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
RYR1	6261	broad.mit.edu	37	19	38954415	38954415	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:38954415C>G	ENST00000355481.4	+	22	2842	c.2711C>G	c.(2710-2712)cCg>cGg	p.P904R	RYR1_ENST00000360985.3_Missense_Mutation_p.P904R|RYR1_ENST00000359596.3_Missense_Mutation_p.P904R	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	904	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.P904Q(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGCTGCACCCGTGTCTTGTG	0.592000													7	54					0	0	0.000442599	0	0
ARID1B	57492	broad.mit.edu	37	6	157469899	157469899	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:157469899G>A	ENST00000346085.5	+	9	2694	c.2693G>A	c.(2692-2694)cGa>cAa	p.R898Q	ARID1B_ENST00000275248.4_Missense_Mutation_p.R827Q|ARID1B_ENST00000350026.5_Missense_Mutation_p.R885Q|ARID1B_ENST00000367148.1_Missense_Mutation_p.R885Q	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	885					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCCCTGGGACGAATGCCATCA	0.587000													16	67					0	0	0.000958276	0	0
MYT1L	23040	broad.mit.edu	37	2	1926227	1926227	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:1926227G>A	ENST00000399161.2	-	10	2061	c.1314C>T	c.(1312-1314)atC>atT	p.I438I	MYT1L_ENST00000428368.2_Silent_p.I438I	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	438					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTTCCAAAGCGATGGCTTTCT	0.547000													20	89					0	0	0.00229938	0	0
C12orf50	160419	broad.mit.edu	37	12	88391963	88391963	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:88391963G>A	ENST00000298699.2	-	4	318	c.138C>T	c.(136-138)atC>atT	p.I46I	C12orf50_ENST00000550553.1_Silent_p.I46I	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	46										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TCTGTAGTGTGATATCTGCAG	0.373000													5	22					0	0	0.00198382	0	0
OR2A5	393046	broad.mit.edu	37	7	143748358	143748358	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:143748358G>A	ENST00000408906.2	+	1	898	c.864G>A	c.(862-864)ttG>ttA	p.L288L		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGAACCCCTTGATCTATAGCC	0.527000													11	71					0	0	0.000308642	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657627	46657627	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:46657627C>T	ENST00000253255.5	-	1	1592	c.1593G>A	c.(1591-1593)ttG>ttA	p.L531L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	531	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ACTCAGCTTCCAAAAAATGCC	0.428000													29	165					0	0	0.00127121	0	0
ANK2	287	broad.mit.edu	37	4	114275534	114275534	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:114275534G>A	ENST00000357077.4	+	38	5813	c.5760G>A	c.(5758-5760)ggG>ggA	p.G1920G	ANK2_ENST00000264366.6_Silent_p.G1887G|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1887	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CGCCCTCCGGGAGGACAGAAA	0.517000													6	16					0	0	0.00198382	0	0
RGS11	8786	broad.mit.edu	37	16	319515	319515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:319515C>T	ENST00000397770.3	-	16	1293	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	ARHGDIG_ENST00000464609.1_Intron|ITFG3_ENST00000600536.1_Intron|RGS11_ENST00000316163.5_Missense_Mutation_p.E405K|ITFG3_ENST00000442458.2_Intron|RGS11_ENST00000359740.5_Missense_Mutation_p.E415K			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	426					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CTCTTCATCTCCAGCGGGATC	0.657000													6	41					0	0	0.000157383	0	0
CCDC83	220047	broad.mit.edu	37	11	85606413	85606413	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:85606413G>A	ENST00000280245.4	+	6	1101	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	CCDC83_ENST00000342404.3_Missense_Mutation_p.E197K|CCDC83_ENST00000529676.2_3'UTR|CCDC83_ENST00000376067.1_Missense_Mutation_p.E98K	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	197										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CCAAAAGAAGGAATGGGCCAC	0.284000													21	116					0	0	0.00047179	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558979	140558979	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140558979C>T	ENST00000239444.2	+	1	1609	c.1364C>T	c.(1363-1365)aCc>aTc	p.T455I		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		455					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)			TTCACCCAAACCTCCTACACC	0.607000													11	395					0	0	0.000422831	0	0
GIT1	28964	broad.mit.edu	37	17	27909958	27909958	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:27909958G>A	ENST00000225394.3	-	3	532	c.284C>T	c.(283-285)cCc>cTc	p.P95L	GIT1_ENST00000394869.3_Missense_Mutation_p.P95L|GIT1_ENST00000581348.1_Missense_Mutation_p.P95L|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Missense_Mutation_p.P95L	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	95	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TTTGTCTTGGGGGTTGGCTTT	0.662000													4	28					0	0	0.000602214	0	0
SCAND3	114821	broad.mit.edu	37	6	28543161	28543161	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:28543161C>T	ENST00000452236.2	-	3	1938	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	441	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.E441K(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CTTGAAAATTCCCTCCCATTG	0.418000													11	35					0	0	0.00136819	0	0
C19orf18	147685	broad.mit.edu	37	19	58485727	58485727	+	Missense_Mutation	SNP	G	G	A	rs150585544		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:58485727G>A	ENST00000314391.3	-	1	175	c.74C>T	c.(73-75)cCg>cTg	p.P25L		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	25						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		ATCTGCATACGGCAAGCATAA	0.398000													12	46					0	0	0.000978159	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576468	33576468	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:33576468G>A	ENST00000504830.1	-	19	3998	c.3663C>T	c.(3661-3663)ctC>ctT	p.L1221L	ADAMTS12_ENST00000352040.3_Silent_p.L1136L	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1221	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTTGGCTGGGGAGCAGTCCTT	0.557000										HNSCC(64;0.19)			7	82					0	0	0.000157383	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835989	12835989	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:12835989G>A	ENST00000357726.4	+	2	618	c.591G>A	c.(589-591)ctG>ctA	p.L197L		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	197										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TAGAGGTCCTGAACACGGTGG	0.522000													16	124					0	0	0.00074312	0	0
PCDHA7	56141	broad.mit.edu	37	5	140214166	140214166	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140214166G>A	ENST00000525929.1	+	1	198	c.198G>A	c.(196-198)gcG>gcA	p.A66A	PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.A66A	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCCGGGCGGTGTGCAAAT	0.622000													17	115					0	0	0.000958276	0	0
ZC3H6	376940	broad.mit.edu	37	2	113080360	113080360	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:113080360C>T	ENST00000409871.1	+	9	1622	c.1221C>T	c.(1219-1221)ccC>ccT	p.P407P	ZC3H6_ENST00000343936.4_Silent_p.P407P	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	407	Pro-rich.						nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AGCATTTTCCCTTTTCTGATC	0.413000													21	196					0	0	0.00047179	0	0
BRINP2	57795	broad.mit.edu	37	1	177249609	177249609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:177249609C>T	ENST00000361539.4	+	8	1609	c.1297C>T	c.(1297-1299)Cct>Tct	p.P433S	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		433						extracellular region		p.P433S(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						AAGCACCTTTCCTGGCACTTT	0.562000													5	33					0	0	0.000602214	0	0
VWA5A	4013	broad.mit.edu	37	11	124007367	124007367	+	Silent	SNP	C	C	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:124007367C>A	ENST00000456829.2	+	14	1862	c.1611C>A	c.(1609-1611)ccC>ccA	p.P537P	VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Silent_p.P537P	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	537										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CTCTACAACCCAAGCCTGATG	0.463000													6	80					0.00198382	0.00856191	0.00198382	1	0
C3orf67	200844	broad.mit.edu	37	3	58870302	58870302	+	Silent	SNP	G	G	A	rs143276468		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:58870302G>A	ENST00000472469.1	-	6	907	c.69C>T	c.(67-69)ttC>ttT	p.F23F	RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000482387.1_Silent_p.F103F|RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000295966.7_Silent_p.F103F			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	103										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GATGGCCTCCGAATTTTATTT	0.408000													18	110					0	0	0.00188189	0	0
PHF2	5253	broad.mit.edu	37	9	96428031	96428031	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:96428031G>A	ENST00000359246.4	+	15	2368	c.2001G>A	c.(1999-2001)gaG>gaA	p.E667E	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	667					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		ACTTCAAGGAGGACAAGCCCA	0.587000													17	52					0	0	0.000566183	0	0
CMPK2	129607	broad.mit.edu	37	2	6990019	6990019	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:6990019C>T	ENST00000256722.5	-	5	1311	c.1312G>A	c.(1312-1314)Gta>Ata	p.V438I	CMPK2_ENST00000478738.1_5'UTR|CMPK2_ENST00000458098.1_Intron	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	438					dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGGCTTAATACCGTCTGCAGG	0.488000													12	97					0	0	0.00136819	0	0
PIEZO2	63895	broad.mit.edu	37	18	10681664	10681664	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:10681664C>T	ENST00000302079.6	-	46	7244	c.7245G>A	c.(7243-7245)agG>agA	p.R2415R	PIEZO2_ENST00000503781.3_Silent_p.R2478R|PIEZO2_ENST00000538948.1_Silent_p.R435R|PIEZO2_ENST00000580640.1_Silent_p.R2503R|PIEZO2_ENST00000285141.4_Silent_p.R270R			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2478						integral to membrane	ion channel activity										TTACGGTGTCCCTAGAAAAAG	0.403000													10	93					0	0	0.00136819	0	0
KIFC3	3801	broad.mit.edu	37	16	57798150	57798150	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:57798150C>T	ENST00000379655.4	-	12	1779	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	KIFC3_ENST00000543930.1_Splice_Site_p.E366_splice|KIFC3_ENST00000541240.1_Missense_Mutation_p.E530K|KIFC3_ENST00000540079.2_Missense_Mutation_p.E406K|KIFC3_ENST00000562903.1_Missense_Mutation_p.E369K|KIFC3_ENST00000539578.1_Missense_Mutation_p.E450K|KIFC3_ENST00000465878.2_Missense_Mutation_p.E369K|KIFC3_ENST00000445690.2_Missense_Mutation_p.E508K|KIFC3_ENST00000421376.2_Missense_Mutation_p.E369K	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	508	Kinesin-motor.				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GCCTGCACCTCCTGGAACACC	0.642000													5	14					0	0	0.000602214	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36207734	36207734	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:36207734G>A	ENST00000258840.6	-	12	1962	c.1572C>T	c.(1570-1572)acC>acT	p.T524T	RALGAPA1_ENST00000389698.3_Silent_p.T524T|RALGAPA1_ENST00000307138.6_Silent_p.T524T|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000382366.3_Silent_p.T524T			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	524					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAACTGCCTGGGTACCAGCTC	0.373000													7	49					0	0	0.00198382	0	0
PAK7	57144	broad.mit.edu	37	20	9546830	9546830	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:9546830C>T	ENST00000378429.3	-	6	1738	c.1192G>A	c.(1192-1194)Gct>Act	p.A398T	PAK7_ENST00000378423.1_Missense_Mutation_p.A398T|PAK7_ENST00000353224.5_Missense_Mutation_p.A398T	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	398	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGGTAGGAAGCCGTGGAGATG	0.617000													6	48					0	0	0.00116845	0	0
CMPK2	129607	broad.mit.edu	37	2	6990018	6990018	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:6990018A>G	ENST00000256722.5	-	5	1312	c.1313T>C	c.(1312-1314)gTa>gCa	p.V438A	CMPK2_ENST00000478738.1_5'UTR|CMPK2_ENST00000458098.1_Intron	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	438					dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TAGGCTTAATACCGTCTGCAG	0.488000													12	95					0	0	0.00136819	0	0
OPN4	94233	broad.mit.edu	37	10	88418312	88418312	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:88418312C>T	ENST00000372071.2	+	5	756	c.529C>T	c.(529-531)Ctg>Ttg	p.L177L	OPN4_ENST00000241891.5_Silent_p.L166L	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	166					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GGCCATCGCCCTGGACCGCTA	0.607000													4	37					0	0	0.00024832	0	0
UNC13C	440279	broad.mit.edu	37	15	54305180	54305180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:54305180G>A	ENST00000545554.1	+	1	80	c.80G>A	c.(79-81)gGa>gAa	p.G27E	UNC13C_ENST00000537900.1_Missense_Mutation_p.G27E|UNC13C_ENST00000260323.11_Missense_Mutation_p.G27E			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	27					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAGAAATTGGGAAATACAAAC	0.368000													10	48					0	0	0.000673444	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763543	92763543	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:92763543G>A	ENST00000318238.4	-	5	2958	c.1742C>T	c.(1741-1743)tCt>tTt	p.S581F	SAMD9L_ENST00000437805.1_Missense_Mutation_p.S581F|SAMD9L_ENST00000411955.1_Missense_Mutation_p.S581F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	581								p.S581F(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAGTTTACAGAGATACACAA	0.353000													7	77					0	0	0.000157383	0	0
CCDC136	64753	broad.mit.edu	37	7	128450282	128450282	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:128450282G>A	ENST00000297788.4	+	12	2257	c.1890G>A	c.(1888-1890)caG>caA	p.Q630Q	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	630						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						AGCTGATACAGAACCAAGACT	0.473000													6	23					0	0	0.000157383	0	0
ADCY10	55811	broad.mit.edu	37	1	167798662	167798662	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:167798662C>T	ENST00000367848.1	-	26	3815		c.e26-1		ADCY10_ENST00000485964.1_Splice_Site|ADCY10_ENST00000367851.4_Splice_Site|ADCY10_ENST00000545172.1_Splice_Site			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)						intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CCTCTTCTTCCTATTGGATAA	0.443000													17	48					0	0	0.00188189	0	0
PTPRT	11122	broad.mit.edu	37	20	40944562	40944562	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:40944562G>A	ENST00000373198.3	-	12	2175	c.1940C>T	c.(1939-1941)tCg>tTg	p.S647L	PTPRT_ENST00000373184.1_Missense_Mutation_p.S647L|PTPRT_ENST00000373187.1_Missense_Mutation_p.S647L|PTPRT_ENST00000373190.1_Missense_Mutation_p.S647L|PTPRT_ENST00000373193.3_Missense_Mutation_p.S647L|PTPRT_ENST00000373201.1_Missense_Mutation_p.S647L|PTPRT_ENST00000356100.2_Missense_Mutation_p.S647L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	647	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CACGGGCACCGAAAAGCACTC	0.517000													11	54					0	0	0.000978159	0	0
PTCHD2	57540	broad.mit.edu	37	1	11574471	11574471	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:11574471G>A	ENST00000294484.6	+	4	1479	c.1341G>A	c.(1339-1341)ggG>ggA	p.G447G	PTCHD2_ENST00000389575.3_Silent_p.G447G	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	447					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCTATGGGGGGACAGACCTGT	0.512000													21	58					0	0	0.00188189	0	0
ABCA13	154664	broad.mit.edu	37	7	48411920	48411920	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:48411920T>A	ENST00000435803.1	+	33	10983	c.10959T>A	c.(10957-10959)ttT>ttA	p.F3653L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3653					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTTCCTCTTTCTCTTGGATT	0.458000													11	157					0	0	0.00185496	0	0
ESM1	11082	broad.mit.edu	37	5	54277897	54277897	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:54277897C>T	ENST00000381405.4	-	2	524	c.379G>A	c.(379-381)Gga>Aga	p.G127R	ESM1_ENST00000381403.4_Intron|ESM1_ENST00000598310.1_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	127					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			AGGCATTTTCCCGTCCCCCTG	0.493000													9	58					0	0	0.000673444	0	0
OR2A12	346525	broad.mit.edu	37	7	143792644	143792644	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:143792644G>A	ENST00000408949.2	+	1	504	c.444G>A	c.(442-444)tgG>tgA	p.W148*		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W148C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CAACTTGCTGGATATTTAGCT	0.443000													18	132					0	0	0.00074312	0	0
JAK2	3717	broad.mit.edu	37	9	5089711	5089711	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:5089711C>T	ENST00000381652.3	+	20	3103	c.2609C>T	c.(2608-2610)cCt>cTt	p.P870L	JAK2_ENST00000544510.1_Missense_Mutation_p.P721L|JAK2_ENST00000539801.1_Missense_Mutation_p.P870L	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	870	Protein kinase 2.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		CGGTATGACCCTCTACAGGAC	0.403000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				9	53					0	0	0.000673444	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997054	82997054	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:82997054C>T	ENST00000307792.3	-	17	2643	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K	SEMA3E_ENST00000427262.1_Missense_Mutation_p.E666K	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	726					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CAGTATTCTTCCACTCTCTGG	0.463000													25	85					0	0	0.000720815	0	0
DRD2	1813	broad.mit.edu	37	11	113285125	113285125	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:113285125C>T	ENST00000362072.3	-	6	1126	c.782G>A	c.(781-783)gGg>gAg	p.G261E	DRD2_ENST00000544518.1_Missense_Mutation_p.G260E|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000355319.2_Missense_Mutation_p.G261E|DRD2_ENST00000346454.3_Intron|DRD2_ENST00000538967.1_Missense_Mutation_p.G261E|DRD2_ENST00000542968.1_Missense_Mutation_p.G261E	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	261	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	TGGGAAACTCCCATTAGACTT	0.567000													18	120					0	0	0.00152264	0	0
OR8D2	283160	broad.mit.edu	37	11	124189785	124189785	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:124189785G>A	ENST00000357438.2	-	1	399	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AAATAAGGAAGAAATAAAGTT	0.403000													5	18					0	0	0.000602214	0	0
MYO7B	4648	broad.mit.edu	37	2	128393813	128393813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:128393813G>A	ENST00000389524.4	+	44	6015	c.5962G>A	c.(5962-5964)Gac>Aac	p.D1988N	MYO7B_ENST00000409816.2_Missense_Mutation_p.D1987N|MYO7B_ENST00000428314.1_Missense_Mutation_p.D1987N|MYO7B_ENST00000409090.1_Missense_Mutation_p.D840N			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1987	FERM 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAAGCATAAGGACAAGACAGT	0.607000													12	69					0	0	0.000308642	0	0
PRKCB	5579	broad.mit.edu	37	16	24226094	24226094	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:24226094C>T	ENST00000303531.7	+	17	2131	c.1979C>T	c.(1978-1980)tCc>tTc	p.S660F	PRKCB_ENST00000321728.7_Intron	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	661	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GAAGGATTTTCCTTTGTTAAC	0.428000													19	82					0	0	0.00152264	0	0
OR51A4	401666	broad.mit.edu	37	11	4967879	4967879	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:4967879G>A	ENST00000380373.2	-	1	477	c.452C>T	c.(451-453)tCc>tTc	p.S151F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTCTTAAAGGAGAATACTAT	0.423000													11	99					0	0	0.000958276	0	0
SENP2	59343	broad.mit.edu	37	3	185332406	185332406	+	Missense_Mutation	SNP	C	C	T	rs145126254		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:185332406C>T	ENST00000296257.5	+	11	1228	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	SENP2_ENST00000545472.1_Missense_Mutation_p.R320C|SENP2_ENST00000427465.2_Missense_Mutation_p.R154C	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	330					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	p.L330F(1)|p.R330C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GGCCCGACTCCGCCTGGGCAG	0.458000													20	302					0	0	0.00278032	0	0
SNTG1	54212	broad.mit.edu	37	8	51569552	51569552	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:51569552G>A	ENST00000522124.1	+	14	1594	c.933G>A	c.(931-933)agG>agA	p.R311R	SNTG1_ENST00000518864.1_Silent_p.R311R|SNTG1_ENST00000276467.5_Silent_p.R311R|SNTG1_ENST00000517473.1_Silent_p.R311R	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	311	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TGGCCCTGAGGGGCTCATGTC	0.483000													8	60					0	0	0.000274275	0	0
ZFP14	57677	broad.mit.edu	37	19	36831250	36831250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:36831250G>A	ENST00000270001.7	-	5	1593	c.1478C>T	c.(1477-1479)tCa>tTa	p.S493L		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					AGTAAGAAATGAATAAAGTCT	0.403000													12	34					0	0	0.000978159	0	0
SLC16A9	220963	broad.mit.edu	37	10	61414278	61414278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:61414278C>T	ENST00000395348.3	-	5	1142	c.506G>A	c.(505-507)gGa>gAa	p.G169E	SLC16A9_ENST00000395347.1_Missense_Mutation_p.G169E	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	169					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CAGCAAGCATCCATCCAGTCC	0.438000													8	106					0	0	0.00136819	0	0
CLCN3	1182	broad.mit.edu	37	4	170601285	170601285	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:170601285T>C	ENST00000513761.1	+	3	804	c.245T>C	c.(244-246)gTt>gCt	p.V82A	CLCN3_ENST00000347613.4_Missense_Mutation_p.V82A|CLCN3_ENST00000360642.3_Missense_Mutation_p.V82A|CLCN3_ENST00000504131.2_Missense_Mutation_p.V65A	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	82					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)		ATTCCAGGTGTTGGTACATAT	0.348000													6	87					0	0	0.00116845	0	0
MUSK	4593	broad.mit.edu	37	9	113530113	113530113	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:113530113G>A	ENST00000416899.2	+	8	1060	c.934G>A	c.(934-936)Gat>Aat	p.D312N	MUSK_ENST00000189978.5_Missense_Mutation_p.D312N|MUSK_ENST00000374448.4_Missense_Mutation_p.D312N			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	312	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ACCACAGAAAGATAACAAAGG	0.403000													17	56					0	0	0.00188189	0	0
FOLR3	2352	broad.mit.edu	37	11	71847057	71847057	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:71847057G>A	ENST00000445078.2	+	2	124	c.53G>A	c.(52-54)gGg>gAg	p.G18E	FOLR3_ENST00000456237.1_Missense_Mutation_p.G20E|FOLR3_ENST00000442948.2_Missense_Mutation_p.G20E			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	18					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	ACTGCTGCGGGGAGTGCCCAG	0.617000													19	122					0	0	0.00152264	0	0
ITSN1	6453	broad.mit.edu	37	21	35166652	35166652	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:35166652G>A	ENST00000381318.3	+	17	2120	c.1832G>A	c.(1831-1833)aGa>aAa	p.R611K	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.R611K|ITSN1_ENST00000437442.2_Missense_Mutation_p.R611K|ITSN1_ENST00000399326.3_Missense_Mutation_p.R611K|ITSN1_ENST00000399367.3_Missense_Mutation_p.R611K|ITSN1_ENST00000381291.4_Missense_Mutation_p.R611K|ITSN1_ENST00000399338.4_Missense_Mutation_p.R611K|ITSN1_ENST00000399355.2_Missense_Mutation_p.R611K|ITSN1_ENST00000381285.4_Missense_Mutation_p.R611K|ITSN1_ENST00000399353.1_Missense_Mutation_p.R574K|ITSN1_ENST00000399352.1_Missense_Mutation_p.R611K|ITSN1_ENST00000379960.5_Missense_Mutation_p.R611K	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	611	KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TAGGAACTAAGAGAAATACAC	0.373000													14	43					0	0	0.000422831	0	0
FETUB	26998	broad.mit.edu	37	3	186362558	186362558	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:186362558A>T	ENST00000265029.3	+	4	544	c.443A>T	c.(442-444)tAc>tTc	p.Y148F	FETUB_ENST00000450521.1_Missense_Mutation_p.Y148F|FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382136.3_Missense_Mutation_p.Y111F|RP11-134F2.2_ENST00000455926.1_RNA|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Missense_Mutation_p.Y83F	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	148						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		AAAAAGATTTACATGACGTGC	0.408000													7	85					0	0	0.000157383	0	0
CATSPERD	257062	broad.mit.edu	37	19	5744516	5744516	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:5744516G>A	ENST00000381624.3	+	8	713	c.652G>A	c.(652-654)Ggg>Agg	p.G218R	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	218						integral to membrane											AGTGAATCAAGGGAAGGTAAG	0.393000													14	64					0	0	0.00244969	0	0
MUC16	94025	broad.mit.edu	37	19	9062517	9062517	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9062517C>T	ENST00000397910.4	-	3	25132	c.24929G>A	c.(24928-24930)aGg>aAg	p.R8310K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8312	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						TATGCCCATCCTGTCTGTGGT	0.478000													6	45					0	0	0.00116845	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32974861	32974861	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:32974861G>A	ENST00000229829.5	-	4	820	c.745C>T	c.(745-747)Ccc>Tcc	p.P249S	HLA-DOA_ENST00000450833.2_Intron	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	249					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						CTGCACCTGGGGACACTGGAC	0.617000													6	72					0	0	0.00198382	0	0
CLSTN3	9746	broad.mit.edu	37	12	7288818	7288818	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:7288818C>T	ENST00000537408.1	+	5	1333	c.795C>T	c.(793-795)atC>atT	p.I265I	CLSTN3_ENST00000266546.6_Silent_p.I253I			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	253					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ACAAAAGGATCGAATATGCAC	0.552000													17	54					0	0	0.00121646	0	0
ABCA4	24	broad.mit.edu	37	1	94473280	94473280	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:94473280C>T	ENST00000370225.3	-	43	6001	c.5915G>A	c.(5914-5916)gGa>gAa	p.G1972E	ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000536513.1_Missense_Mutation_p.G242E|ABCA4_ENST00000535881.1_Missense_Mutation_p.G91E	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1972	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ACCATTCACTCCCAGGAGGCC	0.542000													9	58					0	0	0.000274275	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131798976	131798976	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:131798976G>A	ENST00000392953.3	+	9	1797	c.1278G>A	c.(1276-1278)aaG>aaA	p.K426K	ARHGEF4_ENST00000525839.1_Silent_p.K426K|ARHGEF4_ENST00000409303.1_Silent_p.K366K|ARHGEF4_ENST00000355771.3_Silent_p.K355K|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000326016.5_Silent_p.K426K	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	426	DH.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CGGTGCAGAAGATCTGCAAGT	0.602000													7	22					0	0	0.000442599	0	0
ZNF227	7770	broad.mit.edu	37	19	44739314	44739314	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:44739314C>T	ENST00000313040.7	+	6	936	c.731C>T	c.(730-732)cCc>cTc	p.P244L	ZNF227_ENST00000391961.2_Missense_Mutation_p.P193L|ZNF227_ENST00000589005.1_Missense_Mutation_p.P193L	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CAGAAATTACCCTTAGGAGAG	0.428000													5	37					0	0	0.000602214	0	0
CTSF	8722	broad.mit.edu	37	11	66334760	66334760	+	Silent	SNP	C	C	T	rs140630766		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:66334760C>T	ENST00000310325.5	-	4	673	c.564G>A	c.(562-564)aaG>aaA	p.K188K	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	188					proteolysis	lysosome	cysteine-type endopeptidase activity	p.K188N(1)		endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TGACAAAGTTCTTGAAGATTG	0.498000													11	114					0	0	0.00136819	0	0
CACNA1E	777	broad.mit.edu	37	1	181764139	181764139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:181764139C>T	ENST00000526775.1	+	44	6146	c.5981C>T	c.(5980-5982)tCc>tTc	p.S1994F	CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1620F|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S2056F|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S2007F|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S1945F|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S2013F|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S2037F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2056					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGTTACCACTCCTCCTTGCGG	0.542000													6	35					0	0	0.000157383	0	0
MYO1A	4640	broad.mit.edu	37	12	57431350	57431350	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:57431350G>A	ENST00000442789.2	-	20	2324	c.2037C>T	c.(2035-2037)ttC>ttT	p.F679F	MYO1A_ENST00000544473.1_Silent_p.F517F|MYO1A_ENST00000300119.3_Silent_p.F679F	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	679	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GGCTTCTAATGAAGATCTTTG	0.537000													37	179					0	0	0.000680045	0	0
BPIFA1	51297	broad.mit.edu	37	20	31827688	31827688	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:31827688C>T	ENST00000354297.4	+	4	471	c.400C>T	c.(400-402)Cct>Tct	p.P134S	BPIFA1_ENST00000375422.2_Missense_Mutation_p.P134S|BPIFA1_ENST00000375413.4_Missense_Mutation_p.P134S	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	134					innate immune response	extracellular region	lipid binding										TGTCACCATCCCTCTCGGCAT	0.552000													13	88					0	0	0.00244969	0	0
EPHA4	2043	broad.mit.edu	37	2	222347164	222347164	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:222347164T>A	ENST00000281821.2	-	5	1267	c.1226A>T	c.(1225-1227)tAc>tTc	p.Y409F	EPHA4_ENST00000409854.1_Missense_Mutation_p.Y409F|EPHA4_ENST00000409938.1_Missense_Mutation_p.Y409F|EPHA4_ENST00000392071.4_Missense_Mutation_p.Y358F	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	409	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TTCAAAGGTGTAATTGGTATG	0.493000													34	188					0	0	0.00170553	0	0
TTN	7273	broad.mit.edu	37	2	179586652	179586652	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:179586652C>T	ENST00000589042.1	-	78	22962	c.22738G>A	c.(22738-22740)Gga>Aga	p.G7580R	TTN_ENST00000591111.1_Missense_Mutation_p.G7263R|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6336R|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7263	Ig-like 58.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGAGTCTCCTTTGCCTACT	0.418000													10	158					0	0	0.000442599	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768738	140768738	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140768738C>T	ENST00000519479.1	+	1	1287	c.1287C>T	c.(1285-1287)ccC>ccT	p.P429P	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGCCTCCCCTCTCCTCCA	0.488000													23	122					0	0	0.000586117	0	0
ESM1	11082	broad.mit.edu	37	5	54277969	54277969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:54277969G>A	ENST00000381405.4	-	2	452	c.307C>T	c.(307-309)Ccc>Tcc	p.P103S	ESM1_ENST00000381403.4_Intron|ESM1_ENST00000598310.1_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	103					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			GTGCCGTAGGGACAGTCTGGG	0.532000													5	37					0	0	0.000602214	0	0
EDNRA	1909	broad.mit.edu	37	4	148453754	148453754	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:148453754C>T	ENST00000324300.5	+	4	1160	c.645C>T	c.(643-645)atC>atT	p.I215I	EDNRA_ENST00000358556.4_Intron|EDNRA_ENST00000511804.1_5'UTR|EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000506066.1_Intron	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	215					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	TGTCCTTTATCCTGGCCATTC	0.463000													22	122					0	0	0.00047179	0	0
