000523338.1_Missense_Mutation_p.E332K|TNIP1_ENST00000524280.1_Missense_Mutation_p.E332K|TNIP1_ENST00000315050.7_Missense_Mutation_p.E332K|TNIP1_ENST00000518977.1_Missense_Mutation_p.E332K|TNIP1_ENST00000520931.1_Missense_Mutation_p.E279K|TNIP1_ENST00000522226.1_Missense_Mutation_p.E332K|TNIP1_ENST00000523200.1_Missense_Mutation_p.E332K	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	332	Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTTCTGCTCATACTGCTGC	0.567000													13	231					0	0	0.001855	0	0
OPN1SW	611	broad.mit.edu	37	7	128413907	128413907	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr7:128413907C>G	ENST00000249389.2	-	4	722	c.723G>C	c.(721-723)caG>caC	p.Q241H		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	241					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						GTTCAGCCTTCTGGGTCGTAG	0.547000													24	25					0	0	0.005443	0	0
GABRA4	2557	broad.mit.edu	37	4	46994843	46994843	+	Splice_Site	SNP	A	A	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr4:46994843A>T	ENST00000264318.3	-	2	1188		c.e2+1		GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4						gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AATCGTTCATACCCCCAAATC	0.483000													9	20					0	0	0.004482	0	0
KIAA1755	85449	broad.mit.edu	37	20	36841670	36841670	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr20:36841670G>T	ENST00000279024.4	-	14	3648	c.3377C>A	c.(3376-3378)cCa>cAa	p.P1126Q		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1126										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TTCCTGGGGTGGAGAGCCTGC	0.607000													6	17					3.59834e-05	5.62785e-05	0.001168	1	0
EFCAB11	90141	broad.mit.edu	37	14	90420982	90420982	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr14:90420982G>C	ENST00000316738.7	-	1	51	c.23C>G	c.(22-24)gCc>gGc	p.A8G	RP11-33N16.3_ENST00000555070.1_RNA|EFCAB11_ENST00000538485.2_Missense_Mutation_p.A8G|EFCAB11_ENST00000267544.9_5'UTR|EFCAB11_ENST00000556609.1_Intron	NM_145231.2	NP_660274.1	Q9BUY7	EFC11_HUMAN	EF-hand calcium binding domain 11	8							calcium ion binding			large_intestine(1)|lung(1)	2						CCGCGACCTGGCTCTGGCCTC	0.642000													3	3					0	0	0.000248	0	0
DUSP9	1852	broad.mit.edu	37	X	152914840	152914840	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chrX:152914840C>A	ENST00000342782.3	+	3	792	c.527C>A	c.(526-528)tCc>tAc	p.S176Y	DUSP9_ENST00000370167.4_Missense_Mutation_p.S176Y			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	176					inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GATGCGGAATCCGAGGCTGAC	0.701000													21	16					2.89027e-11	5.5356e-11	0.002299	1	0
CLCN1	1180	broad.mit.edu	37	7	143029565	143029565	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr7:143029565C>A	ENST00000343257.2	+	11	1307	c.1220C>A	c.(1219-1221)cCa>cAa	p.P407Q		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	407					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TTCACCTTCCCACCAGGAATG	0.483000													38	44					3.38236e-24	7.72134e-24	0.006999	1	0
DGKD	8527	broad.mit.edu	37	2	234372909	234372909	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr2:234372909G>T	ENST00000264057.2	+	27	3298	c.3286G>T	c.(3286-3288)Gca>Tca	p.A1096S	DGKD_ENST00000409813.3_Missense_Mutation_p.A1052S	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	1096					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CTGCCAGTCCGCAGAGCCCGG	0.647000													20	22					4.35082e-09	7.80385e-09	0.001523	1	0
KCNK6	9424	broad.mit.edu	37	19	38817582	38817582	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr19:38817582G>T	ENST00000263372.3	+	2	779	c.672G>T	c.(670-672)gaG>gaT	p.E224D		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	224						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	TGCCCGGGGAGGCCCCTGGCC	0.637000													43	58					1.02591e-13	2.07013e-13	0.002522	1	0
RBM10	8241	broad.mit.edu	37	X	47045157	47045157	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chrX:47045157G>T	ENST00000377604.3	+	21	3140	c.2398G>T	c.(2398-2400)Gag>Tag	p.E800*	RBM10_ENST00000345781.6_Nonsense_Mutation_p.E723*|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000329236.7_Nonsense_Mutation_p.E722*	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	800					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GTCAGAAAACGAGCTAGAAGC	0.572000													8	13					1.11149e-13	2.23286e-13	0.008291	1	0
EGFR	1956	broad.mit.edu	37	7	55266427	55266427	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr7:55266427T>A	ENST00000275493.2	+	23	2896	c.2719T>A	c.(2719-2721)Ttg>Atg	p.L907M	EGFR_ENST00000455089.1_Missense_Mutation_p.L862M|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.L854M	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	907	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGTTTGGGAGTTGATGACCTT	0.488000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			46	58					0	0	0.003610	0	0
CYP4X1	260293	broad.mit.edu	37	1	47489498	47489498	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:47489498C>G	ENST00000371901.3	+	1	259	c.9C>G	c.(7-9)ttC>ttG	p.F3L	CYP4X1_ENST00000538609.1_Intron	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	3						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CCATGGAATTCTCCTGGCTGG	0.697000													3	29					0	0	0.000248	0	0
CKAP2L	150468	broad.mit.edu	37	2	113513884	113513884	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr2:113513884T>G	ENST00000541405.1	-	4	1092	c.569A>C	c.(568-570)cAg>cCg	p.Q190P	CKAP2L_ENST00000302450.6_Missense_Mutation_p.Q355P			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	355						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GCTGGACTTCTGATCTTGCTT	0.423000													8	92					0	0	0.003080	0	0
BMP6	654	broad.mit.edu	37	6	7845379	7845379	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr6:7845379A>G	ENST00000283147.6	+	2	830	c.671A>G	c.(670-672)tAc>tGc	p.Y224C		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	224					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					ATAGTGGAGTACGACAAGGAG	0.483000													28	63					0	0	0.001786	0	0
ZNF367	195828	broad.mit.edu	37	9	99160522	99160522	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr9:99160522G>T	ENST00000375256.4	-	2	791	c.495C>A	c.(493-495)agC>agA	p.S165R		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	165					regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				AACGGATTCTGCTGGATGAAT	0.413000													40	73					4.67007e-22	1.04498e-21	0.008740	1	0
TIAM1	7074	broad.mit.edu	37	21	32638875	32638875	+	Silent	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr21:32638875G>A	ENST00000286827.3	-	5	885	c.414C>T	c.(412-414)gaC>gaT	p.D138D	TIAM1_ENST00000541036.1_Silent_p.D138D|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	138					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						AATATGTAGCGTCATCCCCGT	0.537000													21	43					0	0	0.008871	0	0
ALS2CL	259173	broad.mit.edu	37	3	46717892	46717892	+	Splice_Site	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr3:46717892C>A	ENST00000318962.4	-	19	2112	c.2028_splice	c.e19-1	p.A677_splice	ALS2CL_ENST00000383742.3_Splice_Site_p.A24_splice|ALS2CL_ENST00000415953.1_Splice_Site_p.A677_splice	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	677					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TTGCTCAGAGCCTGGGCCAGT	0.592000													14	25					2.31682e-05	3.64879e-05	0.003163	1	0
