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
ZNF491	126069	broad.mit.edu	37	19	11917167	11917167	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr19:11917167T>G	ENST00000323169.5	+	3	730	c.399T>G	c.(397-399)tgT>tgG	p.C133W	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						CTTATAAATGTAAGTTTTGTG	0.373000													8	105					0	0	1	0	0
RBM7	10179	broad.mit.edu	37	11	114272469	114272469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr11:114272469C>T	ENST00000544347.1	+	2	136	c.136C>T	c.(136-138)Caa>Taa	p.Q46*	RBM7_ENST00000541475.1_Missense_Mutation_p.P49L|RBM7_ENST00000375490.5_Missense_Mutation_p.P49L|RBM7_ENST00000545678.1_Intron|RBM7_ENST00000540163.1_Missense_Mutation_p.P49L|RBM7_ENST00000544582.1_Missense_Mutation_p.P49L																							GATGGTAAACCAAAGCAGTTT	0.328000													3	40					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18635941	18635941	+	Splice_Site	SNP	C	C	A	rs151019079	byFrequency	TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr9:18635941C>A	ENST00000380548.4	+	6	941	c.602C>A	c.(601-603)tCg>tAg	p.S201*	ADAMTSL1_ENST00000380566.4_Splice_Site_p.S201*|ADAMTSL1_ENST00000276935.6_Splice_Site_p.S201*|ADAMTSL1_ENST00000327883.7_Splice_Site_p.S201*	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	201						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTCTCTCTAGCGGATGATACT	0.358000													4	69					0.0215528	0.0219641	1	1	0
KLHDC2	23588	broad.mit.edu	37	14	50238354	50238354	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr14:50238354G>A	ENST00000298307.5	+	2	1057	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	KLHDC2_ENST00000554589.1_Missense_Mutation_p.E66K|KLHDC2_ENST00000557247.1_Missense_Mutation_p.E66K|KLHDC2_ENST00000553538.1_3'UTR	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	66						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					TCTGCCTAGAGAAGAACTATG	0.358000													7	78					0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6191156	6191156	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr11:6191156T>C	ENST00000530810.1	-	1	482	c.401A>G	c.(400-402)tAt>tGt	p.Y134C	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTGTTGTATATCTCAGTGG	0.507000													3	56					0	0	1	0	0
SP2	6668	broad.mit.edu	37	17	45992745	45992745	+	Silent	SNP	C	C	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr17:45992745C>A	ENST00000376741.4	+	2	212	c.75C>A	c.(73-75)tcC>tcA	p.S25S	AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	25					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CTGCCGCCTCCACCACCCAGG	0.547000													6	126					0.00116845	0.00122825	1	1	0
SMC6	79677	broad.mit.edu	37	2	17898110	17898110	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr2:17898110T>C	ENST00000448223.2	-	14	1513	c.1244A>G	c.(1243-1245)gAg>gGg	p.E415G	SMC6_ENST00000402989.1_Missense_Mutation_p.E415G|SMC6_ENST00000351948.4_Missense_Mutation_p.E415G|SMC6_ENST00000381272.4_Missense_Mutation_p.E441G	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	415					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTTTACTCTCTCTTTTAACCA	0.338000													8	93					0	0	1	0	0
CBS	875	broad.mit.edu	37	21	44474032	44474032	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr21:44474032G>C	ENST00000398165.3	-	17	1873	c.1614C>G	c.(1612-1614)gaC>gaG	p.D538E	CBS_ENST00000398168.1_Missense_Mutation_p.D552E|CBS_ENST00000359624.3_Missense_Mutation_p.D538E|CBS_ENST00000352178.5_Missense_Mutation_p.D538E|CBS_ENST00000544202.1_Missense_Mutation_p.D450E|CBS_ENST00000398158.1_Missense_Mutation_p.D538E	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	538					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	AGTTCAGCAAGTCAATGGCGG	0.662000													4	79					0	0	1	0	0
MBD2	8932	broad.mit.edu	37	18	51690899	51690899	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr18:51690899T>A	ENST00000256429.3	-	5	1331	c.1103A>T	c.(1102-1104)gAc>gTc	p.D368V		NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	368					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	TTACCTGATGTCTTCATCTGT	0.408000													4	67					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200193515	200193515	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr2:200193515C>T	ENST00000443023.1	-	7	2580	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	SATB2_ENST00000417098.1_Missense_Mutation_p.R431H|SATB2_ENST00000457245.1_Missense_Mutation_p.R431H|RP11-486F17.1_ENST00000489557.2_RNA|SATB2_ENST00000260926.5_Missense_Mutation_p.R431H|SATB2_ENST00000428695.1_Missense_Mutation_p.R313H			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	431						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.R431H(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGGTAGATGCGATCTCGCTC	0.562000													9	31					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477253	110477253	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr8:110477253C>T	ENST00000378402.5	+	49	8296	c.8192C>T	c.(8191-8193)cCa>cTa	p.P2731L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2731					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTGGTTCTCCCATTTAGTGAA	0.453000										HNSCC(38;0.096)			5	98					0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66947095	66947095	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr16:66947095G>T	ENST00000299752.4	-	9	1186	c.993C>A	c.(991-993)gaC>gaA	p.D331E	CDH16_ENST00000570262.1_Missense_Mutation_p.D251E|CDH16_ENST00000394055.3_Missense_Mutation_p.D331E|CDH16_ENST00000565796.1_Missense_Mutation_p.D331E|CDH16_ENST00000568632.1_Missense_Mutation_p.D234E	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	331	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TAGGCACGTTGTCATTCTCAT	0.597000													8	143					0.000157383	0.000168085	1	1	0
CPSF7	79869	broad.mit.edu	37	11	61196668	61196668	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr11:61196668C>A	ENST00000340437.4	-	2	249	c.169G>T	c.(169-171)Gag>Tag	p.E57*	CPSF7_ENST00000394888.4_Nonsense_Mutation_p.E14*|CPSF7_ENST00000439958.3_Nonsense_Mutation_p.E14*|CPSF7_ENST00000541963.1_Nonsense_Mutation_p.E14*|CPSF7_ENST00000448745.1_Nonsense_Mutation_p.E14*	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	14					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	p.E14Q(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						TTGAACTCCTCGTCAGCATAT	0.488000													15	167					6.94344e-10	7.72458e-10	1	1	0
SLC29A1	2030	broad.mit.edu	37	6	44197677	44197677	+	Silent	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr6:44197677G>A	ENST00000393841.1	+	6	839	c.348G>A	c.(346-348)ctG>ctA	p.L116L	SLC29A1_ENST00000371755.3_Silent_p.L116L|SLC29A1_ENST00000393844.1_Silent_p.L116L|SLC29A1_ENST00000371713.1_Silent_p.L116L|SLC29A1_ENST00000313248.7_Silent_p.L195L|SLC29A1_ENST00000371731.1_Silent_p.L116L|SLC29A1_ENST00000371724.1_Silent_p.L116L|SLC29A1_ENST00000371740.5_Silent_p.L116L|SLC29A1_ENST00000371708.1_Silent_p.L116L|SLC29A1_ENST00000427851.2_Silent_p.L116L|SLC29A1_ENST00000472176.1_3'UTR	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	116					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	TGGGCAGCCTGGTGGCCATCC	0.602000													5	31					0	0	1	0	0
CORO2B	10391	broad.mit.edu	37	15	69011861	69011861	+	Silent	SNP	A	A	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr15:69011861A>G	ENST00000543950.1	+	11	1620	c.1266A>G	c.(1264-1266)ttA>ttG	p.L422L	CORO2B_ENST00000566799.1_Silent_p.L427L|CORO2B_ENST00000540068.1_Silent_p.L422L|CORO2B_ENST00000261861.5_Silent_p.L422L	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	427					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TAGATTTATTAGAAAATGTCC	0.393000													5	60					0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9072189	9072189	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr11:9072189C>T	ENST00000457346.2	-	14	1677	c.1603G>A	c.(1603-1605)Gag>Aag	p.E535K	SCUBE2_ENST00000309263.3_Missense_Mutation_p.E506K|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Intron|SCUBE2_ENST00000520467.1_Missense_Mutation_p.E535K			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	506						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GGAAACAGCTCAGCATTTTTC	0.498000													7	111					0	0	1	0	0
ZNF721	170960	broad.mit.edu	37	4	438025	438025	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr4:438025C>G	ENST00000338977.5	-	2	243	c.195G>C	c.(193-195)caG>caC	p.Q65H	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.Q77H|ZNF721_ENST00000506646.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						ATATTTTGCTCTGAGTATTTG	0.294000													9	81					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871674	51871674	+	Silent	SNP	T	T	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr20:51871674T>A	ENST00000371497.5	+	2	2564	c.1677T>A	c.(1675-1677)ccT>ccA	p.P559P	TSHZ2_ENST00000329613.6_Silent_p.P556P|TSHZ2_ENST00000603338.2_Silent_p.P556P	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	559					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CGCCTTTGCCTATGGGATCCC	0.582000													4	87					0	0	1	0	0
C2orf57	165100	broad.mit.edu	37	2	232457829	232457829	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr2:232457829C>T	ENST00000313965.2	+	1	255	c.167C>T	c.(166-168)aCg>aTg	p.T56M		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	56										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		TCCTTCAAGACGGCCACCCCC	0.542000													10	84					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144895519	144895519	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr8:144895519C>G	ENST00000356994.2	-	6	535	c.529G>C	c.(529-531)Gaa>Caa	p.E177Q	SCRIB_ENST00000377533.3_Missense_Mutation_p.E96Q|SCRIB_ENST00000320476.3_Missense_Mutation_p.E177Q	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	177	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TCCAGCTGTTCCAGCTTGACC	0.642000													14	54					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23557529	23557529	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr19:23557529G>C	ENST00000300619.7	-	2	273	c.68C>G	c.(67-69)tCt>tGt	p.S23C	ZNF91_ENST00000397082.2_Missense_Mutation_p.S23C|ZNF91_ENST00000599743.1_Missense_Mutation_p.S23C	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	23	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CTCCTCCGGAGAGAATTCTAT	0.423000													5	153					0	0	1	0	0
CBLN2	147381	broad.mit.edu	37	18	70205984	70205984	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr18:70205984G>T	ENST00000269503.4	-	4	1154	c.381C>A	c.(379-381)caC>caA	p.H127Q	CBLN2_ENST00000585159.1_Missense_Mutation_p.H127Q|CBLN2_ENST00000581073.1_Missense_Mutation_p.H13Q|CBLN2_ENST00000584764.1_Missense_Mutation_p.H11Q|CBLN2_ENST00000583651.1_5'UTR	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	127	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CAAGATCAAAGTGGTTGCCAA	0.428000													9	60					0.000274275	0.000290601	1	1	0
DMXL1	1657	broad.mit.edu	37	5	118484935	118484935	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr5:118484935A>G	ENST00000311085.8	+	18	3493	c.3413A>G	c.(3412-3414)cAt>cGt	p.H1138R	DMXL1_ENST00000539542.1_Missense_Mutation_p.H1138R	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1138										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AACACAAAGCATTTAGTTCAC	0.363000													10	78					0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16641716	16641716	+	Silent	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr1:16641716C>T	ENST00000375592.3	-	2	414	c.198G>A	c.(196-198)caG>caA	p.Q66Q	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	66	F-box.									autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TTTTGTGTTCCTGATACGGTG	0.438000													12	107					0	0	1	0	0
IRAK1BP1	134728	broad.mit.edu	37	6	79607896	79607896	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr6:79607896G>C	ENST00000369940.2	+	4	733	c.628G>C	c.(628-630)Gaa>Caa	p.E210Q	IRAK1BP1_ENST00000607739.1_Missense_Mutation_p.E123Q	NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	210					I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		AGAAACAAAAGAATGGGAAGG	0.388000													5	34					0	0	1	0	0
VAV2	7410	broad.mit.edu	37	9	136804281	136804281	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr9:136804281T>A	ENST00000371851.1	-	2	590	c.265A>T	c.(265-267)Agg>Tgg	p.R89W	VAV2_ENST00000486113.1_5'UTR|VAV2_ENST00000406606.3_Missense_Mutation_p.R89W|VAV2_ENST00000371850.3_Missense_Mutation_p.R89W			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	89	CH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TCGCTGTTCCTTAATCCAAAT	0.473000													4	98					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32802653	32802653	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr13:32802653C>G	ENST00000380250.3	+	40	5763	c.5267C>G	c.(5266-5268)tCa>tGa	p.S1756*		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1756					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGGCTTAGTTCAAGCTCCACC	0.552000													12	155					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62198524	62198524	+	Silent	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr20:62198524G>A	ENST00000467148.1	-	6	2256	c.2187C>T	c.(2185-2187)caC>caT	p.H729H	HELZ2_ENST00000427522.2_Silent_p.H160H	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GCGCCACCTCGTGAGTCTCCT	0.657000													10	60					0	0	1	0	0
ZNF322	79692	broad.mit.edu	37	6	26637599	26637599	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr6:26637599C>G	ENST00000415922.2	-	4	1828	c.1183G>C	c.(1183-1185)Gcg>Ccg	p.A395P	ZNF322_ENST00000471278.1_Missense_Mutation_p.A395P	NM_024639.4	NP_078915.2	Q6U7Q0	Z322A_HUMAN	zinc finger protein 322	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding										GCTTCTGACGCATGGGGAGGG	0.413000													10	191					0	0	1	0	0
LRSAM1	90678	broad.mit.edu	37	9	130216823	130216823	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr9:130216823G>T	ENST00000323301.4	+	2	621	c.17G>T	c.(16-18)cGg>cTg	p.R6L	LRSAM1_ENST00000373322.1_Missense_Mutation_p.R6L|LRSAM1_ENST00000373324.4_Missense_Mutation_p.R6L|LRSAM1_ENST00000300417.6_Missense_Mutation_p.R6L	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	6					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						CTCTTCTTCCGGAAGCGGAAA	0.552000													4	34					0.014758	0.0151553	1	1	0