OR5K3	403277	broad.mit.edu	37	3	98109977	98109977	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:98109977C>T	ENST00000383695.1	+	1	468	c.468C>T	c.(466-468)ccC>ccT	p.P156P	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						ACCTGCATCCCATGATTGAAG	0.428000													12	70					0	0	0.00185496	0	0
TMEM182	130827	broad.mit.edu	37	2	103380863	103380863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:103380863C>T	ENST00000412401.2	+	3	513	c.308C>T	c.(307-309)tCg>tTg	p.S103L	TMEM182_ENST00000409528.1_Missense_Mutation_p.S7L|TMEM182_ENST00000409173.1_Missense_Mutation_p.S60L|TMEM182_ENST00000486293.1_3'UTR	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	103						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						GAGCACAACTCGACCTCCTAT	0.483000													14	64					0	0	0.00121646	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274173	103274173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:103274173C>T	ENST00000233969.2	+	2	582	c.440C>T	c.(439-441)cCa>cTa	p.P147L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	147						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TACCTCCTCCCACCCATCGTG	0.458000													30	166					0	0	0.0024448	0	0
PPFIA2	8499	broad.mit.edu	37	12	81746930	81746930	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:81746930C>T	ENST00000550584.2	-	16	2257	c.1962G>A	c.(1960-1962)caG>caA	p.Q654Q	PPFIA2_ENST00000407050.4_Silent_p.Q580Q|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Silent_p.Q501Q|PPFIA2_ENST00000548586.1_Silent_p.Q654Q|PPFIA2_ENST00000541570.2_Silent_p.Q221Q|PPFIA2_ENST00000443686.3_Silent_p.Q555Q|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000549396.1_Silent_p.Q654Q|PPFIA2_ENST00000549325.1_Silent_p.Q636Q|PPFIA2_ENST00000333447.7_Silent_p.Q636Q|PPFIA2_ENST00000552948.1_Silent_p.Q654Q	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	580										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCAATTGTTCCTGAAGCATCA	0.368000													10	65					0	0	0.000978159	0	0
TLK2	11011	broad.mit.edu	37	17	60678136	60678136	+	Silent	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:60678136T>C	ENST00000582809.1	+	19	1931	c.1228T>C	c.(1228-1230)Tta>Cta	p.L410L	TLK2_ENST00000346027.5_Silent_p.L559L|TLK2_ENST00000343388.7_Silent_p.L527L|TLK2_ENST00000326270.9_Silent_p.L581L|TLK2_ENST00000542523.1_Silent_p.L527L			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	581					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TTTAAAGTACTTAAATGAAAT	0.383000													15	44					0	0	0.000958276	0	0
PLOD1	5351	broad.mit.edu	37	1	12030738	12030738	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:12030738C>T	ENST00000196061.4	+	17	1794	c.1767C>T	c.(1765-1767)atC>atT	p.I589I	PLOD1_ENST00000376369.3_Silent_p.I636I	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	589					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	ACAACCGCATCCAGGGTGGCT	0.557000													5	37					0	0	0.00116845	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144867970	144867970	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:144867970C>T	ENST00000369359.4	-	36	5915	c.5877G>A	c.(5875-5877)ggG>ggA	p.G1959G	PDE4DIP_ENST00000530740.1_Silent_p.G1908G|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Silent_p.G1717G|PDE4DIP_ENST00000369354.3_Silent_p.G1823G|PDE4DIP_ENST00000369356.4_Silent_p.G1823G			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1823					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGGATAGGTCCCCAGATACAC	0.522000			T	PDGFRB	MPD								31	204					0	0	0.00111076	0	0
EOMES	8320	broad.mit.edu	37	3	27758656	27758656	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:27758656G>A	ENST00000295743.4	-	6	2169	c.1966C>T	c.(1966-1968)Ccc>Tcc	p.P656S	EOMES_ENST00000449599.1_Missense_Mutation_p.P675S|EOMES_ENST00000537516.1_Missense_Mutation_p.P380S			O95936	EOMES_HUMAN	eomesodermin	656	Required for transcription activation (By similarity).				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						TTTATGGAGGGTGAATTTTCA	0.423000													17	136					0	0	0.00121646	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994253	140994253	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:140994253C>T	ENST00000285879.4	+	4	1349	c.1063C>T	c.(1063-1065)Cag>Tag	p.Q355*	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	355							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTATTTTCCAGAGTTCTCC	0.478000										HNSCC(15;0.026)			11	76					0	0	0.00185496	0	0
ANGPT4	51378	broad.mit.edu	37	20	861886	861886	+	Silent	SNP	C	C	T	rs148851474		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:861886C>T	ENST00000381922.3	-	5	981	c.879G>A	c.(877-879)gaG>gaA	p.E293E	ANGPT4_ENST00000546022.1_Silent_p.E293E	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	293	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						AGCGCTGGATCTCTGCACAGT	0.572000													5	34					0	0	0.00198382	0	0
DPF2	5977	broad.mit.edu	37	11	65113820	65113820	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:65113820C>T	ENST00000528416.1	+	9	1140	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	DPF2_ENST00000252268.4_Missense_Mutation_p.S350F|DPF2_ENST00000415073.2_Intron	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	336					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TGCGGCACCTCCGAGAATGAC	0.517000													4	18					0	0	0.00024832	0	0
THSD7B	80731	broad.mit.edu	37	2	138169266	138169266	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:138169266C>T	ENST00000409968.1	+	14	2961	c.2783C>T	c.(2782-2784)tCc>tTc	p.S928F	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.S928F|THSD7B_ENST00000413152.2_Missense_Mutation_p.S897F					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAATTTATATCCCAACCTTAT	0.463000													11	86					0	0	0.00136819	0	0
ANKRD54	129138	broad.mit.edu	37	22	38229733	38229733	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:38229733G>A	ENST00000215941.4	-	4	697	c.505C>T	c.(505-507)Cct>Tct	p.P169S	ANKRD54_ENST00000498417.1_5'UTR|ANKRD54_ENST00000411961.2_Missense_Mutation_p.P153S|ANKRD54_ENST00000406423.1_Missense_Mutation_p.P49S	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	169										lung(1)	1	Melanoma(58;0.045)					CGCTGGTTAGGATCAGCACCA	0.537000													7	53					0	0	0.000157383	0	0
IQUB	154865	broad.mit.edu	37	7	123152079	123152079	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:123152079C>T	ENST00000466202.1	-	2	892	c.316G>A	c.(316-318)Gat>Aat	p.D106N	IQUB_ENST00000324698.6_Missense_Mutation_p.D106N|IQUB_ENST00000434450.1_Missense_Mutation_p.D106N|IQUB_ENST00000488987.1_Intron			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	106										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						AAACTATCATCATTTGGCCTC	0.373000													10	98					0	0	0.000673444	0	0
TNXB	7148	broad.mit.edu	37	6	32046939	32046939	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:32046939C>T	ENST00000375244.3	-	11	4447	c.4246G>A	c.(4246-4248)Gtg>Atg	p.V1416M	TNXB_ENST00000375247.2_Missense_Mutation_p.V1416M			P22105	TENX_HUMAN	tenascin XB	1503	Fibronectin type-III 6.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCAACACGCACCGCCCGGGGC	0.652000													26	140					0	0	0.000720815	0	0
NLRP10	338322	broad.mit.edu	37	11	7981482	7981482	+	Silent	SNP	C	C	T	rs138475841		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:7981482C>T	ENST00000328600.2	-	2	1838	c.1677G>A	c.(1675-1677)agG>agA	p.R559R		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	559							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AATCCCAGGTCCTGTTGTGCT	0.373000													6	112					0	0	0.00116845	0	0
EPAS1	2034	broad.mit.edu	37	2	46603782	46603782	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:46603782G>A	ENST00000263734.3	+	9	1649	c.1139G>A	c.(1138-1140)gGg>gAg	p.G380E		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	380					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	p.G380V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AGTGGCAAGGGGGCTGTGTCT	0.542000													18	74					0	0	0.000958276	0	0
KCTD8	386617	broad.mit.edu	37	4	44176879	44176879	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:44176879G>A	ENST00000360029.3	-	2	1633	c.1350C>T	c.(1348-1350)atC>atT	p.I450I		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	450						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CTGGAATGTGGATTTTTTTAA	0.378000										HNSCC(17;0.042)			14	91					0	0	0.00185496	0	0
TDRD5	163589	broad.mit.edu	37	1	179599956	179599956	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:179599956G>A	ENST00000444136.1	+	7	1277	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	TDRD5_ENST00000367614.1_Missense_Mutation_p.E343K|TDRD5_ENST00000294848.8_Missense_Mutation_p.E343K	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	343	Lotus/OST-HTH 3.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AAATGTGACAGAACTTGTTGG	0.373000													27	66					0	0	0.00127121	0	0
DYNAP	284254	broad.mit.edu	37	18	52265098	52265098	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:52265098C>T	ENST00000321600.1	+	3	401	c.355C>T	c.(355-357)Ctc>Ttc	p.L119F	DYNAP_ENST00000585973.1_Missense_Mutation_p.L67F	NM_173629.1	NP_775900.1			dynactin associated protein																		CCTGGCTTGTCTCTTAGCCTG	0.373000													7	56					0	0	0.000442599	0	0
FAM115C	285966	broad.mit.edu	37	7	143421619	143421619	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:143421619C>T	ENST00000441159.2	+	7	2400	c.2334C>T	c.(2332-2334)acC>acT	p.T778T	FAM115C_ENST00000425618.2_Silent_p.T497T|FAM115C_ENST00000411935.1_Silent_p.T674T|FAM115C_ENST00000409703.3_Silent_p.T674T|FAM115C_ENST00000444908.2_Silent_p.T778T|FAM115C_ENST00000411497.2_Silent_p.T497T|FAM115C_ENST00000357344.4_Silent_p.T778T			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	778										endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						CTGAGGCCACCTGTAACCTTT	0.607000													5	13					0	0	0.000602214	0	0
KRT77	374454	broad.mit.edu	37	12	53096993	53096993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:53096993C>T	ENST00000341809.3	-	1	254	c.226G>A	c.(226-228)Ggg>Agg	p.G76R	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	76	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GTGCTCCTCCCCATTAGATTA	0.587000													4	15					0	0	0.00024832	0	0
CATSPER2	117155	broad.mit.edu	37	15	43928403	43928403	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:43928403G>A	ENST00000396879.1	-	9	969	c.857C>T	c.(856-858)tCc>tTc	p.S286F	STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000354127.4_Missense_Mutation_p.S286F|CATSPER2_ENST00000355438.2_Missense_Mutation_p.S286F|CATSPER2_ENST00000321596.5_Missense_Mutation_p.S286F|CATSPER2_ENST00000381761.1_Missense_Mutation_p.S292F			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	286					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TGTTACCAGGGAATTCGGGAG	0.423000													12	123					0	0	0.00152264	0	0
DNAH1	25981	broad.mit.edu	37	3	52398871	52398871	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:52398871T>A	ENST00000420323.2	+	34	5615	c.5354T>A	c.(5353-5355)aTc>aAc	p.I1785N		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1785					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTCCGGGCCATCCGTGATGTG	0.637000													7	22					0	0	0.00198382	0	0
ZNF202	7753	broad.mit.edu	37	11	123600433	123600433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:123600433C>T	ENST00000336139.4	-	4	865	c.503G>A	c.(502-504)aGc>aAc	p.S168N	ZNF202_ENST00000530393.1_Missense_Mutation_p.S168N|ZNF202_ENST00000529691.1_Missense_Mutation_p.S168N			O95125	ZN202_HUMAN	zinc finger protein 202	168					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		GGGGGTCGAGCTTTGCACAGG	0.597000													5	45					0	0	0.00198382	0	0
AXL	558	broad.mit.edu	37	19	41727060	41727060	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:41727060C>T	ENST00000301178.4	+	3	508	c.318C>T	c.(316-318)tcC>tcT	p.S106S	AXL_ENST00000594880.1_3'UTR|AXL_ENST00000359092.3_Silent_p.S106S	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	106	Ig-like C2-type 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GAATCACCTCCCTGCAGCTTT	0.572000													6	34					0	0	0.00198382	0	0
BAI3	577	broad.mit.edu	37	6	69943248	69943248	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:69943248G>A	ENST00000370598.1	+	18	3368	c.2547G>A	c.(2545-2547)acG>acA	p.T849T	BAI3_ENST00000238918.8_Silent_p.T55T	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	849	GPS.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CATCCCATACGAAATGCTTAT	0.483000													9	101					0	0	0.000274275	0	0
DST	667	broad.mit.edu	37	6	56434769	56434769	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:56434769A>G	ENST00000370754.5	-	54	13669	c.13670T>C	c.(13669-13671)tTc>tCc	p.F4557S	DST_ENST00000421834.2_Missense_Mutation_p.F2291S|DST_ENST00000244364.6_Missense_Mutation_p.F1965S|DST_ENST00000370769.4_Missense_Mutation_p.F4379S|DST_ENST00000361203.3_Missense_Mutation_p.F4377S|DST_ENST00000370788.2_Missense_Mutation_p.F2291S|DST_ENST00000446842.2_Missense_Mutation_p.F4053S|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	4377					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAGAACTTGGAAAGCATCCAA	0.303000													12	58					0	0	0.000978159	0	0
LCT	3938	broad.mit.edu	37	2	136545943	136545943	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:136545943C>T	ENST00000264162.2	-	17	5745	c.5735G>A	c.(5734-5736)gGg>gAg	p.G1912E		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1912					carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTGTGTTTTCCCTTGCTTAGA	0.453000													31	187					0	0	0.000814825	0	0
CLUH	23277	broad.mit.edu	37	17	2607754	2607754	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:2607754G>A	ENST00000570628.1	-	2	196	c.91C>T	c.(91-93)Ccg>Tcg	p.P31S	CLUH_ENST00000538975.1_Missense_Mutation_p.P31S|CLUH_ENST00000435359.1_Missense_Mutation_p.P31S					clustered mitochondria (cluA/CLU1) homolog																		TCATCTCCCGGGCCGGCCTCG	0.622000													3	6					0	0	6.4e-05	0	0
IGKV1D-17	28900	broad.mit.edu	37	2	90122045	90122045	+	RNA	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:90122045G>A	ENST00000483379.1	+	0	444																											AGCGGCAGTGGATCTGGGACA	0.478000													13	92					0	0	0.00074312	0	0
KL	9365	broad.mit.edu	37	13	33635284	33635284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:33635284C>T	ENST00000380099.3	+	4	2076	c.2068C>T	c.(2068-2070)Ccg>Tcg	p.P690S	KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	690	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GATGAATGAGCCGTATACAAG	0.507000													15	46					0	0	0.000308642	0	0
PSG5	5673	broad.mit.edu	37	19	43680251	43680251	+	Silent	SNP	C	C	T	rs138774767		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:43680251C>T	ENST00000404580.1	-	3	568	c.480G>A	c.(478-480)gaG>gaA	p.E160E	PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Silent_p.E160E|PSG5_ENST00000366175.3_Silent_p.E160E|PSG5_ENST00000342951.6_Silent_p.E160E|PSG5_ENST00000599812.1_Silent_p.E253E			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	160	Ig-like C2-type 1.				female pregnancy	extracellular region		p.E160E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CATCCTTATTCTCCCTGGGTT	0.488000													38	167					0	0	0.0025221	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21427408	21427408	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:21427408G>A	ENST00000307378.6	-	15	2508	c.1788C>T	c.(1786-1788)acC>acT	p.T596T	SLCO1A2_ENST00000452078.1_Silent_p.T596T|SLCO1A2_ENST00000537524.1_Silent_p.T464T|SLCO1A2_ENST00000458504.1_Silent_p.T464T	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	596					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TTTACCTGAAGGTGGTGGAAT	0.368000													9	37					0	0	0.000274275	0	0
SNCAIP	9627	broad.mit.edu	37	5	121787002	121787002	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:121787002G>A	ENST00000261367.7	+	12	4029	c.2601G>A	c.(2599-2601)gaG>gaA	p.E867E	SNCAIP_ENST00000542191.1_Silent_p.E378E|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379536.2_Silent_p.E760E|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000261368.8_Silent_p.E820E|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379538.3_Silent_p.E454E|SNCAIP_ENST00000414317.2_Silent_p.E422E|SNCAIP_ENST00000379533.2_Silent_p.E867E|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	820					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CCTTTGAGGAGCCTGTGGTGC	0.502000													7	61					0	0	0.000157383	0	0
AKAP9	10142	broad.mit.edu	37	7	91718711	91718711	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:91718711C>T	ENST00000359028.2	+	38	9463	c.9238C>T	c.(9238-9240)Caa>Taa	p.Q3080*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.Q3026*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.Q3076*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3080					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGTTGAATATCAAGCAGCTAT	0.363000			T	BRAF	papillary thyroid								14	117					0	0	0.000422831	0	0
DCX	1641	broad.mit.edu	37	X	110574161	110574161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:110574161G>A	ENST00000338081.3	-	5	1331	c.1160C>T	c.(1159-1161)tCt>tTt	p.S387F	DCX_ENST00000356915.2_Missense_Mutation_p.S306F|DCX_ENST00000356220.3_Missense_Mutation_p.S306F|DCX_ENST00000488120.1_Missense_Mutation_p.S306F|DCX_ENST00000371993.2_Missense_Mutation_p.S306F|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	387	Pro/Ser-rich.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GTCAGCTGGAGACTTGCTTCG	0.527000													10	77					0	0	0.000978159	0	0
LILRA5	353514	broad.mit.edu	37	19	54818742	54818742	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:54818742C>T	ENST00000301219.3	-	7	975	c.856G>A	c.(856-858)Gat>Aat	p.D286N	LILRA5_ENST00000346508.3_Missense_Mutation_p.D274N	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	286					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGTGCCAATCCTGAAATATC	0.527000													11	74					0	0	0.00136819	0	0
TIAM1	7074	broad.mit.edu	37	21	32624237	32624237	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:32624237T>C	ENST00000286827.3	-	6	1703	c.1232A>G	c.(1231-1233)gAg>gGg	p.E411G	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.E411G	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	411					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCTGCTCTGCTCATCGCTGTG	0.697000													4	49					0	0	0.000602214	0	0
SMEK1	55671	broad.mit.edu	37	14	91927811	91927811	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:91927811G>A	ENST00000554684.1	-	14	2762	c.2266C>T	c.(2266-2268)Ccg>Tcg	p.P756S	SMEK1_ENST00000428424.2_Missense_Mutation_p.P530S|SMEK1_ENST00000554943.1_Missense_Mutation_p.P769S|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000337238.4_Missense_Mutation_p.P756S|SMEK1_ENST00000555462.1_Missense_Mutation_p.P530S			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	769						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GGTGATCCCGGAGAACCAGGC	0.502000													17	94					0	0	0.00074312	0	0
RGS7BP	401190	broad.mit.edu	37	5	63894207	63894207	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:63894207G>A	ENST00000334025.2	+	5	953	c.627G>A	c.(625-627)atG>atA	p.M209I		NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	209					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		TGAGAGAAATGAAAAACCTTT	0.323000													10	166					0	0	0.000673444	0	0
FAT3	120114	broad.mit.edu	37	11	92087131	92087131	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:92087131G>A	ENST00000298047.6	+	1	1870	c.1853G>A	c.(1852-1854)gGa>gAa	p.G618E	FAT3_ENST00000525166.1_Missense_Mutation_p.G468E|FAT3_ENST00000409404.2_Missense_Mutation_p.G618E|FAT3_ENST00000541502.1_Missense_Mutation_p.G618E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	618	Cadherin 6.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.G618E(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATCATTTCTGGAAATGAACTT	0.363000										TCGA Ovarian(4;0.039)			19	279					0	0	0.00229938	0	0
ROR2	4920	broad.mit.edu	37	9	94486555	94486555	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:94486555C>T	ENST00000375708.3	-	9	2419	c.2221G>A	c.(2221-2223)Gac>Aac	p.D741N	ROR2_ENST00000375715.1_Missense_Mutation_p.D601N|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	741	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTGTGGATGTCCTTGAAGCGG	0.662000													11	47					0	0	0.000978159	0	0
C20orf197	284756	broad.mit.edu	37	20	58645794	58645794	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:58645794G>A	ENST00000313426.1	+	4	518	c.212G>A	c.(211-213)gGg>gAg	p.G71E		NM_173644.1	NP_775915.1	Q8N268	CT197_HUMAN	chromosome 20 open reading frame 197	71										large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			CGCTCCAAGGGGCTGAAGATA	0.473000													9	42					0	0	0.000673444	0	0
F11	2160	broad.mit.edu	37	4	187197404	187197404	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:187197404C>T	ENST00000264692.4	+	7	792	c.459C>T	c.(457-459)ttC>ttT	p.F153F	F11_ENST00000403665.2_Silent_p.F205F			P03951	FA11_HUMAN	coagulation factor XI	205	Apple 2.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GGGACATTTTCCCTAATACGG	0.468000													6	34					0	0	0.000157383	0	0
SYT5	6861	broad.mit.edu	37	19	55686019	55686019	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:55686019C>T	ENST00000354308.3	-	8	1196		c.e8-1		SYT5_ENST00000537500.1_Splice_Site|SYT5_ENST00000590851.1_Splice_Site|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V						energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ACGTATGGATCTGGGGAGAGG	0.527000													10	74					0	0	0.00136819	0	0
TTN	7273	broad.mit.edu	37	2	179534361	179534361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:179534361G>A	ENST00000589042.1	-	158	35652	c.35428C>T	c.(35428-35430)Cgt>Tgt	p.R11810C	TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9933	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGCTTCACGAACTTTTTCT	0.333000													20	240					0	0	0.000878237	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995238	140995238	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:140995238C>T	ENST00000285879.4	+	4	2334	c.2048C>T	c.(2047-2049)cCt>cTt	p.P683L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	683							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAGTGCTCCTGAGGGGGAG	0.572000										HNSCC(15;0.026)			7	20					0	0	0.000157383	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110451159	110451159	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:110451159C>T	ENST00000260283.4	-	16	2795	c.2511G>A	c.(2509-2511)aaG>aaA	p.K837K	ARHGAP20_ENST00000357139.3_Silent_p.K811K|ARHGAP20_ENST00000528829.1_Silent_p.K801K|ARHGAP20_ENST00000529591.1_Silent_p.K380K|ARHGAP20_ENST00000524756.1_Silent_p.K814K|ARHGAP20_ENST00000527598.1_Silent_p.K801K|ARHGAP20_ENST00000533353.1_Silent_p.K811K	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	837					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCCTTGGACCCTTGAGGGCAT	0.473000													10	82					0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179569676	179569676	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:179569676C>T	ENST00000589042.1	-	104	29846	c.29622G>A	c.(29620-29622)gaG>gaA	p.E9874E	TTN_ENST00000591111.1_Silent_p.E9557E|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.E8630E|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9557	Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCTGACCTCTCTATTTCCT	0.338000													12	152					0	0	0.000422831	0	0
C8A	731	broad.mit.edu	37	1	57372418	57372418	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:57372418G>A	ENST00000361249.3	+	8	1271	c.1175G>A	c.(1174-1176)gGa>gAa	p.G392E		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	392	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AATGTTGGTGGAGGTTTATCA	0.413000													18	68					0	0	0.000958276	0	0
PCLO	27445	broad.mit.edu	37	7	82784986	82784986	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:82784986G>A	ENST00000423517.2	-	2	1308	c.971C>T	c.(970-972)tCa>tTa	p.S324L	PCLO_ENST00000333891.8_Missense_Mutation_p.S324L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	310	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCCAGGCTGTGATTTTTCATG	0.557000													14	29					0	0	0.00244969	0	0
FGFR3	2261	broad.mit.edu	37	4	1806142	1806142	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:1806142C>T	ENST00000340107.4	+	9	1423	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000481110.2_Silent_p.I387I|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000260795.2_Silent_p.I387I|FGFR3_ENST00000440486.2_Silent_p.I387I	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	387					bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TCCTGTTCATCCTGGTGGTGG	0.657000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				15	130					0	0	0.000566183	0	0
FN1	2335	broad.mit.edu	37	2	216251560	216251560	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:216251560G>A	ENST00000354785.4	-	28	4833	c.4464C>T	c.(4462-4464)ttC>ttT	p.F1488F	FN1_ENST00000359671.1_Silent_p.F1397F|FN1_ENST00000432072.2_Silent_p.F1488F|FN1_ENST00000443816.1_Silent_p.F1397F|FN1_ENST00000357009.2_Silent_p.F1397F|FN1_ENST00000421182.1_Silent_p.F1397F|FN1_ENST00000446046.1_Silent_p.F1397F|FN1_ENST00000357867.4_Silent_p.F1397F|FN1_ENST00000356005.4_Silent_p.F1397F|FN1_ENST00000336916.4_Silent_p.F1397F|FN1_ENST00000323926.6_Silent_p.F1488F|FN1_ENST00000346544.3_Silent_p.F1397F|FN1_ENST00000345488.5_Silent_p.F1397F			P02751	FINC_HUMAN	fibronectin 1	1487	Cell-attachment.|Fibronectin type-III 10.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCTCCCACTGAAGTGCTCGG	0.532000													6	36					0	0	0.00198382	0	0
PDE6A	5145	broad.mit.edu	37	5	149314197	149314197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:149314197C>T	ENST00000255266.5	-	2	678	c.559G>A	c.(559-561)Gat>Aat	p.D187N		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	187	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GCCACCACATCCTTCCCATTC	0.448000													5	64					0	0	0.000602214	0	0
PDE6A	5145	broad.mit.edu	37	5	149323966	149323966	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:149323966C>T	ENST00000255266.5	-	1	390	c.271G>A	c.(271-273)Gca>Aca	p.A91T		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	91	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATGCGGTCTGCCTGCAGGAGG	0.517000													8	46					0	0	0.000442599	0	0
TRIO	7204	broad.mit.edu	37	5	14508315	14508315	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:14508315C>T	ENST00000344204.4	+	57	9102	c.9078C>T	c.(9076-9078)ttC>ttT	p.F3026F	TRIO_ENST00000344135.5_Silent_p.F525F|TRIO_ENST00000537187.1_Silent_p.F2850F	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	3026	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.F3026F(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCAAGGAGTTCGTGTGCTTCC	0.602000													17	94					0	0	0.000566183	0	0
RPE65	6121	broad.mit.edu	37	1	68912415	68912415	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:68912415C>T	ENST00000262340.5	-	3	276	c.223G>A	c.(223-225)Gga>Aga	p.G75R		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	75					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						GTGACATGTCCTTCTTTAAAG	0.502000													9	38					0	0	0.000978159	0	0
LILRB1	10859	broad.mit.edu	37	19	55148000	55148000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:55148000C>T	ENST00000396331.1	+	15	2060	c.1703C>T	c.(1702-1704)tCc>tTc	p.S568F	LILRB1_ENST00000396317.1_Missense_Mutation_p.S552F|LILRB1_ENST00000418536.2_Missense_Mutation_p.S552F|LILRB1_ENST00000324602.7_Missense_Mutation_p.S570F|LILRB1_ENST00000434867.2_Missense_Mutation_p.S568F|LILRB1_ENST00000396315.1_Missense_Mutation_p.S570F|LILRB1_ENST00000396332.4_Missense_Mutation_p.S569F|LILRB1_ENST00000448689.1_3'UTR|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396321.2_Missense_Mutation_p.S568F|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_Missense_Mutation_p.S619F|LILRB1_ENST00000396327.3_Missense_Mutation_p.S569F	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	568					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GTGAAACACTCCAGACCTAGG	0.577000										HNSCC(37;0.09)			5	27					0	0	0.00116845	0	0
MPDZ	8777	broad.mit.edu	37	9	13119539	13119539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:13119539G>A	ENST00000319217.7	-	39	5588	c.5341C>T	c.(5341-5343)Cgt>Tgt	p.R1781C	MPDZ_ENST00000381022.2_Missense_Mutation_p.R1781C|MPDZ_ENST00000546205.1_Missense_Mutation_p.R1795C|MPDZ_ENST00000447879.1_Missense_Mutation_p.R1748C|MPDZ_ENST00000538841.1_Missense_Mutation_p.R640C|MPDZ_ENST00000381015.4_Missense_Mutation_p.R1781C|MPDZ_ENST00000536827.1_Missense_Mutation_p.R1748C|MPDZ_ENST00000541718.1_Missense_Mutation_p.R1781C|MPDZ_ENST00000541093.1_Missense_Mutation_p.R15C	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1781	PDZ 11.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GTGGCATTACGAACGTCTTCC	0.393000													18	84					0	0	0.000958276	0	0
GPR125	166647	broad.mit.edu	37	4	22390780	22390780	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:22390780G>A	ENST00000334304.5	-	18	2923	c.2654C>T	c.(2653-2655)cCc>cTc	p.P885L	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	885					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AACAATGATGGGGATACCACC	0.413000													10	160					0	0	0.000673444	0	0
KMT2C	58508	broad.mit.edu	37	7	151945151	151945151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:151945151C>T	ENST00000355193.2	-	14	2586	c.2368G>A	c.(2368-2370)Gac>Aac	p.D790N	KMT2C_ENST00000262189.6_Missense_Mutation_p.D790N					lysine (K)-specific methyltransferase 2C																		GAAGGCAAGTCTGAAGAAGGT	0.423000													8	449					0	0	0.000274275	0	0
CHAF1A	10036	broad.mit.edu	37	19	4433459	4433459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:4433459C>T	ENST00000301280.5	+	13	2697	c.2596C>T	c.(2596-2598)Ccc>Tcc	p.P866S		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	866	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGGCACTCCCATCTCGCT	0.662000								Chromatin Structure					10	36					0	0	0.000978159	0	0
SHANK1	50944	broad.mit.edu	37	19	51192554	51192554	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:51192554G>A	ENST00000391813.1	-	1	107	c.108C>T	c.(106-108)ttC>ttT	p.F36F	SHANK1_ENST00000391814.1_Intron|SHANK1_ENST00000293441.1_Intron|SHANK1_ENST00000359082.3_Intron			Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1219					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGAGGCAGGAGAAATGGGGGG	0.592000													9	25					0	0	0.000274275	0	0
ENC1	8507	broad.mit.edu	37	5	73932025	73932025	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:73932025C>T	ENST00000302351.4	-	2	1416	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	ENC1_ENST00000537006.1_Missense_Mutation_p.E96K|ENC1_ENST00000510316.1_Missense_Mutation_p.E23K	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	96	BTB.				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TCCAAGACTTCTGGGTGGATG	0.517000													11	53					0	0	0.000978159	0	0
GALNT14	79623	broad.mit.edu	37	2	31152266	31152266	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:31152266G>A	ENST00000349752.5	-	11	1785	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000406653.1_Silent_p.F362F|GALNT14_ENST00000324589.5_Silent_p.F387F|GALNT14_ENST00000356174.3_Silent_p.F349F|GALNT14_ENST00000420311.2_Silent_p.F347F	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	382						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CTTACTTCCCGAAGGGCCTCT	0.547000													6	31					0	0	0.00198382	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563942	140563942	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140563942C>T	ENST00000361016.2	+	1	2963	c.1808C>T	c.(1807-1809)tCg>tTg	p.S603L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		603	Cadherin 6.				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)			GCCTGGCTGTCGTACCAGCTG	0.721000													10	54					0	0	0.00185496	0	0
TECTA	7007	broad.mit.edu	37	11	120976657	120976657	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:120976657C>T	ENST00000392793.1	+	3	453	c.182C>T	c.(181-183)cCt>cTt	p.P61L	TECTA_ENST00000264037.2_Missense_Mutation_p.P61L			O75443	TECTA_HUMAN	tectorin alpha	61					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTTGGCGTTCCTTACCGCACT	0.428000													11	237					0	0	0.00185496	0	0