NUP210L	91181	broad.mit.edu	37	1	153974346	153974346	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:153974346C>A	ENST00000368559.3	-	36	5117	c.5046G>T	c.(5044-5046)aaG>aaT	p.K1682N	NUP210L_ENST00000271854.3_Intron|NUP210L_ENST00000368553.1_Intron	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1682						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GCATTCCATTCTTGCTACGTT	0.478000													73	81					2.23852e-25	5.16231e-25	0.003610	1	0
PXDNL	137902	broad.mit.edu	37	8	52321891	52321891	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr8:52321891G>T	ENST00000356297.4	-	17	2393	c.2293C>A	c.(2293-2295)Cgc>Agc	p.R765S	PXDNL_ENST00000543296.1_Missense_Mutation_p.R765S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	765					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)				CCGAGCCCGCGGGGCGCGCGG	0.786000													6	2					0.00116845	0.0017316	0.001168	1	0
CNGA2	1260	broad.mit.edu	37	X	150912084	150912084	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chrX:150912084A>T	ENST00000329903.4	+	6	1142	c.1109A>T	c.(1108-1110)aAt>aTt	p.N370I		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	370					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					ATCGTGGGAAATGTGGGCTCC	0.512000													48	60					0	0	0.003610	0	0
TLL1	7092	broad.mit.edu	37	4	166999170	166999170	+	Silent	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr4:166999170C>T	ENST00000061240.2	+	18	3077	c.2430C>T	c.(2428-2430)caC>caT	p.H810H	TLL1_ENST00000507499.1_Silent_p.H833H	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	810	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CTCCTGGCCACCGAATCAAAT	0.463000													18	24					0	0	0.006122	0	0
TCF20	6942	broad.mit.edu	37	22	42608404	42608404	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr22:42608404C>A	ENST00000359486.3	-	1	3044	c.2908G>T	c.(2908-2910)Gca>Tca	p.A970S	TCF20_ENST00000335626.4_Missense_Mutation_p.A970S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	970					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCATGGGTTGCTGCTCCAGGG	0.562000													27	44					7.26314e-15	1.50594e-14	0.007291	1	0
NFYC	4802	broad.mit.edu	37	1	41232320	41232320	+	Nonsense_Mutation	SNP	C	C	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:41232320C>G	ENST00000372652.1	+	8	1041	c.773C>G	c.(772-774)tCa>tGa	p.S258*	NFYC_ENST00000427410.2_Nonsense_Mutation_p.S220*|NFYC_ENST00000308733.5_Nonsense_Mutation_p.S258*|NFYC_ENST00000425457.2_Nonsense_Mutation_p.S258*|NFYC_ENST00000456393.2_Nonsense_Mutation_p.S258*|NFYC_ENST00000372651.1_Nonsense_Mutation_p.S258*|NFYC_ENST00000483091.1_3'UTR|NFYC_ENST00000447388.3_Nonsense_Mutation_p.S258*|NFYC_ENST00000372654.1_Nonsense_Mutation_p.S258*|NFYC_ENST00000372653.1_Nonsense_Mutation_p.S224*|NFYC_ENST00000440226.3_Nonsense_Mutation_p.S258*			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	258					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			CAGCCTGTATCAGGCACTCAA	0.537000													7	29					0	0	0.006214	0	0
MUT	4594	broad.mit.edu	37	6	49426796	49426796	+	Splice_Site	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr6:49426796C>A	ENST00000274813.3	-	2	511	c.385_splice	c.e2+1	p.K128_splice		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	128					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAATCTCACCCTTAATGTTGT	0.353000													17	17					7.05477e-17	1.48314e-16	0.004990	1	0
EMX2	2018	broad.mit.edu	37	10	119305203	119305203	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr10:119305203G>A	ENST00000553456.3	+	2	1291	c.467G>A	c.(466-468)cGg>cAg	p.R156Q	EMX2_ENST00000442245.4_Intron|EMX2_ENST00000546446.1_3'UTR	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	156						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		AAGCCCAAGCGGATCCGAACC	0.607000													4	29					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179414882	179414882	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr2:179414882G>C	ENST00000589042.1	-	337	91907	c.91683C>G	c.(91681-91683)ttC>ttG	p.F30561L	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F21496L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F28920L|TTN_ENST00000342175.6_Missense_Mutation_p.F21688L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F27993L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F21621L|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28920							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)			CTCCATCTTTGAACCAAGTTA	0.438000													21	141					0	0	0.004656	0	0
METTL17	64745	broad.mit.edu	37	14	21461276	21461276	+	Splice_Site	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr14:21461276G>A	ENST00000339374.6	+	6	761		c.e6-1		METTL17_ENST00000382985.4_Splice_Site|METTL17_ENST00000556670.2_Splice_Site	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17						translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						TATTTCTTCAGATCCGGGCTC	0.423000													49	66					0	0	0.003610	0	0
CSMD1	64478	broad.mit.edu	37	8	2813272	2813272	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr8:2813272G>T	ENST00000520002.1	-	65	10391	c.9836C>A	c.(9835-9837)cCa>cAa	p.P3279Q	CSMD1_ENST00000602557.1_Missense_Mutation_p.P3279Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.P3102Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.P3101Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.P3278Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.P3102Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3279	Sushi 28.					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)		CGGGGTTTCTGGCTGTCTGCA	0.448000													53	39					1.54043e-34	3.82569e-34	0.003610	1	0
CYLD	1540	broad.mit.edu	37	16	50813827	50813827	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr16:50813827C>T	ENST00000540145.1	+	9	1805	c.1390C>T	c.(1390-1392)Cct>Tct	p.P464S	CYLD_ENST00000427738.3_Missense_Mutation_p.P464S|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000569418.1_Missense_Mutation_p.P461S|CYLD_ENST00000564326.1_Missense_Mutation_p.P461S|CYLD_ENST00000398568.2_Missense_Mutation_p.P461S|CYLD_ENST00000311559.9_Missense_Mutation_p.P464S|CYLD_ENST00000566206.1_Missense_Mutation_p.P461S			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	464	Interaction with TRAF2.|Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GGCCATGCCTCCTGGGAACTC	0.527000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				7	47					0	0	0.001984	0	0
DIS3	22894	broad.mit.edu	37	13	73345120	73345120	+	Silent	SNP	T	T	C			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr13:73345120T>C	ENST00000377767.4	-	13	1777	c.1677A>G	c.(1675-1677)gcA>gcG	p.A559A	DIS3_ENST00000377780.4_Silent_p.A529A|DIS3_ENST00000545453.1_Silent_p.A397A	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	559					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TACATGAAAATGCCAGCCTGT	0.318000										Multiple Myeloma(4;0.011)			4	6					0	0	0.000248	0	0