CSNK1D	1453	broad.mit.edu	37	17	80231196	80231196	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr17:80231196C>G	ENST00000314028.6	-	1	411	c.62G>C	c.(61-63)gGa>gCa	p.G21A	CSNK1D_ENST00000392334.2_Missense_Mutation_p.G21A|CSNK1D_ENST00000398519.5_Missense_Mutation_p.G21A	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	21	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			ATAGATGTCTCCGAAGGAGCC	0.726000													3	14					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158257809	158257809	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr4:158257809G>C	ENST00000296526.7	+	11	2079	c.1754G>C	c.(1753-1755)aGt>aCt	p.S585T	GRIA2_ENST00000449365.1_Missense_Mutation_p.S538T|GRIA2_ENST00000393815.2_Missense_Mutation_p.S538T|GRIA2_ENST00000507898.1_Missense_Mutation_p.S538T|GRIA2_ENST00000264426.9_Missense_Mutation_p.S585T	NM_000826.3	NP_000817	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	585					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GAAACACAAAGTAGTGAATCA	0.423000													8	110					0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24231668	24231668	+	Silent	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr3:24231668C>T	ENST00000396671.2	-	5	528	c.180G>A	c.(178-180)caG>caA	p.Q60Q	THRB_ENST00000416420.1_Silent_p.Q60Q|THRB_ENST00000356447.4_Silent_p.Q60Q	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	60	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TCCAAGTGGTCTGGATGAGAT	0.488000													10	125					0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102494944	102494944	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr5:102494944C>T	ENST00000321521.9	+	17	2405	c.1832C>T	c.(1831-1833)tCt>tTt	p.S611F	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.S611F|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.S611F			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	611					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GATAGTGACTCTCTGAGCAGT	0.418000													7	97					0	0	1	0	0
E2F1	1869	broad.mit.edu	37	20	32268212	32268212	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr20:32268212C>G	ENST00000343380.5	-	2	411	c.272G>C	c.(271-273)aGg>aCg	p.R91T		NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	91	Cyclin A/CDK2 binding.			KRRLDLETDHQYLAESSGPARGR -> RTPGTPRRQRRLCP PRRPGRAPC (in Ref. 8; AAD14150).	apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						CAGGTCCAGCCTCCGCTTCAC	0.622000													3	45					0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10956418	10956418	+	Silent	SNP	T	T	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr6:10956418T>A	ENST00000283141.6	+	25	2402	c.2106T>A	c.(2104-2106)ggT>ggA	p.G702G		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	702						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ACTTGAACGGTTCTGCCATTC	0.348000													4	61					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325259	79325259	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr9:79325259A>G	ENST00000428286.1	-	8	2054	c.854T>C	c.(853-855)aTg>aCg	p.M285T	PRUNE2_ENST00000376718.3_Missense_Mutation_p.M644T			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	644					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGGTGGCCCCATGTGACCTGT	0.488000													8	131					0	0	1	0	0
GPR17	2840	broad.mit.edu	37	2	128409176	128409176	+	Silent	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr2:128409176C>T	ENST00000544369.1	+	4	1562	c.951C>T	c.(949-951)aaC>aaT	p.N317N	GPR17_ENST00000393018.3_Silent_p.N317N|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000272644.3_Silent_p.N317N|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000410011.1_Intron	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	317						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CCAGCCTCAACGGGGCACTCG	0.642000													8	57					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562366	140562366	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr5:140562366A>C	ENST00000361016.2	+	1	1387	c.232A>C	c.(232-234)Aag>Cag	p.K78Q		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		78	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGCAGCTCAAGGCTCAAAC	0.493000													5	47					0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50550224	50550224	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr19:50550224T>G	ENST00000595661.1	+	6	3019	c.2524T>G	c.(2524-2526)Tat>Gat	p.Y842D	ZNF473_ENST00000270617.3_Missense_Mutation_p.Y842D|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.Y830D|ZNF473_ENST00000391821.2_Missense_Mutation_p.Y842D|ZNF473_ENST00000601364.1_Intron			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	842					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GGAGACACTTTATCAGTGTCA	0.532000											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	80					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130897307	130897307	+	Missense_Mutation	SNP	C	C	A	rs148857930	byFrequency	TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr12:130897307C>A	ENST00000261655.4	-	15	2841	c.2678G>T	c.(2677-2679)gGa>gTa	p.G893V		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	893	SH3 2.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ACGGTAGAATCCATCAGCGTC	0.443000													12	30					0.00136819	0.00143258	1	1	0
GMPPB	29925	broad.mit.edu	37	3	49759438	49759438	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr3:49759438T>G	ENST00000480687.1	-	9	1027	c.911A>C	c.(910-912)gAg>gCg	p.E304A	AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308375.6_Missense_Mutation_p.E304A|GMPPB_ENST00000308388.6_Missense_Mutation_p.E304A			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	304					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AATGCAGGACTCAAGCCAGGA	0.667000													4	47					0	0	1	0	0
GP9	2815	broad.mit.edu	37	3	128780823	128780823	+	Missense_Mutation	SNP	G	G	A	rs137994346		TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr3:128780823G>A	ENST00000307395.4	+	3	463	c.241G>A	c.(241-243)Gat>Aat	p.D81N		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	81					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding			NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	GCAGACCCTCGATGTGACGCA	0.687000													11	50					0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78290635	78290635	+	Missense_Mutation	SNP	C	C	T	rs117285325	by1000genomes	TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr15:78290635C>T	ENST00000409931.3	-	13	2778	c.2707G>A	c.(2707-2709)Gac>Aac	p.D903N	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q|TBC1D2B_ENST00000492078.1_5'UTR			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	0						intracellular	protein binding|Rab GTPase activator activity	p.D903N(3)|p.R920Q(1)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTAGGCGCGTCGGTTCCGGAT	0.617000													3	16					0	0	1	0	0
LOC286238	286238	broad.mit.edu	37	9	91262464	91262464	+	RNA	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr9:91262464C>T	ENST00000418343.2	-	0	287																											TATCATCTCTCCTGTTTTGTA	0.433000													5	81					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156517	22156517	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr19:22156517A>C	ENST00000397126.4	-	4	1467	c.1319T>G	c.(1318-1320)cTt>cGt	p.L440R	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATGTTCCATAAGGTTTGAGGA	0.378000													6	110					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785391	111785391	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr12:111785391C>A	ENST00000261726.6	+	22	3877	c.3723C>A	c.(3721-3723)agC>agA	p.S1241R		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1241						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TTGATCCAAGCGGGGGTCCTG	0.662000													26	65					2.44723e-14	2.76869e-14	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13885125	13885125	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr5:13885125G>C	ENST00000265104.4	-	19	3060	c.2956C>G	c.(2956-2958)Cat>Gat	p.H986D	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	986	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGAGAGGAATGAATACGTTTG	0.443000									Kartagener syndrome				5	122					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77386148	77386148	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr11:77386148C>G	ENST00000308488.6	-	14	3797	c.3495G>C	c.(3493-3495)aaG>aaC	p.K1165N	RSF1_ENST00000360355.2_Missense_Mutation_p.K1134N|RSF1_ENST00000480887.1_Missense_Mutation_p.K913N			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1165	Arg-rich.				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TCTTTGGGGTCTTTCTTCGCA	0.453000													6	90					0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57004431	57004431	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr11:57004431C>A	ENST00000606794.1	-	1	244	c.48G>T	c.(46-48)caG>caT	p.Q16H		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	16						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CACACTCAGACTGGTTGTCTG	0.587000													11	113					6.42651e-13	7.24e-13	1	1	0
FAM179A	165186	broad.mit.edu	37	2	29274839	29274839	+	Silent	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr2:29274839C>G	ENST00000379558.4	+	20	3291	c.2940C>G	c.(2938-2940)ctC>ctG	p.L980L	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Silent_p.L925L	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	980							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGCACGTCCTCAAGACGCTCC	0.637000													4	15					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25009316	25009316	+	Silent	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr13:25009316C>T	ENST00000381989.3	-	31	4068	c.3963G>A	c.(3961-3963)ccG>ccA	p.P1321P		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1321					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AACCAACGGCCGGAGCCAAAA	0.483000													12	77					0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5564656	5564656	+	Silent	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr4:5564656C>T	ENST00000310917.2	-	22	4337	c.3606G>A	c.(3604-3606)gaG>gaA	p.E1202E	EVC2_ENST00000344408.5_Silent_p.E1282E|EVC2_ENST00000344938.1_Intron	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1282						integral to membrane		p.E1282D(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GCAGTGAGATCTCTGGCTCCT	0.483000													12	168					0	0	1	0	0
FAM65A	79567	broad.mit.edu	37	16	67572595	67572595	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr16:67572595C>T	ENST00000540839.3	+	4	405	c.185C>T	c.(184-186)cCg>cTg	p.P62L	CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000566522.1_Intron|FAM65A_ENST00000422602.2_Missense_Mutation_p.P62L|FAM65A_ENST00000428437.2_Missense_Mutation_p.P56L|FAM65A_ENST00000379312.3_Missense_Mutation_p.P46L|FAM65A_ENST00000042381.4_Missense_Mutation_p.P42L			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	46						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GTCTTCAGCCCGCCGGGGCCC	0.677000													3	78					0	0	1	0	0
LPL	4023	broad.mit.edu	37	8	19805732	19805732	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr8:19805732A>T	ENST00000311322.8	+	2	600	c.130A>T	c.(130-132)Agg>Tgg	p.R44W	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	44					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	ATTTGCCCTAAGGACCCCTGA	0.438000													7	112					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45431921	45431921	+	Silent	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr14:45431921C>G	ENST00000361462.2	+	1	480	c.297C>G	c.(295-297)ctC>ctG	p.L99L	FAM179B_ENST00000382233.2_Silent_p.L99L|FAM179B_ENST00000361577.3_Silent_p.L99L			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	99							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ACACTCGGCTCCTTCAACTCC	0.642000													6	88					0	0	1	0	0
FBRS	64319	broad.mit.edu	37	16	30680914	30680914	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr16:30680914C>T	ENST00000356166.6	+	18	3979	c.2891C>T	c.(2890-2892)cCc>cTc	p.P964L	FBRS_ENST00000395073.2_Intron|FBRS_ENST00000568722.1_Missense_Mutation_p.P356L|FBRS_ENST00000287468.5_Missense_Mutation_p.P444L			Q9HAH7	FBRS_HUMAN	fibrosin	444										ovary(1)	1			Colorectal(24;0.103)			GTGCCCGCCCCCCGGCCCAGT	0.701000													4	80					0	0	1	0	0
COQ3	51805	broad.mit.edu	37	6	99828202	99828202	+	Silent	SNP	T	T	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr6:99828202T>C	ENST00000254759.3	-	3	273	c.249A>G	c.(247-249)agA>agG	p.R83R	COQ3_ENST00000479163.1_5'UTR|COQ3_ENST00000369242.1_5'UTR	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	83					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		TACTGTACAGTCTCGCCCAAG	0.428000													4	38					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43251345	43251345	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr6:43251345C>T	ENST00000259750.4	+	14	2950	c.2867C>T	c.(2866-2868)gCt>gTt	p.A956V		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	956						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GAGTTCAGCGCTGGGGGCGAG	0.627000													9	57					0	0	1	0	0
FCHSD2	9873	broad.mit.edu	37	11	72726931	72726931	+	Splice_Site	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr11:72726931C>G	ENST00000409314.1	-	4	334		c.e4-1		FCHSD2_ENST00000409853.1_Splice_Site|FCHSD2_ENST00000409418.4_Splice_Site|FCHSD2_ENST00000458644.2_Splice_Site|FCHSD2_ENST00000311172.7_Splice_Site			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2								protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TCTGCATACCCTGttaaaaaa	0.313000													3	20					0	0	1	0	0
CYP2E1	1571	broad.mit.edu	37	10	135352302	135352302	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr10:135352302G>T	ENST00000463117.2	+	11	1588	c.1316G>T	c.(1315-1317)gGa>gTa	p.G439V	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.G439V			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	439					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	p.G439V(1)		NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GTGTGTGCTGGAGAAGGCCTG	0.468000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				25	153					1.06801e-11	1.19815e-11	1	1	0
BRCA1	672	broad.mit.edu	37	17	41244457	41244457	+	Missense_Mutation	SNP	T	T	C	rs80357647		TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr17:41244457T>C	ENST00000309486.4	-	9	3230	c.2203A>G	c.(2203-2205)Att>Gtt	p.I735V	BRCA1_ENST00000357654.3_Missense_Mutation_p.I1031V|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.I984V|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.I1031V|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.I1031V|BRCA1_ENST00000354071.3_Missense_Mutation_p.I1031V	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1031					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTTTCTCTAATGTTATTACGG	0.368000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			11	160					0	0	1	0	0