AFAP1	60312	broad.mit.edu	37	4	7820863	7820863	+	Silent	SNP	G	G	A	rs115125282	by1000genomes	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:7820863G>A	ENST00000420658.1	-	7	1034	c.762C>T	c.(760-762)ccC>ccT	p.P254P	AFAP1_ENST00000358461.2_Silent_p.P254P|AFAP1_ENST00000360265.4_Silent_p.P254P|AFAP1_ENST00000382543.3_Silent_p.P254P	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	254						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CTGAATCCACGGGGCCACTAC	0.527000													8	45					0	0	0.000978159	0	0
NLRP6	171389	broad.mit.edu	37	11	282771	282771	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:282771C>T	ENST00000534750.1	+	5	2377	c.2172C>T	c.(2170-2172)gaC>gaT	p.D724D	NLRP6_ENST00000312165.5_Silent_p.D725D	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	725						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAATGACTGACCCACTGTGCC	0.587000													10	69					0	0	0.000673444	0	0
BPIFB6	128859	broad.mit.edu	37	20	31627282	31627282	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:31627282C>T	ENST00000349552.1	+	10	1030	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	344						extracellular region	lipid binding										GTTCGCAGCTCGGTGGCGGAG	0.527000													11	106					0	0	0.00136819	0	0
DGKI	9162	broad.mit.edu	37	7	137092656	137092656	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:137092656C>T	ENST00000453654.1	-	30	2455	c.1916G>A	c.(1915-1917)gGc>gAc	p.G639D	DGKI_ENST00000424189.2_Missense_Mutation_p.G983D|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000288490.5_Missense_Mutation_p.G970D|DGKI_ENST00000446122.1_Missense_Mutation_p.G952D			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	970					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTCCCCGTTGCCGGTTTTAGC	0.428000													9	84					0	0	0.000274275	0	0
TTC24	164118	broad.mit.edu	37	1	156555557	156555557	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:156555557C>T	ENST00000368236.3	+	9	1545	c.1509C>T	c.(1507-1509)tgC>tgT	p.C503C	TTC24_ENST00000495690.1_3'UTR|TTC24_ENST00000368237.3_Silent_p.C503C	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	503							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCTAGTTGCCCCACGTTTA	0.522000													17	57					0	0	0.00188189	0	0
PCCA	5095	broad.mit.edu	37	13	100953816	100953816	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:100953816C>T	ENST00000376285.1	+	13	1206	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	PCCA_ENST00000376286.4_Missense_Mutation_p.R364C|PCCA_ENST00000376279.3_Missense_Mutation_p.R390C	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	390	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	AGCTGATATTCGCATCAACGG	0.498000													11	104					0	0	0.000978159	0	0
KLKB1	3818	broad.mit.edu	37	4	187155171	187155171	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:187155171T>G	ENST00000264690.6	+	4	474	c.287T>G	c.(286-288)gTt>gGt	p.V96G	KLKB1_ENST00000513864.1_Missense_Mutation_p.V96G	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	96	Apple 1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ACAGGTGCAGTTTCTGGACAT	0.368000													8	74					0	0	0.000442599	0	0
TBX15	6913	broad.mit.edu	37	1	119467332	119467332	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:119467332C>T	ENST00000369429.3	-	4	639	c.630G>A	c.(628-630)atG>atA	p.M210I	TBX15_ENST00000207157.3_Missense_Mutation_p.M104I			Q96SF7	TBX15_HUMAN	T-box 15	210						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CCACCTGTCTCATCCAGGTGT	0.463000													16	108					0	0	0.000566183	0	0
TTN	7273	broad.mit.edu	37	2	179633539	179633539	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:179633539G>A	ENST00000589042.1	-	38	9248	c.9024C>T	c.(9022-9024)atC>atT	p.I3008I	TTN_ENST00000591111.1_Silent_p.I3008I|TTN_ENST00000359218.5_Silent_p.I2962I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.I2962I|TTN_ENST00000360870.5_Silent_p.I3008I|TTN_ENST00000342992.6_Silent_p.I3008I|TTN_ENST00000342175.6_Silent_p.I2962I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2747	Ig-like 17.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTTGATTTGATTTCCACAC	0.408000													9	40					0	0	0.000978159	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717706	142717706	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:142717706G>A	ENST00000381779.4	-	2	1444	c.1219C>T	c.(1219-1221)Cat>Tat	p.H407Y	SLITRK4_ENST00000338017.4_Missense_Mutation_p.H407Y|SLITRK4_ENST00000356928.1_Missense_Mutation_p.H407Y	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	407						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)					CTGCCTAAATGAAGCAAATCC	0.403000													7	53					0	0	0.00198382	0	0
MUC16	94025	broad.mit.edu	37	19	8982296	8982296	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:8982296G>A	ENST00000397910.4	-	70	42182	c.41979C>T	c.(41977-41979)gaC>gaT	p.D13993D	MUC16_ENST00000380951.5_Silent_p.D634D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14018	SEA 13.			Missing (in Ref. 3; AAK74120).	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						TGCAGAGGAGGTCCACCCGTG	0.617000													7	32					0	0	0.000442599	0	0
SH3RF2	153769	broad.mit.edu	37	5	145442097	145442097	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:145442097C>T	ENST00000511217.1	+	9	2075	c.2023C>T	c.(2023-2025)Cag>Tag	p.Q675*	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Nonsense_Mutation_p.Q675*			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	675							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAGGCGTCCCAGCCTGAAGC	0.587000													7	44					0	0	0.000157383	0	0
EPS8L1	54869	broad.mit.edu	37	19	55589472	55589472	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:55589472A>C	ENST00000201647.6	+	3	90	c.34A>C	c.(34-36)Aag>Cag	p.K12Q	EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000586329.1_Intron	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	12						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		AGCTGCCCCAAAGCCAAGCGC	0.577000													5	39					0	0	0.000157383	0	0
PLS1	5357	broad.mit.edu	37	3	142408621	142408621	+	Silent	SNP	G	G	A	rs144604988	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:142408621G>A	ENST00000337777.3	+	10	1356	c.1143G>A	c.(1141-1143)ccG>ccA	p.P381P	PLS1_ENST00000497002.1_Silent_p.P381P|PLS1_ENST00000457734.2_Silent_p.P381P	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	381	Actin-binding 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TGCACAAGCCGAATAATAATG	0.358000													15	64					0	0	0.000958276	0	0
LCT	3938	broad.mit.edu	37	2	136570170	136570170	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:136570170G>A	ENST00000264162.2	-	7	2074	c.2064C>T	c.(2062-2064)tcC>tcT	p.S688S		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	688	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGATGAGGCGGGAGGTGTAAT	0.552000													8	37					0	0	0.000157383	0	0
PCDH7	5099	broad.mit.edu	37	4	31144345	31144345	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:31144345G>A	ENST00000543491.1	+	3	3642	c.3642G>A	c.(3640-3642)gaG>gaA	p.E1214E				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CATCCTATGAGACCTTCAGTG	0.483000													14	86					0	0	0.00185496	0	0
GPR148	344561	broad.mit.edu	37	2	131487424	131487424	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:131487424C>T	ENST00000309926.4	+	1	782	c.700C>T	c.(700-702)Ctc>Ttc	p.L234F		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	234						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CTGCACAGCTCTCATTGCCAA	0.572000													15	82					0	0	0.000308642	0	0
GFRAL	389400	broad.mit.edu	37	6	55223767	55223767	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:55223767C>T	ENST00000340465.2	+	6	869	c.783C>T	c.(781-783)acC>acT	p.T261T		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	261						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCATTAGCACCTTAAGCAAAC	0.438000													5	26					0	0	0.00198382	0	0
OSMR	9180	broad.mit.edu	37	5	38903999	38903999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:38903999C>T	ENST00000274276.3	+	8	1409	c.1007C>T	c.(1006-1008)cCt>cTt	p.P336L		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	336	Fibronectin type-III 1.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TTAATGAATCCTTTTAGTGTC	0.299000													7	46					0	0	0.000157383	0	0
PIDD	55367	broad.mit.edu	37	11	802336	802336	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:802336G>T	ENST00000347755.5	-	6	1176	c.1035C>A	c.(1033-1035)ttC>ttA	p.F345L	PIDD_ENST00000411829.2_Missense_Mutation_p.F345L	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	345	ZU5 1.				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										CTCCCGCTGGGAACTGCAGGC	0.662000													12	58					4.36969e-10	1.91625e-09	0.00185496	1	0
CYP2C8	1558	broad.mit.edu	37	10	96827096	96827096	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:96827096C>T	ENST00000371270.3	-	3	444	c.350G>A	c.(349-351)gGa>gAa	p.G117E	CYP2C8_ENST00000539050.1_Missense_Mutation_p.G31E|CYP2C8_ENST00000535898.1_Missense_Mutation_p.G15E	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	117					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CCATCTCTTTCCATTGCTGGA	0.488000													5	32					0	0	0.000602214	0	0
ORMDL3	94103	broad.mit.edu	37	17	38079370	38079370	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:38079370G>A	ENST00000394169.1	-	5	1815	c.321C>T	c.(319-321)atC>atT	p.I107I	ORMDL3_ENST00000584220.1_Silent_p.I91I|ORMDL3_ENST00000579695.1_Silent_p.I107I|ORMDL3_ENST00000304046.2_Silent_p.I107I			Q8N138	ORML3_HUMAN	ORM1-like 3 (S. cerevisiae)	107					ceramide metabolic process	integral to membrane|SPOTS complex	protein binding			endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			CTCACAGCACGATGGGTGTGA	0.622000													8	47					0	0	0.000274275	0	0
PARVA	55742	broad.mit.edu	37	11	12534871	12534871	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:12534871C>T	ENST00000334956.8	+	9	1225	c.882C>T	c.(880-882)ttC>ttT	p.F294F	PARVA_ENST00000550549.1_Silent_p.F254F|PARVA_ENST00000538608.1_Silent_p.F201F|PARVA_ENST00000539723.1_Silent_p.F254F	NM_018222.4	NP_060692.2	Q9NVD7	PARVA_HUMAN	parvin, alpha	254	CH 2.				cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		ACACCTTGTTCGACCATGCCC	0.537000													9	128					0	0	0.000673444	0	0
PI16	221476	broad.mit.edu	37	6	36929677	36929677	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:36929677G>A	ENST00000373674.3	+	4	847	c.519G>A	c.(517-519)ggG>ggA	p.G173G		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	173						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACGTGAAGGGGAAACGGCCCT	0.627000													5	48					0	0	0.000602214	0	0
LRPPRC	10128	broad.mit.edu	37	2	44126743	44126743	+	Splice_Site	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:44126743T>C	ENST00000260665.7	-	33	3628	c.3569_splice	c.e33-1	p.N1191_splice		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1191	RNA-binding.				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCTATGTTATTACTGTTAAAA	0.289000													25	282					0	0	0.00047179	0	0
GJA8	2703	broad.mit.edu	37	1	147380201	147380201	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:147380201C>T	ENST00000240986.4	+	2	172	c.119C>T	c.(118-120)gCc>gTc	p.A40V	GJA8_ENST00000369235.1_Missense_Mutation_p.A40V	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	40					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CTTGGCACGGCCGCAGAGTTC	0.592000													8	35					0	0	0.000274275	0	0
TEKT1	83659	broad.mit.edu	37	17	6718591	6718591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:6718591C>T	ENST00000338694.2	-	5	649	c.520G>A	c.(520-522)Gat>Aat	p.D174N	TEKT1_ENST00000535086.1_Missense_Mutation_p.D28N	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	174					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TCCTTCAAATCCTTCTCAAGA	0.493000													16	80					0	0	0.00121646	0	0
LRRC66	339977	broad.mit.edu	37	4	52860873	52860873	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:52860873G>A	ENST00000343457.3	-	4	2321	c.2315C>T	c.(2314-2316)cCc>cTc	p.P772L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	772						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TTTTTCAAAGGGATCTTCTTG	0.468000													9	48					0	0	0.000442599	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558403	106558403	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:106558403G>A	ENST00000526355.1	-	8	2539	c.2071C>T	c.(2071-2073)Cct>Tct	p.P691S	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P712S|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P722S	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	691					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CAGATCCCAGGAATTTCCTTT	0.423000													8	100					0	0	0.000274275	0	0
USH1C	10083	broad.mit.edu	37	11	17533587	17533587	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:17533587C>T	ENST00000005226.7	-	16	1274	c.1275G>A	c.(1273-1275)aaG>aaA	p.K425K	USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TGGCTTTCTTCTTATCTTTTC	0.418000													7	130					0	0	0.000274275	0	0
MTMR6	9107	broad.mit.edu	37	13	25826016	25826016	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:25826016G>A	ENST00000381801.5	-	12	2214	c.1453C>T	c.(1453-1455)Cca>Tca	p.P485S	MTMR6_ENST00000540661.1_Missense_Mutation_p.P485S	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	485	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		ACTGTATTTGGCTCCAAAACT	0.318000													29	272					0	0	0.00209593	0	0
HTRA2	27429	broad.mit.edu	37	2	74757769	74757769	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:74757769C>T	ENST00000258080.3	+	2	1162	c.532C>T	c.(532-534)Cct>Tct	p.P178S	HTRA2_ENST00000467961.1_3'UTR|HTRA2_ENST00000352222.3_Missense_Mutation_p.P178S	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	178	Serine protease.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						CCGCGAGGTCCCTATCTCGAA	0.617000													12	63					0	0	0.000566183	0	0
NRXN1	9378	broad.mit.edu	37	2	50280421	50280421	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:50280421T>G	ENST00000404971.1	-	22	5575	c.4236A>C	c.(4234-4236)gaA>gaC	p.E1412D	NRXN1_ENST00000405472.3_Missense_Mutation_p.E1364D|NRXN1_ENST00000401669.2_Missense_Mutation_p.E1372D|NRXN1_ENST00000401710.1_Missense_Mutation_p.E360D|NRXN1_ENST00000406859.3_Missense_Mutation_p.E1342D|NRXN1_ENST00000342183.5_Missense_Mutation_p.E307D|NRXN1_ENST00000402717.3_Missense_Mutation_p.E1364D|NRXN1_ENST00000406316.2_Missense_Mutation_p.E1342D	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1342	Poly-Ala.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGCTAATGGGTTCTTTTGTCG	0.443000													8	52					0	0	0.000673444	0	0
MOB4	25843	broad.mit.edu	37	2	198415087	198415087	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:198415087C>T	ENST00000323303.4	+	7	778	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	MOB4_ENST00000448447.2_Missense_Mutation_p.R154W|MOB4_ENST00000497443.1_3'UTR|MOB4_ENST00000604458.1_Missense_Mutation_p.R211W|MOB4_ENST00000233892.4_Missense_Mutation_p.R143W|MOB4_ENST00000409916.1_Missense_Mutation_p.R76W|MOB4_ENST00000409360.1_Missense_Mutation_p.R143W	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2			MOB family member 4, phocein																		TTTTCATCATCGGCAGATATT	0.313000													5	32					0	0	0.000602214	0	0
ZNF257	113835	broad.mit.edu	37	19	22255736	22255736	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:22255736G>A	ENST00000594947.1	+	2	273	c.130_splice	c.e2+1	p.L43_splice	ZNF257_ENST00000600162.1_Splice_Site_p.L43_splice	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGGTCTTCCTGGGTGAGGATA	0.353000													6	95					0	0	0.000157383	0	0
TM9SF4	9777	broad.mit.edu	37	20	30753238	30753238	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:30753238G>A	ENST00000217315.5	+	18	2209	c.1869G>A	c.(1867-1869)aaG>aaA	p.K623K	TM9SF4_ENST00000398022.2_Silent_p.K640K			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	640						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTGCTGTGAAGATAGACTGAT	0.542000													10	43					0	0	0.000673444	0	0
DEFB119	245932	broad.mit.edu	37	20	29965177	29965177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:29965177C>T	ENST00000376321.3	-	2	246	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000339144.3_3'UTR	NM_153289.2	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119	43					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TAGGGCTGTTCGTTCTTTTTG	0.433000													20	117					0	0	0.000720815	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553675	140553675	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140553675C>T	ENST00000231137.3	+	1	1433	c.1259C>T	c.(1258-1260)aCc>aTc	p.T420I		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		420	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACAACATCACCATCACCGTC	0.517000													8	46					0	0	0.000442599	0	0
SAA4	6291	broad.mit.edu	37	11	18253192	18253192	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:18253192G>A	ENST00000278222.4	-	4	430	c.250C>T	c.(250-252)Cag>Tag	p.Q84*	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2			serum amyloid A4, constitutive											haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						ATTAATCCCTGAAGATAGACC	0.493000													6	29					0	0	0.000157383	0	0
FGA	2243	broad.mit.edu	37	4	155508759	155508759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:155508759C>T	ENST00000302053.3	-	4	493	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	FGA_ENST00000403106.3_Missense_Mutation_p.E139K	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	139					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTCAGGACTTCAATTCTGCTT	0.408000													6	52					0	0	0.00198382	0	0
INHBA	3624	broad.mit.edu	37	7	41729952	41729952	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:41729952C>T	ENST00000242208.4	-	3	823	c.577G>A	c.(577-579)Gag>Aag	p.E193K	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.E193K|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	193					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCCACTTCCTCGGCCTCTTCC	0.572000										TSP Lung(11;0.080)			13	42					0	0	0.00244969	0	0
GRIN2B	2904	broad.mit.edu	37	12	13724782	13724782	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:13724782G>A	ENST00000279593.3	-	10	2336	c.2127C>T	c.(2125-2127)ttC>ttT	p.F709F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	709					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCCTCTGGTTGAACTTTCCCA	0.468000													26	112					0	0	0.00178596	0	0
COL4A1	1282	broad.mit.edu	37	13	110827591	110827591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:110827591C>T	ENST00000375820.4	-	37	3293	c.3172G>A	c.(3172-3174)Ggc>Agc	p.G1058S		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1058	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTGGGATGCCTATGCCAGGT	0.582000													5	67					0	0	0.000157383	0	0
GALNT16	57452	broad.mit.edu	37	14	69814701	69814701	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:69814701C>T	ENST00000337827.4	+	14	1848	c.1521C>T	c.(1519-1521)aaC>aaT	p.N507N	GALNT16_ENST00000448469.3_Silent_p.N507N|GALNT16_ENST00000553669.1_Silent_p.N507N	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		AGATGTGCAACCCTAGAGAAG	0.622000													5	28					0	0	0.000602214	0	0
NOX4	50507	broad.mit.edu	37	11	89133540	89133540	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:89133540A>G	ENST00000535633.1	-	10	1092	c.782T>C	c.(781-783)cTt>cCt	p.L261P	NOX4_ENST00000528341.1_Missense_Mutation_p.L260P|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000534731.1_Missense_Mutation_p.L285P|NOX4_ENST00000424319.1_Missense_Mutation_p.L261P|NOX4_ENST00000527626.1_Missense_Mutation_p.L119P|NOX4_ENST00000527956.1_Missense_Mutation_p.L261P|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000413594.2_Missense_Mutation_p.L306P|NOX4_ENST00000542487.1_Missense_Mutation_p.L261P|NOX4_ENST00000532825.1_Missense_Mutation_p.L261P|NOX4_ENST00000343727.5_Missense_Mutation_p.L261P|NOX4_ENST00000263317.4_Missense_Mutation_p.L285P	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	285	Ferric oxidoreductase.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGAAATCCAAAGCCAAGTCTA	0.388000													3	18					0	0	0.000602214	0	0
CDH23	64072	broad.mit.edu	37	10	73330619	73330619	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:73330619G>A	ENST00000224721.6	+	7	717	c.712G>A	c.(712-714)Gac>Aac	p.D238N	CDH23_ENST00000398809.4_Missense_Mutation_p.D233N|CDH23_ENST00000461841.3_Missense_Mutation_p.D278N|CDH23_ENST00000398842.3_Missense_Mutation_p.D233N|CDH23_ENST00000299366.7_Missense_Mutation_p.D278N	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	233	Cadherin 3.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCAGGACATGGACCCCATCTT	0.537000											OREG0020254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	43					0	0	0.000274275	0	0
EIF4G2	1982	broad.mit.edu	37	11	10825854	10825854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:10825854G>A	ENST00000526148.1	-	6	973	c.463C>T	c.(463-465)Cca>Tca	p.P155S	EIF4G2_ENST00000525681.1_Missense_Mutation_p.P155S|EIF4G2_ENST00000339995.5_Missense_Mutation_p.P155S|EIF4G2_ENST00000396525.2_Missense_Mutation_p.P155S	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	155	MIF4G.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTCTGTCCTGGTTGACCCTCT	0.423000													19	137					0	0	0.00188189	0	0
LPIN2	9663	broad.mit.edu	37	18	2925283	2925283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:2925283G>A	ENST00000261596.4	-	14	2115	c.1877C>T	c.(1876-1878)cCc>cTc	p.P626L		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	626					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GTGGCTCAGGGGCTCTGTGGG	0.542000													6	66					0	0	0.00198382	0	0
DENND2C	163259	broad.mit.edu	37	1	115142859	115142859	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:115142859C>T	ENST00000393274.1	-	15	2696	c.2071G>A	c.(2071-2073)Gag>Aag	p.E691K	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Intron|DENND2C_ENST00000393276.3_Missense_Mutation_p.E634K	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	691	DENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCCTACGCTCCAAAAGGAGA	0.403000													5	23					0	0	0.00116845	0	0
CNGA3	1261	broad.mit.edu	37	2	99008422	99008422	+	Missense_Mutation	SNP	G	G	A	rs141395850		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:99008422G>A	ENST00000393504.1	+	7	1079	c.662G>A	c.(661-663)cGa>cAa	p.R221Q	CNGA3_ENST00000409937.1_Missense_Mutation_p.R225Q|CNGA3_ENST00000436404.2_Missense_Mutation_p.R203Q|CNGA3_ENST00000272602.2_Missense_Mutation_p.R221Q	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	221					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GTGCTTGTACGAGCTCGGACA	0.597000													7	35					0	0	0.000157383	0	0
UNC13D	201294	broad.mit.edu	37	17	73835952	73835952	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:73835952C>T	ENST00000207549.4	-	12	1402	c.1023G>A	c.(1021-1023)caG>caA	p.Q341Q	UNC13D_ENST00000412096.2_Silent_p.Q341Q|UNC13D_ENST00000587504.1_5'UTR	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	341	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATAGGTCCTTCTGTGTGGCGT	0.667000									Familial Hemophagocytic Lymphohistiocytosis				5	59					0	0	0.00116845	0	0
LIPC	3990	broad.mit.edu	37	15	58855764	58855764	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:58855764C>T	ENST00000414170.3	+	9	1517	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	LIPC_ENST00000299022.5_Silent_p.I410I|LIPC_ENST00000356113.6_Silent_p.I410I|LIPC_ENST00000433326.2_Silent_p.I349I			P11150	LIPC_HUMAN	lipase, hepatic	410	PLAT.				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	p.I410I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		ATGTGGATATCGGCGAGCTGA	0.468000													5	54					0	0	0.00198382	0	0
NOTCH4	4855	broad.mit.edu	37	6	32178669	32178669	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:32178669C>T	ENST00000375023.3	-	18	2863	c.2725G>A	c.(2725-2727)Gac>Aac	p.D909N		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	909	EGF-like 23.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGGCCGCTGTCGACACAGAGG	0.592000													21	156					0	0	0.00278032	0	0
DNAJC13	23317	broad.mit.edu	37	3	132211430	132211430	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:132211430C>T	ENST00000260818.6	+	33	4044	c.3796C>T	c.(3796-3798)Cgg>Tgg	p.R1266W		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1266							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TGATACACTCCGGTTTCCAGA	0.363000													9	101					0	0	0.000274275	0	0
C16orf71	146562	broad.mit.edu	37	16	4790638	4790638	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:4790638G>A	ENST00000299320.5	+	4	1239	c.761G>A	c.(760-762)gGa>gAa	p.G254E	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.G268E	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	254										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CCTCCGGAGGGACCACCAGTG	0.647000													6	38					0	0	0.000157383	0	0
KLHL22	84861	broad.mit.edu	37	22	20819207	20819207	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:20819207G>A	ENST00000328879.4	-	4	1206	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F	KLHL22_ENST00000440659.2_Silent_p.F207F	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	350					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TCAAGTATACGAAGTTGTTGA	0.552000													12	87					0	0	0.00185496	0	0
COL5A2	1290	broad.mit.edu	37	2	189929336	189929336	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:189929336C>T	ENST00000374866.3	-	25	1937	c.1663G>A	c.(1663-1665)Gga>Aga	p.G555R		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	555					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCCTGGCTTCCTTTGGGTCCT	0.512000													7	34					0	0	0.000274275	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43827477	43827477	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:43827477G>A	ENST00000420765.1	-	31	3879	c.3697C>T	c.(3697-3699)Ctt>Ttt	p.L1233F	PPIP5K1_ENST00000360135.4_Missense_Mutation_p.L1206F|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.L1208F|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.L1209F|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.L1208F|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.L1206F|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.L1229F|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.L1233F	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1233					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			large_intestine(1)	1						GGTTCAAAAAGCTCTTGCTCC	0.557000													12	92					0	0	0.00136819	0	0
LIG3	3980	broad.mit.edu	37	17	33325259	33325259	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:33325259A>T	ENST00000378526.4	+	13	2066	c.1933A>T	c.(1933-1935)Atg>Ttg	p.M645L	LIG3_ENST00000262327.5_Missense_Mutation_p.M645L	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	645					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CTTGGCTGACATGATAACCCG	0.542000								Other BER factors			OREG0024326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	34					0	0	0.000308642	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657117	46657117	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:46657117C>T	ENST00000253255.5	-	1	2102	c.2103G>A	c.(2101-2103)aaG>aaA	p.K701K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	701	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTAAAAAATCCTTCTTTTGAA	0.388000													6	75					0	0	0.00116845	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997310	146997310	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:146997310G>A	ENST00000361727.3	+	9	1942	c.1426G>A	c.(1426-1428)Gga>Aga	p.G476R		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	476	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CACCATCGATGGAGATGAAGC	0.423000										HNSCC(39;0.1)			7	77					0	0	0.00198382	0	0
UGT2A1	10941	broad.mit.edu	37	4	70465112	70465112	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:70465112C>T	ENST00000503640.1	-	2	771	c.715_splice	c.e2-1	p.G239_splice	UGT2A2_ENST00000457664.2_Splice_Site_p.G248_splice|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000514019.1_Splice_Site_p.G449_splice|UGT2A1_ENST00000286604.4_Splice_Site_p.G283_splice|UGT2A1_ENST00000512704.1_Splice_Site_p.G239_splice	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	239					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGTGGGTCTTCCTGGAGAAAA	0.358000													6	51					0	0	0.00198382	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475394	140475394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140475394G>A	ENST00000194155.4	+	1	1168	c.1020G>A	c.(1018-1020)atG>atA	p.M340I		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		340	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCAAGTGATGGATTTGAATG	0.438000													6	59					0	0	0.00116845	0	0
LARS	51520	broad.mit.edu	37	5	145524069	145524069	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:145524069T>G	ENST00000394434.2	-	17	1787	c.1621A>C	c.(1621-1623)Aaa>Caa	p.K541Q	LARS_ENST00000545646.1_Missense_Mutation_p.K495Q|LARS_ENST00000274562.9_Missense_Mutation_p.K514Q|LARS_ENST00000510191.1_Missense_Mutation_p.K487Q	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	541					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	GATGTCTGTTTCTTCCAATTC	0.373000													14	92					0	0	0.000566183	0	0
KCNH1	3756	broad.mit.edu	37	1	211093211	211093211	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:211093211C>T	ENST00000367007.4	-	7	1321	c.1152G>A	c.(1150-1152)aaG>aaA	p.K384K	KCNH1_ENST00000271751.4_Silent_p.K411K	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	411					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGCGGATTGTCTTGGTGTCCT	0.547000													5	48					0	0	0.00198382	0	0
TENM1	10178	broad.mit.edu	37	X	123787498	123787498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:123787498G>A	ENST00000422452.2	-	7	1367	c.1304C>T	c.(1303-1305)tCt>tTt	p.S435F	TENM1_ENST00000371130.3_Missense_Mutation_p.S435F	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTTGGCTAAAGAAATATTGAA	0.388000													23	54					0	0	0.000720815	0	0
C2orf42	54980	broad.mit.edu	37	2	70392745	70392745	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:70392745G>A	ENST00000264434.2	-	7	1546	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	C2orf42_ENST00000420306.1_Silent_p.F389F	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	389										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						GAGGAATGTGGAACACCAATG	0.418000													6	64					0	0	0.00198382	0	0
UQCRFS1	7386	broad.mit.edu	37	19	29698969	29698969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:29698969C>T	ENST00000304863.4	-	2	733	c.311G>A	c.(310-312)aGa>aAa	p.R104K		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	104					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			GCTGCTTTCTCTTGAAGACTT	0.478000													8	127					0	0	0.000442599	0	0
APOB	338	broad.mit.edu	37	2	21234802	21234802	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:21234802C>T	ENST00000233242.1	-	26	5065	c.4938G>A	c.(4936-4938)agG>agA	p.R1646R		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1646					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTTGGCCAATCCTTAGTGTCG	0.473000													54	318					0	0	0.000781405	0	0
DNAH8	1769	broad.mit.edu	37	6	38783319	38783319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:38783319G>A	ENST00000359357.3	+	24	3012	c.2758G>A	c.(2758-2760)Gga>Aga	p.G920R	DNAH8_ENST00000449981.2_Missense_Mutation_p.G1137R|DNAH8_ENST00000441566.1_Missense_Mutation_p.G920R					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGTCAGCAGAGGAGTGGCTCA	0.483000													5	26					0	0	0.000602214	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64527205	64527205	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:64527205C>T	ENST00000498707.1	-	34	5631	c.5289G>A	c.(5287-5289)ctG>ctA	p.L1763L	ADAMTS9_ENST00000295903.4_Silent_p.L1735L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1763	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CATTCACCTTCAGAAGCTTTC	0.403000													36	304					0	0	0.00195071	0	0