FAM13C	220965	broad.mit.edu	37	10	61043179	61043179	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr10:61043179T>A	ENST00000373867.3	-	7	752	c.287A>T	c.(286-288)aAg>aTg	p.K96M	FAM13C_ENST00000468840.2_Missense_Mutation_p.K96M|FAM13C_ENST00000442566.3_Missense_Mutation_p.K200M|FAM13C_ENST00000373868.2_Missense_Mutation_p.K179M|FAM13C_ENST00000419214.2_Missense_Mutation_p.K179M|FAM13C_ENST00000277705.6_Missense_Mutation_p.K200M|FAM13C_ENST00000422313.2_Missense_Mutation_p.K179M|FAM13C_ENST00000435852.2_Missense_Mutation_p.K179M	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	179										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CGCCGGGTCCTTGACTCCATG	0.532000													56	69					0	0	0.003610	0	0
SLC22A7	10864	broad.mit.edu	37	6	43270461	43270461	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr6:43270461G>T	ENST00000372585.5	+	9	1440	c.1345G>T	c.(1345-1347)Gcc>Tcc	p.A449S	SLC22A7_ENST00000372574.3_Missense_Mutation_p.A447S|SLC22A7_ENST00000372589.3_Missense_Mutation_p.A447S	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	449						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CTTCACCACTGCCTACCTGTT	0.532000													5	12					1.26484e-09	2.33351e-09	0.003080	1	0
ZNF501	115560	broad.mit.edu	37	3	44775979	44775979	+	Silent	SNP	A	A	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr3:44775979A>G	ENST00000396048.2	+	3	503	c.66A>G	c.(64-66)tcA>tcG	p.S22S		NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	22					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		AGAAACCTTCAAAGTGTAGTG	0.413000													15	16					0	0	0.008871	0	0
PDIA2	64714	broad.mit.edu	37	16	335343	335343	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr16:335343T>A	ENST00000219406.6	+	6	845	c.827T>A	c.(826-828)cTc>cAc	p.L276H	PDIA2_ENST00000404312.1_Missense_Mutation_p.L273H|PDIA2_ENST00000462950.1_3'UTR	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	276					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GCCAGGATCCTCAACCACCTG	0.647000													21	17					0	0	0.001882	0	0
OR2G6	391211	broad.mit.edu	37	1	248685673	248685673	+	Silent	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:248685673G>T	ENST00000343414.4	+	1	758	c.726G>T	c.(724-726)tcG>tcT	p.S242S		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGACCTGTTCGTCTCACCTGG	0.463000													28	103					1.39806e-14	2.88548e-14	0.008361	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14851935	14851935	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr18:14851935A>T	ENST00000358984.4	+	36	3815	c.3635A>T	c.(3634-3636)cAa>cTa	p.Q1212L		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1297										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GCTCCTTTGCAAGGAATAATG	0.383000													5	4					0	0	0.000602	0	0
PMS2	5395	broad.mit.edu	37	7	6018269	6018269	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr7:6018269T>C	ENST00000265849.7	-	13	2338	c.2233A>G	c.(2233-2235)Ata>Gta	p.I745V	PMS2_ENST00000441476.2_Missense_Mutation_p.I639V|PMS2_ENST00000406569.3_Intron|PMS2_ENST00000382321.4_Missense_Mutation_p.I344V	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	745					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TTTCTAAATATTTCCAGATTT	0.358000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				5	9					0	0	0.004482	0	0
MMP13	4322	broad.mit.edu	37	11	102815025	102815025	+	Silent	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr11:102815025G>T	ENST00000260302.3	-	10	1414	c.1386C>A	c.(1384-1386)gtC>gtA	p.V462V		NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	462	Hemopexin-like 4.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TTGCTGGCATGACGCGAACAA	0.358000													56	85					4.73848e-44	1.18988e-43	0.003610	1	0
BICC1	80114	broad.mit.edu	37	10	60546724	60546724	+	Silent	SNP	A	A	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr10:60546724A>G	ENST00000373886.3	+	5	433	c.429A>G	c.(427-429)gaA>gaG	p.E143E		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	143	KH 1.				multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CACATACAGAACATTCACATG	0.368000													8	24					0	0	0.003080	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128776	68128776	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr17:68128776G>T	ENST00000585558.1	+	4	1041	c.653G>T	c.(652-654)cGt>cTt	p.R218L	KCNJ16_ENST00000392670.1_Missense_Mutation_p.R183L|KCNJ16_ENST00000283936.1_Missense_Mutation_p.R183L|KCNJ16_ENST00000589377.1_Missense_Mutation_p.R183L|KCNJ16_ENST00000392671.1_Missense_Mutation_p.R183L|KCNJ16_ENST00000586462.1_Missense_Mutation_p.R222L			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	183					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CAAACCATTCGTTTCAGCTAC	0.458000													21	43					3.8784e-16	8.07852e-16	0.001882	1	0
FNIP1	96459	broad.mit.edu	37	5	131008179	131008179	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr5:131008179G>A	ENST00000307968.7	-	13	1873	c.1874C>T	c.(1873-1875)tCt>tTt	p.S625F	FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Missense_Mutation_p.S608F|FNIP1_ENST00000510461.1_Missense_Mutation_p.S653F	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TTGGCAGTCAGAAGGAGAAAT	0.383000													9	115					0	0	0.004482	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213414361	213414361	+	Silent	SNP	A	A	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:213414361A>G	ENST00000366960.3	+	11	1692	c.1542A>G	c.(1540-1542)acA>acG	p.T514T	RPS6KC1_ENST00000543470.1_Silent_p.T302T|RPS6KC1_ENST00000543354.1_Silent_p.T217T|RPS6KC1_ENST00000366959.3_Silent_p.T502T|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	514					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GTTATTTAACATTATGCAATG	0.398000													23	28					0	0	0.003954	0	0
UNC79	57578	broad.mit.edu	37	14	94066930	94066930	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr14:94066930C>A	ENST00000553484.1	+	25	3542	c.3388C>A	c.(3388-3390)Ctt>Att	p.L1130I	UNC79_ENST00000393151.2_Missense_Mutation_p.L1130I|UNC79_ENST00000555664.1_Missense_Mutation_p.L1130I|UNC79_ENST00000256339.4_Missense_Mutation_p.L953I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1130						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						ATGTCTTTGTCTTGACTTCCA	0.378000													16	39					1.5739e-10	2.96417e-10	0.004007	1	0
MLNR	2862	broad.mit.edu	37	13	49795193	49795193	+	Silent	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr13:49795193G>A	ENST00000398307.1	+	1	720	c.720G>A	c.(718-720)gcG>gcA	p.A240A	MLNR_ENST00000218721.1_Silent_p.A240A			O43193	MTLR_HUMAN	motilin receptor	240					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CGAGCCCCGCGCAGCTGGGCG	0.731000													14	28					0	0	0.003163	0	0
ITGB6	3694	broad.mit.edu	37	2	161029180	161029180	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr2:161029180G>C	ENST00000283249.2	-	6	1058	c.821C>G	c.(820-822)tCt>tGt	p.S274C	ITGB6_ENST00000409967.2_Missense_Mutation_p.S274C|ITGB6_ENST00000428609.2_Missense_Mutation_p.S232C|ITGB6_ENST00000409872.1_Missense_Mutation_p.S274C|ITGB6_ENST00000485635.1_5'UTR			P18564	ITB6_HUMAN	integrin, beta 6	274	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TCCAAAATGAGAATCAGCATC	0.453000													10	100					0	0	0.001855	0	0