VAPB	9217	broad.mit.edu	37	20	57014066	57014066	+	Silent	SNP	A	A	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr20:57014066A>T	ENST00000475243.1	+	4	719	c.381A>T	c.(379-381)gcA>gcT	p.A127A	VAPB_ENST00000395802.3_Intron|VAPB_ENST00000265619.2_3'UTR	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	127					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)			AATTGCCAGCAGAGAATGATA	0.299000													15	108					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558398	140558398	+	Silent	SNP	G	G	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr5:140558398G>C	ENST00000239444.2	+	1	1028	c.783G>C	c.(781-783)ctG>ctC	p.L261L		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		261	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAGCTTCCTGGTTGTGAAGG	0.438000													11	172					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158850771	158850771	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr6:158850771A>G	ENST00000367097.3	+	3	1742	c.385A>G	c.(385-387)Agt>Ggt	p.S129G	TULP4_ENST00000367094.2_Missense_Mutation_p.S129G	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	129					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCCCAAGGTGAGTGATTTCAC	0.408000													11	162					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135323399	135323399	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr7:135323399C>T	ENST00000285968.6	+	38	5386	c.5360C>T	c.(5359-5361)tCa>tTa	p.S1787L		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1787					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CCTAGCCTTTCAGAAACAGTT	0.423000													7	143					0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77297720	77297720	+	Splice_Site	SNP	T	T	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr14:77297720T>A	ENST00000393774.3	+	3	514		c.e3+2		C14orf166B_ENST00000460005.1_Splice_Site|C14orf166B_ENST00000450042.2_Splice_Site	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B											breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GCCCTGGTGGTGAGCATGCTA	0.577000													4	46					0	0	1	0	0
TMX4	56255	broad.mit.edu	37	20	7980484	7980484	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr20:7980484C>A	ENST00000246024.2	-	4	577	c.362G>T	c.(361-363)cGt>cTt	p.R121L	TMX4_ENST00000530935.1_5'UTR	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	121	Thioredoxin.				cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						GCCACGATAACGGCGGAATAT	0.383000													3	54					0.00909568	0.00937663	1	1	0
ENGASE	64772	broad.mit.edu	37	17	77079895	77079895	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr17:77079895T>G	ENST00000579016.1	+	10	1304	c.1304T>G	c.(1303-1305)tTg>tGg	p.L435W	ENGASE_ENST00000584568.1_3'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	435						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						ATCCAGCCCTTGTTTGGAGAA	0.652000													5	80					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49219061	49219061	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr20:49219061C>G	ENST00000327979.2	-	13	1606	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	FAM65C_ENST00000535356.1_Missense_Mutation_p.E403Q|FAM65C_ENST00000045083.2_Missense_Mutation_p.E399Q			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	399										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCAGGCAGCTCCTGACTCTGG	0.632000													11	61					0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49643021	49643021	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr19:49643021G>C	ENST00000334186.4	+	17	2522	c.2173G>C	c.(2173-2175)Gag>Cag	p.E725Q	PPFIA3_ENST00000602351.1_Missense_Mutation_p.E725Q	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	725						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TGCCCGTCTTGAGAGAATGAC	0.647000													11	37					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158647621	158647621	+	Silent	SNP	A	A	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr1:158647621A>G	ENST00000368147.4	-	7	996	c.816T>C	c.(814-816)gaT>gaC	p.D272D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTCAGTCACATCCCTGCAGT	0.488000													6	39					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155098558	155098558	+	Silent	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr2:155098558C>G	ENST00000392825.3	+	5	894	c.327C>G	c.(325-327)gtC>gtG	p.V109V	GALNT13_ENST00000409237.1_Silent_p.V109V	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	109						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AGACAAAAGTCTACCCTGATG	0.328000													3	52					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88768406	88768406	+	RNA	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr10:88768406G>A	ENST00000444431.1	+	0	3006				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										AAAGCGAAGTGGGAAATGGCT	0.473000													40	335					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120572181	120572181	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr12:120572181C>A	ENST00000300648.6	-	53	7243	c.7231G>T	c.(7231-7233)Gtg>Ttg	p.V2411L		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2411					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCTGAATCACAAACCTCAGG	0.622000													4	90					3.59834e-05	3.90551e-05	1	1	0
ZNF334	55713	broad.mit.edu	37	20	45130360	45130360	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr20:45130360A>G	ENST00000457685.2	-	6	2827	c.1504T>C	c.(1504-1506)Tgg>Cgg	p.W502R	ZNF334_ENST00000593880.1_Missense_Mutation_p.W563R|ZNF334_ENST00000347606.4_Missense_Mutation_p.W540R			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	540					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GGTCTCTCCCATATAGTTCTC	0.448000													11	199					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34666944	34666944	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr10:34666944C>A	ENST00000374789.3	-	10	1815	c.1490G>T	c.(1489-1491)gGg>gTg	p.G497V	PARD3_ENST00000374788.3_Missense_Mutation_p.G497V|PARD3_ENST00000374794.3_Missense_Mutation_p.G453V|PARD3_ENST00000350537.4_Missense_Mutation_p.G497V|PARD3_ENST00000346874.4_Missense_Mutation_p.G497V|PARD3_ENST00000545260.1_Missense_Mutation_p.G453V|PARD3_ENST00000374790.3_Missense_Mutation_p.G453V|PARD3_ENST00000374776.1_Missense_Mutation_p.G497V|PARD3_ENST00000340077.5_Missense_Mutation_p.G497V|PARD3_ENST00000544292.1_Missense_Mutation_p.G227V|PARD3_ENST00000374773.1_Missense_Mutation_p.G497V|PARD3_ENST00000545693.1_Missense_Mutation_p.G497V	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	497	PDZ 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				AATGGCCGCCCCCCGGGGGAG	0.478000													8	118					0.000157383	0.000168085	1	1	0
REG1A	5967	broad.mit.edu	37	2	79349237	79349237	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr2:79349237C>T	ENST00000233735.1	+	4	410	c.307C>T	c.(307-309)Cat>Tat	p.H103Y		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	103	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GATTGGCCTCCATGACCCCAA	0.502000													9	74					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168408	142168408	+	RNA	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr7:142168408C>T	ENST00000454561.2	-	0	515																											GATACAGGGCCGAGTCGTCCA	0.512000													9	140					0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167512415	167512415	+	Silent	SNP	T	T	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr3:167512415T>C	ENST00000295777.5	+	5	1115	c.684T>C	c.(682-684)ttT>ttC	p.F228F	SERPINI1_ENST00000446050.2_Silent_p.F228F	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	228					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TAGGGGAATTTAGTGATGGCT	0.398000													9	52					0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7682263	7682263	+	Silent	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr19:7682263C>T	ENST00000446248.2	+	17	3446	c.3345C>T	c.(3343-3345)cgC>cgT	p.R1115R	CAMSAP3_ENST00000160298.4_Silent_p.R1088R	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1088	CKK.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CTGGAAGCCGCGAACGGGACT	0.632000													4	62					0	0	1	0	0
RASA3	22821	broad.mit.edu	37	13	114789775	114789775	+	Silent	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr13:114789775G>A	ENST00000334062.7	-	8	781	c.660C>T	c.(658-660)gaC>gaT	p.D220D	RASA3_ENST00000389544.4_Silent_p.D188D|RASA3_ENST00000542651.1_3'UTR	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	220	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GCTTGTCCACGTCTTCCTCCT	0.527000													63	311					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117450860	117450860	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr7:117450860T>C	ENST00000160373.3	-	3	464	c.373A>G	c.(373-375)Atg>Gtg	p.M125V		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	125										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGTGCGGACATCCTTTCTTGC	0.498000													15	222					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30325696	30325696	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr21:30325696C>A	ENST00000389194.2	-	17	3225	c.3220G>T	c.(3220-3222)Gca>Tca	p.A1074S	LTN1_ENST00000361371.5_Missense_Mutation_p.A1028S	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1028							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						AGCAGTTCTGCAACTAAAAGA	0.348000													4	92					1	1	1	1	0
TTC12	54970	broad.mit.edu	37	11	113235702	113235702	+	Silent	SNP	T	T	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr11:113235702T>G	ENST00000529221.1	+	21	2067	c.1962T>G	c.(1960-1962)ctT>ctG	p.L654L	TTC12_ENST00000314756.3_Silent_p.L654L|TTC12_ENST00000483239.2_Silent_p.L660L|TTC12_ENST00000393020.1_Intron	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	654							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TGTTAAAGCTTGCAGGCAGTG	0.582000													3	67					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11096952	11096952	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr19:11096952G>T	ENST00000358026.2	+	4	727	c.443G>T	c.(442-444)gGg>gTg	p.G148V	SMARCA4_ENST00000344626.4_Missense_Mutation_p.G148V|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G148V|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G148V|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G148V|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G148V|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G148V|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G148V|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G148V	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	148	Necessary for interaction with SS18L1/CREST (By similarity).				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ATGTCTTCCGGGCCAGGAGGT	0.652000			"""F, N, Mis"""		NSCLC								3	36					0.115264	0.116134	1	1	0
OR4M2	390538	broad.mit.edu	37	15	22369239	22369239	+	Silent	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr15:22369239C>T	ENST00000332663.2	+	1	762	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGCCTTCCTTCTGGCCTTGTT	0.478000													15	237					0	0	1	0	0
SNAPC3	6619	broad.mit.edu	37	9	15453176	15453176	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr9:15453176A>G	ENST00000380821.3	+	7	1129	c.953A>G	c.(952-954)gAa>gGa	p.E318G	SNAPC3_ENST00000380799.1_Missense_Mutation_p.E115G	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	318					regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		GGAGACTGTGAACATGTCATT	0.348000													23	162					0	0	1	0	0
TMTC2	160335	broad.mit.edu	37	12	83289626	83289626	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr12:83289626T>G	ENST00000549919.1	+	4	2471	c.666T>G	c.(664-666)atT>atG	p.I222M	TMTC2_ENST00000548305.1_Missense_Mutation_p.I228M|TMTC2_ENST00000321196.3_Missense_Mutation_p.I228M			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	228						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TCCTAAGCATTAGTTTGTTAA	0.428000													5	103					0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183095852	183095852	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr2:183095852C>G	ENST00000435564.1	-	5	672	c.472G>C	c.(472-474)Gat>Cat	p.D158H	PDE1A_ENST00000351439.5_Missense_Mutation_p.D142H|PDE1A_ENST00000358139.2_Missense_Mutation_p.D158H|PDE1A_ENST00000331935.6_Missense_Mutation_p.D158H|PDE1A_ENST00000409365.1_Missense_Mutation_p.D142H|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000456212.1_Missense_Mutation_p.D158H|PDE1A_ENST00000346717.4_Missense_Mutation_p.D124H|PDE1A_ENST00000536095.1_Missense_Mutation_p.D54H|PDE1A_ENST00000410103.1_Missense_Mutation_p.D158H	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	158					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			GACCATTTATCAACATCCTGT	0.323000													8	169					0	0	1	0	0
FEZ1	9638	broad.mit.edu	37	11	125333378	125333378	+	Splice_Site	SNP	A	A	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr11:125333378A>G	ENST00000278919.3	-	4	733		c.e4+1		FEZ1_ENST00000527350.1_Intron	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)						axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		AGATACTTATACCTGATCTGC	0.433000													6	86					0	0	1	0	0
FOXJ2	55810	broad.mit.edu	37	12	8200753	8200753	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr12:8200753A>T	ENST00000162391.3	+	7	2238	c.1093A>T	c.(1093-1095)Atg>Ttg	p.M365L	FOXJ2_ENST00000428177.2_Missense_Mutation_p.M365L	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	365					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TGTAATGGCCATGCATCCACC	0.647000													5	49					0	0	1	0	0
STARD10	10809	broad.mit.edu	37	11	72469644	72469644	+	Silent	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr11:72469644G>A	ENST00000334805.6	-	4	1309	c.390C>T	c.(388-390)gtC>gtT	p.V130V	STARD10_ENST00000543304.1_Silent_p.V130V|STARD10_ENST00000545082.1_Silent_p.V101V|STARD10_ENST00000538536.1_Silent_p.V84V|STARD10_ENST00000538437.1_5'UTR|ARAP1_ENST00000359373.5_Intron	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	StAR-related lipid transfer (START) domain containing 10	130	START.									endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			GGAGGGTGATGACATCACGGT	0.592000													4	35					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50753032	50753032	+	Silent	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr19:50753032C>T	ENST00000440075.2	+	14	1655	c.1608C>T	c.(1606-1608)ctC>ctT	p.L536L	MYH14_ENST00000596571.1_Silent_p.L528L|MYH14_ENST00000262269.8_Silent_p.L536L|MYH14_ENST00000598205.1_Silent_p.L536L|MYH14_ENST00000425460.1_Silent_p.L536L|MYH14_ENST00000376970.2_Silent_p.L528L|MYH14_ENST00000601313.1_Silent_p.L536L			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	528	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGACCTTCCTCGACTTTGGCC	0.622000													32	98					0	0	1	0	0