NMNAT3	349565	broad.mit.edu	37	3	139292486	139292486	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:139292486C>T	ENST00000406164.1	-	5	782	c.219G>A	c.(217-219)caG>caA	p.Q73Q	NMNAT3_ENST00000296202.7_Silent_p.Q110Q|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000339837.5_Silent_p.Q73Q|RP11-319G6.1_ENST00000515247.1_RNA|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000512391.1_Intron|NMNAT3_ENST00000511444.1_Intron|NMNAT3_ENST00000413939.2_Intron|NMNAT3_ENST00000406824.1_5'UTR			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	110					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						GGCCTTCCATCTGGGGTGGAG	0.542000													9	38					0	0	0.000978159	0	0
OR5K1	26339	broad.mit.edu	37	3	98189104	98189104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:98189104G>A	ENST00000332650.5	+	1	781	c.684G>A	c.(682-684)atG>atA	p.M228I		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTTCAAAATGAAATCCAAAG	0.348000													5	34					0	0	0.000602214	0	0
RBFOX1	54715	broad.mit.edu	37	16	7645572	7645572	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:7645572G>A	ENST00000340209.4	+	5	802	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	RBFOX1_ENST00000311745.5_Missense_Mutation_p.E184K|RBFOX1_ENST00000355637.4_Missense_Mutation_p.E184K|RBFOX1_ENST00000550418.1_Missense_Mutation_p.E164K|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000552089.1_Missense_Mutation_p.E181K|RBFOX1_ENST00000547372.1_Missense_Mutation_p.E207K|RBFOX1_ENST00000422070.4_Missense_Mutation_p.E207K|RBFOX1_ENST00000553186.1_Missense_Mutation_p.E164K|RBFOX1_ENST00000547338.1_Missense_Mutation_p.E164K|RBFOX1_ENST00000436368.2_Missense_Mutation_p.E184K			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	164	RRM.				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CGTAACTTTCGAAAATAGTGC	0.453000													18	87					0	0	0.000958276	0	0
ZNF471	57573	broad.mit.edu	37	19	57037166	57037166	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:57037166G>A	ENST00000308031.5	+	5	1863	c.1730G>A	c.(1729-1731)gGa>gAa	p.G577E	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		ACTGAATGTGGAAAGGCTTTT	0.433000													10	47					0	0	0.000442599	0	0
SLC22A2	6582	broad.mit.edu	37	6	160666559	160666559	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:160666559C>T	ENST00000366952.1	-	8	2394	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Missense_Mutation_p.E326K			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	326					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TTGCCAGTTTCCTCTTCAAGT	0.373000													4	34					0	0	0.00024832	0	0
SCNN1B	6338	broad.mit.edu	37	16	23379265	23379265	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:23379265C>T	ENST00000343070.2	+	5	1041	c.865C>T	c.(865-867)Cct>Tct	p.P289S	SCNN1B_ENST00000307331.5_Missense_Mutation_p.P334S|SCNN1B_ENST00000568085.1_Missense_Mutation_p.P289S|SCNN1B_ENST00000568923.1_Missense_Mutation_p.P262S	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	289					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TTCGGCCAACCCTGGAACTGA	0.493000													7	90					0	0	0.000274275	0	0
BIRC8	112401	broad.mit.edu	37	19	53793465	53793465	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:53793465G>A	ENST00000426466.1	-	1	1410	c.163C>T	c.(163-165)Cct>Tct	p.P55S		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	55					apoptosis		zinc ion binding	p.P55T(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TGTTCCCAAGGATCTTCCTTG	0.433000													9	55					0	0	0.000442599	0	0
C8orf31	286122	broad.mit.edu	37	8	144130625	144130625	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:144130625G>A	ENST00000395172.1	+	5	707		c.e5-1		C8orf31_ENST00000517653.1_Splice_Site	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31											breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					tgtcattgcaggattctctcg	0.522000													12	40					0	0	0.00185496	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68725328	68725328	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:68725328C>T	ENST00000283916.6	-	2	175	c.77G>A	c.(76-78)gGg>gAg	p.G26E	TMPRSS11D_ENST00000509584.1_Intron|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Intron	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	26					proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GATCACTACCCCTGCGACGAC	0.383000													5	27					0	0	0.000602214	0	0
MLLT4	4301	broad.mit.edu	37	6	168370476	168370476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:168370476C>T	ENST00000366806.2	+	34	5478	c.5336C>T	c.(5335-5337)tCa>tTa	p.S1779L	MLLT4_ENST00000400822.3_Missense_Mutation_p.S1789L|MLLT4_ENST00000392112.1_Missense_Mutation_p.S1698L|MLLT4_ENST00000447894.2_Missense_Mutation_p.S1779L|MLLT4_ENST00000351017.4_Missense_Mutation_p.S1786L			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1779					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GATGCAGATTCACCTGGAAGT	0.428000			T	MLL	AL								5	41					0	0	0.00198382	0	0
DCTN1	1639	broad.mit.edu	37	2	74605312	74605312	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:74605312G>A	ENST00000361874.3	-	2	411	c.94C>T	c.(94-96)Cgt>Tgt	p.R32C	DCTN1_ENST00000394003.3_Missense_Mutation_p.R32C|DCTN1_ENST00000409567.3_Missense_Mutation_p.R32C|DCTN1_ENST00000409868.1_Missense_Mutation_p.R15C|DCTN1_ENST00000409240.1_Missense_Mutation_p.R15C	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	32					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						ACCTCTACACGGGAGCCCACC	0.592000													12	54					0	0	0.00244969	0	0
SLC22A16	85413	broad.mit.edu	37	6	110757127	110757127	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:110757127C>T	ENST00000368919.3	-	6	1415	c.1349G>A	c.(1348-1350)gGa>gAa	p.G450E	SLC22A16_ENST00000330550.4_Missense_Mutation_p.G416E|SLC22A16_ENST00000439654.1_Missense_Mutation_p.G450E	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	450					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GGCAAATTTTCCAACCATAGC	0.348000													6	82					0	0	0.00198382	0	0
PCDH15	65217	broad.mit.edu	37	10	55955563	55955563	+	Silent	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:55955563A>G	ENST00000373965.2	-	11	1579	c.1185T>C	c.(1183-1185)ttT>ttC	p.F395F	PCDH15_ENST00000395446.1_Silent_p.F395F|PCDH15_ENST00000320301.6_Silent_p.F395F|PCDH15_ENST00000361849.3_Silent_p.F395F|PCDH15_ENST00000373957.3_Silent_p.F373F|PCDH15_ENST00000395432.2_Silent_p.F358F|PCDH15_ENST00000395438.1_Silent_p.F395F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Silent_p.F395F|PCDH15_ENST00000373955.1_Silent_p.F395F|PCDH15_ENST00000437009.1_Silent_p.F395F|PCDH15_ENST00000395445.1_Silent_p.F395F|PCDH15_ENST00000395433.1_Silent_p.F373F|PCDH15_ENST00000409834.1_5'UTR|PCDH15_ENST00000414778.1_Silent_p.F400F|PCDH15_ENST00000395440.1_Silent_p.F395F	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	395	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGGCATTGTAAAATATGGAC	0.413000										HNSCC(58;0.16)			5	62					0	0	0.000602214	0	0
TM9SF1	10548	broad.mit.edu	37	14	24661379	24661379	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:24661379G>A	ENST00000556387.1	-	8	1811	c.1778C>T	c.(1777-1779)tCt>tTt	p.S593F	TM9SF1_ENST00000396854.4_Missense_Mutation_p.S384F|TM9SF1_ENST00000528669.1_Missense_Mutation_p.S384F|TM9SF1_ENST00000524835.1_Missense_Mutation_p.S297F|TM9SF1_ENST00000530611.1_Missense_Mutation_p.S593F|TM9SF1_ENST00000261789.4_Missense_Mutation_p.S384F			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	384					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		GTCCTCACCAGAGAAGAGACT	0.532000													6	95					0	0	0.00116845	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171563	207171563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:207171563G>A	ENST00000374423.3	+	5	2697	c.2311G>A	c.(2311-2313)Gga>Aga	p.G771R		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	771							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGATGCTGAAGGAAAAGAACG	0.423000													22	103					0	0	0.00278032	0	0
ME1	4199	broad.mit.edu	37	6	84108219	84108219	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:84108219C>T	ENST00000369705.3	-	3	345	c.229G>A	c.(229-231)Gat>Aat	p.D77N	ME1_ENST00000543031.1_Missense_Mutation_p.D2N|ME1_ENST00000541327.1_Intron	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	77					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TCTTGGAGATCCATTAAGAGA	0.328000													8	69					0	0	0.000274275	0	0
SBF1	6305	broad.mit.edu	37	22	50900413	50900413	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:50900413G>A	ENST00000380817.2	-	20	2715	c.2532C>T	c.(2530-2532)acC>acT	p.T844T	SBF1_ENST00000390679.3_Silent_p.T844T|SBF1_ENST00000348911.6_Silent_p.T845T	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	844					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GGTGGTCGCTGGTGACCCCAC	0.612000													13	61					0	0	0.000566183	0	0
VEGFC	7424	broad.mit.edu	37	4	177650846	177650846	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:177650846C>T	ENST00000280193.2	-	2	617	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K		NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	68					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GTCATGAGTTCATCTACACTG	0.438000													5	22					0	0	0.00116845	0	0
OR10G7	390265	broad.mit.edu	37	11	123908941	123908941	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:123908941G>A	ENST00000330487.5	-	1	776	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCAGGTAAATGAAAAGACCAG	0.567000													8	37					0	0	0.000673444	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128990081	128990081	+	Silent	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:128990081T>C	ENST00000274487.4	+	14	2386	c.2241T>C	c.(2239-2241)tcT>tcC	p.S747S	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	747	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ATGGAACTTCTTGTGGCTATC	0.378000													12	57					0	0	0.00244969	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914561	147914561	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:147914561C>T	ENST00000361727.3	+	19	3708	c.3192C>T	c.(3190-3192)ctC>ctT	p.L1064L	CNTNAP2_ENST00000538075.1_Silent_p.L123L	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1064	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCTGCATTCTCCTCTACATCA	0.567000										HNSCC(39;0.1)			27	87					0	0	0.00106085	0	0
B3GALT1	8708	broad.mit.edu	37	2	168726259	168726259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:168726259C>T	ENST00000305861.1	+	2	1061	c.710C>T	c.(709-711)tCg>tTg	p.S237L	AC016723.4_ENST00000430546.1_RNA|B3GALT1_ENST00000392690.2_Missense_Mutation_p.S237L|AC016723.4_ENST00000436982.2_RNA	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	237					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.S237L(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCTTTCTGTTCGGGGACTGGC	0.488000													15	50					0	0	0.000422831	0	0
CD200R1L	344807	broad.mit.edu	37	3	112545857	112545857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:112545857G>A	ENST00000488794.1	-	6	1188	c.599C>T	c.(598-600)tCc>tTc	p.S200F	CD200R1L_ENST00000448932.1_Missense_Mutation_p.S200F|CD200R1L_ENST00000398214.1_Missense_Mutation_p.S221F			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	221	Ig-like C2-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						CAACTTTACGGACAGACTCTT	0.458000													5	52					0	0	0.000602214	0	0
CACNA1A	773	broad.mit.edu	37	19	13565977	13565977	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:13565977G>A	ENST00000360228.5	-	2	342	c.343C>T	c.(343-345)Ctc>Ttc	p.L115F	CACNA1A_ENST00000573710.2_Missense_Mutation_p.L115F	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	115					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)	TCCAGTGCGAGGACGATGCAA	0.453000													16	187					0	0	0.00152264	0	0
CHD3	1107	broad.mit.edu	37	17	7803930	7803930	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:7803930C>T	ENST00000380358.4	+	18	3037	c.3036C>T	c.(3034-3036)atC>atT	p.I1012I	CHD3_ENST00000330494.7_Silent_p.I953I|CHD3_ENST00000358181.4_Silent_p.I953I	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	953					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AGGACCAGATCAAGAAACTGC	0.498000													6	72					0	0	0.000157383	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95481416	95481416	+	RNA	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:95481416G>A	ENST00000432432.2	-	0	1944					NR_040113.1																						AGCCAGTCTAGACTGATAAGA	0.383000													5	70					0	0	0.00116845	0	0
CD22	933	broad.mit.edu	37	19	35823687	35823687	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:35823687G>A	ENST00000085219.5	+	3	338	c.272G>A	c.(271-273)aGg>aAg	p.R91K	CD22_ENST00000419549.2_5'UTR|CD22_ENST00000594250.1_Missense_Mutation_p.R91K|CD22_ENST00000341773.6_Missense_Mutation_p.R91K|CD22_ENST00000544992.2_Missense_Mutation_p.R91K|CD22_ENST00000536635.2_Missense_Mutation_p.R91K|CD22_ENST00000270311.6_5'UTR|CD22_ENST00000595419.1_3'UTR	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	91	Ig-like V-type.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GAGCAGAAAAGGGTGCAATTC	0.488000													11	48					0	0	0.00185496	0	0
TPH2	121278	broad.mit.edu	37	12	72335394	72335394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:72335394G>A	ENST00000333850.3	+	2	277	c.136G>A	c.(136-138)Gac>Aac	p.D46N	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	46					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CAAAAATGACGACAAAGGCAA	0.393000													8	25					0	0	0.000274275	0	0
TEX15	56154	broad.mit.edu	37	8	30704856	30704856	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:30704856C>T	ENST00000256246.2	-	1	1752	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	560										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATGGTATCTTCTTCACTCTCT	0.353000													6	62					0	0	0.000157383	0	0
GSS	2937	broad.mit.edu	37	20	33533870	33533870	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:33533870G>A	ENST00000216951.2	-	3	259	c.161C>T	c.(160-162)cCc>cTc	p.P54L	GSS_ENST00000451957.2_Missense_Mutation_p.P54L|GSS_ENST00000541098.1_5'UTR	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	54					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GACCAGTGAGGGGAAGAGCGT	0.567000													15	105					0	0	0.00074312	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943090	12943090	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:12943090G>A	ENST00000235349.5	-	2	196	c.126C>T	c.(124-126)ttC>ttT	p.F42F		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	42										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCCTCCATGAACAGTGGGG	0.612000													16	84					0	0	0.000958276	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518174	84518174	+	RNA	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:84518174T>C	ENST00000331369.5	+	0	368																											GGGAGGTGGATTTTTTCTCCT	0.488000													17	72					0	0	0.00188189	0	0
ACOT11	26027	broad.mit.edu	37	1	55074751	55074751	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:55074751G>C	ENST00000343744.2	+	16	1833	c.1751G>C	c.(1750-1752)cGg>cCg	p.R584P	ACOT11_ENST00000371316.3_Intron|ACOT11_ENST00000481208.1_3'UTR	NM_147161.3	NP_671517.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	0	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						TTGGACAACCGGAATGATCTG	0.567000													6	152					0	0	0.00198382	0	0
WIBG	84305	broad.mit.edu	37	12	56297254	56297254	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:56297254G>A	ENST00000557259.1	-	2	306	c.86C>T	c.(85-87)tCg>tTg	p.S29L	WIBG_ENST00000547925.1_Missense_Mutation_p.S30L|WIBG_ENST00000302533.6_5'UTR|WIBG_ENST00000398213.4_Silent_p.I15I|WIBG_ENST00000408946.2_Silent_p.I16I			Q9BRP8	WIBG_HUMAN	within bgcn homolog (Drosophila)	0	Required for interaction with MAGOH and RBM8A.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	protein binding|ribosome binding|RNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GTGTTGACGCGATATACTTGC	0.428000													14	63					0	0	0.000422831	0	0
ABCD2	225	broad.mit.edu	37	12	39947934	39947934	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:39947934C>T	ENST00000308666.3	-	10	2139		c.e10-1			NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2						fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						GTGGTATTTCCTGCATAATTA	0.308000													6	37					0	0	0.00198382	0	0
CLCA4	22802	broad.mit.edu	37	1	87040384	87040384	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:87040384C>T	ENST00000370563.3	+	10	1671	c.1629C>T	c.(1627-1629)ttC>ttT	p.F543F	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	543						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TGGAAAATTTCACAGTGGATG	0.408000													6	31					0	0	0.00198382	0	0
CREB1	1385	broad.mit.edu	37	2	208440042	208440042	+	Silent	SNP	C	C	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:208440042C>A	ENST00000432329.2	+	7	845	c.594C>A	c.(592-594)acC>acA	p.T198T	CREB1_ENST00000353267.3_Silent_p.T184T|CREB1_ENST00000374397.4_Intron|CREB1_ENST00000430624.1_Silent_p.T184T|CREB1_ENST00000539789.1_3'UTR|CREB1_ENST00000536726.1_Silent_p.T184T	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	198					activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)	ACAATGGTACCGATGGGGTAC	0.448000			T	EWSR1	"""clear cell sarcoma, angiomatoid fibrous histiocytoma"""								5	76					0.00116845	0.00505107	0.00116845	1	0
MORC1	27136	broad.mit.edu	37	3	108751619	108751619	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:108751619C>T	ENST00000232603.5	-	16	1595	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	MORC1_ENST00000483760.1_Missense_Mutation_p.E505K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	505					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TCAAAAAATTCTTTTTCCTGA	0.289000													11	75					0	0	0.000978159	0	0
TMPPE	643853	broad.mit.edu	37	3	33134462	33134462	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:33134462G>A	ENST00000342462.4	-	2	1416	c.1226C>T	c.(1225-1227)cCc>cTc	p.P409L	GLB1_ENST00000307377.8_Intron|GLB1_ENST00000399402.3_Intron|TMPPE_ENST00000416695.2_Missense_Mutation_p.P272L|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000307363.5_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	409						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						AGCAAAGAAGGGATTCAGGAG	0.562000													5	45					0	0	0.000602214	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95197527	95197527	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:95197527C>T	ENST00000354268.4	+	15	1919	c.1846C>T	c.(1846-1848)Ctg>Ttg	p.L616L	SMARCAD1_ENST00000457823.2_Silent_p.L616L|SMARCAD1_ENST00000509418.1_Silent_p.L186L			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	616	Helicase ATP-binding.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TGACCGTAGTCTGTTTCGACG	0.398000													7	61					0	0	0.00198382	0	0
TRIM24	8805	broad.mit.edu	37	7	138239558	138239558	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:138239558C>T	ENST00000343526.4	+	9	1592	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Silent_p.F459F			O15164	TIF1A_HUMAN	tripartite motif containing 24	459					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TATCCAAGTTCCCAACACAGA	0.498000													20	67					0	0	0.00152264	0	0
PCDHA4	56144	broad.mit.edu	37	5	140186884	140186884	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140186884G>A	ENST00000530339.1	+	1	112	c.112G>A	c.(112-114)Gag>Aag	p.E38K	PCDHA4_ENST00000356878.4_Missense_Mutation_p.E38K|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.E38K|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCTCCGAGGAGGCCAAACA	0.682000													11	83					0	0	0.00136819	0	0
ERCC3	2071	broad.mit.edu	37	2	128047394	128047394	+	Silent	SNP	G	G	A	rs114994654	by1000genomes	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:128047394G>A	ENST00000493187.2	-	5	799	c.336C>T	c.(334-336)ttC>ttT	p.F112F	ERCC3_ENST00000285398.2_Silent_p.F176F			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	176					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		AACTTTCAACGAAGTATCTGC	0.512000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				12	83					0	0	0.000308642	0	0
MXRA5	25878	broad.mit.edu	37	X	3248289	3248289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:3248289C>T	ENST00000217939.6	-	4	633	c.479G>A	c.(478-480)gGa>gAa	p.G160E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	160						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAGGAGATTTCCTTCCAAATG	0.468000													8	14					0	0	0.000442599	0	0
ITGB7	3695	broad.mit.edu	37	12	53589888	53589888	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:53589888G>A	ENST00000267082.5	-	7	1143	c.912C>T	c.(910-912)ttC>ttT	p.F304F	ITGB7_ENST00000338737.4_Silent_p.F304F|ITGB7_ENST00000422257.3_Silent_p.F304F|ITGB7_ENST00000550743.2_Silent_p.F304F	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	304	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CACTGGGCATGAAAATGCCGC	0.552000													19	41					0	0	0.00188189	0	0
CAPG	822	broad.mit.edu	37	2	85628968	85628968	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:85628968C>A	ENST00000263867.4	-	3	385	c.136G>T	c.(136-138)Gac>Tac	p.D46Y	CAPG_ENST00000409670.1_Missense_Mutation_p.D46Y|CAPG_ENST00000409921.1_Missense_Mutation_p.D46Y|CAPG_ENST00000409724.1_Missense_Mutation_p.D46Y	NM_001256140.1|NM_001747.3	NP_001243069.1|NP_001738.2	P40121	CAPG_HUMAN	capping protein (actin filament), gelsolin-like	46					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						AGGTAGGAGTCCCCCGAGAAG	0.612000													11	65					2.61681e-11	1.14803e-10	0.00244969	1	0
SPHKAP	80309	broad.mit.edu	37	2	228883126	228883126	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:228883126G>A	ENST00000392056.3	-	7	2490	c.2444C>T	c.(2443-2445)tCa>tTa	p.S815L	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S815L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	815						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTGACTACGTGATAATTGTGA	0.458000													7	102					0	0	0.000442599	0	0
OR2F1	26211	broad.mit.edu	37	7	143657992	143657992	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:143657992G>A	ENST00000392899.1	+	1	966	c.929G>A	c.(928-930)gGg>gAg	p.G310E		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AAATTCTCTGGGTTAACATCA	0.428000													5	33					0	0	0.000602214	0	0
NEB	4703	broad.mit.edu	37	2	152522747	152522747	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:152522747C>T	ENST00000397345.3	-	41	5090	c.4888G>A	c.(4888-4890)Gat>Aat	p.D1630N	NEB_ENST00000172853.10_Missense_Mutation_p.D1630N|NEB_ENST00000604864.1_Missense_Mutation_p.D1630N|NEB_ENST00000409198.1_Missense_Mutation_p.D1630N|NEB_ENST00000603639.1_Missense_Mutation_p.D1630N|NEB_ENST00000427231.2_Missense_Mutation_p.D1630N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1630					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGACCATATCCAGAGGTGTG	0.488000													11	107					0	0	0.000422831	0	0
WDR78	79819	broad.mit.edu	37	1	67356859	67356859	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:67356859C>T	ENST00000371026.3	-	4	676	c.621G>A	c.(619-621)cgG>cgA	p.R207R	WDR78_ENST00000371022.3_Silent_p.R207R|WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371023.3_Silent_p.R207R	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	207										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TCAATCTTTCCCGTTTATAGG	0.338000													11	140					0	0	0.00185496	0	0
TCP11	6954	broad.mit.edu	37	6	35088743	35088743	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:35088743C>T	ENST00000311875.5	-	6	1114	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	TCP11_ENST00000373974.4_Missense_Mutation_p.E187K|TCP11_ENST00000412155.2_Missense_Mutation_p.E182K|TCP11_ENST00000418521.2_Missense_Mutation_p.E157K|TCP11_ENST00000444780.2_Missense_Mutation_p.E228K|TCP11_ENST00000373979.2_Missense_Mutation_p.E158K|TCP11_ENST00000512012.1_Missense_Mutation_p.E220K|TCP11_ENST00000244645.3_Missense_Mutation_p.E158K			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	220					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						ATGGAATGTTCCTGCAGGTGG	0.478000													37	162					0	0	0.00128727	0	0
APCS	325	broad.mit.edu	37	1	159558471	159558471	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:159558471C>T	ENST00000255040.2	+	2	742	c.645C>T	c.(643-645)gtC>gtT	p.V215V		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	215	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)					GAGGATATGTCATCATCAAAC	0.473000													15	48					0	0	0.000566183	0	0
SLX4	84464	broad.mit.edu	37	16	3633395	3633395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:3633395G>A	ENST00000294008.3	-	14	5496	c.4856C>T	c.(4855-4857)cCg>cTg	p.P1619L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1619	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CTGCAACAGCGGCTGTGAGGA	0.612000								Direct reversal of damage					17	64					0	0	0.00121646	0	0
NUDCD3	23386	broad.mit.edu	37	7	44444178	44444178	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:44444178G>T	ENST00000355451.6	-	4	926	c.647C>A	c.(646-648)tCa>tAa	p.S216*	NUDCD3_ENST00000460110.1_5'UTR	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	216	CS.									endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						AAGGGCCACTGAGACCTGGGG	0.552000													6	49					8.12818e-05	0.000353964	0.00198382	1	0
RBM17	84991	broad.mit.edu	37	10	6151963	6151963	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:6151963C>T	ENST00000446108.1	+	7	1221	c.577C>T	c.(577-579)Cct>Tct	p.P193S	RBM17_ENST00000379888.4_Missense_Mutation_p.P193S	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	193					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						CCGAGATTTTCCTTATGAAGA	0.428000													5	82					0	0	0.00198382	0	0
AOAH	313	broad.mit.edu	37	7	36570077	36570077	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:36570077C>G	ENST00000431169.1	-	19	1769	c.1469G>C	c.(1468-1470)aGt>aCt	p.S490T	AOAH_ENST00000258749.5_Missense_Mutation_p.S490T|AOAH_ENST00000491444.1_5'UTR|AOAH_ENST00000535891.1_Missense_Mutation_p.S458T|AOAH_ENST00000538464.1_Missense_Mutation_p.S212T	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	490					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						AAATTTCTCACTGGCTGCAAT	0.388000													5	54					0	0	0.00198382	0	0
GJA4	2701	broad.mit.edu	37	1	35260797	35260797	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:35260797C>T	ENST00000342280.4	+	2	1071	c.983C>T	c.(982-984)tCt>tTt	p.S328F		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	328					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGCTCTGCTTCTAAGAAGCAG	0.602000													6	43					0	0	0.000274275	0	0
MYOM3	127294	broad.mit.edu	37	1	24413179	24413179	+	Missense_Mutation	SNP	C	C	T	rs140144262		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:24413179C>T	ENST00000330966.7	-	15	1918	c.1756G>A	c.(1756-1758)Gat>Aat	p.D586N	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Missense_Mutation_p.D585N|MYOM3_ENST00000374434.3_Missense_Mutation_p.D585N			Q5VTT5	MYOM3_HUMAN	myomesin 3	585	Fibronectin type-III 2.							p.D585N(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCCGAGGGATCGCTCAGGCCA	0.632000													8	44					0	0	0.000442599	0	0
MUC16	94025	broad.mit.edu	37	19	9074140	9074140	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9074140G>A	ENST00000397910.4	-	3	13509	c.13306C>T	c.(13306-13308)Ccc>Tcc	p.P4436S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4438	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						ACATCCTTGGGACCTTTGCTT	0.493000													9	68					0	0	0.000274275	0	0
ZNF677	342926	broad.mit.edu	37	19	53741153	53741153	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:53741153G>A	ENST00000333952.4	-	5	992	c.827C>T	c.(826-828)tCg>tTg	p.S276L	ZNF677_ENST00000598513.1_Missense_Mutation_p.S276L			Q86XU0	ZN677_HUMAN	zinc finger protein 677	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		AGTGAGGTTCGAACTTTTGCT	0.383000													16	78					0	0	0.000308642	0	0
DLG5	9231	broad.mit.edu	37	10	79565592	79565592	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:79565592G>A	ENST00000372391.2	-	27	5000	c.4995C>T	c.(4993-4995)ctC>ctT	p.L1665L	DLG5_ENST00000372388.2_Silent_p.L1325L|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1665					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CAGACATGCTGAGCCTCCTGG	0.582000													6	73					0	0	0.00116845	0	0
ZNF208	7757	broad.mit.edu	37	19	22171598	22171598	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:22171598G>A	ENST00000397126.4	-	2	265	c.117C>T	c.(115-117)aaC>aaT	p.N39N	ZNF208_ENST00000601773.1_Silent_p.N39N|ZNF208_ENST00000597040.1_Silent_p.N7N|ZNF208_ENST00000599916.1_Silent_p.N39N	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)				GGAAGACCAGGTTTCTGTAGT	0.423000													10	91					0	0	0.000978159	0	0
ITGAL	3683	broad.mit.edu	37	16	30525122	30525122	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:30525122C>T	ENST00000356798.6	+	25	2997	c.2817C>T	c.(2815-2817)ttC>ttT	p.F939F	ITGAL_ENST00000358164.5_Silent_p.F855F|ITGAL_ENST00000433423.2_Silent_p.F173F	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	939					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	ATGTCAGTTTCACCCCCAAAG	0.517000													8	40					0	0	0.000442599	0	0
EBF1	1879	broad.mit.edu	37	5	158158114	158158114	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:158158114A>T	ENST00000313708.6	-	11	1370	c.1088T>A	c.(1087-1089)aTt>aAt	p.I363N	EBF1_ENST00000517373.1_Missense_Mutation_p.I355N|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.I332N	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	363					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGCCGAGGAATGACCTTCTG	0.433000			T	HMGA2	lipoma								8	49					0	0	0.000978159	0	0
TBC1D1	23216	broad.mit.edu	37	4	38023281	38023281	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:38023281C>T	ENST00000261439.4	+	6	1507	c.1152C>T	c.(1150-1152)gcC>gcT	p.A384A	TBC1D1_ENST00000508802.1_Silent_p.A384A	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	384	PID.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AGGCGCCAGCCCAGCTGTGTG	0.537000													5	12					0	0	0.000602214	0	0
MYH8	4626	broad.mit.edu	37	17	10309672	10309672	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:10309672G>A	ENST00000403437.2	-	20	2308	c.2214C>T	c.(2212-2214)ttC>ttT	p.F738F	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	738	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGCTGTCAATGAACTGTCCCT	0.338000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				10	43					0	0	0.000673444	0	0
ADAM28	10863	broad.mit.edu	37	8	24167450	24167450	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:24167450G>A	ENST00000265769.4	+	3	304	c.194G>A	c.(193-195)gGa>gAa	p.G65E	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000437154.2_Missense_Mutation_p.G65E|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_5'UTR	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	65					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.G65E(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ACAATTAATGGAAAAATTGCA	0.294000													9	74					0	0	0.000442599	0	0
CDH22	64405	broad.mit.edu	37	20	44815246	44815246	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:44815246G>A	ENST00000372262.3	-	9	2044	c.1644C>T	c.(1642-1644)ttC>ttT	p.F548F	CDH22_ENST00000537909.1_Silent_p.F548F	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	548	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CAAGCAGAGAGAAATGAGGGT	0.577000													8	36					0	0	0.000274275	0	0
NDNF	79625	broad.mit.edu	37	4	121957922	121957922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:121957922C>T	ENST00000379692.4	-	4	1730	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	402										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TGAATGCCTTCCACATTCTGA	0.408000													7	64					0	0	0.000442599	0	0