MS4A13	503497	broad.mit.edu	37	11	60296836	60296836	+	Splice_Site	SNP	A	A	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr11:60296836A>G	ENST00000378186.2	+	6	629		c.e6-1		MS4A13_ENST00000378185.2_Splice_Site|MS4A13_ENST00000527948.1_Intron|MS4A13_ENST00000437058.2_Splice_Site	NM_001012417.2	NP_001012417.2	Q5J8X5	M4A13_HUMAN	membrane-spanning 4-domains, subfamily A, member 13							integral to membrane				endometrium(3)|large_intestine(1)|lung(2)|skin(2)	8						TTTTGGTTATAGAAACTTGGG	0.343000													11	23					0	0	0.000978	0	0
AARS2	57505	broad.mit.edu	37	6	44272162	44272162	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr6:44272162C>A	ENST00000244571.4	-	13	1863	c.1861G>T	c.(1861-1863)Gat>Tat	p.D621Y	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	621					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CTTACCTCATCCACATGCAGC	0.592000											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	37					9.39395e-14	1.90406e-13	0.006320	1	0
ZBTB40	9923	broad.mit.edu	37	1	22839540	22839540	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:22839540G>A	ENST00000404138.1	+	13	3096	c.2585G>A	c.(2584-2586)cGc>cAc	p.R862H	ZBTB40_ENST00000374651.4_Missense_Mutation_p.R750H|ZBTB40_ENST00000375647.4_Missense_Mutation_p.R862H	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	862					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		ACCGGGGACCGCCCGTTCATG	0.577000													6	25					0	0	0.001168	0	0
DPYSL3	1809	broad.mit.edu	37	5	146780289	146780289	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr5:146780289T>A	ENST00000343218.5	-	10	1615	c.1418A>T	c.(1417-1419)gAg>gTg	p.E473V	DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000398514.3_Missense_Mutation_p.E359V	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	359					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCGCTCCTCCACACCATT	0.567000													27	25					0	0	0.006320	0	0
BRWD3	254065	broad.mit.edu	37	X	79932688	79932688	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chrX:79932688C>A	ENST00000373275.4	-	41	5045	c.4829G>T	c.(4828-4830)gGa>gTa	p.G1610V		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1610										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TAAACTGGATCCTAACTCTCC	0.388000													44	56					9.85913e-13	1.93753e-12	0.002222	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102469195	102469195	+	Silent	SNP	G	G	C			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr14:102469195G>C	ENST00000360184.4	+	23	4940	c.4776G>C	c.(4774-4776)ctG>ctC	p.L1592L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1592	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGGATGTTCTGAACATCCAGG	0.433000													5	42					0	0	0.000602	0	0
TRIM22	10346	broad.mit.edu	37	11	5730492	5730492	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr11:5730492G>T	ENST00000379965.3	+	8	1388	c.1111G>T	c.(1111-1113)Gta>Tta	p.V371L	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	371	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GATCCTGGGCGTACACAGTAA	0.393000													24	32					1.64293e-13	3.27139e-13	0.003330	1	0
CDKAL1	54901	broad.mit.edu	37	6	21108643	21108643	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr6:21108643G>C	ENST00000274695.4	+	13	1415	c.1248G>C	c.(1246-1248)agG>agC	p.R416S	CDKAL1_ENST00000378624.4_Intron|CDKAL1_ENST00000378610.1_Missense_Mutation_p.R416S	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	416					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			AAAAGCAAAGGACAAAAGATC	0.299000													8	30					0	0	0.004482	0	0
FZD8	8325	broad.mit.edu	37	10	35930182	35930182	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr10:35930182T>A	ENST00000374694.1	-	1	180	c.176A>T	c.(175-177)cAc>cTc	p.H59L		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	59	FZ.				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						TTGCGTGTCGTGGTTGAACTG	0.607000													12	19					0	0	0.001368	0	0
KIF1A	547	broad.mit.edu	37	2	241679756	241679756	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr2:241679756G>A	ENST00000498729.2	-	36	4021	c.3775C>T	c.(3775-3777)Cgt>Tgt	p.R1259C	KIF1A_ENST00000320389.7_Missense_Mutation_p.R1158C	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1158					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ATGCCCCCACGGTGGTCCACC	0.662000													4	38					0	0	0.001168	0	0
ZNF480	147657	broad.mit.edu	37	19	52825717	52825717	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr19:52825717G>T	ENST00000595962.1	+	5	1280	c.1214G>T	c.(1213-1215)gGa>gTa	p.G405V	ZNF480_ENST00000334564.7_Missense_Mutation_p.G362V|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000335090.6_Missense_Mutation_p.G328V	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		AATGAATGTGGAAAAGTATTT	0.338000													15	55					6.31663e-08	1.05745e-07	0.003163	1	0
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													4	44					0	0	0.001168	0	0
ZFHX4	79776	broad.mit.edu	37	8	77619931	77619931	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr8:77619931C>T	ENST00000521891.2	+	3	3189	c.2741C>T	c.(2740-2742)tCt>tTt	p.S914F	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S888F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S888F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S888F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	888						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAATTCACCTCTGACAGCCTG	0.522000										HNSCC(33;0.089)			29	15					0	0	0.001786	0	0
FGF12	2257	broad.mit.edu	37	3	192125822	192125822	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr3:192125822C>T	ENST00000454309.2	-	1	1016	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	FGF12_ENST00000264730.3_Intron|FGF12_ENST00000445105.1_Intron|FGF12_ENST00000450716.1_Intron|FGF12_ENST00000430714.1_Intron	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	64					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		ACCTGGTCTCCGCCTCACCGG	0.667000													13	112					0	0	0.004007	0	0
MFHAS1	9258	broad.mit.edu	37	8	8748915	8748915	+	Silent	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr8:8748915G>A	ENST00000276282.6	-	1	2240	c.1654C>T	c.(1654-1656)Ctg>Ttg	p.L552L		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	552	Roc.									endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TGAATGTCCAGACATTTCTCC	0.657000													7	16					0	0	0.003080	0	0
ABCA13	154664	broad.mit.edu	37	7	48443409	48443409	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr7:48443409G>T	ENST00000435803.1	+	39	12027	c.12003G>T	c.(12001-12003)gaG>gaT	p.E4001D		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4001	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCTGGATGAGCCCACCAGTG	0.577000													11	15					3.86212e-05	6.01958e-05	0.008291	1	0
CRNN	49860	broad.mit.edu	37	1	152383274	152383274	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:152383274C>T	ENST00000271835.3	-	3	346	c.284G>A	c.(283-285)gGa>gAa	p.G95E	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	95					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGCAGGCTCCCTCAGCACT	0.562000													16	314					0	0	0.006122	0	0
C10orf71	118461	broad.mit.edu	37	10	50530874	50530874	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr10:50530874G>T	ENST00000374144.3	+	3	572	c.284G>T	c.(283-285)tGg>tTg	p.W95L	C10orf71_ENST00000323868.4_Missense_Mutation_p.W95L			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	95										endometrium(1)	1						CATTCGGGCTGGGCGGCCACC	0.577000													30	41					1.45844e-13	2.91687e-13	0.002836	1	0