OSCP1	127700	broad.mit.edu	37	1	36883757	36883757	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr1:36883757T>C	ENST00000356637.5	-	11	1216	c.1153A>G	c.(1153-1155)Atg>Gtg	p.M385V	OSCP1_ENST00000495222.1_5'UTR|OSCP1_ENST00000315643.9_Missense_Mutation_p.M335V|OSCP1_ENST00000433045.2_Missense_Mutation_p.M330V|OSCP1_ENST00000235532.5_Missense_Mutation_p.M375V			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	385					transport	basal plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						TCATCCATCATGGCGAGCAAA	0.597000													3	35					0	0	1	0	0
QRFP	347148	broad.mit.edu	37	9	133768915	133768915	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr9:133768915G>A	ENST00000343079.1	-	1	310	c.311C>T	c.(310-312)gCg>gTg	p.A104V		NM_198180.1	NP_937823.1	P83859	OX26_HUMAN	pyroglutamylated RFamide peptide	104					locomotory behavior|neuropeptide signaling pathway|positive regulation of blood pressure|regulation of feeding behavior	extracellular region	neuropeptide hormone activity|orexigenic neuropeptide QRFP receptor binding			cervix(1)|endometrium(3)|lung(1)|skin(2)	7	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267)		CTTCTCCCCCGCAGCAGGGAG	0.652000													9	135					0	0	1	0	0
FASTKD1	79675	broad.mit.edu	37	2	170394620	170394620	+	Silent	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr2:170394620C>T	ENST00000453153.2	-	11	2323	c.1977G>A	c.(1975-1977)caG>caA	p.Q659Q	FASTKD1_ENST00000453929.2_Intron|FASTKD1_ENST00000495505.1_5'UTR	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	659					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TAAGATGAAACTGGACTCTTG	0.353000													9	168					0	0	1	0	0
TRMT5	57570	broad.mit.edu	37	14	61442276	61442276	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr14:61442276T>C	ENST00000261249.6	-	4	1745	c.1361A>G	c.(1360-1362)aAt>aGt	p.N454S	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	454						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TGGGGCCACATTTCTTACCAG	0.493000													13	70					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718514	142718514	+	Silent	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chrX:142718514C>T	ENST00000381779.4	-	2	636	c.411G>A	c.(409-411)caG>caA	p.Q137Q	SLITRK4_ENST00000338017.4_Silent_p.Q137Q|SLITRK4_ENST00000356928.1_Silent_p.Q137Q	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	137						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGTAGTCAGCCTGGAGATACT	0.388000													4	108					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121498354	121498354	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr11:121498354G>A	ENST00000260197.7	+	47	6584	c.6455G>A	c.(6454-6456)gGg>gAg	p.G2152E	SORL1_ENST00000525532.1_Missense_Mutation_p.G1096E|SORL1_ENST00000527934.1_Missense_Mutation_p.G767E|SORL1_ENST00000532694.1_Missense_Mutation_p.G998E|SORL1_ENST00000534286.1_Missense_Mutation_p.G1062E	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2152					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTGAGCCTGGGGGTGGGGTTT	0.602000													7	95					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125078729	125078729	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr8:125078729T>G	ENST00000522917.1	+	27	3822	c.3616T>G	c.(3616-3618)Tct>Gct	p.S1206A	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.S1206A	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1206						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGCAGATGAATCTGCTGAAAA	0.488000													13	173					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85645708	85645708	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr4:85645708T>A	ENST00000322366.6	-	45	7668	c.7261A>T	c.(7261-7263)Aaa>Taa	p.K2421*	WDFY3_ENST00000295888.4_Nonsense_Mutation_p.K2438*			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2438						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TAGTACTCTTTACTGTCATAA	0.428000													6	87					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72204788	72204788	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr13:72204788C>T	ENST00000305425.4	-	3	1454	c.1032G>A	c.(1030-1032)atG>atA	p.M344I	DACH1_ENST00000359684.2_Missense_Mutation_p.M344I|DACH1_ENST00000313174.7_Missense_Mutation_p.M344I|DACH1_ENST00000354591.4_Intron	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	342	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TTTTCACCTTCATTGCTTcag	0.408000													20	189					0	0	1	0	0
NDUFV2	4729	broad.mit.edu	37	18	9126853	9126853	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr18:9126853G>C	ENST00000400033.1	+	8	730	c.613G>C	c.(613-615)Gaa>Caa	p.E205Q	RP11-21J18.1_ENST00000579126.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000318388.6_Missense_Mutation_p.E202Q|RP11-143J12.2_ENST00000582375.1_RNA			P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	202					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|lung(4)|ovary(1)|stomach(1)	7					NADH(DB00157)	TAAGGATATTGAAGAAATTAT	0.313000													24	135					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77412858	77412858	+	Silent	SNP	A	A	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr11:77412858A>G	ENST00000308488.6	-	6	1718	c.1416T>C	c.(1414-1416)taT>taC	p.Y472Y	RSF1_ENST00000360355.2_Silent_p.Y441Y|RSF1_ENST00000480887.1_Silent_p.Y220Y			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	472					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TAGAGGGGCTATAGCTCTCTT	0.383000													5	87					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89816305	89816305	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr16:89816305C>G	ENST00000389301.3	-	32	3102	c.3072G>C	c.(3070-3072)atG>atC	p.M1024I	FANCA_ENST00000568369.1_Missense_Mutation_p.M1024I	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1024					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	p.M1024fs*4(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GGTCAGCTACCATCTCCTGAA	0.607000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				4	56					0	0	1	0	0
PLA2G4B	100137049	broad.mit.edu	37	15	42137934	42137934	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr15:42137934A>G	ENST00000542534.2	+	20	2189	c.2149A>G	c.(2149-2151)Atg>Gtg	p.M717V	PLA2G4B_ENST00000458483.1_Missense_Mutation_p.M486V|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.M486V|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.M717V|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.M717V	NM_005090.3	NP_005081.1			phospholipase A2, group IVB (cytosolic)														all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		GGGGCAGCTGATGAAGAGGCT	0.597000													3	53					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49219081	49219081	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr20:49219081C>G	ENST00000327979.2	-	13	1586	c.1175G>C	c.(1174-1176)aGc>aCc	p.S392T	FAM65C_ENST00000535356.1_Missense_Mutation_p.S396T|FAM65C_ENST00000045083.2_Missense_Mutation_p.S392T			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	392										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTTCTTAGGCTGGGACCCCG	0.627000													11	61					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065380	23065380	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr20:23065380C>G	ENST00000246006.4	-	1	1597	c.1450G>C	c.(1450-1452)Gag>Cag	p.E484Q		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	484					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCTTTGTCCTCCTCATCGGGG	0.657000													3	58					0	0	1	0	0
CLCN3	1182	broad.mit.edu	37	4	170628216	170628216	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr4:170628216C>T	ENST00000513761.1	+	11	2507	c.1948C>T	c.(1948-1950)Cat>Tat	p.H650Y	CLCN3_ENST00000504131.2_Missense_Mutation_p.H633Y|CLCN3_ENST00000347613.4_Missense_Mutation_p.H650Y|CLCN3_ENST00000360642.3_Missense_Mutation_p.H623Y	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	650					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		AGAATTCACTCATACCACCCT	0.443000													10	71					0	0	1	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45971219	45971219	+	Silent	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr21:45971219G>A	ENST00000391621.1	-	1	169	c.123C>T	c.(121-123)ccC>ccT	p.P41P	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	41	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						GGGTCAGGCAGGGGGCTGGGG	0.692000													5	70					0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44153382	44153382	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr7:44153382G>A	ENST00000223357.3	+	21	3304	c.2999G>A	c.(2998-3000)cGg>cAg	p.R1000Q	AEBP1_ENST00000450684.2_Missense_Mutation_p.R575Q	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1000	Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						AACGGGAACCGGCCTATCCCA	0.607000													6	118					0	0	1	0	0
RBP5	83758	broad.mit.edu	37	12	7281378	7281378	+	Translation_Start_Site	SNP	G	G	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr12:7281378G>C	ENST00000266560.3	-	0	160				RBP5_ENST00000542370.1_De_novo_Start_InFrame	NM_031491.2	NP_113679.1	P82980	RET5_HUMAN	retinol binding protein 5, cellular							cytoplasm	retinal binding|retinol binding|transporter activity			autonomic_ganglia(1)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)	10					Vitamin A(DB00162)	GCATTGTGTGGATGAAGGTTT	0.562000													3	6					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76393544	76393544	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr13:76393544A>T	ENST00000357063.3	+	14	3496	c.2236A>T	c.(2236-2238)Aaa>Taa	p.K746*	LMO7_ENST00000321797.8_Nonsense_Mutation_p.K461*|LMO7_ENST00000377534.3_Nonsense_Mutation_p.K746*|LMO7_ENST00000341547.4_Nonsense_Mutation_p.K412*|LMO7_ENST00000465261.2_Nonsense_Mutation_p.K461*|LMO7_ENST00000526202.1_Nonsense_Mutation_p.K311*			Q8WWI1	LMO7_HUMAN	LIM domain 7	746						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TGCAAAATGGAAAGATCGTCG	0.398000													4	73					0	0	1	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	45999860	45999860	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr21:45999860C>A	ENST00000400372.1	-	1	621	c.596G>T	c.(595-597)tGc>tTc	p.C199F	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	199	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						CTGCTGGCAGCATGAAGTGGA	0.637000													9	218					3.86212e-05	4.17484e-05	1	1	0
SLC6A14	11254	broad.mit.edu	37	X	115577926	115577926	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chrX:115577926T>G	ENST00000371900.4	+	7	897	c.809T>G	c.(808-810)cTt>cGt	p.L270R		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	270					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TTTACAGCTCTTTTCCCCTAT	0.348000													10	93					0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112924403	112924403	+	Silent	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr9:112924403G>A	ENST00000374530.3	+	10	3384	c.3204G>A	c.(3202-3204)gtG>gtA	p.V1068V	AKAP2_ENST00000510514.5_Intron|AKAP2_ENST00000259318.7_Intron|AKAP2_ENST00000482335.1_Intron|AKAP2_ENST00000374525.1_Intron|AKAP2_ENST00000555236.1_Silent_p.V1068V|PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000434623.2_Silent_p.V926V	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		827							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CTTGCAAGGTGACTTCCGAGG	0.458000													14	199					0	0	1	0	0
LONP2	83752	broad.mit.edu	37	16	48295472	48295472	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr16:48295472T>G	ENST00000285737.4	+	5	954	c.861T>G	c.(859-861)caT>caG	p.H287Q	LONP2_ENST00000535754.1_Missense_Mutation_p.H243Q	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	287					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGCAGGCCCATAAAGTCTGTG	0.348000													5	77					0	0	1	0	0
EPC2	26122	broad.mit.edu	37	2	149447835	149447835	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr2:149447835A>C	ENST00000258484.6	+	2	240	c.206A>C	c.(205-207)aAa>aCa	p.K69T	EPC2_ENST00000409654.1_Missense_Mutation_p.K69T	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	69					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AGAGAAAAAAAAGAGAGTATG	0.363000													3	92					0	0	1	0	0
USP22	23326	broad.mit.edu	37	17	20931928	20931928	+	Silent	SNP	G	G	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr17:20931928G>C	ENST00000261497.4	-	2	434	c.231C>G	c.(229-231)ctC>ctG	p.L77L	USP22_ENST00000537526.2_Silent_p.L65L|USP22_ENST00000455117.2_5'UTR	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	77					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						AGACACAGTAGAGGCAGGAAT	0.537000													7	66					0	0	1	0	0
HINFP	25988	broad.mit.edu	37	11	119002618	119002618	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr11:119002618G>A	ENST00000350777.2	+	5	665	c.602G>A	c.(601-603)tGc>tAc	p.C201Y	HINFP_ENST00000527410.1_Missense_Mutation_p.C201Y|HINFP_ENST00000527354.1_3'UTR	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	201					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GTGGTAGCCTGCCCCACCTGT	0.547000													6	79					0	0	1	0	0
SMARCC1	6599	broad.mit.edu	37	3	47734738	47734738	+	Silent	SNP	C	C	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr3:47734738C>A	ENST00000254480.5	-	12	1337	c.1218G>T	c.(1216-1218)gcG>gcT	p.A406A	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	406					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TACCTAGATCCGCTACAGTTC	0.353000													8	96					5.68852e-11	6.35496e-11	1	1	0
PRRT2	112476	broad.mit.edu	37	16	29825231	29825231	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr16:29825231G>T	ENST00000300797.6	+	2	1030	c.856G>T	c.(856-858)Gtg>Ttg	p.V286L	PRRT2_ENST00000358758.7_Missense_Mutation_p.V286L|PRRT2_ENST00000567659.1_Missense_Mutation_p.V286L|AC009133.20_ENST00000569039.1_RNA			Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	286					response to biotic stimulus	integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						TGTCAACATCGTGGCCTTCGC	0.622000													5	77					0.000602214	0.000635539	1	1	0
PLXNA4	91584	broad.mit.edu	37	7	131853320	131853320	+	Silent	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr7:131853320G>A	ENST00000359827.3	-	22	4991	c.4029C>T	c.(4027-4029)taC>taT	p.Y1343Y	PLXNA4_ENST00000321063.4_Silent_p.Y1343Y			Q9HCM2	PLXA4_HUMAN	plexin A4	1343						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTCCTGCCGGTAGCCCGGGA	0.597000													3	25					0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144809077	144809077	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr8:144809077G>C	ENST00000388913.3	-	5	2679	c.2554C>G	c.(2554-2556)Ctg>Gtg	p.L852V		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	852					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCCAGCGGCAGAGGGCTGTCC	0.682000													5	19					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121258411	121258411	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr3:121258411T>G	ENST00000264233.5	-	4	628	c.500A>C	c.(499-501)aAa>aCa	p.K167T		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	167	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ACCGTCTACTTTTATTCCTAC	0.393000								DNA polymerases (catalytic subunits)					4	85					0	0	1	0	0