KCNMA1	3778	broad.mit.edu	37	10	78649263	78649263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:78649263C>T	ENST00000286627.5	-	26	4185	c.3233G>A	c.(3232-3234)gGa>gAa	p.G1078E	KCNMA1_ENST00000286628.8_Missense_Mutation_p.G1136E|KCNMA1_ENST00000372440.1_Missense_Mutation_p.G1078E|KCNMA1_ENST00000372443.1_Missense_Mutation_p.G1105E|KCNMA1_ENST00000354353.5_Missense_Mutation_p.G1139E|KCNMA1_ENST00000404771.3_Missense_Mutation_p.G1136E|KCNMA1_ENST00000406533.3_Missense_Mutation_p.G1140E|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.G1119E|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000429850.2_RNA	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1136					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CCGGTAAATTCCAAAACAAAG	0.443000													6	45					0	0	0.00198382	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38610462	38610462	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:38610462C>T	ENST00000222345.6	+	9	3317	c.2808C>T	c.(2806-2808)atC>atT	p.I936I		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	936					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GAGACCACATCTTCCTACAGG	0.542000													8	41					0	0	0.000157383	0	0
LY96	23643	broad.mit.edu	37	8	74917080	74917080	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:74917080G>A	ENST00000284818.2	+	2	253	c.162G>A	c.(160-162)ttG>ttA	p.L54L	LY96_ENST00000518893.1_Intron	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	54					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			GTATAGAATTGAAAAGATCCA	0.269000													33	140					0	0	0.00128727	0	0
KCNJ6	3763	broad.mit.edu	37	21	39212969	39212969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:39212969C>T	ENST00000400482.3	-	2	605	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	KCNJ6_ENST00000288309.6_Missense_Mutation_p.E6K	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	6					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CTCATGGATTCTGTCAGCTTG	0.343000													59	417					0	0	0.000781405	0	0
MIR520H	574493	broad.mit.edu	37	19	54245784	54245784	+	RNA	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:54245784T>C	ENST00000385126.1	+	0	19					NR_030215.1																						TGTGACCCTCTAGAGGAAGCA	0.403000													11	90					0	0	0.000673444	0	0
TEX13A	56157	broad.mit.edu	37	X	104464406	104464406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:104464406C>T	ENST00000372578.3	-	3	583	c.472G>A	c.(472-474)Ggg>Agg	p.G158R	TEX13A_ENST00000372575.1_Missense_Mutation_p.G158R|TEX13A_ENST00000413579.1_Missense_Mutation_p.G158R|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	158						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCTGGCCACCCTGCCCCCTGC	0.652000													4	20					0	0	0.00024832	0	0
IGSF10	285313	broad.mit.edu	37	3	151171270	151171270	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:151171270G>A	ENST00000282466.3	-	3	616	c.617C>T	c.(616-618)tCc>tTc	p.S206F		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	206					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGCATATAGGAGACCATCTC	0.438000													8	77					0	0	0.000157383	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144879432	144879432	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:144879432C>T	ENST00000369359.4	-	30	4464	c.4426G>A	c.(4426-4428)Gaa>Aaa	p.E1476K	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1476K|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1296K|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E1340K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1340K			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1340					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGGAACTCTTCCTGCTTCCCT	0.537000			T	PDGFRB	MPD								31	270					0	0	0.00148497	0	0
SAMD9	54809	broad.mit.edu	37	7	92731648	92731648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:92731648G>A	ENST00000379958.2	-	3	4032	c.3763C>T	c.(3763-3765)Cct>Tct	p.P1255S		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1255						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTTAAATAAGGAATATAGTTT	0.289000													9	131					0	0	0.000442599	0	0
OR6C4	341418	broad.mit.edu	37	12	55945720	55945720	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:55945720C>T	ENST00000394256.2	+	1	738	c.710C>T	c.(709-711)tCc>tTc	p.S237F	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						AAGGCCTTTTCCACTTGTTCC	0.438000													7	40					0	0	0.000274275	0	0
OBSCN	84033	broad.mit.edu	37	1	228509755	228509755	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:228509755G>A	ENST00000570156.2	+	66	18158	c.18084G>A	c.(18082-18084)gcG>gcA	p.A6028A	OBSCN_ENST00000366707.4_Silent_p.A2705A|OBSCN_ENST00000366709.4_Silent_p.A2190A|OBSCN_ENST00000284548.11_Silent_p.A5071A|OBSCN_ENST00000422127.1_Silent_p.A5071A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5071	Ig-like 52.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCGCCAGGCGGTAACTCGCT	0.597000													5	6					0	0	0.000157383	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128863489	128863489	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:128863489C>T	ENST00000274487.4	+	5	1262	c.1117C>T	c.(1117-1119)Cgt>Tgt	p.R373C	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	373	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GGTCAATCTTCGTGTGATAAA	0.294000													17	101					0	0	0.000958276	0	0
GPR112	139378	broad.mit.edu	37	X	135469917	135469917	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:135469917C>G	ENST00000394143.1	+	16	8086	c.7795C>G	c.(7795-7797)Cct>Gct	p.P2599A	GPR112_ENST00000412101.1_Missense_Mutation_p.P2394A|GPR112_ENST00000394141.1_Missense_Mutation_p.P2394A|GPR112_ENST00000370652.1_Missense_Mutation_p.P2599A|GPR112_ENST00000287534.4_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2599					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGGCAATGTCCCTGTGGGAGG	0.433000													10	37					0	0	0.000673444	0	0
OR2F1	26211	broad.mit.edu	37	7	143657068	143657068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:143657068G>A	ENST00000392899.1	+	1	42	c.5G>A	c.(4-6)gGa>gAa	p.G2E		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					ATTTTAATGGGAACAGATAAC	0.393000													19	76					0	0	0.00152264	0	0
DSG4	147409	broad.mit.edu	37	18	28979385	28979385	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:28979385C>T	ENST00000359747.4	+	9	1185	c.1156C>T	c.(1156-1158)Cat>Tat	p.H386Y	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.H386Y|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	386	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACCTGCATTTCATCCAAGTAC	0.418000													6	52					0	0	0.00198382	0	0
CDH18	1016	broad.mit.edu	37	5	19747139	19747139	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:19747139G>A	ENST00000507958.1	-	6	1425	c.435C>T	c.(433-435)ttC>ttT	p.F145F	CDH18_ENST00000502796.1_Silent_p.F145F|CDH18_ENST00000274170.4_Silent_p.F145F|CDH18_ENST00000511273.1_Silent_p.F145F|CDH18_ENST00000506372.1_Silent_p.F145F|CDH18_ENST00000382275.1_Silent_p.F145F			Q13634	CAD18_HUMAN	cadherin 18, type 2	145	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTTTGATGATGAACTCGGATT	0.413000													18	113					0	0	0.000566183	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256417	15256417	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:15256417C>T	ENST00000378116.4	-	8	1176	c.1170G>A	c.(1168-1170)acG>acA	p.T390T	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	390						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TCAGTTCCTTCGTGCCGGGGG	0.617000													5	42					0	0	0.00116845	0	0
TDRD7	23424	broad.mit.edu	37	9	100193324	100193324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:100193324G>A	ENST00000355295.4	+	3	612	c.317G>A	c.(316-318)aGa>aAa	p.R106K	TDRD7_ENST00000422139.2_Missense_Mutation_p.R32K	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	106					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TGTCAGATGAGAGTGAAGAAA	0.403000													6	66					0	0	0.000157383	0	0
ADRB2	154	broad.mit.edu	37	5	148207326	148207326	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:148207326T>G	ENST00000305988.4	+	1	1171	c.932T>G	c.(931-933)cTa>cGa	p.L311R		NM_000024.5	NP_000015.1	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	311					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	TACATCCTCCTAAATTGGATA	0.488000													11	91					0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179440025	179440025	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:179440025C>T	ENST00000589042.1	-	326	71058	c.70834G>A	c.(70834-70836)Ggg>Agg	p.G23612R	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G21971R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14672R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G14547R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G21044R|TTN_ENST00000342175.6_Missense_Mutation_p.G14739R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21971	Fibronectin type-III 71.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCACTTCTCCCCGCGCTGTTC	0.502000													5	10					0	0	0.00198382	0	0
LAMP3	27074	broad.mit.edu	37	3	182872090	182872090	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:182872090C>T	ENST00000265598.3	-	2	394	c.139G>A	c.(139-141)Gac>Aac	p.D47N	LAMP3_ENST00000466939.1_Missense_Mutation_p.D23N	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	47					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TTTTTTATGTCCTGTACTGTT	0.428000													21	114					0	0	0.00152264	0	0
RELN	5649	broad.mit.edu	37	7	103179742	103179742	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:103179742C>T	ENST00000428762.1	-	45	7122	c.6963G>A	c.(6961-6963)acG>acA	p.T2321T	RELN_ENST00000343529.5_Silent_p.T2321T|RELN_ENST00000424685.2_Silent_p.T2321T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2321					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.T2321T(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTTCCAAGACCGTATTACCAG	0.398000													5	35					0	0	0.000602214	0	0
ALMS1	7840	broad.mit.edu	37	2	73799601	73799601	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:73799601C>T	ENST00000264448.6	+	16	10705	c.10594C>T	c.(10594-10596)Caa>Taa	p.Q3532*	ALMS1_ENST00000409009.1_Nonsense_Mutation_p.Q3490*	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3532					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCTTCCTTATCAAAACATGGA	0.363000													9	29					0	0	0.000274275	0	0
CLDN10	9071	broad.mit.edu	37	13	96086185	96086185	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:96086185G>A	ENST00000376873.3	+	1	328	c.98G>A	c.(97-99)cGa>cAa	p.R33Q		NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	claudin 10	35					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.R33Q(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GTGACCACGCGAGCCTCCTCG	0.562000													10	40					0	0	0.000978159	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72520169	72520169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:72520169C>T	ENST00000373208.1	+	22	3241	c.3241C>T	c.(3241-3243)Cgc>Tgc	p.R1081C	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R1078C	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1078	PLAC.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AGTGCTCGATCGCTACTGCTC	0.622000													4	14					0	0	0.00024832	0	0
NMS	129521	broad.mit.edu	37	2	101098740	101098740	+	Splice_Site	SNP	C	C	T	rs139519598		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:101098740C>T	ENST00000376865.1	+	9	423	c.414_splice	c.e9-1	p.P139_splice		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	139					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						TTTTTTCAGCCCAGGAATGGA	0.423000													7	55					0	0	0.000442599	0	0
OPLAH	26873	broad.mit.edu	37	8	145112601	145112601	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:145112601A>C	ENST00000426825.1	-	10	1253	c.1172T>G	c.(1171-1173)gTg>gGg	p.V391G	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	391							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	AGCATCCGTCACTGTCACAGG	0.662000													5	26					0	0	0.00198382	0	0
MIR1179	100302235	broad.mit.edu	37	15	89151343	89151343	+	RNA	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:89151343G>A	ENST00000408703.1	+	0	6					NR_031590.1																						TTATTGGCTGGAAAGGAAGAA	0.373000													13	194					0	0	0.00074312	0	0
KRT18	3875	broad.mit.edu	37	12	53345291	53345291	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:53345291T>G	ENST00000550600.1	+	5	738	c.684T>G	c.(682-684)atT>atG	p.I228M	KRT18_ENST00000388837.2_Missense_Mutation_p.I228M|KRT18_ENST00000388835.3_Missense_Mutation_p.I228M			P05783	K1C18_HUMAN	keratin 18	228	Linker 12.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						AAGCCCAGATTGCCAGCTCTG	0.552000													11	39					0	0	0.00185496	0	0
SCN11A	11280	broad.mit.edu	37	3	38936098	38936098	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:38936098C>T	ENST00000450244.1	-	15	2959	c.2761G>A	c.(2761-2763)Gag>Aag	p.E921K	SCN11A_ENST00000444237.2_Missense_Mutation_p.E921K|SCN11A_ENST00000456224.3_Missense_Mutation_p.E921K|SCN11A_ENST00000302328.3_Missense_Mutation_p.E921K			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	921					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCTTCCTCCTCCGCAAGTGGT	0.493000													14	102					0	0	0.00185496	0	0
LRRC1	55227	broad.mit.edu	37	6	53767498	53767498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:53767498G>A	ENST00000370888.1	+	9	1136	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	287						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		AGCAGTTGGGGAATGTGAAAG	0.363000													26	122					0	0	0.00127121	0	0
SCAPER	49855	broad.mit.edu	37	15	76643603	76643603	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:76643603C>T	ENST00000538941.2	-	31	4275	c.3336G>A	c.(3334-3336)gcG>gcA	p.A1112A	SCAPER_ENST00000324767.7_Silent_p.A1358A|SCAPER_ENST00000563290.1_Silent_p.A1358A	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1357						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GCTGGTTTTCCGCTTGACCTG	0.383000													5	45					0	0	0.00116845	0	0
RORB	6096	broad.mit.edu	37	9	77300489	77300489	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:77300489A>C	ENST00000376896.2	+	10	1947	c.1335A>C	c.(1333-1335)ttA>ttC	p.L445F	RORB_ENST00000396204.2_Missense_Mutation_p.L456F	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	456	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TTCCTCCGTTATACAAGGAGC	0.453000													6	84					0	0	0.00116845	0	0
GRIK1	2897	broad.mit.edu	37	21	30971201	30971201	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:30971201C>T	ENST00000399914.1	-	8	1676	c.1155G>A	c.(1153-1155)agG>agA	p.R385R	GRIK1_ENST00000309434.7_Silent_p.R387R|GRIK1_ENST00000327783.4_Silent_p.R385R|GRIK1_ENST00000535441.1_Silent_p.R387R|GRIK1_ENST00000389125.3_Silent_p.R385R|BACH1_ENST00000462262.1_Intron|GRIK1_ENST00000472429.1_5'UTR|GRIK1-AS2_ENST00000333765.4_Intron|GRIK1_ENST00000399913.1_Silent_p.R385R|GRIK1_ENST00000399907.1_Silent_p.R385R|GRIK1_ENST00000399909.1_Silent_p.R385R|GRIK1_ENST00000389124.2_Silent_p.R385R			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	385					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CAAAATCCTTCCTCAAGCCAT	0.363000													19	107					0	0	0.00152264	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185364834	185364834	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:185364834G>A	ENST00000382199.2	-	15	1781	c.1686C>T	c.(1684-1686)atC>atT	p.I562I	IGF2BP2_ENST00000346192.3_Silent_p.I519I|IGF2BP2_ENST00000457616.2_Silent_p.I568I|IGF2BP2_ENST00000421047.2_Silent_p.I505I	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	562	KH 4.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			AGAAGTGCCCGATAATTCTGA	0.507000													36	272					0	0	0.00170553	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82363475	82363475	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:82363475C>T	ENST00000509081.1	-	9	1202	c.981G>A	c.(979-981)aaG>aaA	p.K327K	RASGEF1B_ENST00000264400.2_Silent_p.K328K|RASGEF1B_ENST00000335927.7_Silent_p.K286K			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	328	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						ATTTTGCAGTCTTCACTTTGG	0.393000													7	85					0	0	0.00198382	0	0
JPH3	57338	broad.mit.edu	37	16	87678075	87678075	+	Silent	SNP	C	C	T	rs138715600	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:87678075C>T	ENST00000284262.2	+	2	836	c.594C>T	c.(592-594)ctC>ctT	p.L198L		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	198					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GCTTCGTGCTCGTGGCCCACA	0.682000													10	51					0	0	0.000673444	0	0
KIAA0430	9665	broad.mit.edu	37	16	15698200	15698200	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:15698200C>T	ENST00000396368.3	-	22	4444	c.4238G>A	c.(4237-4239)cGa>cAa	p.R1413Q	KIAA0430_ENST00000547936.1_5'UTR|KIAA0430_ENST00000540441.2_Missense_Mutation_p.R1248Q|KIAA0430_ENST00000548025.1_Missense_Mutation_p.R1410Q|KIAA0430_ENST00000602337.1_Missense_Mutation_p.R1410Q|KIAA0430_ENST00000344181.3_Missense_Mutation_p.R1015Q|KIAA0430_ENST00000551742.1_Missense_Mutation_p.R1413Q	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1412						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGTGAGAGATCGCAGAGACTT	0.468000													14	86					0	0	0.000566183	0	0
BCL11A	53335	broad.mit.edu	37	2	60687970	60687970	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:60687970C>T	ENST00000335712.6	-	4	2304	c.2077G>A	c.(2077-2079)Gag>Aag	p.E693K	BCL11A_ENST00000538214.1_Missense_Mutation_p.E659K|BCL11A_ENST00000537768.1_Missense_Mutation_p.E362K|BCL11A_ENST00000356842.4_Missense_Mutation_p.E693K|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.E659K|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	693					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTCCCGTTCTCCGAGGAGTGC	0.647000			T	IGH@	B-CLL								12	171					0	0	0.000566183	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811039	5811039	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:5811039G>A	ENST00000381095.3	-	6	2897	c.2270C>T	c.(2269-2271)cCg>cTg	p.P757L	NLGN4X_ENST00000538097.1_Missense_Mutation_p.P757L|NLGN4X_ENST00000275857.6_Missense_Mutation_p.P757L|NLGN4X_ENST00000381092.1_Missense_Mutation_p.P757L|NLGN4X_ENST00000381093.2_Missense_Mutation_p.P777L	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	757					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTAGTCTGGCGGGCAGGTGAG	0.562000													16	32					0	0	0.000958276	0	0
OR7D4	125958	broad.mit.edu	37	19	9324983	9324983	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9324983G>A	ENST00000308682.2	-	1	559	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GTTCACAGAAGAAATGCGGAA	0.498000													6	65					0	0	0.00198382	0	0
MYCN	4613	broad.mit.edu	37	2	16086192	16086192	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:16086192G>A	ENST00000281043.3	+	3	1665	c.1368G>A	c.(1366-1368)aaG>aaA	p.K456K		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	456					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			AGTTGCTAAAGAAAATTGAAC	0.438000			A		neuroblastoma								23	94					0	0	0.00278032	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815429	106815429	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:106815429G>A	ENST00000407775.2	+	8	3369	c.3119G>A	c.(3118-3120)gGa>gAa	p.G1040E	ZFPM2_ENST00000520492.1_Missense_Mutation_p.G908E|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G908E|ZFPM2_ENST00000378472.4_Missense_Mutation_p.G771E|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1040					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAAAATCGAGGAATGGTAATA	0.473000													4	24					0	0	0.000602214	0	0
OR5A1	219982	broad.mit.edu	37	11	59210711	59210711	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:59210711C>T	ENST00000302030.2	+	1	95	c.70C>T	c.(70-72)Cca>Tca	p.P24S		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CACAGACCATCCAGAACTCCA	0.532000													13	71					0	0	0.00244969	0	0
GFRAL	389400	broad.mit.edu	37	6	55264195	55264195	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:55264195G>A	ENST00000340465.2	+	8	1163	c.1077G>A	c.(1075-1077)atG>atA	p.M359I		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	359						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCATGTGCATGACAGTCACCT	0.328000													20	84					0	0	0.000720815	0	0
BICC1	80114	broad.mit.edu	37	10	60558161	60558161	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:60558161C>T	ENST00000373886.3	+	11	1373	c.1369C>T	c.(1369-1371)Ctt>Ttt	p.L457F	BICC1_ENST00000263103.1_Missense_Mutation_p.L83F	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	457					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TATTACAGGTCTTTTGGGACC	0.353000													10	61					0	0	0.00185496	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417662	150417662	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:150417662C>T	ENST00000307194.5	+	3	710	c.570C>T	c.(568-570)aaC>aaT	p.N190N		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTTTGATAACCGGGCCACCG	0.677000													6	36					0	0	0.00198382	0	0
CTSL3P	392360	broad.mit.edu	37	9	90396141	90396141	+	RNA	SNP	C	C	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:90396141C>A	ENST00000354530.2	+	0	517					NR_027917.1																						tgaggtggcacaggtcatcac	0.468000													4	31					0.000602214	0.00261394	0.000602214	1	0
SLC34A2	10568	broad.mit.edu	37	4	25677918	25677918	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:25677918C>G	ENST00000382051.3	+	13	1670	c.1620C>G	c.(1618-1620)atC>atG	p.I540M	SLC34A2_ENST00000503434.1_Missense_Mutation_p.I539M|SLC34A2_ENST00000504570.1_Missense_Mutation_p.I539M	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	540					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TCTTCCTGATCCCGCTGACGG	0.607000			T	ROS1	NSCLC								17	90					0	0	0.00278032	0	0
FREM2	341640	broad.mit.edu	37	13	39358792	39358792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:39358792G>A	ENST00000280481.7	+	6	6082	c.5866G>A	c.(5866-5868)Gaa>Aaa	p.E1956K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1956	Calx-beta 2.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGACAAAGATGAACGGGAGAA	0.488000													9	44					0	0	0.000673444	0	0
UBQLNL	143630	broad.mit.edu	37	11	5536967	5536967	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:5536967G>A	ENST00000380184.1	-	1	968	c.705C>T	c.(703-705)atC>atT	p.I235I	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	235										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TTATCTCTTGGATCATAGCAA	0.458000													19	179					0	0	0.000586117	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138418922	138418922	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:138418922G>A	ENST00000310018.2	-	16	1932	c.1650C>T	c.(1648-1650)gtC>gtT	p.V550V	ATP6V0A4_ENST00000353492.4_Silent_p.V550V|ATP6V0A4_ENST00000393054.1_Silent_p.V550V	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	550					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AAACCATCTGGACAATTCCCA	0.423000													6	74					0	0	0.00198382	0	0
LNX2	222484	broad.mit.edu	37	13	28141846	28141846	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:28141846G>A	ENST00000316334.3	-	4	915	c.786C>T	c.(784-786)atC>atT	p.I262I		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	262	PDZ 1.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		AGACCTCCTGGATGACAATGT	0.433000													9	51					0	0	0.000673444	0	0
PRAMEF17	391004	broad.mit.edu	37	1	13716882	13716882	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:13716882C>T	ENST00000376098.4	+	2	395	c.369C>T	c.(367-369)tcC>tcT	p.S123S		NM_001099851.1	NP_001093321.1	Q5VTA0	PRA17_HUMAN	PRAME family member 17	123										kidney(1)|lung(2)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCCTCTCCTGCTCCCCAG	0.537000													17	121					0	0	0.00188189	0	0
DAGLA	747	broad.mit.edu	37	11	61508053	61508053	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:61508053G>A	ENST00000257215.5	+	18	2088	c.1972G>A	c.(1972-1974)Ggg>Agg	p.G658R		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	658					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGTCATGGAGGGGCTCAACAA	0.577000													10	84					0	0	0.000978159	0	0
GDF3	9573	broad.mit.edu	37	12	7843273	7843273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:7843273G>A	ENST00000329913.3	-	2	343	c.296C>T	c.(295-297)tCc>tTc	p.S99F		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	99					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGAAGCTTGGGAAATTTTCTT	0.433000													16	83					0	0	0.000422831	0	0
NLRP13	126204	broad.mit.edu	37	19	56435345	56435345	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:56435345C>T	ENST00000588751.1	-	4	482	c.457_splice	c.e4-1	p.G153_splice	NLRP13_ENST00000342929.3_Splice_Site_p.G153_splice			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	153							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CTGTACATTCCCTGAAATAAA	0.418000													10	63					0	0	0.00244969	0	0
ABCB11	8647	broad.mit.edu	37	2	169830229	169830229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:169830229C>T	ENST00000263817.6	-	13	1554	c.1430G>A	c.(1429-1431)gGa>gAa	p.G477E		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	477	ABC transporter 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	ACCCACCATTCCTTCACAGGG	0.453000													7	48					0	0	0.000157383	0	0
KLHL1	57626	broad.mit.edu	37	13	70681382	70681382	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:70681382C>T	ENST00000377844.4	-	1	1209	c.450G>A	c.(448-450)gtG>gtA	p.V150V	ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_Silent_p.V18V	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	150					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGTCTGGCTCCACTTTGAGCT	0.532000													12	138					0	0	0.000978159	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554780	140554780	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140554780G>A	ENST00000231137.3	+	1	2538	c.2364G>A	c.(2362-2364)caG>caA	p.Q788Q		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		788					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCATTTCAGAATAATTTGG	0.438000													9	138					0	0	0.000673444	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857878	9857878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:9857878C>T	ENST00000396573.2	-	14	3832	c.3523G>A	c.(3523-3525)Gaa>Aaa	p.E1175K	GRIN2A_ENST00000404927.2_Missense_Mutation_p.E1175K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E1018K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E1175K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E1175K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E1175K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1175					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.E1175K(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGCCCCTCTTCATTATGCAAG	0.557000													23	127					0	0	0.000586117	0	0
TUBAL3	79861	broad.mit.edu	37	10	5443047	5443047	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:5443047C>T	ENST00000380419.3	-	2	44	c.7G>A	c.(7-9)Gag>Aag	p.E3K	TUBAL3_ENST00000479328.1_Intron	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	3					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GAAAGGCACTCCCTCTAAAAT	0.483000													9	59					0	0	0.000978159	0	0
OR9A2	135924	broad.mit.edu	37	7	142723341	142723341	+	Silent	SNP	G	G	A	rs79423237		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:142723341G>A	ENST00000350513.2	-	1	941	c.879C>T	c.(877-879)gtC>gtT	p.V293V		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GGGCCTCTTTGACTTTGTCAT	0.438000													41	102					0	0	0.000781405	0	0
SERPINA7	6906	broad.mit.edu	37	X	105277506	105277506	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:105277506G>A	ENST00000327674.4	-	4	1568	c.1233C>T	c.(1231-1233)aaC>aaT	p.N411N	SERPINA7_ENST00000372563.1_Silent_p.N411N			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	411					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	CTTCCGTTGGGTTCACAACTT	0.388000													11	60					0	0	0.00244969	0	0
CDKAL1	54901	broad.mit.edu	37	6	21198298	21198298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:21198298C>T	ENST00000274695.4	+	14	1513	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	CDKAL1_ENST00000378624.4_Missense_Mutation_p.S358F|CDKAL1_ENST00000378610.1_Missense_Mutation_p.S449F	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	449	TRAM.				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TCTTTTGATTCCAAGTTTTAT	0.378000													33	517					0	0	0.00111076	0	0
DMBX1	127343	broad.mit.edu	37	1	46977718	46977718	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:46977718C>T	ENST00000371956.4	+	4	716	c.701C>T	c.(700-702)tCc>tTc	p.S234F	DMBX1_ENST00000360032.3_Missense_Mutation_p.S229F	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	234					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CTTGCAGATTCCCCAGGCAGC	0.612000													14	104					0	0	0.000958276	0	0
MX1	4599	broad.mit.edu	37	21	42815719	42815719	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:42815719C>T	ENST00000398600.2	+	13	1959	c.934C>T	c.(934-936)Ctg>Ttg	p.L312L	MX1_ENST00000288383.6_Silent_p.L289L|MX1_ENST00000398598.3_Silent_p.L312L|MX1_ENST00000455164.2_Silent_p.L312L	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	312					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				TTCTAGGGATCTGCTGGAGGA	0.507000													12	171					0	0	0.000308642	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242252	87242252	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:87242252C>T	ENST00000297524.3	-	1	358	c.255G>A	c.(253-255)aaG>aaA	p.K85K	SLC7A13_ENST00000419776.2_Silent_p.K85K|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	85						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CAAAGTATCTCTTGAGAAAAT	0.478000													5	26					0	0	0.00116845	0	0
MUC16	94025	broad.mit.edu	37	19	9063627	9063627	+	Missense_Mutation	SNP	C	C	T	rs143337869	by1000genomes	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9063627C>T	ENST00000397910.4	-	3	24022	c.23819G>A	c.(23818-23820)gGa>gAa	p.G7940E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7942	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						GTGTGAAAATCCTTGAGATAT	0.463000													7	59					0	0	0.000442599	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74911432	74911432	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:74911432G>A	ENST00000289575.5	+	11	2158	c.1763_splice	c.e11+1	p.R588_splice	SLCO2B1_ENST00000428359.2_Splice_Site_p.R566_splice|SLCO2B1_ENST00000454962.2_Splice_Site_p.R361_splice|SLCO2B1_ENST00000532236.1_Splice_Site_p.R472_splice|SLCO2B1_ENST00000341411.4_Splice_Site_p.R361_splice|SLCO2B1_ENST00000525650.1_Splice_Site_p.R444_splice|SLCO2B1_ENST00000531756.1_Splice_Site_p.R333_splice	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	588					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CTCATCCTAAGGTGAAGGTGG	0.602000													6	66					0	0	0.00116845	0	0
CSMD2	114784	broad.mit.edu	37	1	34180320	34180320	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:34180320C>T	ENST00000373381.4	-	21	3449	c.3273G>A	c.(3271-3273)aaG>aaA	p.K1091K		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1051	Sushi 6.					integral to membrane|plasma membrane	protein binding	p.K1051N(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACTGCAAGCCCTTCCGGATGC	0.652000													4	34					0	0	0.00024832	0	0
CIT	11113	broad.mit.edu	37	12	120221755	120221755	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:120221755G>A	ENST00000392521.2	-	12	1557	c.1502C>T	c.(1501-1503)tCc>tTc	p.S501F	CIT_ENST00000261833.7_Missense_Mutation_p.S501F|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	501					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTCCAGGAGGGATCTCTGAGT	0.557000													24	101					0	0	0.000878237	0	0
CD97	976	broad.mit.edu	37	19	14513433	14513433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:14513433C>T	ENST00000242786.5	+	12	1288	c.1208C>T	c.(1207-1209)tCc>tTc	p.S403F	CD97_ENST00000357355.3_Missense_Mutation_p.S354F|CD97_ENST00000358600.3_Missense_Mutation_p.S310F	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	403					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGCATCCTCTCCATCCAGAAC	0.572000													5	65					0	0	0.000602214	0	0