C9orf84	158401	broad.mit.edu	37	9	114470151	114470151	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr9:114470151C>T	ENST00000394779.3	-	15	2477	c.2233G>A	c.(2233-2235)Gaa>Aaa	p.E745K	C9orf84_ENST00000318737.4_Missense_Mutation_p.E784K|C9orf84_ENST00000394777.4_Missense_Mutation_p.E710K|C9orf84_ENST00000374287.3_Missense_Mutation_p.E784K	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	784										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAAACACCTTCAGATTCCAGA	0.328000													10	103					0	0	0.000978	0	0
FMR1	2332	broad.mit.edu	37	X	147011469	147011469	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chrX:147011469G>T	ENST00000218200.8	+	6	651	c.422G>T	c.(421-423)tGt>tTt	p.C141F	FMR1_ENST00000370470.1_Missense_Mutation_p.C141F|FMR1_ENST00000370475.4_Missense_Mutation_p.C141F|FMR1_ENST00000370471.3_Missense_Mutation_p.C141F|FMR1_ENST00000370477.1_Missense_Mutation_p.C141F|FMR1_ENST00000334557.6_Missense_Mutation_p.C141F|FMR1_ENST00000439526.2_Missense_Mutation_p.C141F	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	141					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					atttCTAGGTGTGCCAAAGAG	0.323000									Fragile X syndrome				14	16					9.31168e-06	1.4768e-05	0.001855	1	0
OTUD5	55593	broad.mit.edu	37	X	48781242	48781242	+	Silent	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chrX:48781242G>T	ENST00000156084.4	-	7	1426	c.1366C>A	c.(1366-1368)Cgg>Agg	p.R456R	OTUD5_ENST00000396743.3_Silent_p.R451R|OTUD5_ENST00000428668.2_Silent_p.R234R|OTUD5_ENST00000376488.3_Silent_p.R451R	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU domain containing 5	456					negative regulation of type I interferon production		cysteine-type peptidase activity	p.R427G(1)|p.R456G(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						GCTGAACTCCGCTGCCGCGGG	0.637000													7	13					2.0095e-06	3.2439e-06	0.001984	1	0
DAGLA	747	broad.mit.edu	37	11	61495745	61495745	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr11:61495745G>A	ENST00000257215.5	+	7	873	c.757G>A	c.(757-759)Gcc>Acc	p.A253T		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	253					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CAAGCGCAACGCCGTGCTGGA	0.647000													24	51					0	0	0.005443	0	0
DDI1	414301	broad.mit.edu	37	11	103907842	103907842	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr11:103907842G>A	ENST00000302259.3	+	1	535	c.292G>A	c.(292-294)Ggc>Agc	p.G98S	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	98					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AGACTTCAGTGGCATTGCGGT	0.642000													43	54					0	0	0.002222	0	0
KIAA0947	23379	broad.mit.edu	37	5	5457453	5457453	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr5:5457453G>T	ENST00000296564.7	+	12	922	c.700G>T	c.(700-702)Gcc>Tcc	p.A234S		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	234										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGAAAAACCTGCCAAAGCAAT	0.428000													10	12					7.03913e-09	1.23801e-08	0.001368	1	0
PLCB1	23236	broad.mit.edu	37	20	8689341	8689341	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr20:8689341T>A	ENST00000378641.3	+	12	1667	c.1192T>A	c.(1192-1194)Tgt>Agt	p.C398S	PLCB1_ENST00000378637.2_Missense_Mutation_p.C398S|PLCB1_ENST00000338037.6_Missense_Mutation_p.C398S	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	398	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AATTGCGGAGTGTGCATTTAA	0.343000													8	18					0	0	0.004482	0	0
GPM6B	2824	broad.mit.edu	37	X	13795473	13795473	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chrX:13795473C>T	ENST00000454189.2	-	5	719	c.592G>A	c.(592-594)Gag>Aag	p.E198K	GPM6B_ENST00000355135.2_Missense_Mutation_p.E257K|GPM6B_ENST00000493677.1_Missense_Mutation_p.E231K|GPM6B_ENST00000356942.5_Missense_Mutation_p.E217K|GPM6B_ENST00000316715.4_Missense_Mutation_p.E257K|GPM6B_ENST00000398361.3_Missense_Mutation_p.E131K	NM_001001994.1	NP_001001994.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	217					cell differentiation|nervous system development	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						GAGTTTACCTCGTTTGTGTTG	0.433000													5	28					0	0	0.000602	0	0
ZNF35	7584	broad.mit.edu	37	3	44700297	44700297	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr3:44700297C>T	ENST00000396056.2	+	4	677	c.442C>T	c.(442-444)Caa>Taa	p.Q148*	RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000399560.2_Silent_p.L99L|ZNF35_ENST00000542250.1_5'UTR|ZNF35_ENST00000453164.1_Silent_p.L99L|ZNF35_ENST00000296092.3_Silent_p.L99L	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	148	Globular domain.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		AGCTGATCCTCAAGGACCTGA	0.388000													6	47					0	0	0.003080	0	0
CACNG3	10368	broad.mit.edu	37	16	24268207	24268207	+	Silent	SNP	T	T	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr16:24268207T>A	ENST00000005284.3	+	1	1334	c.132T>A	c.(130-132)tcT>tcA	p.S44S		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	44					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GGACTAAATCTACAAGTGATA	0.453000													31	50					0	0	0.008361	0	0
POPDC3	64208	broad.mit.edu	37	6	105609469	105609469	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr6:105609469G>A	ENST00000254765.3	-	2	594	c.316C>T	c.(316-318)Cga>Tga	p.R106*	BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000369122.3_RNA|POPDC3_ENST00000474760.1_Intron	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	106			R -> Q (in dbSNP:rs11961225).			integral to membrane		p.R106R(1)		NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				TGGAATTCTCGGGCAAAGGTT	0.438000													12	75					0	0	0.002450	0	0
FUNDC2	65991	broad.mit.edu	37	X	154261779	154261779	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chrX:154261779G>A	ENST00000369498.3	+	2	489	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	79						mitochondrion				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACCTTCAGCAGAAAAGTATAG	0.463000													6	127					0	0	0.001984	0	0
OR14K1	343170	broad.mit.edu	37	1	247902441	247902441	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:247902441C>A	ENST00000283225.2	+	1	525	c.525C>A	c.(523-525)ttC>ttA	p.F175L	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						TACATCAGTTCTTCTGCGATG	0.463000													77	284					1.30681e-28	3.10883e-28	0.003610	1	0
LGALS2	3957	broad.mit.edu	37	22	37966365	37966365	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr22:37966365C>A	ENST00000215886.4	-	4	478	c.304G>T	c.(304-306)Gag>Tag	p.E102*		NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	102	Galectin.									breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					AAAGTCAGCTCGTGCCCATCT	0.527000													7	55					8.12818e-05	0.00012454	0.001984	1	0
OR9A4	130075	broad.mit.edu	37	7	141619371	141619371	+	Silent	SNP	T	T	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr7:141619371T>G	ENST00000548136.1	+	1	755	c.696T>G	c.(694-696)tcT>tcG	p.S232S	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CGTCATCCTCTGGCCGGAGGA	0.483000													31	59					0	0	0.002445	0	0