NDUFA10	4705	broad.mit.edu	37	2	240929491	240929491	+	Splice_Site	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr2:240929491C>G	ENST00000252711.2	-	9	1099	c.999G>C	c.(997-999)gaG>gaC	p.E333D	NDUFA10_ENST00000307300.4_Splice_Site_p.E363D|NDUFA10_ENST00000404554.1_Splice_Site_p.E333D	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	333					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	ACAGTCTTACCTCTCTGAACT	0.468000													9	70					0	0	1	0	0
ZNF350	59348	broad.mit.edu	37	19	52468277	52468277	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr19:52468277C>T	ENST00000243644.4	-	5	1656	c.1429G>A	c.(1429-1431)Ggc>Agc	p.G477S	HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	477					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		GCGAGGAGGCCGCTGATGTTT	0.512000													20	55					0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30349274	30349274	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr17:30349274C>A	ENST00000327564.7	+	1	1251	c.1190C>A	c.(1189-1191)cCa>cAa	p.P397Q	LRRC37B_ENST00000394713.3_Missense_Mutation_p.P370Q|LRRC37B_ENST00000341671.7_Missense_Mutation_p.P370Q|LRRC37B_ENST00000543378.2_Missense_Mutation_p.P288Q|LRRC37B_ENST00000584368.1_Missense_Mutation_p.P382Q			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	370						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CAGGAGGCCCCAATTCAGCCT	0.517000													10	192					2.17888e-05	2.37453e-05	1	1	0
DSCAM	1826	broad.mit.edu	37	21	41561101	41561101	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr21:41561101C>T	ENST00000400454.1	-	12	2898	c.2421G>A	c.(2419-2421)atG>atA	p.M807I		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	807	Ig-like C2-type 9.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCGTGCAGCTCATCTCCTTTT	0.502000													4	67					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588552	140588552	+	Nonsense_Mutation	SNP	C	C	T	rs142953283	by1000genomes	TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr5:140588552C>T	ENST00000239450.2	+	1	262	c.73C>T	c.(73-75)Cag>Tag	p.Q25*	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		25					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGAATGTCTCAGGCGGGCTC	0.488000													12	73					0	0	1	0	0
NPLOC4	55666	broad.mit.edu	37	17	79580458	79580458	+	Translation_Start_Site	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr17:79580458G>A	ENST00000539314.1	-	0	420				NPLOC4_ENST00000374747.5_Missense_Mutation_p.T91M|NPLOC4_ENST00000574344.1_5'UTR|NPLOC4_ENST00000331134.6_Missense_Mutation_p.T91M			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)						cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGGAACTGACGTCTCCATTTC	0.507000													3	33					0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48919543	48919543	+	Silent	SNP	G	G	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr12:48919543G>C	ENST00000310194.1	+	1	129	c.129G>C	c.(127-129)ctG>ctC	p.L43L	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TGGAAAACCTGATGCTGCTGC	0.507000													24	96					0	0	1	0	0
HEXDC	284004	broad.mit.edu	37	17	80393672	80393672	+	Silent	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr17:80393672G>A	ENST00000337014.6	+	6	1029	c.555G>A	c.(553-555)gtG>gtA	p.V185V	HEXDC_ENST00000327949.9_Silent_p.V185V|HEXDC_ENST00000577944.1_Silent_p.V185V	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	185					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CCAGCGGCGTGAAGGCCCGGC	0.697000													7	92					0	0	1	0	0
ZBTB43	23099	broad.mit.edu	37	9	129595911	129595911	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr9:129595911T>C	ENST00000373464.4	+	3	1387	c.1123T>C	c.(1123-1125)Tgt>Cgt	p.C375R	ZBTB43_ENST00000449886.1_Missense_Mutation_p.C375R|ZBTB43_ENST00000373457.1_Missense_Mutation_p.C375R	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GCTGTATCCTTGTCAGTGTGG	0.493000													4	72					0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17873574	17873574	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr19:17873574G>A	ENST00000594202.1	+	5	310	c.31G>A	c.(31-33)Gag>Aag	p.E11K	FCHO1_ENST00000252771.7_Missense_Mutation_p.E11K|FCHO1_ENST00000597512.1_Missense_Mutation_p.E18K|FCHO1_ENST00000596951.1_Missense_Mutation_p.E11K|FCHO1_ENST00000389133.4_Missense_Mutation_p.E11K|FCHO1_ENST00000600676.1_Missense_Mutation_p.E11K|FCHO1_ENST00000599236.1_3'UTR|FCHO1_ENST00000539407.1_Missense_Mutation_p.E11K|FCHO1_ENST00000596536.1_Missense_Mutation_p.E11K|FCHO1_ENST00000595033.1_5'UTR	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	11	FCH.									NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CCTGCAGGGCGAGAAAAATCA	0.562000													8	94					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131181295	131181295	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr8:131181295C>G	ENST00000357668.1	-	9	792	c.765G>C	c.(763-765)ttG>ttC	p.L255F	ASAP1_ENST00000518721.1_Missense_Mutation_p.L255F			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	255					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CAGCTGTTTTCAAGCCATCTT	0.279000													3	52					0	0	1	0	0
CLP1	10978	broad.mit.edu	37	11	57426974	57426974	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr11:57426974A>G	ENST00000533682.1	+	2	751	c.26A>G	c.(25-27)aAg>aGg	p.K9R	CLP1_ENST00000529430.1_Missense_Mutation_p.K20R|CLP1_ENST00000302731.4_Missense_Mutation_p.K9R|CLP1_ENST00000525602.1_Missense_Mutation_p.K9R			Q92989	CLP1_HUMAN	cleavage and polyadenylation factor I subunit 1	9					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						AATGATGACAAGAAGCCAACC	0.418000													5	39					0	0	1	0	0
LY6G6D	58530	broad.mit.edu	37	6	31683389	31683389	+	Silent	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr6:31683389C>T	ENST00000503322.1	+	5	916	c.913C>T	c.(913-915)Cta>Tta	p.L305L	LY6G6F_ENST00000556581.1_Silent_p.L305L|LY6G6D_ENST00000375825.3_Silent_p.L56L																							ACAGATCAAGCTACCTGGAAA	0.597000													7	34					0	0	1	0	0
MRPS27	23107	broad.mit.edu	37	5	71530006	71530006	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr5:71530006G>C	ENST00000261413.5	-	6	454	c.415C>G	c.(415-417)Cca>Gca	p.P139A	MRPS27_ENST00000457646.4_Missense_Mutation_p.P83A|MRPS27_ENST00000515404.1_Missense_Mutation_p.P83A|MRPS27_ENST00000513900.1_Missense_Mutation_p.P153A|MRPS27_ENST00000522562.1_5'UTR	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	139						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		AAGTTATCTGGAAAAATTCCA	0.279000													7	59					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200534573	200534573	+	Splice_Site	SNP	A	A	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr1:200534573A>C	ENST00000367350.4	-	24	4324	c.3886T>G	c.(3886-3888)Ttg>Gtg	p.L1296V		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1296	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GATTGCTTACAGTTATCTTGA	0.333000													7	45					0	0	1	0	0
ALG11	440138	broad.mit.edu	37	13	52598548	52598548	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr13:52598548T>C	ENST00000521508.1	+	3	687	c.682T>C	c.(682-684)Ttt>Ctt	p.F228L	ALG11_ENST00000523764.1_Intron|ALG11_ENST00000519151.1_3'UTR	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		CAGGAATCCTTTTCTCAGCAA	0.358000													12	191					0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29375670	29375670	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr2:29375670C>T	ENST00000320081.5	+	9	1396	c.1141C>T	c.(1141-1143)Cat>Tat	p.H381Y	CLIP4_ENST00000401617.2_Missense_Mutation_p.H274Y|CLIP4_ENST00000401605.1_Missense_Mutation_p.H381Y|CLIP4_ENST00000404424.1_Missense_Mutation_p.H381Y	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	381										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TGACGTAGCTCATGTGACGTC	0.358000													12	65					0	0	1	0	0
CHFR	55743	broad.mit.edu	37	12	133447326	133447326	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr12:133447326C>T	ENST00000266880.7	-	5	450	c.387G>A	c.(385-387)atG>atA	p.M129I	CHFR_ENST00000315585.7_Missense_Mutation_p.M129I|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000450056.2_Missense_Mutation_p.M129I|CHFR_ENST00000432561.2_Missense_Mutation_p.M129I|CHFR_ENST00000443047.2_Intron			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	129					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		ATTCTTGTGTCATGCCTTGCT	0.413000													28	165					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	182322	182322	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr5:182322G>A	ENST00000283426.6	+	18	3750	c.3700G>A	c.(3700-3702)Gat>Aat	p.D1234N		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1234					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CTGGTCATCTGATATCAGAGC	0.657000													7	43					0	0	1	0	0
PLAC8L1	153770	broad.mit.edu	37	5	145465065	145465065	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr5:145465065A>G	ENST00000311450.4	-	3	409	c.352T>C	c.(352-354)Ttt>Ctt	p.F118L		NM_001029869.1	NP_001025040.1	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	118										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCAGTGCAAAGGTGGACCCA	0.463000													11	60					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060729	9060729	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr19:9060729G>A	ENST00000397910.4	-	3	26920	c.26717C>T	c.(26716-26718)aCc>aTc	p.T8906I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8908	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTGAAGTGGTCACAGGTTC	0.488000													10	166					0	0	1	0	0
AGO3	192669	broad.mit.edu	37	1	36437643	36437643	+	Silent	SNP	T	T	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr1:36437643T>C	ENST00000373191.4	+	4	680	c.331T>C	c.(331-333)Tta>Cta	p.L111L	AGO3_ENST00000324350.5_Silent_p.L111L|AGO3_ENST00000246314.6_5'UTR|AGO3_ENST00000397828.2_Silent_p.L111L	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		AGACGTTACTTTACCTGGGGA	0.368000													4	63					0	0	1	0	0
LOC81691	81691	broad.mit.edu	37	16	20835826	20835826	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr16:20835826C>T	ENST00000261377.6	+	7	891	c.682C>T	c.(682-684)Ctc>Ttc	p.L228F	AC004381.6_ENST00000348433.6_Missense_Mutation_p.L228F|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.L228F|AC004381.6_ENST00000567297.1_Intron	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					CAATAGTCCTCTCTTTGGACT	0.348000													4	70					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114454463	114454463	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr9:114454463C>G	ENST00000394779.3	-	23	3729	c.3485G>C	c.(3484-3486)gGg>gCg	p.G1162A	C9orf84_ENST00000374287.3_Missense_Mutation_p.G1201A|C9orf84_ENST00000318737.4_Missense_Mutation_p.G1201A|C9orf84_ENST00000394777.4_Missense_Mutation_p.G1127A	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1201			I -> T (in dbSNP:rs1475110).							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						AGTATTCTGCCCTATATTAGA	0.368000													6	94					0	0	1	0	0
LRRC46	90506	broad.mit.edu	37	17	45913816	45913816	+	Silent	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr17:45913816G>A	ENST00000269025.4	+	7	933	c.570G>A	c.(568-570)ctG>ctA	p.L190L		NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	190										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						TCCCAGAGCTGAGTGGCCCAT	0.597000													5	42					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44859730	44859730	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr15:44859730C>T	ENST00000261866.7	-	36	6662	c.6646G>A	c.(6646-6648)Gaa>Aaa	p.E2216K	SPG11_ENST00000427534.2_Missense_Mutation_p.E2216K|SPG11_ENST00000535302.2_Missense_Mutation_p.E2103K	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2216					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TTGTGCTTTTCACTGTCTCCA	0.517000													4	50					0	0	1	0	0
OR7C1	26664	broad.mit.edu	37	19	14910947	14910947	+	Translation_Start_Site	SNP	A	A	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr19:14910947A>G	ENST00000248073.2	-	1	76	c.2T>C	c.(1-3)aTg>aCg	p.M1T	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	1					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						TCCTGTTTCCATGGGGATAAA	0.393000													7	143					0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67663512	67663512	+	Silent	SNP	G	G	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr12:67663512G>C	ENST00000545606.1	+	1	452	c.15G>C	c.(13-15)tcG>tcC	p.S5S	CAND1_ENST00000539109.1_3'UTR	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	5					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CGAGCGCCTCGTACCACATTT	0.652000													6	38					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155242157	155242157	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr4:155242157T>A	ENST00000357232.4	-	14	3028	c.3029A>T	c.(3028-3030)aAg>aTg	p.K1010M		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATCAAGTTCCTTAGAAAGAAA	0.363000													17	119					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73478029	73478029	+	Splice_Site	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr9:73478029C>T	ENST00000377110.3	-	3	501		c.e3-1		TRPM3_ENST00000377101.1_Splice_Site|TRPM3_ENST00000437699.3_Splice_Site|TRPM3_ENST00000357533.2_Splice_Site|TRPM3_ENST00000423814.3_Splice_Site|TRPM3_ENST00000360823.2_Splice_Site|TRPM3_ENST00000377111.2_Splice_Site|TRPM3_ENST00000377106.1_Splice_Site|TRPM3_ENST00000361823.5_Splice_Site|TRPM3_ENST00000396283.1_Splice_Site|TRPM3_ENST00000377105.1_Splice_Site			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACAGCAACACCTATAACAGAA	0.478000													11	39					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6719357	6719357	+	Silent	SNP	C	C	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr19:6719357C>A	ENST00000245907.6	-	2	224	c.132G>T	c.(130-132)ctG>ctT	p.L44L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	44					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)		CGTGGGCCTCCAGCACCATGG	0.577000													8	78					1.12685e-05	1.23307e-05	1	1	0