IGSF10	285313	broad.mit.edu	37	3	151154752	151154752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:151154752G>A	ENST00000282466.3	-	6	7596	c.7597C>T	c.(7597-7599)Cgt>Tgt	p.R2533C	IGSF10_ENST00000495443.1_5'UTR|MED12L_ENST00000474524.1_3'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2533	Ig-like C2-type 12.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGGGTGGACGATTTGTAATT	0.483000													7	56					0	0	0.000274275	0	0
NLRP3	114548	broad.mit.edu	37	1	247582349	247582349	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:247582349G>A	ENST00000366497.2	+	2	1033	c.253G>A	c.(253-255)Gag>Aag	p.E85K	NLRP3_ENST00000366496.2_Missense_Mutation_p.E85K|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.E85K|NLRP3_ENST00000348069.2_Missense_Mutation_p.E85K|NLRP3_ENST00000391828.3_Missense_Mutation_p.E85K|NLRP3_ENST00000391827.2_Missense_Mutation_p.E85K	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	85	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGACCTTTATGAGAAAGCAAA	0.463000													12	40					0	0	0.000422831	0	0
GPC4	2239	broad.mit.edu	37	X	132439917	132439917	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:132439917G>A	ENST00000370828.3	-	6	1562	c.1038C>T	c.(1036-1038)ccC>ccT	p.P346P	GPC4_ENST00000535467.1_Silent_p.P276P	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	346					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CAGCTGGGAGGGGCTTGGGGG	0.592000													32	66					0	0	0.00148497	0	0
TAAR2	9287	broad.mit.edu	37	6	132939122	132939122	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:132939122G>A	ENST00000275191.2	-	1	195	c.88C>T	c.(88-90)Cac>Tac	p.H30Y	TAAR2_ENST00000367931.1_Missense_Mutation_p.H75Y|TAAR2_ENST00000537809.1_Missense_Mutation_p.H30Y	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	75						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		GTTGGTGTGTGAAGCTGCTTG	0.433000													13	40					0	0	0.00244969	0	0
CCDC19	25790	broad.mit.edu	37	1	159847181	159847181	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:159847181C>T	ENST00000426543.2	-	9	1316	c.861G>A	c.(859-861)ttG>ttA	p.L287L	CCDC19_ENST00000368099.4_Silent_p.L372L|CCDC19_ENST00000476696.1_5'UTR			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	372						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GCATGGCCCTCAAGCGTGCGA	0.547000													27	148					0	0	0.00178596	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642844	127642844	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:127642844C>T	ENST00000405109.1	+	2	1407	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S	KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.P314S|KBTBD12_ENST00000407609.3_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	314										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CATCTCATCTCCCAAGTACGG	0.418000													6	58					0	0	0.00116845	0	0
FAM160B1	57700	broad.mit.edu	37	10	116595897	116595897	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:116595897C>T	ENST00000369248.4	+	5	749	c.414C>T	c.(412-414)ctC>ctT	p.L138L	FAM160B1_ENST00000369250.3_Silent_p.L138L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	138										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TAATTAGACTCTGTGGTGAAG	0.328000													25	218					0	0	0.00127121	0	0
BTBD11	121551	broad.mit.edu	37	12	108045516	108045516	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:108045516G>A	ENST00000280758.5	+	16	3585	c.3057G>A	c.(3055-3057)gcG>gcA	p.A1019A	BTBD11_ENST00000420571.2_Silent_p.A900A|BTBD11_ENST00000494235.2_Silent_p.A98A|BTBD11_ENST00000357167.4_Silent_p.A556A	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1019						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TTATCTGTGCGAAAAGCATCA	0.483000													8	62					0	0	0.000442599	0	0
LOC101928215	101928215	broad.mit.edu	37	16	29115349	29115349	+	RNA	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:29115349C>T	ENST00000562618.1	-	0	1468				RRN3P2_ENST00000564580.1_RNA																							ATTTTGACTTCTGCTGAAGTA	0.333000													6	26					0	0	0.000157383	0	0
ZNF677	342926	broad.mit.edu	37	19	53741052	53741052	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:53741052G>A	ENST00000333952.4	-	5	1093	c.928C>T	c.(928-930)Cag>Tag	p.Q310*	ZNF677_ENST00000598513.1_Nonsense_Mutation_p.Q310*			Q86XU0	ZN677_HUMAN	zinc finger protein 677	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TGGACTCTCTGATGCCTAGTG	0.418000													10	110					0	0	0.000673444	0	0
TAP2	6891	broad.mit.edu	37	6	32782951	32782951	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:32782951G>A	ENST00000452392.2	-	13	2225	c.2052C>T	c.(2050-2052)acC>acT	p.T684T	HLA-DOB_ENST00000438763.2_Silent_p.T77T			Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										GCCCCAGCTTGGTCAATGCCA	0.532000													13	58					0	0	0.00244969	0	0
NR5A2	2494	broad.mit.edu	37	1	200090020	200090020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:200090020C>T	ENST00000367362.3	+	7	1561	c.1315C>T	c.(1315-1317)Cgt>Tgt	p.R439C	NR5A2_ENST00000544748.1_Missense_Mutation_p.R367C|NR5A2_ENST00000236914.3_Missense_Mutation_p.R393C	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	439					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GGCAAAACTTCGTTCTCTCCA	0.438000													17	73					0	0	0.00074312	0	0
RAB3IP	117177	broad.mit.edu	37	12	70206574	70206574	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:70206574G>A	ENST00000550536.1	+	9	1652	c.1195G>A	c.(1195-1197)Ggc>Agc	p.G399S	RAB3IP_ENST00000550847.1_Missense_Mutation_p.G90S|RAB3IP_ENST00000551641.1_Missense_Mutation_p.G177S|AC025263.3_ENST00000550437.1_Missense_Mutation_p.G24S|RAB3IP_ENST00000483530.2_Intron|RAB3IP_ENST00000247833.7_Missense_Mutation_p.G383S|RAB3IP_ENST00000325555.9_Missense_Mutation_p.G177S|RAB3IP_ENST00000553099.1_Missense_Mutation_p.G177S|RAB3IP_ENST00000362025.5_Intron	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	399					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TGCTCTCACTGGCCAGAGTAA	0.348000													8	37					0	0	0.000442599	0	0
SVEP1	79987	broad.mit.edu	37	9	113198674	113198674	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:113198674G>A	ENST00000401783.2	-	28	5086	c.4750C>T	c.(4750-4752)Ctg>Ttg	p.L1584L	SVEP1_ENST00000374469.1_Silent_p.L1561L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1584	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGTGGAGACAGGACATAGTCC	0.448000													14	95					0	0	0.00244969	0	0
NMUR2	56923	broad.mit.edu	37	5	151784348	151784348	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:151784348G>A	ENST00000255262.3	-	1	492	c.327C>T	c.(325-327)aaC>aaT	p.N109N	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	109					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGAAAGGGTAGTTGCGCCACA	0.592000													14	51					0	0	0.00185496	0	0
TRIM15	89870	broad.mit.edu	37	6	30131762	30131762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:30131762C>T	ENST00000376694.4	+	1	770	c.301C>T	c.(301-303)Ctc>Ttc	p.L101F	TRIM15_ENST00000376688.1_Missense_Mutation_p.L101F	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	101					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						TGCCGAGTTCCTCTGTGTGTT	0.612000													4	44					0	0	0.00024832	0	0
SELE	6401	broad.mit.edu	37	1	169696641	169696641	+	Silent	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:169696641A>G	ENST00000333360.7	-	10	1633	c.1494T>C	c.(1492-1494)gtT>gtC	p.V498V	SELE_ENST00000367781.4_Silent_p.V435V|SELE_ENST00000367776.1_Silent_p.V435V|SELE_ENST00000367780.4_Silent_p.V373V|SELE_ENST00000367782.4_Silent_p.V435V|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367775.1_Silent_p.V373V|SELE_ENST00000367774.1_Silent_p.V372V|SELE_ENST00000367779.4_Silent_p.V372V|SELE_ENST00000367777.1_Silent_p.V435V	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	498	Sushi 6.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TCTTTCCCGGAACTGCCAGGC	0.478000													4	45					0	0	0.00116845	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146825839	146825839	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:146825839A>T	ENST00000361727.3	+	7	1510	c.994A>T	c.(994-996)Aat>Tat	p.N332Y		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	332	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGTAGAAAGAATTTCAAAGG	0.398000										HNSCC(39;0.1)			12	79					0	0	0.00185496	0	0
NKD2	85409	broad.mit.edu	37	5	1032302	1032302	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:1032302C>T	ENST00000296849.5	+	4	406	c.177C>T	c.(175-177)ttC>ttT	p.F59F	NKD2_ENST00000537972.1_Silent_p.F59F|NKD2_ENST00000274150.4_Silent_p.F59F	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	59	Targeting to the basolateral cell membrane.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			AGGGGCCTTTCCGGGAGGACC	0.642000													9	48					0	0	0.00136819	0	0
RERGL	79785	broad.mit.edu	37	12	18234187	18234187	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:18234187C>T	ENST00000229002.2	-	6	762	c.556G>A	c.(556-558)Gga>Aga	p.G186R	RERGL_ENST00000538724.1_Missense_Mutation_p.G185R	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	186	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						GATTTAGATCCACTGGGACGT	0.388000													9	41					0	0	0.000978159	0	0
KMT2C	58508	broad.mit.edu	37	7	151873959	151873959	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:151873959G>T	ENST00000355193.2	-	38	8797	c.8579C>A	c.(8578-8580)tCa>tAa	p.S2860*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.S2860*					lysine (K)-specific methyltransferase 2C																		ATTTAGGTCTGAGTGAGCAGA	0.403000													8	162					0.000157383	0.000684807	0.000157383	1	0
PRAMEF2	65122	broad.mit.edu	37	1	12919613	12919613	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:12919613G>A	ENST00000240189.2	+	3	440	c.353G>A	c.(352-354)gGa>gAa	p.G118E		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	118										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGATGGCCTGGAGCCTGGGCC	0.537000													47	167					0	0	0.000781405	0	0
HDAC9	9734	broad.mit.edu	37	7	18767250	18767250	+	Silent	SNP	T	T	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:18767250T>G	ENST00000406451.3	+	13	1920	c.1770T>G	c.(1768-1770)gcT>gcG	p.A590A	HDAC9_ENST00000441542.2_Silent_p.A593A|HDAC9_ENST00000432645.2_Silent_p.A590A|HDAC9_ENST00000401921.1_Silent_p.A549A	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	590					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGCGCCAAGCTCCGCTGGCTG	0.547000													4	11					0	0	0.00116845	0	0
COL4A6	1288	broad.mit.edu	37	X	107436889	107436889	+	Silent	SNP	A	A	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:107436889A>T	ENST00000394872.2	-	17	1275	c.1044T>A	c.(1042-1044)gtT>gtA	p.V348V	COL4A6_ENST00000372216.4_Silent_p.V348V|COL4A6_ENST00000334504.7_Silent_p.V347V|COL4A6_ENST00000545689.1_Silent_p.V347V|COL4A6_ENST00000538570.1_Silent_p.V347V			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	348	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TATCGATGAAAACATCTGGGC	0.373000									Alport syndrome with Diffuse Leiomyomatosis				16	97					0	0	0.00152264	0	0
OSBPL6	114880	broad.mit.edu	37	2	179248804	179248804	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:179248804C>T	ENST00000190611.4	+	18	2290	c.1914C>T	c.(1912-1914)tcC>tcT	p.S638S	OSBPL6_ENST00000359685.3_Silent_p.S602S|OSBPL6_ENST00000392505.2_Silent_p.S663S|OSBPL6_ENST00000409631.1_Silent_p.S602S|OSBPL6_ENST00000315022.2_Silent_p.S642S|OSBPL6_ENST00000409045.3_Silent_p.S607S	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	638					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GATACTGCTCCACCTATTTCA	0.443000													15	176					0	0	0.000422831	0	0
LIMCH1	22998	broad.mit.edu	37	4	41496583	41496583	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:41496583G>A	ENST00000313860.7	+	2	181	c.127G>A	c.(127-129)Gat>Aat	p.D43N	LIMCH1_ENST00000512820.1_Missense_Mutation_p.D43N|LIMCH1_ENST00000512632.1_Missense_Mutation_p.D43N|LIMCH1_ENST00000508501.1_Missense_Mutation_p.D43N|LIMCH1_ENST00000512946.1_Missense_Mutation_p.D43N|LIMCH1_ENST00000509638.1_Intron|LIMCH1_ENST00000513024.1_5'UTR	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	43	CH.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TGGTGATAAAGATTTTCGGAC	0.308000													11	159					0	0	0.00185496	0	0
FRG1B	284802	broad.mit.edu	37	20	29628251	29628251	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:29628251A>G	ENST00000278882.3	+	6	633	c.253A>G	c.(253-255)Aat>Gat	p.N85D	FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D|FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D														p.N85D(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTGGCCTCAAATAGCTGCTT	0.358000													5	68					0	0	0.000442599	0	0
CEACAM20	125931	broad.mit.edu	37	19	45021226	45021226	+	RNA	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:45021226C>T	ENST00000454753.1	-	0	1368							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AGCTCTGCCTCTATGGTGCTG	0.577000													29	186					0	0	0.000692331	0	0
ARAP3	64411	broad.mit.edu	37	5	141059648	141059648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:141059648G>A	ENST00000239440.4	-	2	471	c.406C>T	c.(406-408)Cct>Tct	p.P136S	ARAP3_ENST00000508305.1_Missense_Mutation_p.P58S	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	136	Pro-rich.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGGAGAGGAGGAGGCCTTGGG	0.617000													27	132					0	0	0.00058488	0	0
PHACTR1	221692	broad.mit.edu	37	6	12749886	12749886	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:12749886G>A	ENST00000379350.1	+	3	243	c.114G>A	c.(112-114)gcG>gcA	p.A38A	PHACTR1_ENST00000379348.2_Silent_p.A38A|PHACTR1_ENST00000332995.7_Silent_p.A38A			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	38						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CTCGCCGGGCGACCCTGCTCC	0.677000													8	100					0	0	0.000157383	0	0
GDF3	9573	broad.mit.edu	37	12	7842999	7842999	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:7842999C>T	ENST00000329913.3	-	2	617	c.570G>A	c.(568-570)tgG>tgA	p.W190*		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	190					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGTTGTCATTCCAATCCTTAG	0.493000													7	90					0	0	0.000442599	0	0
PAPPA	5069	broad.mit.edu	37	9	118950271	118950271	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:118950271G>A	ENST00000328252.3	+	2	1623	c.1254G>A	c.(1252-1254)aaG>aaA	p.K418K		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	418	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACATCAGCAAGATTGGGGATG	0.617000													5	39					0	0	0.00116845	0	0
KIAA1109	84162	broad.mit.edu	37	4	123113460	123113460	+	Silent	SNP	T	T	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:123113460T>G	ENST00000264501.4	+	11	1351	c.978T>G	c.(976-978)ccT>ccG	p.P326P	KIAA1109_ENST00000388738.3_Silent_p.P326P|KIAA1109_ENST00000455637.1_Silent_p.P326P			Q2LD37	K1109_HUMAN	KIAA1109	326					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAGACTTGCCTCCATGTTGGG	0.373000													13	70					0	0	0.00185496	0	0
SLC13A5	284111	broad.mit.edu	37	17	6607295	6607295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:6607295G>A	ENST00000433363.2	-	4	682	c.449C>T	c.(448-450)cCc>cTc	p.P150L	SLC13A5_ENST00000381074.4_Missense_Mutation_p.P107L|SLC13A5_ENST00000293800.6_Missense_Mutation_p.P133L|SLC13A5_ENST00000573648.1_Missense_Mutation_p.P150L	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	150						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CTCCACGATGGGCACCATCAT	0.632000													5	25					0	0	0.00116845	0	0
LPHN2	23266	broad.mit.edu	37	1	82434986	82434986	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:82434986G>A	ENST00000370728.1	+	17	3281	c.2636G>A	c.(2635-2637)cGa>cAa	p.R879Q	LPHN2_ENST00000370725.1_Missense_Mutation_p.R879Q|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Missense_Mutation_p.R879Q|LPHN2_ENST00000370721.1_Missense_Mutation_p.R804Q|LPHN2_ENST00000359929.3_Missense_Mutation_p.R866Q|LPHN2_ENST00000370715.1_Missense_Mutation_p.R866Q|LPHN2_ENST00000370717.2_Missense_Mutation_p.R879Q|LPHN2_ENST00000370727.1_Missense_Mutation_p.R879Q|LPHN2_ENST00000394879.1_Missense_Mutation_p.R866Q|LPHN2_ENST00000319517.6_Missense_Mutation_p.R866Q|LPHN2_ENST00000370723.1_Missense_Mutation_p.R866Q|LPHN2_ENST00000271029.4_Missense_Mutation_p.R879Q|LPHN2_ENST00000335786.5_Missense_Mutation_p.R879Q|LPHN2_ENST00000370713.1_Missense_Mutation_p.R866Q			O95490	LPHN2_HUMAN	latrophilin 2	879					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.R866Q(1)|p.R879Q(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CAGAGTGACCGAAATACTATT	0.408000													6	86					0	0	0.000157383	0	0
MECOM	2122	broad.mit.edu	37	3	168840516	168840516	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:168840516C>T	ENST00000464456.1	-	5	1467		c.e5-1		MECOM_ENST00000433243.2_Splice_Site|MECOM_ENST00000494292.1_Splice_Site|MECOM_ENST00000264674.3_Splice_Site|MECOM_ENST00000392736.3_Splice_Site|MECOM_ENST00000472280.1_Splice_Site|MECOM_ENST00000468789.1_Splice_Site|MECOM_ENST00000460814.1_Splice_Site	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus								sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTTCTCCAGGCTGTTAAGAGA	0.368000													4	35					0	0	0.000602214	0	0
DNAH8	1769	broad.mit.edu	37	6	38704988	38704988	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:38704988A>T	ENST00000359357.3	+	4	511	c.257A>T	c.(256-258)cAt>cTt	p.H86L	DNAH8_ENST00000449981.2_Missense_Mutation_p.H303L|DNAH8_ENST00000441566.1_Missense_Mutation_p.H86L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTGAAAAACATATTTTCACT	0.323000													5	66					0	0	0.00116845	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278905	36278905	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:36278905C>T	ENST00000007510.4	+	21	3582	c.3438C>T	c.(3436-3438)ccC>ccT	p.P1146P	ARHGAP33_ENST00000314737.5_Silent_p.P985P|ARHGAP33_ENST00000378944.5_Silent_p.P982P			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1146					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCTGCTTTCCCCCTGACCACC	0.662000													5	22					0	0	0.00116845	0	0
TRBV6-6	28601	broad.mit.edu	37	7	142162116	142162116	+	RNA	SNP	C	C	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:142162116C>G	ENST00000390371.3	-	0	202																											CTTGTCGATACCAGTACATGT	0.478000													17	89					0	0	0.00121646	0	0
IKZF3	22806	broad.mit.edu	37	17	37922237	37922237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:37922237C>T	ENST00000346872.3	-	8	1397	c.1336G>A	c.(1336-1338)Ggg>Agg	p.G446R	IKZF3_ENST00000350532.3_Missense_Mutation_p.G407R|IKZF3_ENST00000394189.2_Missense_Mutation_p.G264R|IKZF3_ENST00000583368.1_Missense_Mutation_p.G199R|IKZF3_ENST00000467757.1_Missense_Mutation_p.G390R|IKZF3_ENST00000535189.1_Missense_Mutation_p.G412R|IKZF3_ENST00000377945.3_Missense_Mutation_p.G312R|IKZF3_ENST00000439167.2_Missense_Mutation_p.G373R|IKZF3_ENST00000439016.2_Missense_Mutation_p.G351R|IKZF3_ENST00000377944.3_Missense_Mutation_p.G303R|IKZF3_ENST00000377952.2_Missense_Mutation_p.G225R|IKZF3_ENST00000377958.2_Missense_Mutation_p.G359R|IKZF3_ENST00000351680.3_Missense_Mutation_p.G407R|IKZF3_ENST00000346243.3_Missense_Mutation_p.G368R	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	446					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATCACCTCCCCTTCCTTGTTG	0.567000													21	74					0	0	0.00229938	0	0
CSMD1	64478	broad.mit.edu	37	8	2813223	2813223	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:2813223G>A	ENST00000520002.1	-	65	10440	c.9885C>T	c.(9883-9885)ttC>ttT	p.F3295F	CSMD1_ENST00000602723.1_Silent_p.F3118F|CSMD1_ENST00000542608.1_Silent_p.F3117F|CSMD1_ENST00000537824.1_Silent_p.F3294F|CSMD1_ENST00000400186.3_Silent_p.F3118F|CSMD1_ENST00000602557.1_Silent_p.F3295F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3295	Sushi 28.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGTGTAGCCGAAAGTAGGAA	0.502000													14	63					0	0	0.00185496	0	0
OR6C70	390327	broad.mit.edu	37	12	55863179	55863179	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:55863179G>A	ENST00000327335.4	-	1	743	c.744C>T	c.(742-744)atC>atT	p.I248I	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TACCATAAGTGATGGAGACAA	0.398000													13	75					0	0	0.000308642	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882851	228882851	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:228882851C>T	ENST00000392056.3	-	7	2765	c.2719G>A	c.(2719-2721)Gac>Aac	p.D907N	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D907N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	907						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGCAGCAGGTCATCCCCTAAC	0.488000													36	126					0	0	0.000953801	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291491	141291491	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:141291491G>A	ENST00000247452.3	-	3	630	c.283C>T	c.(283-285)Cct>Tct	p.P95S		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	95	Ser-rich.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ctctgggaaggaccctgtgga	0.557000										HNSCC(46;0.14)			9	13					0	0	0.000274275	0	0
CLCNKA	1187	broad.mit.edu	37	1	16352730	16352730	+	Silent	SNP	C	C	T	rs115351575	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:16352730C>T	ENST00000375692.1	+	6	614	c.486C>T	c.(484-486)ttC>ttT	p.F162F	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Silent_p.F162F|CLCNKA_ENST00000439316.2_Silent_p.F119F|CLCNKA_ENST00000331433.4_Silent_p.F162F			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	162					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GCACCCTGTTCCTGGGCAAAG	0.632000													6	63					0	0	0.00198382	0	0
DCN	1634	broad.mit.edu	37	12	91572192	91572192	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:91572192G>A	ENST00000551354.1	-	2	342	c.138C>T	c.(136-138)ttC>ttT	p.F46F	DCN_ENST00000552962.1_Silent_p.F46F|DCN_ENST00000550099.1_Silent_p.F46F|DCN_ENST00000228329.5_Silent_p.F46F|DCN_ENST00000393155.1_Silent_p.F46F|DCN_ENST00000420120.2_Silent_p.F46F|DCN_ENST00000425043.1_Silent_p.F46F|DCN_ENST00000546370.1_Silent_p.F46F|DCN_ENST00000052754.5_Silent_p.F46F|DCN_ENST00000441303.2_Silent_p.F46F|DCN_ENST00000546745.1_Silent_p.F46F|DCN_ENST00000547568.2_Silent_p.F46F|DCN_ENST00000303320.3_Silent_p.F46F|DCN_ENST00000456569.2_Silent_p.F46F			P07585	PGS2_HUMAN	decorin	46					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						GGGAGGGCTCGAAGTCGCGGT	0.527000											OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	29					0	0	0.000602214	0	0
GPR32	2854	broad.mit.edu	37	19	51274922	51274922	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:51274922G>A	ENST00000270590.4	+	1	1202	c.1065G>A	c.(1063-1065)cgG>cgA	p.R355R		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	355						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ACGCCCCCCGGGAATGATGGA	0.527000													6	65					0	0	0.00198382	0	0
HCRTR1	3061	broad.mit.edu	37	1	32084964	32084964	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:32084964C>T	ENST00000403528.2	+	3	556	c.171C>T	c.(169-171)ttC>ttT	p.F57F	HCRTR1_ENST00000373706.5_Silent_p.F57F|HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373705.1_Silent_p.F57F	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	57					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TGGCTGTGTTCGTCGTGGCCC	0.587000													8	68					0	0	0.000157383	0	0
SEC24C	9632	broad.mit.edu	37	10	75519813	75519813	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:75519813C>T	ENST00000339365.2	+	6	681	c.519C>T	c.(517-519)ttC>ttT	p.F173F	SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Silent_p.F31F|SEC24C_ENST00000411652.2_Silent_p.F31F|SEC24C_ENST00000345254.4_Silent_p.F173F	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	173					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CAGGAAGTTTCCCTAACTCTG	0.552000													6	97					0	0	0.00198382	0	0
ANLN	54443	broad.mit.edu	37	7	36478815	36478815	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:36478815C>T	ENST00000265748.2	+	21	3107	c.2886C>T	c.(2884-2886)gtC>gtT	p.V962V	ANLN_ENST00000396068.2_Silent_p.V925V	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	962	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CTTTGCAGGTCCCCTTTTTAT	0.294000													9	98					0	0	0.000673444	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559502	129559502	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:129559502C>T	ENST00000422113.2	-	9	2544	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	TMEM132D_ENST00000389441.4_Missense_Mutation_p.E278K	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	740						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)		ACTACCTTCTCATCCAAAGAT	0.498000													10	60					0	0	0.000442599	0	0
SPEF2	79925	broad.mit.edu	37	5	35814644	35814644	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:35814644G>A	ENST00000356031.3	+	37	5612	c.5458G>A	c.(5458-5460)Gaa>Aaa	p.E1820K	SPEF2_ENST00000303129.4_Missense_Mutation_p.E617K|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1820					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACATACAGAGGAAAAGAAATG	0.313000													9	79					0	0	0.000274275	0	0
CT45A5	441521	broad.mit.edu	37	X	134948038	134948038	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:134948038C>T	ENST00000370724.3	-	3	531	c.287G>A	c.(286-288)gGa>gAa	p.G96E	CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000491480.1_Missense_Mutation_p.G96E	NM_001007551.3|NM_001172288.1	NP_001007552.1|NP_001165759.1	Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	96										endometrium(1)|large_intestine(2)|lung(6)	9						GGTAACATTTCCTCCCACAGG	0.433000													28	123					0	0	0.000814825	0	0
CRB1	23418	broad.mit.edu	37	1	197390624	197390624	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:197390624C>T	ENST00000367400.3	+	6	1801	c.1666C>T	c.(1666-1668)Ctg>Ttg	p.L556L	CRB1_ENST00000538660.1_Silent_p.L556L|CRB1_ENST00000543483.1_Silent_p.L255L|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000367399.2_Silent_p.L444L|CRB1_ENST00000544212.1_Silent_p.L37L|CRB1_ENST00000535699.1_Silent_p.L487L	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	556	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AAAGGTGCTTCTGTTCATTTC	0.453000													10	88					0	0	0.00244969	0	0
CTNNA2	1496	broad.mit.edu	37	2	80085236	80085236	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:80085236C>T	ENST00000466387.1	+	8	1120	c.396C>T	c.(394-396)tcC>tcT	p.S132S	CTNNA2_ENST00000402739.4_Silent_p.S132S|CTNNA2_ENST00000496558.1_Silent_p.S132S|CTNNA2_ENST00000540488.1_Silent_p.S132S|CTNNA2_ENST00000541047.1_Silent_p.S132S|CTNNA2_ENST00000361291.4_Silent_p.S166S			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	132					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTTTGCTCTCCGCGGTGACAC	0.522000													9	57					0	0	0.000274275	0	0
AADAC	13	broad.mit.edu	37	3	151531964	151531964	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:151531964C>T	ENST00000232892.6	+	1	140	c.14C>T	c.(13-15)tCg>tTg	p.S5L	AADAC_ENST00000488869.1_Missense_Mutation_p.S5L|RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	5					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GGAAGAAAATCGCTGTACCTT	0.423000													9	110					0	0	0.000978159	0	0
KLHL13	90293	broad.mit.edu	37	X	117106747	117106747	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:117106747G>A	ENST00000262820.3	-	1	954	c.45C>T	c.(43-45)ttC>ttT	p.F15F	KLHL13_ENST00000540167.1_Intron|KLHL13_ENST00000539496.1_Intron|KLHL13_ENST00000469946.1_Intron|KLHL13_ENST00000541812.1_Intron|KLHL13_ENST00000371882.1_Intron|KLHL13_ENST00000545703.1_Intron|KLHL13_ENST00000371878.1_Intron	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	15					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAGGAACTGGGAATTTCCAGA	0.398000													12	30					0	0	0.00244969	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717004	13717004	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:13717004G>A	ENST00000279593.3	-	13	3377	c.3168C>T	c.(3166-3168)atC>atT	p.I1056I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1056				I -> M (in Ref. 5; AAA69920).	response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CATCGGAGCGGATCAAGTCGT	0.567000													4	27					0	0	0.000602214	0	0
C11orf70	85016	broad.mit.edu	37	11	101953871	101953871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:101953871C>T	ENST00000434758.2	+	7	773	c.745C>T	c.(745-747)Cct>Tct	p.P249S		NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	249										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		TATTGTGGATCCTATCAGGCG	0.338000													27	184					0	0	0.001512	0	0
FAM47A	158724	broad.mit.edu	37	X	34148155	34148155	+	Silent	SNP	G	G	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:34148155G>C	ENST00000346193.3	-	1	2292	c.2241C>G	c.(2239-2241)ggC>ggG	p.G747G		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	747								p.G747G(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GCATTTCATAGCCCTTGCTTA	0.413000													17	67					0	0	0.00121646	0	0
BCAN	63827	broad.mit.edu	37	1	156618425	156618425	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:156618425G>A	ENST00000329117.4	+	6	1171	c.835G>A	c.(835-837)Gag>Aag	p.E279K	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.E279K	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	279	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTACTGCCAGGAGCGGGGTGC	0.617000													17	46					0	0	0.00152264	0	0
PDE6A	5145	broad.mit.edu	37	5	149324045	149324045	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:149324045G>A	ENST00000255266.5	-	1	311	c.192C>T	c.(190-192)ctC>ctT	p.L64L		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	64					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGTCCCGCAGGAGATCAAAGA	0.532000													6	40					0	0	0.00198382	0	0
ITGA8	8516	broad.mit.edu	37	10	15649739	15649739	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:15649739G>A	ENST00000378076.3	-	17	2054	c.1701C>T	c.(1699-1701)gtC>gtT	p.V567V		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	567			V -> L.		cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CAAGAGGGAAGACGCGATGAG	0.458000													8	105					0	0	0.000274275	0	0
MROH5	389690	broad.mit.edu	37	8	142490441	142490441	+	RNA	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:142490441C>T	ENST00000430863.1	-	0	938					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		TGGGGCTCACCTTCTCAGGGG	0.627000													6	14					0	0	0.00198382	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367362	234367362	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:234367362G>A	ENST00000366618.3	+	3	628	c.483G>A	c.(481-483)agG>agA	p.R161R	SLC35F3_ENST00000366617.3_Silent_p.R92R	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	92					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TGACCTTCAGGAAGTTCGACG	0.602000													26	89					0	0	0.0024448	0	0
NLRP1	22861	broad.mit.edu	37	17	5442759	5442759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:5442759G>A	ENST00000345221.3	-	7	3400	c.2846C>T	c.(2845-2847)cCt>cTt	p.P949L	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_Missense_Mutation_p.P949L|NLRP1_ENST00000577119.1_Missense_Mutation_p.P949L|NLRP1_ENST00000262467.5_Missense_Mutation_p.P949L|NLRP1_ENST00000269280.4_Missense_Mutation_p.P949L|NLRP1_ENST00000354411.3_Missense_Mutation_p.P949L	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	949					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TTTGCAGGCAGGATGCCTGAG	0.602000													4	15					0	0	0.00116845	0	0
KCNK13	56659	broad.mit.edu	37	14	90650906	90650906	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:90650906C>T	ENST00000282146.4	+	2	1227	c.786C>T	c.(784-786)ttC>ttT	p.F262F		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	262						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TTGCCAACTTCGTCTTCATCC	0.493000													9	55					0	0	0.000442599	0	0
ATP8B4	79895	broad.mit.edu	37	15	50158628	50158628	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:50158628C>T	ENST00000284509.6	-	26	3222	c.3081G>A	c.(3079-3081)ggG>ggA	p.G1027G	ATP8B4_ENST00000559829.1_Silent_p.G1027G	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1027					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGGCAATGCTCCCCCAGATGA	0.383000													6	52					0	0	0.000157383	0	0