RGS10	6001	broad.mit.edu	37	10	121285608	121285608	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr10:121285608C>G	ENST00000392865.1	-	3	211	c.149G>C	c.(148-150)aGt>aCt	p.S50T	RGS10_ENST00000369103.2_Missense_Mutation_p.S64T|RGS10_ENST00000369101.3_Missense_Mutation_p.S56T	NM_002925.3	NP_002916.1	O43665	RGS10_HUMAN	regulator of G-protein signaling 10	56	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		ATTTTCTTCACTGAATTCCTT	0.299000													16	35					0	0	0.004990	0	0
INTS2	57508	broad.mit.edu	37	17	59968907	59968907	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr17:59968907C>A	ENST00000444766.3	-	14	1941	c.1866G>T	c.(1864-1866)caG>caT	p.Q622H	INTS2_ENST00000251334.6_Missense_Mutation_p.Q614H	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	622					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TGAGTATCTCCTGTTCTGTGA	0.333000													41	67					6.31075e-24	1.4334e-23	0.003610	1	0
DDRGK1	65992	broad.mit.edu	37	20	3175885	3175885	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr20:3175885C>T	ENST00000354488.3	-	5	682	c.625G>A	c.(625-627)Gag>Aag	p.E209K	DDRGK1_ENST00000380201.2_Missense_Mutation_p.E209K	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	209						endoplasmic reticulum	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						ACCTGTTCCTCAGTCATGGTC	0.642000													11	71					0	0	0.001855	0	0
CLEC16A	23274	broad.mit.edu	37	16	11154765	11154765	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr16:11154765C>T	ENST00000409790.1	+	19	2232	c.2002C>T	c.(2002-2004)Cgg>Tgg	p.R668W	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Missense_Mutation_p.R650W	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	668								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCAGGCCATCCGGGTGTTCTT	0.532000													23	198					0	0	0.003330	0	0
ZFX	7543	broad.mit.edu	37	X	24197628	24197628	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chrX:24197628G>T	ENST00000379177.1	+	6	814	c.387G>T	c.(385-387)atG>atT	p.M129I	ZFX_ENST00000338565.3_Missense_Mutation_p.M129I|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000540034.1_Missense_Mutation_p.M168I|ZFX_ENST00000304543.5_Missense_Mutation_p.M129I|ZFX_ENST00000379188.3_Missense_Mutation_p.M129I	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CAATGTCTATGCCAGAACACG	0.428000													83	133					3.89792e-41	9.73404e-41	0.003610	1	0
AMELX	265	broad.mit.edu	37	X	11316772	11316772	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chrX:11316772C>A	ENST00000380712.3	+	6	359	c.291C>A	c.(289-291)caC>caA	p.H97Q	ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380718.1_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.H67Q|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380732.3_Intron|AMELX_ENST00000380714.3_Missense_Mutation_p.H83Q|ARHGAP6_ENST00000337414.4_Intron	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	83					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						AGCCTCATCACCACATCCCAG	0.602000													50	74					1.46357e-32	3.57586e-32	0.003610	1	0
CPS1	1373	broad.mit.edu	37	2	211441117	211441117	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr2:211441117C>A	ENST00000233072.5	+	3	480	c.284C>A	c.(283-285)aCa>aAa	p.T95K	CPS1_ENST00000430249.2_Missense_Mutation_p.T101K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	95	Anthranilate phosphoribosyltransferase homolog.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CAGATTCTCACAATGGCCAAC	0.413000													31	45					3.99451e-17	8.47661e-17	0.001786	1	0
C3	718	broad.mit.edu	37	19	6696469	6696469	+	Silent	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr19:6696469C>A	ENST00000245907.6	-	23	2963	c.2871G>T	c.(2869-2871)gtG>gtT	p.V957V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	957					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCTCTTTCTGCACTCCTTCTG	0.572000													13	16					1.5842e-08	2.72266e-08	0.001855	1	0
CNTN4	152330	broad.mit.edu	37	3	2861215	2861215	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr3:2861215G>T	ENST00000397461.1	+	6	788	c.404G>T	c.(403-405)cGt>cTt	p.R135L	CNTN4_ENST00000418658.1_Missense_Mutation_p.R135L|CNTN4_ENST00000427331.1_Missense_Mutation_p.R135L	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	135	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTGTCTGTCCGTCGAGGTCAA	0.403000													19	30					1.55795e-14	3.20087e-14	0.001882	1	0
ALX1	8092	broad.mit.edu	37	12	85677598	85677598	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr12:85677598G>T	ENST00000316824.3	+	2	630	c.475G>T	c.(475-477)Gtg>Ttg	p.V159L		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	159					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		TTACCCGGATGTGTATGTCAG	0.493000													32	48					1.30293e-26	3.08338e-26	0.003271	1	0
PMS2P3	5387	broad.mit.edu	37	7	75141678	75141678	+	RNA	SNP	G	G	C			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr7:75141678G>C	ENST00000418756.1	-	0	1145					NR_028059.1															lung(1)	1						AAAACCGAAAGTTTCAACTTC	0.423000													6	15					0	0	0.001984	0	0
EXT2	2132	broad.mit.edu	37	11	44254029	44254029	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr11:44254029G>A	ENST00000395673.3	+	11	1944	c.1888G>A	c.(1888-1890)Gca>Aca	p.A630T	EXT2_ENST00000358681.4_Missense_Mutation_p.A607T|EXT2_ENST00000343631.3_Missense_Mutation_p.A597T|EXT2_ENST00000533608.1_Missense_Mutation_p.A597T	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	597					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCTCACTGGGGCAGCTTTTTA	0.463000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				12	18					0	0	0.001368	0	0
ELF1	1997	broad.mit.edu	37	13	41525519	41525519	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr13:41525519C>T	ENST00000239882.3	-	4	621	c.307G>A	c.(307-309)Gag>Aag	p.E103K	ELF1_ENST00000442101.1_Missense_Mutation_p.E103K|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	103					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		AGGAGTGCCTCAGCAGCCTCA	0.368000													8	66					0	0	0.008291	0	0
ZNF74	7625	broad.mit.edu	37	22	20755021	20755021	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr22:20755021G>C	ENST00000400451.2	+	3	734	c.220G>C	c.(220-222)Gag>Cag	p.E74Q	ZNF74_ENST00000405993.1_Missense_Mutation_p.E74Q|ZNF74_ENST00000357502.5_Missense_Mutation_p.G79A|ZNF74_ENST00000356671.5_Missense_Mutation_p.E74Q|ZNF74_ENST00000403682.3_Missense_Mutation_p.G45A	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	74	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TGTGATGTTGGAGAACTACCA	0.542000													15	79					0	0	0.002450	0	0
KIAA2026	158358	broad.mit.edu	37	9	5921057	5921057	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr9:5921057C>T	ENST00000399933.3	-	8	4938	c.4939G>A	c.(4939-4941)Gca>Aca	p.A1647T	KIAA2026_ENST00000381461.2_Missense_Mutation_p.A1617T	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1647										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ACTGCTCTTGCTGAAGAAACC	0.423000													19	31					0	0	0.006122	0	0
INSC	387755	broad.mit.edu	37	11	15222462	15222462	+	Silent	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr11:15222462C>T	ENST00000379554.3	+	7	973	c.927C>T	c.(925-927)tgC>tgT	p.C309C	INSC_ENST00000447214.2_Intron|INSC_ENST00000424273.1_Intron|INSC_ENST00000530161.1_Silent_p.C262C|INSC_ENST00000379556.3_Silent_p.C262C|INSC_ENST00000525218.1_Intron|INSC_ENST00000528567.1_Silent_p.C262C	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	309					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CCTCCATCTGCTGCGTGGAAG	0.632000													4	2					0	0	0.000248	0	0