GOLGA6L3	100133220	broad.mit.edu	37	15	83014132	83014132	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr15:83014132C>G	ENST00000557886.1	-	6	550	c.451G>C	c.(451-453)Gag>Cag	p.E151Q															p.E151Q(4)		endometrium(6)|kidney(5)|prostate(1)	12						GCTGGGGGCTCTGGGGCCAGG	0.522000													2	4					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164709194	164709194	+	Silent	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr3:164709194G>A	ENST00000264382.3	-	44	5117	c.5055C>T	c.(5053-5055)gtC>gtT	p.V1685V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1685	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GACCACCACGGACATGTAGGT	0.393000										HNSCC(35;0.089)			5	87					0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37631847	37631847	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr6:37631847C>T	ENST00000297153.7	-	2	1281	c.103G>A	c.(103-105)Gca>Aca	p.A35T	MDGA1_ENST00000434837.3_Missense_Mutation_p.A35T|MDGA1_ENST00000505425.1_Missense_Mutation_p.A35T			Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	35	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						ACCACACATGCCTGGCCCGCA	0.607000													6	95					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153182004	153182004	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr5:153182004T>C	ENST00000285900.5	+	15	2817	c.2474T>C	c.(2473-2475)tTa>tCa	p.L825S	GRIA1_ENST00000518783.1_Missense_Mutation_p.L835S|GRIA1_ENST00000448073.4_Missense_Mutation_p.L835S|GRIA1_ENST00000521843.2_Missense_Mutation_p.L756S|GRIA1_ENST00000340592.5_Missense_Mutation_p.L825S|GRIA1_ENST00000518142.1_Missense_Mutation_p.L745S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	825					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTGGTTGCCTTAATCGAGTTC	0.522000													7	171					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7663139	7663139	+	Missense_Mutation	SNP	G	G	A	rs112194246		TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr17:7663139G>A	ENST00000572933.1	+	17	4128	c.2668G>A	c.(2668-2670)Gca>Aca	p.A890T	DNAH2_ENST00000389173.2_Missense_Mutation_p.A890T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	890	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCAGACTTTGGCAGGTGTGGT	0.522000													6	208					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7689456	7689456	+	Silent	SNP	T	T	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr17:7689456T>A	ENST00000572933.1	+	40	7604	c.6144T>A	c.(6142-6144)gtT>gtA	p.V2048V	DNAH2_ENST00000389173.2_Silent_p.V2048V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2048	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGGAGACCGTTGAGCAGGAGA	0.522000													5	97					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416319	105416319	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr14:105416319G>C	ENST00000333244.5	-	7	5588	c.5469C>G	c.(5467-5469)ttC>ttG	p.F1823L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1823						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGCATTTTGAACTTGCTGT	0.612000													62	490					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39678663	39678663	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr8:39678663C>G	ENST00000265708.4	-	6	474	c.371G>C	c.(370-372)aGt>aCt	p.S124T	ADAM2_ENST00000521880.1_Missense_Mutation_p.S124T|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000347580.4_Missense_Mutation_p.S124T|ADAM2_ENST00000379853.2_Missense_Mutation_p.S124T	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	124					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TATTCCATAACTAACATTTTC	0.318000													6	68					0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2416678	2416678	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr19:2416678C>G	ENST00000332578.3	+	11	1786	c.1786C>G	c.(1786-1788)Ctg>Gtg	p.L596V		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	596	Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGCTGTCCTGGAGCTGGC	0.652000													4	49					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7647885	7647885	+	Silent	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr12:7647885C>G	ENST00000359156.4	-	6	1414	c.1212G>C	c.(1210-1212)ctG>ctC	p.L404L	CD163_ENST00000541972.1_Silent_p.L392L|CD163_ENST00000396620.3_Silent_p.L404L|CD163_ENST00000432237.2_Silent_p.L404L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	404	SRCR 4.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CAGCTTCTTTCAGTCCCCAGC	0.507000													4	111					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1017346	1017346	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr11:1017346A>T	ENST00000421673.2	-	31	5505	c.5455T>A	c.(5455-5457)Tcc>Acc	p.S1819T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1819	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCTGGAAGGATGTTGCAGTG	0.572000													18	723					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13409670	13409670	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr19:13409670C>T	ENST00000360228.5	-	19	2776	c.2777G>A	c.(2776-2778)gGg>gAg	p.G926E	CACNA1A_ENST00000573710.2_Missense_Mutation_p.G927E	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	927					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTGGGGGTCCCCGGCCTTGCC	0.771000													4	22					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44684959	44684959	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr7:44684959G>A	ENST00000222673.5	+	3	298	c.256G>A	c.(256-258)Gga>Aga	p.G86R	OGDH_ENST00000543843.1_Missense_Mutation_p.G26R|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000447398.1_Missense_Mutation_p.G86R|OGDH_ENST00000443864.2_Missense_Mutation_p.G86R|OGDH_ENST00000449767.1_Missense_Mutation_p.G86R|OGDH_ENST00000444676.1_Missense_Mutation_p.G86R	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	86					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CACGAATGCCGGAGCCCCACC	0.577000													4	129					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107427325	107427325	+	Silent	SNP	G	G	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr7:107427325G>T	ENST00000340010.5	-	8	1102	c.918C>A	c.(916-918)ggC>ggA	p.G306G	SLC26A3_ENST00000422236.2_Silent_p.G271G	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	306					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TAAAGTCACAGCCGTAGGATA	0.438000													7	97					0.00307968	0.00319951	1	1	0
NOTUM	147111	broad.mit.edu	37	17	79910868	79910868	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr17:79910868T>G	ENST00000409678.3	-	11	1843	c.1460A>C	c.(1459-1461)gAg>gCg	p.E487A		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	487						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CCCCAGCAGCTCACTGGGCTC	0.652000													4	129					0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558021	159558021	+	Silent	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr1:159558021C>T	ENST00000255040.2	+	2	292	c.195C>T	c.(193-195)gcC>gcT	p.A65A		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	65	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					TCTCTCGTGCCTACAGCCTCT	0.418000													6	133					0	0	1	0	0
CDCA7	83879	broad.mit.edu	37	2	174230307	174230307	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr2:174230307A>T	ENST00000306721.3	+	7	1125	c.1022A>T	c.(1021-1023)tAt>tTt	p.Y341F	CDCA7_ENST00000392567.2_Missense_Mutation_p.Y262F|CDCA7_ENST00000347703.3_Missense_Mutation_p.Y262F|CDCA7_ENST00000410101.3_Missense_Mutation_p.Y297F|CDCA7_ENST00000410019.3_Missense_Mutation_p.Y220F	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	262	Mediates transcriptional activity.				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			GAGAAGATATATAACCGTTCA	0.463000													4	49					0	0	1	0	0
ANAPC7	51434	broad.mit.edu	37	12	110812022	110812022	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr12:110812022T>C	ENST00000455511.3	-	11	1727	c.1727A>G	c.(1726-1728)gAa>gGa	p.E576G	ANAPC7_ENST00000481473.1_5'UTR	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	576					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						CAGGTCCCCTTCTTCCCCACT	0.632000													4	60					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088946	86088946	+	Missense_Mutation	SNP	C	C	T	rs147368086		TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr14:86088946C>T	ENST00000330753.4	+	2	1855	c.1088C>T	c.(1087-1089)aCg>aTg	p.T363M	FLRT2_ENST00000554746.1_Missense_Mutation_p.T363M	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	363					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGTCCCACCACGACCCCCGGC	0.562000													5	146					0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107289187	107289187	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr9:107289187A>G	ENST00000277216.3	-	1	303	c.304T>C	c.(304-306)Ttc>Ctc	p.F102L		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						AACCCAAAGAACATCTGCACT	0.448000													6	130					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76813097	76813097	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chrX:76813097A>G	ENST00000373344.5	-	30	6738	c.6524T>C	c.(6523-6525)aTt>aCt	p.I2175T	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.I2137T	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2175	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CCGATCATAAATCTTATCTTC	0.338000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						19	49					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	1005690	1005690	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr12:1005690G>C	ENST00000537687.1	+	24	7460	c.6817G>C	c.(6817-6819)Gac>Cac	p.D2273H	WNK1_ENST00000340908.4_Missense_Mutation_p.D1606H|WNK1_ENST00000535572.1_Missense_Mutation_p.D1765H|WNK1_ENST00000315939.6_Missense_Mutation_p.D2013H|WNK1_ENST00000530271.2_Missense_Mutation_p.D2511H	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2013					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GCCGTCTTCTGACCCGGAGGC	0.493000													7	104					0	0	1	0	0
UVRAG	7405	broad.mit.edu	37	11	75672492	75672492	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr11:75672492C>T	ENST00000356136.3	+	7	839	c.598C>T	c.(598-600)Cat>Tat	p.H200Y	UVRAG_ENST00000528420.1_Missense_Mutation_p.H99Y|UVRAG_ENST00000533454.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	200					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TTCTAGGCTTCATAGAGCCCA	0.333000													4	68					0	0	1	0	0
ULK2	9706	broad.mit.edu	37	17	19741844	19741844	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr17:19741844G>A	ENST00000395544.4	-	10	1256	c.757C>T	c.(757-759)Cag>Tag	p.Q253*	ULK2_ENST00000361658.2_Nonsense_Mutation_p.Q253*	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	253	Protein kinase.				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TGGTTTCTCTGAAGCAAACCC	0.318000													10	83					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137623474	137623474	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr9:137623474G>C	ENST00000371817.3	+	8	1711	c.1297G>C	c.(1297-1299)Gga>Cga	p.G433R		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	433	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GATCGGGCCGGGAATGCCGGC	0.642000													5	35					0	0	1	0	0
CHCHD7	79145	broad.mit.edu	37	8	57127188	57127188	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr8:57127188C>A	ENST00000523975.1	+	3	200	c.52C>A	c.(52-54)Cag>Aag	p.Q18K	CHCHD7_ENST00000355315.3_Missense_Mutation_p.Q6K|CHCHD7_ENST00000519367.1_Missense_Mutation_p.Q6K|CHCHD7_ENST00000521831.1_Missense_Mutation_p.Q6K|CHCHD7_ENST00000396723.5_Missense_Mutation_p.Q15K|CHCHD7_ENST00000518801.1_Missense_Mutation_p.Q18K|CHCHD7_ENST00000521524.1_Missense_Mutation_p.Q18K|CHCHD7_ENST00000517933.1_Missense_Mutation_p.Q6K|CHCHD7_ENST00000523061.1_Missense_Mutation_p.Q6K|CHCHD7_ENST00000303759.3_Missense_Mutation_p.Q31K			Q9BUK0	CHCH7_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 7	6	CHCH.								CHCHD7/PLAG1(12)	endometrium(1)	1		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00159)|all cancers(17;0.0112)			CTCGGTAACACAGAGGCTGAG	0.363000			T	PLAG1	salivary adenoma								4	70					5.9392e-07	6.57994e-07	1	1	0
CERCAM	51148	broad.mit.edu	37	9	131196706	131196706	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr9:131196706A>C	ENST00000372842.1	+	12	4259	c.1115A>C	c.(1114-1116)cAg>cCg	p.Q372P	CERCAM_ENST00000372838.4_Missense_Mutation_p.Q450P			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	450					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GGACGGAAGCAGGTGAACCCT	0.657000													5	54					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83320118	83320118	+	Splice_Site	SNP	T	T	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chrX:83320118T>C	ENST00000262752.2	-	21	1980	c.1973A>G	c.(1972-1974)gAt>gGt	p.D658G	RPS6KA6_ENST00000543399.1_Splice_Site_p.D658G	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	658	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GGAAAGCAAATCCTAAATTAA	0.338000													12	41					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192760	152192760	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr1:152192760A>G	ENST00000368801.2	-	3	1420	c.1345T>C	c.(1345-1347)Tct>Cct	p.S449P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	449					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTGGAAGATCGACCAAAG	0.587000													9	170					0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63091999	63091999	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr2:63091999A>G	ENST00000263991.5	+	10	1478	c.996A>G	c.(994-996)atA>atG	p.I332M	EHBP1_ENST00000431489.1_Missense_Mutation_p.I297M|EHBP1_ENST00000405289.1_Missense_Mutation_p.I297M|EHBP1_ENST00000405015.3_Missense_Mutation_p.I297M|EHBP1_ENST00000354487.3_Missense_Mutation_p.I297M	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	332						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TTGTGACCATAAAGGATTCTC	0.373000													8	131					0	0	1	0	0
FGD3	89846	broad.mit.edu	37	9	95792238	95792238	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr9:95792238C>G	ENST00000375482.3	+	15	2136	c.1640C>G	c.(1639-1641)tCc>tGc	p.S547C	FGD3_ENST00000538555.1_Missense_Mutation_p.S150C|FGD3_ENST00000416701.2_Missense_Mutation_p.S547C|FGD3_ENST00000337352.6_Missense_Mutation_p.S547C	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	547					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						ACCTTCAACTCCATCACCAAG	0.562000													3	45					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139736904	139736904	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr8:139736904G>T	ENST00000303045.6	-	25	2647	c.2201C>A	c.(2200-2202)cCt>cAt	p.P734H	COL22A1_ENST00000435777.1_Missense_Mutation_p.P734H	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	734	Collagen-like 5.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GATCTCTCCAGGCAAACCCTG	0.592000										HNSCC(7;0.00092)			4	43					0.184627	0.185321	1	1	0