UNC79	57578	broad.mit.edu	37	14	93943986	93943986	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:93943986G>A	ENST00000256339.4	+	0	655				UNC79_ENST00000555664.1_Silent_p.T177T|UNC79_ENST00000393151.2_Silent_p.T177T|UNC79_ENST00000553484.1_Silent_p.T177T	NM_020818.3	NP_065869.3	Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)							integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGCCCTACACGATGATATCAA	0.358000													8	86					0	0	0.000442599	0	0
FMO1	2326	broad.mit.edu	37	1	171251294	171251294	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:171251294C>T	ENST00000354841.4	+	6	1136	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	FMO1_ENST00000367750.3_Silent_p.F335F|FMO1_ENST00000402921.2_Silent_p.F272F|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	335					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CATTTGCTTTCCCCTTCCTTG	0.418000													14	53					0	0	0.000566183	0	0
POLR3A	11128	broad.mit.edu	37	10	79767571	79767571	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:79767571G>A	ENST00000372371.3	-	15	2100	c.1963C>T	c.(1963-1965)Cta>Tta	p.L655L		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	655					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CCTGACCCTAGGGTTCCTTTG	0.433000													10	92					0	0	0.00185496	0	0
KIAA0355	9710	broad.mit.edu	37	19	34833032	34833032	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:34833032C>T	ENST00000299505.6	+	10	3066	c.2193C>T	c.(2191-2193)gtC>gtT	p.V731V		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	731										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					AACCTCAAGTCCAATACTACC	0.642000													20	89					0	0	0.000586117	0	0
MROH2B	133558	broad.mit.edu	37	5	41055945	41055945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:41055945G>A	ENST00000399564.4	-	10	1382	c.932C>T	c.(931-933)cCt>cTt	p.P311L	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CAGCTCTCCAGGATTGGAATG	0.398000													15	77					0	0	0.00074312	0	0
PADI1	29943	broad.mit.edu	37	1	17548875	17548875	+	Silent	SNP	G	G	A	rs141135882		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:17548875G>A	ENST00000375471.4	+	2	275	c.183G>A	c.(181-183)gaG>gaA	p.E61E		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	61					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GTGTGAAAGAGCCCATAGGCA	0.557000													7	110					0	0	0.000274275	0	0
LRP1	4035	broad.mit.edu	37	12	57574144	57574144	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:57574144C>T	ENST00000243077.3	+	32	5734	c.5268C>T	c.(5266-5268)ctC>ctT	p.L1756L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1756					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AAAGCAAACTCTACTGGATCA	0.612000													18	131					0	0	0.000958276	0	0
KLHL26	55295	broad.mit.edu	37	19	18780075	18780075	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:18780075C>T	ENST00000599006.1	+	4	456	c.429C>T	c.(427-429)acC>acT	p.T143T	KLHL26_ENST00000300976.4_3'UTR			Q53HC5	KLH26_HUMAN	kelch-like family member 26	0										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCCCCGGGACCCTGGCCTGAC	0.706000													4	24					0	0	0.000602214	0	0
KIF27	55582	broad.mit.edu	37	9	86530216	86530216	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:86530216G>A	ENST00000297814.2	-	2	434	c.291C>T	c.(289-291)ggC>ggT	p.G97G	KIF27_ENST00000334204.2_Silent_p.G97G|KIF27_ENST00000413982.1_Silent_p.G97G	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	97	Kinesin-motor.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TACCAATATGGCCCCCTCCAA	0.398000													10	51					0	0	0.000978159	0	0
PSG8	440533	broad.mit.edu	37	19	43262261	43262261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:43262261G>A	ENST00000404209.4	-	3	698	c.602C>T	c.(601-603)aCc>aTc	p.T201I	PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Missense_Mutation_p.T79I|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.T201I	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	201	Ig-like C2-type 1.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TAGAAAGAGGGTCCTGTTGGT	0.517000													17	202					0	0	0.000566183	0	0
TGM6	343641	broad.mit.edu	37	20	2376066	2376066	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:2376066C>T	ENST00000202625.2	+	3	469	c.408C>T	c.(406-408)ttC>ttT	p.F136F	TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Silent_p.F136F	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	136					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TTCTCCTTTTCAACCCATGGT	0.572000													13	89					0	0	0.00074312	0	0
APOL5	80831	broad.mit.edu	37	22	36116687	36116687	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:36116687C>T	ENST00000249044.2	+	2	128	c.128C>T	c.(127-129)cCa>cTa	p.P43L		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	43					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GGGAAGTCCccagaacctgag	0.512000													11	19					0	0	0.000978159	0	0
DNAH3	55567	broad.mit.edu	37	16	20986660	20986660	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:20986660C>T	ENST00000261383.3	-	51	8153	c.8154G>A	c.(8152-8154)atG>atA	p.M2718I	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2718	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAATTTTCACCATCATCTTGG	0.488000													22	172					0	0	0.000720815	0	0
FRMD7	90167	broad.mit.edu	37	X	131212601	131212601	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:131212601G>A	ENST00000298542.4	-	12	1619	c.1444C>T	c.(1444-1446)Cct>Tct	p.P482S	FRMD7_ENST00000370879.1_Missense_Mutation_p.P362S|FRMD7_ENST00000464296.1_Missense_Mutation_p.P467S	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	482					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CCTGTACAAGGAATATAGGGC	0.478000													16	44					0	0	0.000308642	0	0
CCDC54	84692	broad.mit.edu	37	3	107097204	107097204	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:107097204G>A	ENST00000261058.1	+	1	1017	c.770G>A	c.(769-771)gGa>gAa	p.G257E		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	257										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GTTCATGGAGGAAAATGGACA	0.403000													14	89					0	0	0.000422831	0	0
CYP2A6	1548	broad.mit.edu	37	19	41349779	41349779	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:41349779C>T	ENST00000301141.5	-	9	1427	c.1407G>A	c.(1405-1407)aaG>aaA	p.K469K	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	469					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	CGTCAATGTCCTTAGGTGACT	0.582000													10	98					0	0	0.00136819	0	0
NLRP14	338323	broad.mit.edu	37	11	7079013	7079013	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:7079013G>A	ENST00000299481.4	+	7	2743	c.2397G>A	c.(2395-2397)ttG>ttA	p.L799L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	799					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATAATCTGTTGGATGATGGAG	0.378000													8	52					0	0	0.000274275	0	0
TYROBP	7305	broad.mit.edu	37	19	36398351	36398351	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:36398351C>T	ENST00000585901.2	-	3	244	c.226G>A	c.(226-228)Gag>Aag	p.E76K	TYROBP_ENST00000262629.4_Missense_Mutation_p.E76K|TYROBP_ENST00000424586.3_Missense_Mutation_p.E65K|TYROBP_ENST00000544690.2_Missense_Mutation_p.E65K|TYROBP_ENST00000589517.1_Missense_Mutation_p.E76K			O43914	TYOBP_HUMAN	TYRO protein tyrosine kinase binding protein	76					axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response	integral to plasma membrane|intracellular	identical protein binding|receptor signaling protein activity			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACTCACCCTCCGCAGCCCCT	0.632000													5	44					0	0	0.00116845	0	0
XKR4	114786	broad.mit.edu	37	8	56015353	56015353	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:56015353G>A	ENST00000327381.5	+	1	405	c.305G>A	c.(304-306)aGg>aAg	p.R102K		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	102						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CGCCTGGGCAGGGAGCAGCGG	0.781000													6	24					0	0	0.00116845	0	0
FADS6	283985	broad.mit.edu	37	17	72877249	72877249	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:72877249G>A	ENST00000310226.6	-	4	689	c.675C>T	c.(673-675)ttC>ttT	p.F225F		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	231					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					ATCTGGTGAGGAACATGCAGC	0.602000													4	14					0	0	0.000602214	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221192	118221192	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:118221192G>A	ENST00000402510.2	-	11	4000	c.4001C>T	c.(4000-4002)tCc>tTc	p.S1334F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1334										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGAGGCTTGGGAAGAATGTTT	0.478000													48	101					0	0	0.000781405	0	0
ZNF610	162963	broad.mit.edu	37	19	52869061	52869061	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:52869061A>G	ENST00000601151.1	+	5	753	c.301A>G	c.(301-303)Aaa>Gaa	p.K101E	ZNF610_ENST00000321287.8_Missense_Mutation_p.K144E|ZNF610_ENST00000403906.3_Missense_Mutation_p.K144E|ZNF610_ENST00000327920.8_Missense_Mutation_p.K144E	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AGCCGGAAGGAAAATTTACAG	0.353000													18	197					0	0	0.000958276	0	0
PTK6	5753	broad.mit.edu	37	20	62164989	62164989	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:62164989C>T	ENST00000217185.2	-	4	612	c.585G>A	c.(583-585)agG>agA	p.R195R	PTK6_ENST00000542869.1_Silent_p.R94R	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	195	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			ACCCCAGCTTCCTGCAGAGCG	0.642000													8	55					0	0	0.000673444	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121612634	121612634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:121612634G>A	ENST00000393386.2	+	4	755	c.344G>A	c.(343-345)gGa>gAa	p.G115E	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.G115E	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	115	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GTCAGCGGAGGAGTTTCAGAA	0.333000													14	74					0	0	0.00244969	0	0
DNAH3	55567	broad.mit.edu	37	16	20976520	20976520	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:20976520G>A	ENST00000261383.3	-	53	8685	c.8686C>T	c.(8686-8688)Cgc>Tgc	p.R2896C	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2896	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTGGCCACGCGATCGTACACC	0.567000													12	70					0	0	0.00136819	0	0
FLT3	2322	broad.mit.edu	37	13	28601286	28601286	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:28601286C>T	ENST00000380982.4	-	17	2227	c.2146G>A	c.(2146-2148)Gag>Aag	p.E716K	FLT3_ENST00000241453.7_Missense_Mutation_p.E716K|FLT3_ENST00000537084.1_Missense_Mutation_p.E716K			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	716	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TTGAAAATCTCTGTCCAAGTC	0.358000			"""Mis, O"""		"""AML, ALL"""								6	126					0	0	0.00116845	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71281992	71281992	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:71281992G>A	ENST00000335793.3	-	2	1042	c.648C>T	c.(646-648)tcC>tcT	p.S216S	CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Silent_p.S146S			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	216					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CACCCAGCATGGAGGGCCCCA	0.627000													10	43					0	0	0.00244969	0	0
UBA6	55236	broad.mit.edu	37	4	68500023	68500023	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:68500023G>A	ENST00000322244.4	-	22	2009	c.1950C>T	c.(1948-1950)tcC>tcT	p.S650S		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	650					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AAGGTTTGTGGGAAAAGGAAC	0.279000													12	76					0	0	0.00136819	0	0
ZNF561	93134	broad.mit.edu	37	19	9724727	9724727	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9724727C>T	ENST00000302851.3	-	5	657	c.294G>A	c.(292-294)ttG>ttA	p.L98L	ZNF561_ENST00000326044.5_Intron|ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000354661.4_Intron|ZNF561_ENST00000424629.1_Silent_p.L29L	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	98	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						TTTGATTCTTCAAAAAACCCT	0.323000													18	136					0	0	0.00188189	0	0
NACAP1	83955	broad.mit.edu	37	8	102381390	102381390	+	RNA	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:102381390C>T	ENST00000419462.1	+	0	802					NR_002182.1																						ACTGGGTCTTCAACAGGTTAC	0.458000													17	78					0	0	0.000958276	0	0
USP13	8975	broad.mit.edu	37	3	179501868	179501868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:179501868C>T	ENST00000263966.3	+	21	3002	c.2531C>T	c.(2530-2532)gCc>gTc	p.A844V	USP13_ENST00000496897.1_Missense_Mutation_p.A779V	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	844					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			AAAGTTTGTGCCTCAGAAAGG	0.408000													25	131					0	0	0.000878237	0	0
LCE2D	353141	broad.mit.edu	37	1	152636559	152636559	+	Splice_Site	SNP	A	A	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:152636559A>C	ENST00000368784.1	+	2	34		c.e2-1			NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D						keratinization					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTATCTTTTAGGTTGACTAA	0.408000													12	26					0	0	0.000978159	0	0
ZNF804B	219578	broad.mit.edu	37	7	88966268	88966268	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:88966268C>T	ENST00000333190.4	+	4	4581	c.3972C>T	c.(3970-3972)tgC>tgT	p.C1324C		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1324						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAGATTTTTGCCATCATTCTT	0.398000										HNSCC(36;0.09)			11	47					0	0	0.000978159	0	0
ATP12A	479	broad.mit.edu	37	13	25264590	25264590	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:25264590C>T	ENST00000218548.6	+	6	994	c.661C>T	c.(661-663)Ctg>Ttg	p.L221L	ATP12A_ENST00000381946.3_Silent_p.L221L	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	221					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)	CATCAGGGTGCTGTCTTCTCA	0.567000													11	32					0	0	0.00136819	0	0
GLI2	2736	broad.mit.edu	37	2	121747721	121747721	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:121747721G>A	ENST00000452319.1	+	14	4291	c.4231G>A	c.(4231-4233)Gaa>Aaa	p.E1411K	GLI2_ENST00000361492.4_Missense_Mutation_p.E1411K|GLI2_ENST00000314490.11_Intron			P10070	GLI2_HUMAN	GLI family zinc finger 2	1411					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GTCCAGTCAGGAAACAGCAGA	0.697000													5	20					0	0	0.000602214	0	0
NBEA	26960	broad.mit.edu	37	13	35716467	35716467	+	Silent	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:35716467T>C	ENST00000400445.3	+	18	2932	c.2398T>C	c.(2398-2400)Ttg>Ctg	p.L800L	NBEA_ENST00000379939.2_Silent_p.L800L|NBEA_ENST00000310336.4_Silent_p.L800L|NBEA_ENST00000540320.1_Silent_p.L800L	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	800						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AAGGCTGATGTTGCATACAAA	0.363000													9	188					0	0	0.00136819	0	0
IDUA	3425	broad.mit.edu	37	4	998089	998089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:998089G>A	ENST00000453894.1	+	11	2024	c.1936G>A	c.(1936-1938)Gac>Aac	p.D646N	IDUA_ENST00000514224.1_Missense_Mutation_p.D492N|IDUA_ENST00000247933.4_Missense_Mutation_p.D624N			P35475	IDUA_HUMAN	iduronidase, alpha-L-	624					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	TCGAGCCCTGGACTACTGGGC	0.657000													6	31					0	0	0.000157383	0	0
COL6A6	131873	broad.mit.edu	37	3	130345371	130345371	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:130345371C>T	ENST00000358511.6	+	24	4952	c.4921C>T	c.(4921-4923)Cct>Tct	p.P1641S	COL6A6_ENST00000453409.2_Missense_Mutation_p.P1641S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1641	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGTTGGCTTTCCTGGTCCTCG	0.418000													17	88					0	0	0.00121646	0	0
PCDHA6	56142	broad.mit.edu	37	5	140207721	140207721	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140207721C>T	ENST00000529310.1	+	1	159	c.45C>T	c.(43-45)ctC>ctT	p.L15L	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Silent_p.L15L|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.L15L(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGTCTGCTCCTCCCGCTTC	0.532000													11	102					0	0	0.000673444	0	0
KCNK5	8645	broad.mit.edu	37	6	39159208	39159208	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:39159208C>T	ENST00000359534.3	-	5	1296	c.958G>A	c.(958-960)Gag>Aag	p.E320K		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	320					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GGGCCCGTCTCCCCACCCCCG	0.622000													12	63					0	0	0.00136819	0	0
COLEC12	81035	broad.mit.edu	37	18	335059	335059	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:335059C>T	ENST00000400256.3	-	6	1706	c.1499G>A	c.(1498-1500)gGa>gAa	p.G500E		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	500	Collagen-like 2.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GCCTTTAGATCCTTTGCCGCC	0.701000													9	35					0	0	0.000442599	0	0
SUV420H1	51111	broad.mit.edu	37	11	67926500	67926500	+	Missense_Mutation	SNP	G	G	A	rs78084492		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:67926500G>A	ENST00000304363.4	-	11	1666	c.1313C>T	c.(1312-1314)cCa>cTa	p.P438L		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CAGTTTCTTTGGTACCCTGGA	0.388000													15	78					0	0	0.00074312	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011867	46011867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:46011867C>T	ENST00000400368.1	-	1	519	c.499G>A	c.(499-501)Ggg>Agg	p.G167R	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	167	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GAGGAAATCCCAGAGCAGACA	0.632000													8	125					0	0	0.000673444	0	0
OR8B2	26595	broad.mit.edu	37	11	124253113	124253113	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:124253113G>A	ENST00000375013.2	-	1	145	c.127C>T	c.(127-129)Ctt>Ttt	p.L43F		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ATCAAGCCAAGGTTGCCTACC	0.423000													6	58					0	0	0.00116845	0	0
DOPEY1	23033	broad.mit.edu	37	6	83863287	83863287	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:83863287C>T	ENST00000349129.2	+	31	6447	c.6187C>T	c.(6187-6189)Cct>Tct	p.P2063S	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.P2054S|DOPEY1_ENST00000237163.5_Missense_Mutation_p.P1993S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2063					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCGGGTTATTCCTTTACTTGT	0.303000													15	139					0	0	0.000422831	0	0
BAGE2	85319	broad.mit.edu	37	21	11038808	11038808	+	RNA	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:11038808G>A	ENST00000470054.1	-	0	1395									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGGAGTGACTGAGATGTAAGT	0.433000													11	224					0	0	0.00136819	0	0
CACNA1B	774	broad.mit.edu	37	9	140948323	140948323	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:140948323C>T	ENST00000277549.5	+	27	3990	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F	CACNA1B_ENST00000371357.1_Missense_Mutation_p.S1279F|CACNA1B_ENST00000371355.4_Missense_Mutation_p.S1279F|CACNA1B_ENST00000277551.2_Missense_Mutation_p.S1278F|CACNA1B_ENST00000371363.1_Missense_Mutation_p.S1278F|CACNA1B_ENST00000371372.1_Missense_Mutation_p.S1278F			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1278					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GTGGTGAACTCCCTGAAGAAT	0.517000													33	163					0	0	0.000680045	0	0
FXR1	8087	broad.mit.edu	37	3	180688101	180688101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:180688101G>A	ENST00000357559.4	+	15	1942	c.1558G>A	c.(1558-1560)Gga>Aga	p.G520R	FXR1_ENST00000445140.2_Missense_Mutation_p.G520R|FXR1_ENST00000491062.1_Missense_Mutation_p.G471R|FXR1_ENST00000480918.1_Missense_Mutation_p.G507R|FXR1_ENST00000305586.7_Missense_Mutation_p.G435R|FXR1_ENST00000468861.1_Missense_Mutation_p.G435R	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	520					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TCTGATGGATGGAATGACTGA	0.388000													7	92					0	0	0.000978159	0	0
GRIN2B	2904	broad.mit.edu	37	12	13761588	13761588	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:13761588G>A	ENST00000279593.3	-	9	2168	c.1959C>T	c.(1957-1959)ttC>ttT	p.F653F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	653					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTTGGATCATGAAGGCAGCTA	0.498000													5	25					0	0	0.000602214	0	0
CRYBB3	1417	broad.mit.edu	37	22	25597420	25597420	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:25597420C>T	ENST00000215855.2	+	2	137	c.57C>T	c.(55-57)gaC>gaT	p.D19D	CRYBB3_ENST00000404334.1_Silent_p.D19D	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	19	N-terminal arm.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						GCCATGGAGACCTTGGGGGCA	0.607000													9	62					0	0	0.000673444	0	0
ITK	3702	broad.mit.edu	37	5	156649894	156649894	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:156649894G>A	ENST00000422843.3	+	6	669	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	173	SH3.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGAACCTGAAGAAACTGTGGT	0.488000			T	SYK	peripheral T-cell lymphoma								20	226					0	0	0.00278032	0	0
NR5A1	2516	broad.mit.edu	37	9	127253497	127253497	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:127253497G>A	ENST00000373588.4	-	6	1197	c.1001C>T	c.(1000-1002)aCc>aTc	p.T334I		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	334	Important for dimerization.|Ligand-binding.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						GGCCACTGTGGTCAGCTCCAC	0.706000													4	23					0	0	0.000602214	0	0
SSPO	23145	broad.mit.edu	37	7	149498848	149498848	+	RNA	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:149498848C>T	ENST00000378016.2	+	0	7300							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TATGTGGCTCCCTTCTCTCCC	0.597000													6	22					0	0	0.00198382	0	0
OR2T6	254879	broad.mit.edu	37	1	248551607	248551607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:248551607G>A	ENST00000355728.2	+	1	698	c.698G>A	c.(697-699)gGg>gAg	p.G233E		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCGGCTGAAGGGAGGAAGAAG	0.512000													16	61					0	0	0.000422831	0	0
TMEM176B	28959	broad.mit.edu	37	7	150489176	150489176	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:150489176G>A	ENST00000447204.2	-	6	1060	c.688C>T	c.(688-690)Cga>Tga	p.R230*	TMEM176B_ENST00000450753.2_Nonsense_Mutation_p.R193*|TMEM176B_ENST00000326442.5_Nonsense_Mutation_p.R230*|TMEM176B_ENST00000434545.1_Nonsense_Mutation_p.R230*|TMEM176B_ENST00000492607.1_Nonsense_Mutation_p.R230*|TMEM176B_ENST00000429904.2_Nonsense_Mutation_p.R230*	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	230					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACAAGTTTCGAAGACCTACT	0.572000													8	26					0	0	0.000274275	0	0
GRIK1	2897	broad.mit.edu	37	21	30949498	30949498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:30949498G>A	ENST00000399914.1	-	13	2392	c.1871C>T	c.(1870-1872)tCa>tTa	p.S624L	GRIK1_ENST00000309434.7_Missense_Mutation_p.S641L|GRIK1_ENST00000327783.4_Missense_Mutation_p.S639L|GRIK1_ENST00000535441.1_Missense_Mutation_p.S641L|GRIK1_ENST00000389125.3_Missense_Mutation_p.S624L|GRIK1_ENST00000399913.1_Missense_Mutation_p.S639L|GRIK1_ENST00000399907.1_Missense_Mutation_p.S639L|GRIK1_ENST00000399909.1_Missense_Mutation_p.S624L|GRIK1_ENST00000389124.2_Missense_Mutation_p.S639L			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	639					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CATCAGCTCTGATCCTGTGAT	0.443000													6	56					0	0	0.000157383	0	0
MOG	4340	broad.mit.edu	37	6	29638538	29638538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:29638538G>A	ENST00000376894.4	+	7	888	c.770G>A	c.(769-771)aGc>aAc	p.S257N	MOG_ENST00000396704.3_Intron|MOG_ENST00000376888.2_Intron|MOG_ENST00000376917.3_Intron|MOG_ENST00000376898.3_Intron|MOG_ENST00000494692.1_Intron|MOG_ENST00000416766.2_Intron|MOG_ENST00000376902.3_Intron|MOG_ENST00000533330.2_Intron|MOG_ENST00000490427.1_Intron|MOG_ENST00000431798.2_Intron|MOG_ENST00000483013.1_Intron|MOG_ENST00000396701.2_Intron|MOG_ENST00000376891.4_Intron			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	0					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						AGAATAAAAAGCCAGGAAAGG	0.453000													5	35					0	0	0.00116845	0	0
IGLV5-45	28781	broad.mit.edu	37	22	22730614	22730614	+	RNA	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:22730614G>A	ENST00000390296.2	+	0	137																											TGGAGCATCAGCCAGTCTCAC	0.547000													14	81					0	0	0.00121646	0	0
CSMD1	64478	broad.mit.edu	37	8	2910116	2910116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:2910116C>T	ENST00000520002.1	-	51	8086	c.7531G>A	c.(7531-7533)Gag>Aag	p.E2511K	CSMD1_ENST00000602723.1_Missense_Mutation_p.E2511K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E2510K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E2510K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E2511K|CSMD1_ENST00000602557.1_Missense_Mutation_p.E2511K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2511	Sushi 15.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAAGTGAACTCGTTCCCGGTA	0.438000													6	16					0	0	0.00198382	0	0
PLG	5340	broad.mit.edu	37	6	161152219	161152219	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:161152219C>T	ENST00000308192.9	+	11	1456	c.1393C>T	c.(1393-1395)Ccg>Tcg	p.P465S		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	465					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGTAGCACCTCCGCCTGTTGT	0.512000													10	46					0	0	0.00136819	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409227	56409227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:56409227G>A	ENST00000544374.1	-	1	720	c.692C>T	c.(691-693)gCc>gTc	p.A231V	OR5AP2_ENST00000302981.1_Missense_Mutation_p.A230V			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A230V(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CTTCAAGACGGCAATGAAGAT	0.448000													6	117					0	0	0.00198382	0	0
OR5L1	219437	broad.mit.edu	37	11	55579528	55579528	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:55579528G>A	ENST00000333973.2	+	1	675	c.586G>A	c.(586-588)Gag>Aag	p.E196K		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CACTGTGAATGAGACACTGCT	0.443000													9	98					0	0	0.000442599	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617786	111617786	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:111617786G>A	ENST00000374667.3	-	1	1453	c.425C>T	c.(424-426)cCc>cTc	p.P142L		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	142						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTGCTCCTCGGGGAGGATCTT	0.627000													6	27					0	0	0.00198382	0	0
FAM13C	220965	broad.mit.edu	37	10	61014160	61014160	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:61014160C>T	ENST00000373867.3	-	12	1496	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q	FAM13C_ENST00000435852.2_Missense_Mutation_p.R427Q|FAM13C_ENST00000442566.3_Missense_Mutation_p.R448Q|FAM13C_ENST00000468840.2_Missense_Mutation_p.R344Q|FAM13C_ENST00000422313.2_Missense_Mutation_p.R427Q|FAM13C_ENST00000373868.2_Missense_Mutation_p.R427Q|FAM13C_ENST00000277705.6_Missense_Mutation_p.R448Q|FAM13C_ENST00000419214.2_Missense_Mutation_p.R329Q	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	427										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AATTCTGTATCGGTCATAAAG	0.353000													11	107					0	0	0.00136819	0	0
OR8J1	219477	broad.mit.edu	37	11	56128078	56128078	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:56128078C>T	ENST00000303039.3	+	1	388	c.356C>T	c.(355-357)gCc>gTc	p.A119V		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A119V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GCTTTGATGGCCTATGACCGC	0.488000													6	68					0	0	0.00116845	0	0
SOX3	6658	broad.mit.edu	37	X	139586740	139586740	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:139586740G>A	ENST00000370536.2	-	1	485	c.486C>T	c.(484-486)ccC>ccT	p.P162P		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	162					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					TGTGCATCTTGGGGTTCTCCA	0.612000													5	25					0	0	0.00116845	0	0
VPS13A	23230	broad.mit.edu	37	9	79985331	79985331	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:79985331G>A	ENST00000360280.3	+	65	9004	c.8743_splice	c.e65-1	p.G2915_splice	VPS13A_ENST00000357409.5_Splice_Site_p.G2915_splice|VPS13A_ENST00000376634.4_Splice_Site_p.G2915_splice|VPS13A_ENST00000376636.3_Splice_Site_p.G2876_splice	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2915					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTCTGTCAGGTGGATTGGCT	0.428000													10	41					0	0	0.000673444	0	0
TRPS1	7227	broad.mit.edu	37	8	116599617	116599617	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:116599617C>T	ENST00000395715.3	-	5	2888	c.2311G>A	c.(2311-2313)Gag>Aag	p.E771K	TRPS1_ENST00000519674.1_Missense_Mutation_p.E758K|TRPS1_ENST00000519076.1_Missense_Mutation_p.E512K|TRPS1_ENST00000220888.5_Missense_Mutation_p.E758K|TRPS1_ENST00000520276.1_Missense_Mutation_p.E762K	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	758	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GAAACTGGCTCTCCCATTTTA	0.493000									Langer-Giedion syndrome				15	190					0	0	0.000566183	0	0
BRAF	673	broad.mit.edu	37	7	140439656	140439656	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:140439656C>T	ENST00000288602.6	-	17	2143	c.2083G>A	c.(2083-2085)Gag>Aag	p.E695K		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	695	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TTGAGGCACTCTGCCATTAAT	0.408000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				18	85					0	0	0.00121646	0	0
BDKRB1	623	broad.mit.edu	37	14	96731069	96731069	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:96731069C>T	ENST00000216629.6	+	3	1656	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F	BDKRB1_ENST00000553356.1_Intron|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	350					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TCCAACTTTTCTGGCGGAATT	0.388000													9	122					0	0	0.000442599	0	0
RAI2	10742	broad.mit.edu	37	X	17819704	17819704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:17819704C>T	ENST00000545871.1	-	3	887	c.427G>A	c.(427-429)Gag>Aag	p.E143K	RAI2_ENST00000360011.1_Missense_Mutation_p.E143K|RAI2_ENST00000331511.1_Missense_Mutation_p.E143K|RAI2_ENST00000451717.1_Missense_Mutation_p.E143K|RAI2_ENST00000415486.3_Missense_Mutation_p.E93K	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	143					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					CATGGGGCCTCCTGCGGCAGG	0.657000													17	27					0	0	0.00121646	0	0
VWA5A	4013	broad.mit.edu	37	11	124016019	124016019	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:124016019G>A	ENST00000456829.2	+	18	2481	c.2230G>A	c.(2230-2232)Gaa>Aaa	p.E744K	VWA5A_ENST00000360334.4_3'UTR|VWA5A_ENST00000392748.1_Missense_Mutation_p.E744K	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	744										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CTTGAAGTGTGAATGGGAGCT	0.582000													9	72					0	0	0.000274275	0	0
PTPRK	5796	broad.mit.edu	37	6	128718786	128718786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:128718786C>T	ENST00000368227.3	-	2	514	c.148G>A	c.(148-150)Gat>Aat	p.D50N	PTPRK_ENST00000368226.4_Missense_Mutation_p.D50N|PTPRK_ENST00000368210.3_Missense_Mutation_p.D50N|PTPRK_ENST00000532331.1_Missense_Mutation_p.D50N|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Missense_Mutation_p.D50N|PTPRK_ENST00000525459.1_Missense_Mutation_p.D50N|PTPRK_ENST00000368207.3_Missense_Mutation_p.D50N|PTPRK_ENST00000368213.5_Missense_Mutation_p.D50N			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	50	MAM.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCATACAGATCCTGGTGGTAA	0.443000													6	131					0	0	0.000157383	0	0