WDR52	55779	broad.mit.edu	37	3	113084966	113084966	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr3:113084966C>T	ENST00000393845.2	-	19	2701	c.2635G>A	c.(2635-2637)Gat>Aat	p.D879N	WDR52_ENST00000295868.2_Missense_Mutation_p.D879N	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	879										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ATATTGCCATCTGCTCCAGCA	0.363000													7	52					0	0	0.001984	0	0
BDP1	55814	broad.mit.edu	37	5	70785481	70785481	+	Silent	SNP	G	G	C			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr5:70785481G>C	ENST00000358731.4	+	10	1727	c.1464G>C	c.(1462-1464)gcG>gcC	p.A488A	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	488					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CTGTTCAGGCGGGTCCTTCTA	0.348000													17	28					0	0	0.007413	0	0
NKRF	55922	broad.mit.edu	37	X	118724577	118724577	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chrX:118724577C>G	ENST00000371527.1	-	2	1463	c.811G>C	c.(811-813)Gta>Cta	p.V271L	NKRF_ENST00000542113.1_Missense_Mutation_p.V286L|NKRF_ENST00000304449.5_Missense_Mutation_p.V271L|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	271	Active repression domain.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						AAGAGTTTTACAGCTAGCTCT	0.453000													49	64					0	0	0.003610	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													6	120					0	0	0.001168	0	0
PCDH12	51294	broad.mit.edu	37	5	141335212	141335212	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr5:141335212C>G	ENST00000231484.3	-	1	3415	c.2205G>C	c.(2203-2205)ttG>ttC	p.L735F		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	735					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)			TGGACATGAACAAAGCCAGGA	0.592000													12	25					0	0	0.000978	0	0
TOX2	84969	broad.mit.edu	37	20	42694462	42694462	+	Silent	SNP	G	G	T	rs148482710		TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr20:42694462G>T	ENST00000358131.5	+	6	1225	c.1017G>T	c.(1015-1017)acG>acT	p.T339T	TOX2_ENST00000341197.3_Silent_p.T357T|TOX2_ENST00000423191.1_Silent_p.T315T|TOX2_ENST00000435864.2_Silent_p.T235T|TOX2_ENST00000372999.1_Silent_p.T315T	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CCTTCCTGACGCCGTCGGACC	0.662000													25	53					3.6726e-16	7.68526e-16	0.003954	1	0
PNPLA4	8228	broad.mit.edu	37	X	7889850	7889850	+	Silent	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chrX:7889850C>T	ENST00000381042.4	-	4	485	c.315G>A	c.(313-315)gaG>gaA	p.E105E	PNPLA4_ENST00000537427.1_Silent_p.E18E|PNPLA4_ENST00000444736.1_Silent_p.E105E	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	105	Patatin.				lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				TCTGGGCCAGCTCGTGAGCGC	0.443000													11	22					0	0	0.008291	0	0
ZNF423	23090	broad.mit.edu	37	16	49670203	49670203	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr16:49670203C>A	ENST00000561648.1	-	4	2913	c.2860G>T	c.(2860-2862)Ggc>Tgc	p.G954C	ZNF423_ENST00000535559.1_Missense_Mutation_p.G837C|ZNF423_ENST00000262383.2_Missense_Mutation_p.G954C|ZNF423_ENST00000562871.1_Missense_Mutation_p.G894C|ZNF423_ENST00000562520.1_Missense_Mutation_p.G894C|ZNF423_ENST00000567169.1_Missense_Mutation_p.G837C|ZNF423_ENST00000563137.2_Missense_Mutation_p.G894C	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	954					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTGGCAGGGCCCCGGTGCGTC	0.577000													17	34					0.000958276	0.00143424	0.007413	1	0
TNN	63923	broad.mit.edu	37	1	175086284	175086284	+	Missense_Mutation	SNP	G	G	T	rs147066934		TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:175086284G>T	ENST00000239462.4	+	10	2442	c.2329G>T	c.(2329-2331)Gtg>Ttg	p.V777L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	777	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.V777L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CACGGTGCACGTGTGGGCCCA	0.592000													21	88					2.4624e-09	4.50609e-09	0.008871	1	0
STEAP1	26872	broad.mit.edu	37	7	89790150	89790150	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr7:89790150A>G	ENST00000297205.2	+	3	316	c.116A>G	c.(115-117)aAa>aGa	p.K39R	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	39					electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					AGCATGCTAAAAAGACCTGTG	0.408000													25	52					0	0	0.004656	0	0
RGS12	6002	broad.mit.edu	37	4	3319586	3319586	+	Silent	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr4:3319586C>T	ENST00000336727.3	+	2	2593	c.1689C>T	c.(1687-1689)ggC>ggT	p.G563G	RGS12_ENST00000344733.5_Silent_p.G563G|RGS12_ENST00000543385.1_Silent_p.G563G|RGS12_ENST00000382788.3_Silent_p.G563G	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	563						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCACCGATGGCTGGTCCAGCA	0.642000													19	51					0	0	0.007413	0	0
USH2A	7399	broad.mit.edu	37	1	215987179	215987179	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:215987179G>T	ENST00000366943.2	-	49	10024	c.9638C>A	c.(9637-9639)cCg>cAg	p.P3213Q	USH2A_ENST00000307340.3_Missense_Mutation_p.P3213Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3213					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)		CAGAACAAACGGGATATACTT	0.418000										HNSCC(13;0.011)			27	62					1.33986e-20	2.93989e-20	0.004656	1	0
KEAP1	9817	broad.mit.edu	37	19	10600474	10600474	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr19:10600474T>C	ENST00000171111.5	-	4	1928	c.1381A>G	c.(1381-1383)Atc>Gtc	p.I461V	KEAP1_ENST00000393623.2_Missense_Mutation_p.I461V	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CCCACCCCGATCCTTCGTGTC	0.552000													12	15					0	0	0.001368	0	0
ZNF257	113835	broad.mit.edu	37	19	22271945	22271945	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr19:22271945G>T	ENST00000594947.1	+	4	1537	c.1393G>T	c.(1393-1395)Ggc>Tgc	p.G465C		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G465C(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAAGAGTGTGGCAAAGCCTT	0.403000													11	27					4.68919e-08	7.90863e-08	0.008291	1	0
DNAJB14	79982	broad.mit.edu	37	4	100822192	100822192	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr4:100822192C>T	ENST00000442697.2	-	8	1287	c.1133G>A	c.(1132-1134)gGa>gAa	p.G378E		NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	378					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		AGTTCATCCTCCTTTATAAAG	0.378000													4	49					0	0	0.000602	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31485687	31485687	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr16:31485687C>G	ENST00000394863.3	+	6	560	c.430C>G	c.(430-432)Cct>Gct	p.P144A	TGFB1I1_ENST00000394858.2_Missense_Mutation_p.P127A|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.P127A|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.P127A	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	144	Interaction with PTK2B.|Transcription activation (By similarity).				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						CAGCCCGTCTCCTGGCCTCCC	0.557000													12	64					0	0	0.001368	0	0