MARCH1	55016	broad.mit.edu	37	4	164507041	164507041	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr4:164507041T>C	ENST00000503008.1	-	6	1259	c.283A>G	c.(283-285)Aca>Gca	p.T95A	MARCH1_ENST00000274056.7_Missense_Mutation_p.T95A|MARCH1_ENST00000514618.1_Missense_Mutation_p.T351A|MARCH1_ENST00000339875.5_Missense_Mutation_p.T78A	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	95					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CGACAGGGTGTGATGAGGGGG	0.537000													10	49					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49218831	49218831	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr20:49218831C>G	ENST00000327979.2	-	13	1836	c.1425G>C	c.(1423-1425)gaG>gaC	p.E475D	FAM65C_ENST00000535356.1_Missense_Mutation_p.E479D|FAM65C_ENST00000045083.2_Missense_Mutation_p.E475D			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	475										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCTGGGGCTCTCCCCTCCTA	0.682000													6	35					0	0	1	0	0
LPAL2	80350	broad.mit.edu	37	6	160888683	160888683	+	RNA	SNP	G	G	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr6:160888683G>T	ENST00000335388.5	-	0	1573					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		CCTGACGCTGGGGTCTGTGGT	0.537000													6	119					0.0215528	0.0219641	1	1	0
BACH2	60468	broad.mit.edu	37	6	90661094	90661094	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr6:90661094T>A	ENST00000257749.4	-	7	1438	c.731A>T	c.(730-732)aAt>aTt	p.N244I	BACH2_ENST00000343122.3_Missense_Mutation_p.N244I|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.N244I|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	244						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TGATGATGCATTATAGACATT	0.493000													12	140					0	0	1	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926341	22926341	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr16:22926341C>A	ENST00000261374.3	+	2	996	c.562C>A	c.(562-564)Cct>Act	p.P188T		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	188						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TCAAGAGGCTCCTCGACGCAT	0.562000													7	96					0.00198382	0.00206906	1	1	0
NBPF1	55672	broad.mit.edu	37	1	16892177	16892177	+	Silent	SNP	G	G	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr1:16892177G>C	ENST00000430580.2	-	27	3902	c.3015C>G	c.(3013-3015)tcC>tcG	p.S1005S		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1005	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ATGCATAAAAGGAACTTCCAT	0.448000													14	1470					0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8398038	8398038	+	Missense_Mutation	SNP	C	C	T	rs138563874		TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr1:8398038C>T	ENST00000471889.1	+	7	2145	c.1760C>T	c.(1759-1761)gCt>gTt	p.A587V	SLC45A1_ENST00000377479.2_Missense_Mutation_p.A621V|SLC45A1_ENST00000289877.8_Missense_Mutation_p.A587V			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	587					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTTCAGTGCTGCCTTCTAC	0.602000													4	45					0	0	1	0	0
SNRPB	6628	broad.mit.edu	37	20	2443806	2443806	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr20:2443806C>A	ENST00000339610.6	-	6	706	c.251G>T	c.(250-252)gGg>gTg	p.G84V	SNRPB_ENST00000438552.2_Missense_Mutation_p.G163V|SNRPB_ENST00000381342.2_Missense_Mutation_p.G163V			P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	163					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						GGTTGGAGCCCCGGCAATACT	0.597000													7	72					8.12818e-05	8.75091e-05	1	1	0
VMA21	203547	broad.mit.edu	37	X	150573406	150573406	+	Missense_Mutation	SNP	A	A	G	rs141926826	byFrequency	TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chrX:150573406A>G	ENST00000330374.6	+	3	287	c.182A>G	c.(181-183)aAt>aGt	p.N61S	VMA21_ENST00000370361.1_Missense_Mutation_p.N116S|VMA21_ENST00000477649.1_3'UTR	NM_001017980.3	NP_001017980.1	Q3ZAQ7	VMA21_HUMAN	VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)	61					vacuolar proton-transporting V-type ATPase complex assembly	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|lysosome				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	7						GGGATGTCCAATAGGGACAGC	0.418000													20	59					0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101808524	101808524	+	Missense_Mutation	SNP	T	T	A	rs151188411	byFrequency	TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr10:101808524T>A	ENST00000370418.3	-	8	1472	c.1221A>T	c.(1219-1221)gaA>gaT	p.E407D		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	407					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CCAACGTTGGTTCCGCAGGAC	0.527000													21	76					0	0	1	0	0
TMEM255B	348013	broad.mit.edu	37	13	114498136	114498136	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr13:114498136G>A	ENST00000375353.3	+	4	295	c.268G>A	c.(268-270)Gtg>Atg	p.V90M		NM_182614.2	NP_872420.1			transmembrane protein 255B																		GGCAGCGATCGTGTTTATCAG	0.537000													4	37					0	0	1	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396176	38396176	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr9:38396176A>G	ENST00000377698.3	+	2	584	c.431A>G	c.(430-432)aAg>aGg	p.K144R		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	144					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GAGGTCATCAAGGTGTATCGG	0.552000													4	111					0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31457562	31457562	+	Silent	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr2:31457562C>G	ENST00000322054.5	+	1	360	c.75C>G	c.(73-75)ctC>ctG	p.L25L	EHD3_ENST00000541626.1_Silent_p.L25L	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	25					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GTGAGGGGCTCAAGAAACTCT	0.637000													12	63					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562365	140562365	+	Silent	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr5:140562365C>T	ENST00000361016.2	+	1	1386	c.231C>T	c.(229-231)ctC>ctT	p.L77L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		77	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTTGCAGCTCAAGGCTCAAA	0.493000													5	49					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58445019	58445019	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr20:58445019T>C	ENST00000357552.3	-	36	3800	c.3575A>G	c.(3574-3576)aAg>aGg	p.K1192R	SYCP2_ENST00000371001.2_Missense_Mutation_p.K1192R			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1192					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AGTATTACTCTTAGTTGGAGT	0.323000													3	62					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142574308	142574308	+	Silent	SNP	G	G	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr7:142574308G>C	ENST00000359396.3	-	6	860	c.615C>G	c.(613-615)ctC>ctG	p.L205L	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	205					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TGTTGGGCTGGAGGATGAGGA	0.572000													13	83					0	0	1	0	0
AIRE	326	broad.mit.edu	37	21	45706895	45706895	+	Silent	SNP	G	G	A	rs142788946		TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr21:45706895G>A	ENST00000291582.5	+	3	469	c.342G>A	c.(340-342)aaG>aaA	p.K114K		NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	114					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		AGGGGAGGAAGCCCCCGGCCG	0.677000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				6	51					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137713498	137713498	+	Silent	SNP	A	A	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr5:137713498A>G	ENST00000314358.5	+	4	764	c.564A>G	c.(562-564)caA>caG	p.Q188Q		NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	188					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AAAAGCTACAAGAGATATTCA	0.423000													5	46					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236740250	236740250	+	Splice_Site	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr1:236740250C>G	ENST00000366582.3	-	21	2870		c.e21-1		HEATR1_ENST00000366581.2_Splice_Site	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1						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)			GATGTCACCACTAAAATCAAA	0.388000													5	73					0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124096176	124096176	+	Silent	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr10:124096176C>T	ENST00000368994.2	+	15	1685	c.1434C>T	c.(1432-1434)acC>acT	p.T478T	BTBD16_ENST00000260723.4_Silent_p.T477T			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	477										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TTGGGTTGACCACGTCATCCT	0.502000													5	50					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2336825	2336825	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr16:2336825G>C	ENST00000301732.5	-	22	3848	c.3148C>G	c.(3148-3150)Cca>Gca	p.P1050A	ABCA3_ENST00000382381.3_Missense_Mutation_p.P992A	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1050					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GCAGTGGCTGGAGAGTGGTAC	0.627000													6	121					0	0	1	0	0
BEST4	266675	broad.mit.edu	37	1	45251815	45251815	+	Silent	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr1:45251815G>A	ENST00000372207.3	-	4	566	c.567C>T	c.(565-567)acC>acT	p.T189T		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	189						chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					CCGCCAGGTTGGTGAACCAGA	0.562000											OREG0013447	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	141					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85399914	85399914	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr15:85399914A>G	ENST00000258888.5	+	6	2718	c.2551A>G	c.(2551-2553)Aag>Gag	p.K851E		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	851					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACAAGAAAGCAAGAGGCCACA	0.537000													5	27					0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247695252	247695252	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr1:247695252G>T	ENST00000366487.3	-	2	923	c.562C>A	c.(562-564)Ctg>Atg	p.L188M	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			ACACAAGCCAGTTGCATAATG	0.547000													3	32					0.004672	0.00483498	1	1	0
TWF1	5756	broad.mit.edu	37	12	44194324	44194324	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr12:44194324T>C	ENST00000395510.2	-	4	421	c.292A>G	c.(292-294)Aaa>Gaa	p.K98E	TWF1_ENST00000552521.1_5'UTR|TWF1_ENST00000325127.4_Missense_Mutation_p.K132E|TWF1_ENST00000548315.1_Missense_Mutation_p.K98E	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	98	ADF-H 1.					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		TACAACATTTTTTGACGAACC	0.318000													12	75					0	0	1	0	0
SDAD1	55153	broad.mit.edu	37	4	76878504	76878504	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr4:76878504T>C	ENST00000356260.5	-	20	1946	c.1828A>G	c.(1828-1830)Aaa>Gaa	p.K610E	AC110615.1_ENST00000599764.1_Missense_Mutation_p.L87S|SDAD1_ENST00000395711.4_Missense_Mutation_p.K573E	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	610					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTTGTCTCTTTGTCAGACTTT	0.373000													4	70					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	129062021	129062021	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr11:129062021G>A	ENST00000310343.9	-	1	72	c.73C>T	c.(73-75)Cag>Tag	p.Q25*		NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	25					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TCAGTCACCTGGATTATAACT	0.438000													10	137					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105353213	105353213	+	Silent	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr14:105353213G>A	ENST00000453495.1	+	12	2868	c.2640G>A	c.(2638-2640)gcG>gcA	p.A880A	CEP170B_ENST00000556508.1_Silent_p.A809A|CEP170B_ENST00000414716.3_Silent_p.A879A|CEP170B_ENST00000418279.1_Silent_p.A809A					centrosomal protein 170B																		GTCCCCCAGCGCCCGGCAAGC	0.682000													5	46					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768622	31768622	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr19:31768622C>T	ENST00000240587.4	-	2	2404	c.2077G>A	c.(2077-2079)Gag>Aag	p.E693K		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	693					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTCACCAGCTCCTTGCCATTC	0.647000													10	53					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101798598	101798598	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr9:101798598G>A	ENST00000375001.3	+	21	2752	c.2329G>A	c.(2329-2331)Gaa>Aaa	p.E777K		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	777	Triple-helical region 3 (COL3).				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)				TGACCAGGGAGAAAGGGGGAT	0.542000													3	51					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681824	100681824	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr7:100681824G>T	ENST00000306151.4	+	3	7191	c.7127G>T	c.(7126-7128)gGt>gTt	p.G2376V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2376	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTCAAGCCGGTTCATCTCCT	0.493000													15	300					2.23348e-06	2.46422e-06	1	1	0
ANGPT2	285	broad.mit.edu	37	8	6360674	6360674	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr8:6360674G>T	ENST00000325203.5	-	9	1913	c.1439C>A	c.(1438-1440)tCa>tAa	p.S480*	ANGPT2_ENST00000338312.6_Nonsense_Mutation_p.S428*|ANGPT2_ENST00000415216.1_Nonsense_Mutation_p.S479*|MCPH1_ENST00000344683.5_Intron			O15123	ANGP2_HUMAN	angiopoietin 2	480	Fibrinogen C-terminal.				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		CGAATAGCCTGAGCCTTTCCA	0.443000													3	61					0.00024832	0.000264149	1	1	0
C7orf61	402573	broad.mit.edu	37	7	100061291	100061291	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr7:100061291T>C	ENST00000332375.3	-	2	327	c.82A>G	c.(82-84)Aaa>Gaa	p.K28E	TSC22D4_ENST00000496728.1_5'UTR	NM_001004323.1	NP_001004323.1	Q8IZ16	CG061_HUMAN	chromosome 7 open reading frame 61	28										central_nervous_system(1)|endometrium(1)|prostate(1)|skin(1)	4						GGTTTAATTTTTTGCCTCCAG	0.478000													4	94					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000													3	6					0	0	1	0	0
BRD2	6046	broad.mit.edu	37	6	32944544	32944544	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr6:32944544G>A	ENST00000395289.2	+	7	2632	c.1031G>A	c.(1030-1032)gGa>gAa	p.G344E	BRD2_ENST00000374825.4_Missense_Mutation_p.G344E|BRD2_ENST00000449085.2_Missense_Mutation_p.G297E|BRD2_ENST00000443797.2_Missense_Mutation_p.G224E|BRD2_ENST00000374831.4_Missense_Mutation_p.G344E|BRD2_ENST00000395287.1_Missense_Mutation_p.G344E			P25440	BRD2_HUMAN	bromodomain containing 2	344					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TCTAAGAAAGGAAAGCTTTCA	0.483000													7	116					0	0	1	0	0
OR7G3	390883	broad.mit.edu	37	19	9236789	9236789	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr19:9236789C>T	ENST00000305444.2	-	1	837	c.838G>A	c.(838-840)Gtg>Atg	p.V280M		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GGGGTGACCACGGTATACATC	0.468000													6	95					0	0	1	0	0
EPS8	2059	broad.mit.edu	37	12	15774321	15774321	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr12:15774321C>G	ENST00000281172.5	-	21	2835	c.2399G>C	c.(2398-2400)cGa>cCa	p.R800P	EPS8_ENST00000540613.1_Missense_Mutation_p.R540P|EPS8_ENST00000542903.1_Missense_Mutation_p.R540P|EPS8_ENST00000543523.1_Missense_Mutation_p.R800P|EPS8_ENST00000543612.1_Missense_Mutation_p.R800P	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	800					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TTTTTCCTGTCGTCTTCTCAT	0.403000													4	119					0	0	1	0	0
RAB4B-EGLN2	100529264	broad.mit.edu	37	19	41289874	41289874	+	Silent	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr19:41289874C>T	ENST00000594136.1	+	5	429	c.324C>T	c.(322-324)acC>acT	p.T108T	RAB4B-EGLN2_ENST00000601949.1_Intron|RAB4B_ENST00000594800.1_Silent_p.T108T|RAB4B_ENST00000357052.2_Silent_p.T108T|RAB4B_ENST00000602069.1_3'UTR|MIA-RAB4B_ENST00000600729.1_3'UTR																							ATGCCCGCACCCTGGCCAGCC	0.632000													5	66					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202205096	202205096	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr1:202205096T>G	ENST00000367278.3	+	4	492	c.403T>G	c.(403-405)Tgg>Ggg	p.W135G	LGR6_ENST00000439764.2_Missense_Mutation_p.W92G|LGR6_ENST00000255432.7_Missense_Mutation_p.W83G	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	135						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						AGAGGCGCTGTGGGAGCTGCC	0.617000													6	57					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			6	42					0	0	1	0	0
LIG4	3981	broad.mit.edu	37	13	108861219	108861219	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr13:108861219C>G	ENST00000356922.4	-	2	2670	c.2398G>C	c.(2398-2400)Gaa>Caa	p.E800Q	LIG4_ENST00000442234.1_Missense_Mutation_p.E800Q|LIG4_ENST00000405925.1_Missense_Mutation_p.E800Q	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	800					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TACCGATATTCTAAATCAGCA	0.398000								Non-homologous end-joining					4	78					0	0	1	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73460063	73460063	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr14:73460063G>A	ENST00000556143.1	-	4	1711	c.991C>T	c.(991-993)Cat>Tat	p.H331Y	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.H331Y|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.H331Y	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	331						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TCTGAGGGATGATCTATACAA	0.502000													3	34					0	0	1	0	0
ZNF823	55552	broad.mit.edu	37	19	11833762	11833762	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr19:11833762A>G	ENST00000341191.6	-	4	740	c.587T>C	c.(586-588)tTg>tCg	p.L196S	ZNF823_ENST00000545749.1_Missense_Mutation_p.L14S	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TTTCCCACACAACTTACATTT	0.423000										HNSCC(68;0.2)			12	121					0	0	1	0	0
RP11-337C18.8	0	broad.mit.edu	37	1	146651129	146651129	+	RNA	SNP	C	C	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr1:146651129C>G	ENST00000607149.1	+	0	350				RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA																							TATTAGCTATCTACAACGAGA	0.398000													8	65					0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94701005	94701005	+	Splice_Site	SNP	G	G	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr14:94701005G>T	ENST00000304338.3	+	7	884	c.730G>T	c.(730-732)Ggg>Tgg	p.G244W		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	244						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CCAGGGCATTGGGTAGGTATA	0.368000													3	28					0.115264	0.116134	1	1	0
MAGI2	9863	broad.mit.edu	37	7	78636425	78636425	+	Silent	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr7:78636425G>A	ENST00000354212.4	-	2	652	c.399C>T	c.(397-399)ctC>ctT	p.L133L	MAGI2_ENST00000419488.1_Silent_p.L133L|MAGI2_ENST00000522391.1_Silent_p.L133L	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	133	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGCGGAGGTAGAGGTTGTCAC	0.378000													5	82					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													4	52					0	0	1	0	0
CHCHD7	79145	broad.mit.edu	37	8	57127187	57127187	+	Silent	SNP	A	A	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr8:57127187A>G	ENST00000523975.1	+	3	199	c.51A>G	c.(49-51)acA>acG	p.T17T	CHCHD7_ENST00000355315.3_Silent_p.T5T|CHCHD7_ENST00000519367.1_Silent_p.T5T|CHCHD7_ENST00000521831.1_Silent_p.T5T|CHCHD7_ENST00000396723.5_Silent_p.T14T|CHCHD7_ENST00000518801.1_Silent_p.T17T|CHCHD7_ENST00000521524.1_Silent_p.T17T|CHCHD7_ENST00000517933.1_Silent_p.T5T|CHCHD7_ENST00000523061.1_Silent_p.T5T|CHCHD7_ENST00000303759.3_Silent_p.T30T			Q9BUK0	CHCH7_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 7	5	CHCH.								CHCHD7/PLAG1(12)	endometrium(1)	1		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00159)|all cancers(17;0.0112)			CCTCGGTAACACAGAGGCTGA	0.363000			T	PLAG1	salivary adenoma								4	70					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559422	129559422	+	Silent	SNP	C	C	T			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr12:129559422C>T	ENST00000422113.2	-	9	2624	c.2298G>A	c.(2296-2298)ctG>ctA	p.L766L	TMEM132D_ENST00000389441.4_Silent_p.L304L	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	766						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCACCTTGACCAGGGTGCCTT	0.463000													7	130					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7663142	7663142	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr17:7663142G>A	ENST00000572933.1	+	17	4131	c.2671G>A	c.(2671-2673)Ggt>Agt	p.G891S	DNAH2_ENST00000389173.2_Missense_Mutation_p.G891S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	891	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GACTTTGGCAGGTGTGGTCAA	0.517000													5	214					0	0	1	0	0
PAPOLB	56903	broad.mit.edu	37	7	4900082	4900082	+	Missense_Mutation	SNP	T	T	A	rs118093265	by1000genomes	TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr7:4900082T>A	ENST00000404991.1	-	1	1543	c.1357A>T	c.(1357-1359)Agc>Tgc	p.S453C	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	453					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AGATCAATGCTGAGAATTTCA	0.373000													7	128					0	0	1	0	0
EIF4E2	9470	broad.mit.edu	37	2	233431800	233431800	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr2:233431800T>C	ENST00000409514.1	+	6	583	c.541T>C	c.(541-543)Tca>Cca	p.S181P	EIF4E2_ENST00000409167.3_Missense_Mutation_p.S136P|EIF4E2_ENST00000409394.1_Missense_Mutation_p.S136P|EIF4E2_ENST00000409098.1_Missense_Mutation_p.S181P|EIF4E2_ENST00000258416.3_Missense_Mutation_p.S181P|EIF4E2_ENST00000409495.1_Missense_Mutation_p.S181P|EIF4E2_ENST00000409322.1_Missense_Mutation_p.S136P	NM_001282958.1	NP_001269887.1	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	181					regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGACATTATTTCAATATGGAA	0.493000													15	73					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7690871	7690871	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr5:7690871G>C	ENST00000338316.4	+	5	877	c.788G>C	c.(787-789)aGg>aCg	p.R263T	ADCY2_ENST00000537121.1_Missense_Mutation_p.R83T|ADCY2_ENST00000513693.1_3'UTR	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	263					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ATCATCCAGAGGCTGCAGGGC	0.562000													5	54					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137716455	137716455	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr9:137716455G>A	ENST00000371817.3	+	62	5122	c.4708G>A	c.(4708-4710)Gga>Aga	p.G1570R		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1570	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGCCCCCCGGGAGAGGTCAT	0.652000													5	31					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228464949	228464950	+	Frame_Shift_Ins	INS	-	-	G			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr1:228464949_228464950insG	ENST00000570156.2	+	28	7888_7889	c.7814_7815insG	c.(7813-7818)gcggatfs	p.D2606fs	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Frame_Shift_Ins_p.D1078fs|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Frame_Shift_Ins_p.D2231fs|OBSCN_ENST00000284548.11_Frame_Shift_Ins_p.D2231fs	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1600	Ig-like 25.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.A2230A(2)|p.A2414A(1)|p.A2513A(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCGAGTTCGCGGATCAGGGAG	0.639													7	18	---	---	---	---					
POLQ	10721	broad.mit.edu	37	3	121207969	121207969	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr3:121207969delG	ENST00000264233.5	-	16	3937	c.3809delC	c.(3808-3810)ccafs	p.P1270fs		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1270					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCCAGCTGATGGAAGTACTTC	0.348								DNA polymerases (catalytic subunits)					7	190	---	---	---	---					
LOC101927237	101927237	broad.mit.edu	37	4	68311853	68311855	+	RNA	DEL	GAG	GAG	-			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr4:68311853_68311855delGAG	ENST00000502400.1	-	0	34																											TCTCTATGGCGAGGAGGAGGAGG	0.547													2	4	---	---	---	---					
RP11-125O18.1	0	broad.mit.edu	37	4	128207200	128207202	+	RNA	DEL	GAG	GAG	-			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr4:128207200_128207202delGAG	ENST00000504050.1	-	0	368																											GAATgaggaagaggaggaggagg	0.335													2	4	---	---	---	---					
ERBB2IP	55914	broad.mit.edu	37	5	65346627	65346628	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr5:65346627_65346628delAG	ENST00000284037.5	+	20	2309_2310	c.1920_1921delAG	c.(1918-1923)acagatfs	p.D641fs	ERBB2IP_ENST00000380938.2_Frame_Shift_Del_p.D641fs|ERBB2IP_ENST00000380939.2_Frame_Shift_Del_p.D641fs|ERBB2IP_ENST00000380935.1_Frame_Shift_Del_p.D641fs|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000506030.1_Frame_Shift_Del_p.D641fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Del_p.D637fs|ERBB2IP_ENST00000508515.1_Frame_Shift_Del_p.D641fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Del_p.D641fs|ERBB2IP_ENST00000380936.1_Frame_Shift_Del_p.D641fs	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	641					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CAAAGGAAACAGATTCTTTATC	0.312													11	80	---	---	---	---					
SOBP	55084	broad.mit.edu	37	6	107956280	107956282	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr6:107956280_107956282delGCC	ENST00000317357.5	+	6	2891_2893	c.2232_2234delGCC	c.(2230-2235)cagccg>cag	p.P751del	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	751	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CTCCCGAGCAgccgccgccgccg	0.749													2	4	---	---	---	---					
LINC01239	441389	broad.mit.edu	37	9	22823496	22823497	+	RNA	INS	-	-	C	rs146924324	by1000genomes	TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr9:22823496_22823497insC	ENST00000436786.1	+	0	1631_1632					NR_038977.1																						acttgggttttctgttgagatg	0.520													5	4	---	---	---	---					
ATP12A	479	broad.mit.edu	37	13	25268647	25268648	+	Frame_Shift_Del	DEL	TG	TG	-	rs150118663		TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr13:25268647_25268648delTG	ENST00000218548.6	+	11	1794_1795	c.1461_1462delTG	c.(1459-1464)gatgtgfs	p.V488fs	ATP12A_ENST00000381946.3_Frame_Shift_Del_p.V482fs	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	482					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TTTTGGGTGATGTGATGGAAAT	0.366											OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	115	---	---	---	---					
FRY	10129	broad.mit.edu	37	13	32828466	32828467	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr13:32828466_32828467delAG	ENST00000380250.3	+	51	7847_7848	c.7351_7352delAG	c.(7351-7353)agcfs	p.S2451fs		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGACACAAACAGCGAGCAGCAG	0.500													10	137	---	---	---	---					
ATG2B	55102	broad.mit.edu	37	14	96829275	96829275	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr14:96829275delG	ENST00000359933.4	-	1	932	c.39delC	c.(37-39)gccfs	p.A13fs		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	13										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGTACCGGCAGGCCCTCTTCT	0.647													13	78	---	---	---	---					
TEFM	79736	broad.mit.edu	37	17	29226288	29226289	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr17:29226288_29226289delTC	ENST00000581216.1	-	4	1602_1603	c.981_982delGA	c.(979-984)cagatgfs	p.QM327fs	TEFM_ENST00000580840.1_3'UTR	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	327					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding										GATAAAAACATCTGTCTGTAGT	0.381													7	154	---	---	---	---					
KRTAP9-4	85280	broad.mit.edu	37	17	39406365	39406365	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr17:39406365delC	ENST00000334109.2	+	1	427	c.393delC	c.(391-393)cgcfs	p.R131fs		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	131	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					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)			CCTGCTGCCGCCCAGCCTGCT	0.577													15	192	---	---	---	---					
ZNF226	7769	broad.mit.edu	37	19	44680560	44680561	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr19:44680560_44680561delAG	ENST00000590089.1	+	7	1512_1513	c.1145_1146delAG	c.(1144-1146)cagfs	p.Q382fs	ZNF226_ENST00000454662.2_Frame_Shift_Del_p.Q382fs|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Frame_Shift_Del_p.Q382fs			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				CAGGACCATCAGAGACTCCACA	0.475													18	107	---	---	---	---					
GP6	51206	broad.mit.edu	37	19	55530035	55530036	+	Frame_Shift_Del	DEL	CG	CG	-	rs1654416	by1000genomes	TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chr19:55530035_55530036delCG	ENST00000310373.3	-	6	735_736	c.708_709delCG	c.(706-711)aacgaafs	p.NE236fs	GP6_ENST00000333884.2_Frame_Shift_Del_p.NE218fs|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000417454.1_Frame_Shift_Del_p.NE236fs|CTC-550B14.7_ENST00000586845.1_RNA	NM_001083899.1	NP_001077368	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	236					enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		GTGAAGACTTCGTTTGTGAATG	0.450													7	135	---	---	---	---					
CA5BP1	340591	broad.mit.edu	37	X	15699130	15699130	+	RNA	DEL	G	G	-			TCGA-UY-A9PA-01A-11D-A38G-08	TCGA-UY-A9PA-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6	a2440235-aa6f-4545-a323-90e06eb7964a	g.chrX:15699130delG	ENST00000380334.2	+	0	27																											CTAGGTTATTGGGTTCCTGCA	0.443													2	4	---	---	---	---					