PITPNM3	83394	broad.mit.edu	37	17	6381406	6381406	+	Silent	SNP	G	G	A			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr17:6381406G>A	ENST00000262483.8	-	8	876	c.789C>T	c.(787-789)atC>atT	p.I263I	ACKR6_ENST00000421306.3_Silent_p.I227I	NM_031220.3	NP_112497.2																					CACAGTCCCCGATGAGACACA	0.677000													16	31					0	0	0.003163	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73316265	73316265	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr2:73316265C>T	ENST00000258098.6	-	2	850	c.610G>A	c.(610-612)Gat>Aat	p.D204N	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	204					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GATTCCAGATCATACTTCTTC	0.542000													20	118					0	0	0.008871	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													3	22					0	0	0.004672	0	0
MSH4	4438	broad.mit.edu	37	1	76347047	76347047	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:76347047delC	ENST00000263187.3	+	14	2002	c.1898delC	c.(1897-1899)ttfs	p.S633fs		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	633					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TGCACTCTTTCTGACTATGGT	0.299								Mismatch excision repair (MMR)					29	31	---	---	---	---					
LOC645166	645166	broad.mit.edu	37	1	148932931	148932932	+	RNA	INS	-	-	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:148932931_148932932insT	ENST00000539543.1	+	0	176					NR_027355.1																						GTAAGGTCCCCTCCAGGGGCAA	0.594													9	118	---	---	---	---					
TCHH	7062	broad.mit.edu	37	1	152079960	152079960	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:152079960delC	ENST00000368804.1	-	2	5732	c.5733delG	c.(5731-5733)cgfs	p.R1911fs		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1911					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCCAGAAGCCGCCCATGGC	0.567													35	122	---	---	---	---					
SLAMF1	6504	broad.mit.edu	37	1	160589601	160589601	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr1:160589601delT	ENST00000302035.6	-	5	1178	c.829delA	c.(829-831)gcfs	p.S277fs	SLAMF1_ENST00000355199.3_Frame_Shift_Del_p.S277fs|SLAMF1_ENST00000235739.5_Frame_Shift_Del_p.S247fs|SLAMF1_ENST00000538290.1_Intron	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	277					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATCGTAAGGCTTTTTTTTTCC	0.433													13	214	---	---	---	---					
NEB	4703	broad.mit.edu	37	2	152512848	152512870	+	Frame_Shift_Del	DEL	TTTTTCTTGTACTCCCGATCAGA	TTTTTCTTGTACTCCCGATCAGA	-			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr2:152512848_152512870delTTTTTCTTGTACTCCCGATCAGA	ENST00000427231.2	-	49	6494_6516	c.6292_6314delTCTGATCGGGAGTACAAGAAAAA	c.(6292-6315)cfs	p.SDREYKKN2098fs	NEB_ENST00000409198.1_Frame_Shift_Del_p.SDREYKKN2098fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.SDREYKKN2098fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.SDREYKKN2098fs|NEB_ENST00000397345.3_Frame_Shift_Del_p.SDREYKKN2098fs|NEB_ENST00000172853.10_Frame_Shift_Del_p.SDREYKKN2098fs	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2098					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	p.R2100L(2)		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)		GTTCTCATAGTTTTTCTTGTACTCCCGATCAGATTGCATCTTA	0.466													17	94	---	---	---	---					
ZIC4	84107	broad.mit.edu	37	3	147114028	147114028	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr3:147114028delC	ENST00000383075.3	-	3	811	c.299delG	c.(298-300)gcfs	p.G100fs	ZIC4_ENST00000473123.1_Frame_Shift_Del_p.G100fs|ZIC4_ENST00000425731.3_Frame_Shift_Del_p.G138fs|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Frame_Shift_Del_p.G150fs|ZIC4_ENST00000484399.1_Frame_Shift_Del_p.G100fs	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	100						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CAGGTTCATGCCCCCGTAGCC	0.687													14	16	---	---	---	---					
INTS4P2	644619	broad.mit.edu	37	7	65150818	65150819	+	RNA	INS	-	-	G			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr7:65150818_65150819insG	ENST00000430126.2	+	0	757																											CATCCCTCACCCCCCCCCCCGT	0.470													7	5	---	---	---	---					
NYAP1	222950	broad.mit.edu	37	7	100084609	100084609	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr7:100084609delG	ENST00000423930.1	+	3	393	c.234delG	c.(232-234)atfs	p.M78fs	NYAP1_ENST00000454988.1_Frame_Shift_Del_p.M21fs|NYAP1_ENST00000300179.2_Frame_Shift_Del_p.M78fs			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	78																	GCAGCGCCATGGCCCCACGCT	0.721													5	8	---	---	---	---					
CTC-756D1.2	0	broad.mit.edu	37	8	23340679	23340698	+	RNA	DEL	CAGCAGCAGTAGCAGCAGGT	CAGCAGCAGTAGCAGCAGGT	-			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr8:23340679_23340698delCAGCAGCAGTAGCAGCAGGT	ENST00000521021.1	+	0	491																											ccacagacagcagcagcagtagcagcagGTGAGGAGGCTG	0.609													7	3	---	---	---	---					
CSMD3	114788	broad.mit.edu	37	8	113694670	113694671	+	Splice_Site	DEL	CC	CC	-			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr8:113694670_113694671delCC	ENST00000297405.5	-	16	2921_2922	c.2677_splice	c.e16+1	p.893_splice	CSMD3_ENST00000352409.3_Splice_Site_p.893_splice|CSMD3_ENST00000455883.2_Splice_Site_p.789_splice|CSMD3_ENST00000343508.3_Splice_Site_p.853_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	893	Sushi 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTACACTTACCTCCACATTTT	0.351										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	77	---	---	---	---					
GAS2	2620	broad.mit.edu	37	11	22747844	22747844	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr11:22747844delC	ENST00000454584.2	+	4	579	c.274delC	c.(274-276)cgfs	p.P92fs	GAS2_ENST00000278187.3_Frame_Shift_Del_p.P92fs|GAS2_ENST00000433790.1_Frame_Shift_Del_p.P92fs	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	92	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TCAGAATCTACCGTTGAAGAA	0.383													23	37	---	---	---	---					
BMS1P20	96610	broad.mit.edu	37	16	33497886	33497887	+	RNA	INS	-	-	T			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr16:33497886_33497887insT	ENST00000565156.1	-	0	252																											TCAAGCATGAATGGTAATACCC	0.530													15	25	---	---	---	---					
ADNP2	22850	broad.mit.edu	37	18	77895677	77895681	+	Frame_Shift_Del	DEL	TGGGG	TGGGG	-			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr18:77895677_77895681delTGGGG	ENST00000262198.4	+	4	2836_2840	c.2381_2385delTGGGG	c.(2380-2385)cfs	p.LG794fs		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	794					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AATAGGCACCTGGGGAAGAAGAAGT	0.459													24	76	---	---	---	---					
TAF4	6874	broad.mit.edu	37	20	60581656	60581656	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7158-01A-11D-2036-08	TCGA-78-7158-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	199bbb0f-996c-40c1-b06d-2066f04be778	3f4bced4-f89a-43d2-9c5f-6f9683897fa7	g.chr20:60581656delG	ENST00000252996.3	-	7	2132	c.2133delC	c.(2131-2133)gcfs	p.A711fs	TAF4_ENST00000488539.1_5'UTR	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	711					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TGGTCACGGTGGCCGCCGTCT	0.721													7	9	---	---	---	---