PDE1C	5137	broad.mit.edu	37	7	32209569	32209569	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:32209569C>T	ENST00000396193.1	-	3	730		c.e3-1			NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa						activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GACTTAGACCCTGAGGCATGG	0.522000													6	73					0	0	0.000157383	0	0
ADAM29	11086	broad.mit.edu	37	4	175898763	175898763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:175898763G>A	ENST00000359240.3	+	5	2757	c.2087G>A	c.(2086-2088)cGa>cAa	p.R696Q	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.R696Q|ADAM29_ENST00000514159.1_Missense_Mutation_p.R696Q|ADAM29_ENST00000445694.1_Missense_Mutation_p.R696Q	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	696					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.R696Q(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGTCTTTATCGACTTTGTAAA	0.343000													7	30					0	0	0.000274275	0	0
CCDC141	285025	broad.mit.edu	37	2	179733924	179733924	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:179733924G>A	ENST00000420890.2	-	15	2431	c.2314C>T	c.(2314-2316)Cat>Tat	p.H772Y	CCDC141_ENST00000295723.5_Missense_Mutation_p.H197Y	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	197							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGTTTTTGATGGAAGTGAATA	0.423000													13	91					0	0	0.00185496	0	0
CSF2RB	1439	broad.mit.edu	37	22	37326418	37326418	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:37326418G>A	ENST00000262825.5	+	7	937	c.718_splice	c.e7-1	p.G240_splice	CSF2RB_ENST00000406230.1_Splice_Site_p.G240_splice|CSF2RB_ENST00000403662.3_Splice_Site_p.G240_splice|CSF2RB_ENST00000536485.1_Splice_Site_p.G181_splice	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	240					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCAACCCAGGGGATGAGGCCC	0.607000													8	113					0	0	0.000274275	0	0
NBEA	26960	broad.mit.edu	37	13	36167502	36167502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:36167502G>A	ENST00000400445.3	+	47	7748	c.7214G>A	c.(7213-7215)gGa>gAa	p.G2405E	NBEA_ENST00000379939.2_Missense_Mutation_p.G2402E|NBEA_ENST00000310336.4_Missense_Mutation_p.G2405E|NBEA_ENST00000537702.1_Missense_Mutation_p.G198E|NBEA_ENST00000379922.3_5'UTR|NBEA_ENST00000540320.1_Missense_Mutation_p.G2405E	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2405	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCAAATGATGGAAAATTTGAT	0.398000													5	63					0	0	0.00116845	0	0
TRBV2	28620	broad.mit.edu	37	7	142000791	142000791	+	RNA	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:142000791G>A	ENST00000455382.2	+	0	45																											CCTGAGCTAGGAAAGGCCTCA	0.527000													15	65					0	0	0.000422831	0	0
C1orf87	127795	broad.mit.edu	37	1	60456474	60456474	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:60456474G>A	ENST00000371201.3	-	12	1619	c.1512C>T	c.(1510-1512)ctC>ctT	p.L504L	C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000450089.2_Silent_p.L275L|C1orf87_ENST00000395552.1_Silent_p.L138L	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	504							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AGTTGTGAATGAGGCGTCTGG	0.463000													10	184					0	0	0.000978159	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23049378	23049378	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:23049378C>T	ENST00000221132.3	-	10	1300	c.1236G>A	c.(1234-1236)ctG>ctA	p.L412L		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	412	Death.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		CCCATTTCATCAGCATTGCAT	0.537000													11	96					0	0	0.000422831	0	0
ASTN2	23245	broad.mit.edu	37	9	119380722	119380722	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:119380722G>A	ENST00000313400.4	-	19	3336	c.3236C>T	c.(3235-3237)tCc>tTc	p.S1079F	ASTN2_ENST00000358637.4_Missense_Mutation_p.S131F|ASTN2_ENST00000361477.3_Missense_Mutation_p.S131F|ASTN2_ENST00000361209.2_Missense_Mutation_p.S1028F|ASTN2_ENST00000341734.4_Missense_Mutation_p.S131F|ASTN2_ENST00000288520.5_Missense_Mutation_p.S180F|ASTN2_ENST00000373996.3_Missense_Mutation_p.S1075F			O75129	ASTN2_HUMAN	astrotactin 2	1079	Fibronectin type-III.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CACAGTACTGGAGGGCTCCAC	0.522000													7	28					0	0	0.000274275	0	0
FBXO15	201456	broad.mit.edu	37	18	71790672	71790672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:71790672G>A	ENST00000269500.5	-	8	1176	c.841C>T	c.(841-843)Cat>Tat	p.H281Y	FBXO15_ENST00000419743.2_Missense_Mutation_p.H357Y	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	281										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		AGATCAACATGGAGTTGGTAG	0.438000													7	50					0	0	0.000157383	0	0
ZNF426	79088	broad.mit.edu	37	19	9640053	9640053	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9640053G>A	ENST00000593003.1	-	6	1031	c.554C>T	c.(553-555)tCa>tTa	p.S185L	ZNF426_ENST00000589289.1_3'UTR|ZNF426_ENST00000535489.1_Missense_Mutation_p.S223L|ZNF426_ENST00000253115.2_Missense_Mutation_p.S223L			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ACATTCAAATGACTTTTCTTG	0.373000													33	152					0	0	0.00222228	0	0
UBE2I	7329	broad.mit.edu	37	16	1364364	1364364	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:1364364C>T	ENST00000355803.4	+	3	688	c.137C>T	c.(136-138)cCa>cTa	p.P46L	UBE2I_ENST00000403747.2_Missense_Mutation_p.P46L|UBE2I_ENST00000566587.1_Missense_Mutation_p.P46L|UBE2I_ENST00000397514.3_Missense_Mutation_p.P46L|UBE2I_ENST00000325437.5_Missense_Mutation_p.P46L|UBE2I_ENST00000402301.1_Missense_Mutation_p.P46L|UBE2I_ENST00000406620.1_Missense_Mutation_p.P46L|UBE2I_ENST00000397515.2_Missense_Mutation_p.P46L	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	46					cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				TGCGCCATTCCAGGAAAGAAA	0.572000													5	32					0	0	0.00116845	0	0
BIRC6	57448	broad.mit.edu	37	2	32743456	32743456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:32743456C>T	ENST00000421745.2	+	56	11619	c.11485C>T	c.(11485-11487)Cca>Tca	p.P3829S		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3829					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCTTCAGTCTCCATGTCCAGT	0.373000													8	45					0	0	0.000274275	0	0
DENND2C	163259	broad.mit.edu	37	1	115168137	115168137	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:115168137G>A	ENST00000393274.1	-	4	1094	c.469C>T	c.(469-471)Ccc>Tcc	p.P157S	DENND2C_ENST00000393277.1_Missense_Mutation_p.P157S|DENND2C_ENST00000393276.3_Missense_Mutation_p.P157S	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	157										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTATCTGGGGGAAGTGCTTCT	0.368000													9	82					0	0	0.000274275	0	0
ERBB4	2066	broad.mit.edu	37	2	212252714	212252714	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:212252714C>T	ENST00000342788.4	-	26	3449	c.3139G>A	c.(3139-3141)Gaa>Aaa	p.E1047K	ERBB4_ENST00000436443.1_Intron|ERBB4_ENST00000402597.1_Missense_Mutation_p.E1037K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1047					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TGTCCAATTTCACTCTAATAG	0.368000										TSP Lung(8;0.080)			14	126					0	0	0.000308642	0	0
PTCHD2	57540	broad.mit.edu	37	1	11596417	11596417	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:11596417G>A	ENST00000294484.6	+	21	3991	c.3853G>A	c.(3853-3855)Gcc>Acc	p.A1285T	PTCHD2_ENST00000304391.6_Missense_Mutation_p.G171D|PTCHD2_ENST00000389575.3_Missense_Mutation_p.A1285T	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1285					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TACGCTGGAGGCCGTGCGGCA	0.682000													8	21					0	0	0.000157383	0	0
TTN	7273	broad.mit.edu	37	2	179592939	179592939	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:179592939G>A	ENST00000589042.1	-	67	19836	c.19612C>T	c.(19612-19614)Ctg>Ttg	p.L6538L	TTN_ENST00000591111.1_Silent_p.L6221L|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.L5294L|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6221	Ig-like 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAACTTCCAGAGACACAGAT	0.393000													4	33					0	0	0.00116845	0	0
MAP3K5	4217	broad.mit.edu	37	6	136888786	136888786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:136888786C>T	ENST00000359015.4	-	26	4104	c.3744G>A	c.(3742-3744)atG>atA	p.M1248I	MAP3K5_ENST00000355845.4_Missense_Mutation_p.M495I	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1248					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTTCTATTTTCATCCTTCCAA	0.428000													6	38					0	0	0.000157383	0	0
PHLDB2	90102	broad.mit.edu	37	3	111604089	111604089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:111604089G>A	ENST00000431670.2	+	2	1576	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	PHLDB2_ENST00000393923.3_Missense_Mutation_p.E416K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E389K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E389K|PHLDB2_ENST00000478922.1_Missense_Mutation_p.E389K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E389K|PHLDB2_ENST00000477695.1_Missense_Mutation_p.E389K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	389						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGGATCTGTGGAATTTGATGA	0.512000													15	46					0	0	0.00244969	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017381	93017381	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:93017381C>T	ENST00000523629.1	-	6	1157	c.703G>A	c.(703-705)Gat>Aat	p.D235N	RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D198N|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D208N|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D235N|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D246N|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D208N|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D198N|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.D198N|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D198N	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	235					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCGTTCACATCGAGAAGCAGC	0.552000													21	74					0	0	0.00047179	0	0
NLRP1	22861	broad.mit.edu	37	17	5418809	5418809	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:5418809G>A	ENST00000345221.3	-	15	4508	c.3954C>T	c.(3952-3954)atC>atT	p.I1318I	NLRP1_ENST00000572272.1_Silent_p.I1362I|NLRP1_ENST00000577119.1_Silent_p.I1288I|NLRP1_ENST00000262467.5_Intron|NLRP1_ENST00000269280.4_Silent_p.I1318I|NLRP1_ENST00000354411.3_Silent_p.I1332I	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1362					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGGCTGGAGGGATCAGAGTAG	0.512000													8	43					0	0	0.000442599	0	0
KLHL1	57626	broad.mit.edu	37	13	70456507	70456507	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:70456507A>T	ENST00000377844.4	-	5	1894	c.1135T>A	c.(1135-1137)Ttg>Atg	p.L379M	KLHL1_ENST00000545028.1_Missense_Mutation_p.L186M	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	379					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CACATCATCAATGCATGGAAG	0.438000													13	59					0	0	0.00136819	0	0
TRPC7	57113	broad.mit.edu	37	5	135587384	135587384	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:135587384G>C	ENST00000513104.1	-	6	1814	c.1532C>G	c.(1531-1533)aCg>aGg	p.T511R	TRPC7_ENST00000426057.2_Missense_Mutation_p.T395R|TRPC7_ENST00000355180.3_Missense_Mutation_p.T450R	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	511					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTGTGCAGCGTGTCGTCCTG	0.602000													4	26					0	0	0.000602214	0	0
COL1A1	1277	broad.mit.edu	37	17	48266785	48266785	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:48266785G>A	ENST00000225964.5	-	39	2900	c.2782C>T	c.(2782-2784)Cct>Tct	p.P928S		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	928	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GCAGGGCCAGGGGGACCAGGG	0.652000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						4	43					0	0	0.000602214	0	0
SLC12A3	6559	broad.mit.edu	37	16	56924235	56924235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:56924235G>A	ENST00000438926.2	+	19	2364	c.2335G>A	c.(2335-2337)Gga>Aga	p.G779R	SLC12A3_ENST00000262502.5_Missense_Mutation_p.G778R|SLC12A3_ENST00000566786.1_Missense_Mutation_p.G778R|SLC12A3_ENST00000563236.1_Missense_Mutation_p.G779R	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	779					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GATGCGGGAGGGACTCAACGT	0.517000													5	27					0	0	0.00116845	0	0
FCGBP	8857	broad.mit.edu	37	19	40424198	40424198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:40424198C>T	ENST00000221347.6	-	4	2012	c.2005G>A	c.(2005-2007)Gag>Aag	p.E669K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	669	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGGTCGCCCTCATAGTGTTGG	0.607000													18	150					0	0	0.00152264	0	0
DNER	92737	broad.mit.edu	37	2	230231825	230231825	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:230231825C>T	ENST00000341772.4	-	12	2000	c.1866G>A	c.(1864-1866)tgG>tgA	p.W622*		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	622					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GCCCGGACTTCCATTGGAGGT	0.483000													6	28					0	0	0.000157383	0	0
GDF10	2662	broad.mit.edu	37	10	48426627	48426627	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:48426627C>T	ENST00000224605.2	-	3	1645	c.1380G>A	c.(1378-1380)cgG>cgA	p.R460R		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	460					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GAACCACATTCCGATTCTCAT	0.587000											OREG0020165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	80					0	0	0.000442599	0	0
SYNE1	23345	broad.mit.edu	37	6	152457867	152457867	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:152457867C>T	ENST00000367255.5	-	141	26146	c.25545G>A	c.(25543-25545)aaG>aaA	p.K8515K	SYNE1_ENST00000356820.4_Silent_p.K3039K|SYNE1_ENST00000354674.4_Silent_p.K693K|SYNE1_ENST00000265368.4_Silent_p.K8515K|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Silent_p.K8467K|SYNE1_ENST00000448038.1_Silent_p.K8467K|SYNE1_ENST00000341594.5_Silent_p.K8127K|SYNE1_ENST00000539504.1_Silent_p.K670K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8515					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCCGGCTCTCCTTGCTGTCAG	0.597000										HNSCC(10;0.0054)			9	55					0	0	0.000442599	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834439	125834439	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:125834439C>T	ENST00000299308.3	+	2	502	c.494C>T	c.(493-495)cCt>cTt	p.P165L	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	165						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTTGCTTTCCCTGAGGCCAGG	0.582000													6	71					0	0	0.00198382	0	0
CRIM1	51232	broad.mit.edu	37	2	36704073	36704073	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:36704073G>A	ENST00000280527.2	+	6	1400	c.1033G>A	c.(1033-1035)Gat>Aat	p.D345N		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	345	VWFC 1.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GGAATATTATGATGGAGACAT	0.433000													8	136					0	0	0.000442599	0	0
CTSG	1511	broad.mit.edu	37	14	25042969	25042969	+	Silent	SNP	G	G	A	rs147260851	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:25042969G>A	ENST00000216336.2	-	5	678	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	214	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CATAGGAGACGATGCCGTGGG	0.557000													7	73					0	0	0.000157383	0	0
MECOM	2122	broad.mit.edu	37	3	168834324	168834324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:168834324G>A	ENST00000464456.1	-	7	1972	c.772C>T	c.(772-774)Cct>Tct	p.P258S	MECOM_ENST00000433243.2_Missense_Mutation_p.P259S|MECOM_ENST00000494292.1_Missense_Mutation_p.P446S|MECOM_ENST00000264674.3_Missense_Mutation_p.P323S|MECOM_ENST00000392736.3_Missense_Mutation_p.P258S|MECOM_ENST00000472280.1_Missense_Mutation_p.P259S|MECOM_ENST00000468789.1_Missense_Mutation_p.P258S|MECOM_ENST00000460814.1_Missense_Mutation_p.P258S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GGGGTTCCAGGAAGTGAAATG	0.473000													12	36					0	0	0.00244969	0	0
MT1H	4496	broad.mit.edu	37	16	56703804	56703804	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:56703804C>T	ENST00000569155.1	+	1	53	c.8C>T	c.(7-9)cCc>cTc	p.P3L	MT1H_ENST00000332374.4_Missense_Mutation_p.P3L			P80294	MT1H_HUMAN	metallothionein 1H	3	Beta.						metal ion binding|protein binding			lung(5)	5						GCAATGGACCCCAACTGCTCC	0.587000													8	65					0	0	0.000978159	0	0
C2orf71	388939	broad.mit.edu	37	2	29293946	29293946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:29293946G>A	ENST00000331664.5	-	1	3181	c.3182C>T	c.(3181-3183)cCc>cTc	p.P1061L		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1061	Pro-rich.				response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGCACTCTCGGGGGGAGGGTT	0.667000													6	49					0	0	0.00198382	0	0
CYP4F3	4051	broad.mit.edu	37	19	15758033	15758033	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:15758033G>A	ENST00000221307.7	+	5	472	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	CYP4F3_ENST00000585846.1_Missense_Mutation_p.E142K|CYP4F3_ENST00000586182.1_Missense_Mutation_p.E142K|CYP4F3_ENST00000591058.1_Missense_Mutation_p.E142K	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	142					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GAGTGCTGGTGAAAAGTGGAG	0.577000													11	43					0	0	0.000978159	0	0
EPB41L2	2037	broad.mit.edu	37	6	131277193	131277193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:131277193C>T	ENST00000337057.3	-	2	614	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	EPB41L2_ENST00000392427.3_Missense_Mutation_p.E145K|EPB41L2_ENST00000527659.1_Missense_Mutation_p.E145K|EPB41L2_ENST00000527411.1_Missense_Mutation_p.E145K|EPB41L2_ENST00000525271.1_Missense_Mutation_p.E145K|EPB41L2_ENST00000445890.2_Missense_Mutation_p.E145K|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000530481.1_Missense_Mutation_p.E145K|EPB41L2_ENST00000529208.1_Missense_Mutation_p.E145K|EPB41L2_ENST00000368128.2_Missense_Mutation_p.E145K|EPB41L2_ENST00000528282.1_Missense_Mutation_p.E145K|EPB41L2_ENST00000525193.1_Missense_Mutation_p.E145K	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	145					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GGTTTTTCTTCCTTGACTTCA	0.423000													51	230					0	0	0.000781405	0	0
THSD7B	80731	broad.mit.edu	37	2	138378199	138378199	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:138378199G>A	ENST00000409968.1	+	20	3880	c.3702G>A	c.(3700-3702)caG>caA	p.Q1234Q	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.Q1237Q|THSD7B_ENST00000413152.2_Silent_p.Q1206Q					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGAAGCCCCAGAGAATGAGCA	0.463000													19	72					0	0	0.00229938	0	0
RNF207	388591	broad.mit.edu	37	1	6273140	6273140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:6273140C>T	ENST00000377939.4	+	16	1676	c.1549C>T	c.(1549-1551)Ctt>Ttt	p.L517F	RNF207_ENST00000377948.2_3'UTR|RNF207_ENST00000483336.1_3'UTR	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	517						intracellular	zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GCTCCATGACCTTCTCCAGCT	0.562000													14	72					0	0	0.000566183	0	0
DIAPH2	1730	broad.mit.edu	37	X	96213036	96213036	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:96213036C>T	ENST00000324765.8	+	16	2171	c.1824C>T	c.(1822-1824)ccC>ccT	p.P608P	DIAPH2_ENST00000373049.4_Silent_p.P608P|DIAPH2_ENST00000373061.3_Silent_p.P608P|DIAPH2_ENST00000373054.4_Silent_p.P604P|DIAPH2_ENST00000355827.4_Silent_p.P608P			O60879	DIAP2_HUMAN	diaphanous-related formin 2	608	FH1.|Poly-Pro.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CACCACCACCCCTTGGAGGAG	0.493000													6	25					0	0	0.00116845	0	0
FBXO24	26261	broad.mit.edu	37	7	100198450	100198450	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:100198450G>A	ENST00000241071.6	+	10	1993	c.1671G>A	c.(1669-1671)tgG>tgA	p.W557*	PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000427939.2_Nonsense_Mutation_p.W595*|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_3'UTR|FBXO24_ENST00000468962.1_Nonsense_Mutation_p.W545*	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	557						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACTTCTTCTGGGAGGCCCTGG	0.617000													8	40					0	0	0.000442599	0	0
CLCA4	22802	broad.mit.edu	37	1	87031544	87031544	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:87031544A>G	ENST00000370563.3	+	6	837	c.795A>G	c.(793-795)atA>atG	p.I265M	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	265						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TACAAAACATAAAGTGCAATT	0.333000													6	47					0	0	0.00116845	0	0
CCDC88C	440193	broad.mit.edu	37	14	91773466	91773466	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:91773466C>T	ENST00000389857.6	-	18	3197	c.3111G>A	c.(3109-3111)ggG>ggA	p.G1037G		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1037					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGGCCTCCTTCCCCTGGTGAC	0.632000													4	22					0	0	0.00024832	0	0
CYP2D6	1565	broad.mit.edu	37	22	42523475	42523475	+	Missense_Mutation	SNP	C	C	T	rs75386357	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:42523475C>T	ENST00000360608.5	-	7	1261	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K	NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000359033.4_Missense_Mutation_p.E332K|CYP2D6_ENST00000389970.3_Missense_Mutation_p.E383K|NDUFA6-AS1_ENST00000439129.1_RNA	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	383							electron carrier activity|heme binding|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			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCCTGTACTTCGATGTCACGG	0.617000													5	19					0	0	0.00198382	0	0
CCND2	894	broad.mit.edu	37	12	4398042	4398042	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:4398042C>T	ENST00000261254.3	+	4	875	c.606C>T	c.(604-606)atC>atT	p.I202I		NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	202					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			CGTCGATGATCGCAACTGGAA	0.542000			T	IGL@	"""NHL,CLL"""								30	138					0	0	0.000814825	0	0
SACS	26278	broad.mit.edu	37	13	23913632	23913632	+	Silent	SNP	A	A	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:23913632A>C	ENST00000382298.3	-	10	4971	c.4383T>G	c.(4381-4383)acT>acG	p.T1461T	SACS_ENST00000382292.3_Silent_p.T1461T|SACS_ENST00000402364.1_Silent_p.T711T	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1461					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAATTCTTACAGTAAGTGGCT	0.363000													7	100					0	0	0.00198382	0	0
NTSR1	4923	broad.mit.edu	37	20	61341151	61341151	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:61341151C>T	ENST00000370501.3	+	1	963	c.592C>T	c.(592-594)Ctg>Ttg	p.L198L		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	198						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CGCCTCGGCCCTGCTGGCGGT	0.672000													11	39					0	0	0.000978159	0	0
KCND3	3752	broad.mit.edu	37	1	112319760	112319760	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:112319760T>C	ENST00000369697.1	-	5	1666	c.1597A>G	c.(1597-1599)Aag>Gag	p.K533E	KCND3_ENST00000302127.4_Missense_Mutation_p.K533E|KCND3_ENST00000315987.2_Missense_Mutation_p.K552E			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	552						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GTGGTCTTCTTACTACGACGG	0.572000													7	47					0	0	0.000274275	0	0
ANK3	288	broad.mit.edu	37	10	61829367	61829367	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:61829367C>T	ENST00000280772.1	-	37	11463	c.11272G>A	c.(11272-11274)Gaa>Aaa	p.E3758K	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3758					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTTATAGTTTCATTTTCTAAT	0.378000													15	127					0	0	0.000566183	0	0
PLA1A	51365	broad.mit.edu	37	3	119325719	119325719	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:119325719C>T	ENST00000273371.4	+	2	244	c.172C>T	c.(172-174)Cct>Tct	p.P58S	PLA1A_ENST00000494440.1_Missense_Mutation_p.P42S|PLA1A_ENST00000488919.1_Intron|PLA1A_ENST00000495992.1_Missense_Mutation_p.P58S	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	58					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTCTTTGTCCCTTCGAATCC	0.507000													16	161					0	0	0.000422831	0	0
SLC4A8	9498	broad.mit.edu	37	12	51853762	51853762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:51853762C>T	ENST00000453097.2	+	8	1100	c.883C>T	c.(883-885)Cct>Tct	p.P295S	SLC4A8_ENST00000514353.3_Missense_Mutation_p.P242S|SLC4A8_ENST00000358657.3_Missense_Mutation_p.P322S|SLC4A8_ENST00000394856.1_Missense_Mutation_p.P242S|SLC4A8_ENST00000535225.2_Missense_Mutation_p.P242S	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	295					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GAAAAAAATTCCTACTGGGGC	0.423000													20	118					0	0	0.00188189	0	0
TLN2	83660	broad.mit.edu	37	15	62994294	62994294	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:62994294C>T	ENST00000561311.1	+	17	2030	c.1800C>T	c.(1798-1800)ctC>ctT	p.L600L	TLN2_ENST00000306829.6_Silent_p.L600L			Q9Y4G6	TLN2_HUMAN	talin 2	600					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGGCCGCCCTCATGGATGATG	0.577000													5	29					0	0	0.000157383	0	0
LAMA2	3908	broad.mit.edu	37	6	129465092	129465092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:129465092C>T	ENST00000421865.2	+	5	735	c.686C>T	c.(685-687)tCt>tTt	p.S229F		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	229	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.S229Y(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GATGATCCTTCTCCAGAACTG	0.373000													6	26					0	0	0.00116845	0	0
MID2	11043	broad.mit.edu	37	X	107084244	107084244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:107084244C>T	ENST00000262843.6	+	2	897	c.349C>T	c.(349-351)Cct>Tct	p.P117S	MID2_ENST00000443968.2_Missense_Mutation_p.P117S	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	117						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GCCCAATTCCCCTAGTGAGAG	0.572000													9	16					0	0	0.000274275	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269236	150269236	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:150269236C>T	ENST00000255945.2	+	3	253	c.78C>T	c.(76-78)ccC>ccT	p.P26P	GIMAP4_ENST00000461940.1_Silent_p.P40P|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	26							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCAAGAGCCCAGAAATTCCC	0.468000													11	63					0	0	0.000978159	0	0
SLC6A19	340024	broad.mit.edu	37	5	1213610	1213610	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:1213610C>T	ENST00000304460.10	+	5	752	c.696C>T	c.(694-696)gtC>gtT	p.V232V		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	232					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGCCCTATGTCGTCCTGACCA	0.662000													8	30					0	0	0.000673444	0	0
PELI3	246330	broad.mit.edu	37	11	66241261	66241261	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:66241261C>T	ENST00000349459.6	+	6	917	c.633C>T	c.(631-633)acC>acT	p.T211T	CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000524466.1_Silent_p.T235T|PELI3_ENST00000531856.1_Intron|PELI3_ENST00000320740.7_Silent_p.T235T	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	235						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GACTGACCACCAATGGAGTCC	0.637000													5	35					0	0	0.000602214	0	0
TTC37	9652	broad.mit.edu	37	5	94814122	94814122	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:94814122G>A	ENST00000358746.2	-	40	4535	c.4237C>T	c.(4237-4239)Caa>Taa	p.Q1413*		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1413							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATCATTCCTTGGGATTGATAC	0.438000													6	39					0	0	0.00116845	0	0
IQCA1	79781	broad.mit.edu	37	2	237276926	237276926	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:237276926C>T	ENST00000409907.3	-	14	1854	c.1580G>A	c.(1579-1581)gGg>gAg	p.G527E	IQCA1_ENST00000309507.5_Missense_Mutation_p.G524E|IQCA1_ENST00000431676.2_Missense_Mutation_p.G486E|RP11-785G17.1_ENST00000605740.1_RNA			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	527							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						AAGAGTAGTCCCCAGGTAGCT	0.483000													3	7					0	0	0.00024832	0	0
MAP3K3	4215	broad.mit.edu	37	17	61759136	61759136	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:61759136C>T	ENST00000361357.3	+	8	924	c.606C>T	c.(604-606)aaC>aaT	p.N202N	MAP3K3_ENST00000579585.1_Silent_p.N202N|MAP3K3_ENST00000577395.1_Silent_p.N171N|MAP3K3_ENST00000361733.3_Silent_p.N171N|MAP3K3_ENST00000584573.1_Silent_p.N202N	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	171					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCTCCCAGAACCCTGGCCGAA	0.597000													11	61					0	0	0.00136819	0	0
SAMHD1	25939	broad.mit.edu	37	20	35526915	35526915	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:35526915C>T	ENST00000262878.4	-	14	1735	c.1536G>A	c.(1534-1536)aaG>aaA	p.K512K		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	512					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				CAATTGGATTCTTTTCTTGCA	0.368000													17	116					0	0	0.00152264	0	0
PPAP2C	8612	broad.mit.edu	37	19	288022	288022	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:288022G>A	ENST00000269812.3	-	2	251	c.202C>T	c.(202-204)Ctt>Ttt	p.L68F	PPAP2C_ENST00000327790.3_Missense_Mutation_p.L89F|PPAP2C_ENST00000434325.2_Missense_Mutation_p.L12F	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	68					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCTTACAAGGATGACGGTG	0.647000													7	44					0	0	0.000274275	0	0
RANBP3L	202151	broad.mit.edu	37	5	36269494	36269494	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:36269494C>T	ENST00000296604.3	-	4	751	c.266G>A	c.(265-267)gGa>gAa	p.G89E	RANBP3L_ENST00000515759.1_Missense_Mutation_p.G89E|RANBP3L_ENST00000502994.1_Missense_Mutation_p.G89E	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	89					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			ATACATACCTCCCTGGGACTG	0.363000													13	119					0	0	0.000422831	0	0
MUC16	94025	broad.mit.edu	37	19	9067238	9067238	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9067238G>A	ENST00000397910.4	-	3	20411	c.20208C>T	c.(20206-20208)atC>atT	p.I6736I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6738	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						CTGTTCGAGTGATGATGGTCA	0.512000													25	135					0	0	0.00209593	0	0
COL4A4	1286	broad.mit.edu	37	2	227924939	227924939	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:227924939G>A	ENST00000396625.3	-	27	2284	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P693S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	693	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCACCTTGGGGACCTGGAAAT	0.443000													8	100					0	0	0.000157383	0	0
INADL	10207	broad.mit.edu	37	1	62393401	62393401	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:62393401G>A	ENST00000371158.2	+	27	3684		c.e27-1		INADL_ENST00000316485.6_Splice_Site	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)						intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TGCATCTTCAGAGGCAAGGAA	0.393000													9	50					0	0	0.000274275	0	0
FBLN1	2192	broad.mit.edu	37	22	45937144	45937144	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:45937144C>T	ENST00000348697.2	+	9	1105	c.958C>T	c.(958-960)Cct>Tct	p.P320S	FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000340923.5_Missense_Mutation_p.P320S|FBLN1_ENST00000327858.6_Missense_Mutation_p.P320S|FBLN1_ENST00000262722.7_Missense_Mutation_p.P320S|FBLN1_ENST00000442170.2_Missense_Mutation_p.P320S|FBLN1_ENST00000402984.3_Missense_Mutation_p.P358S			P23142	FBLN1_HUMAN	fibulin 1	320	EGF-like 4; calcium-binding (Potential).				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGCCCCGTGCCCTATCGGGCA	0.537000													8	66					0	0	0.000673444	0	0
FAM83B	222584	broad.mit.edu	37	6	54805003	54805003	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:54805003C>T	ENST00000306858.7	+	5	1350	c.1234C>T	c.(1234-1236)Cca>Tca	p.P412S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	412										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AACCAATAATCCACCTGGTAA	0.458000													9	48					0	0	0.000442599	0	0
CECR2	27443	broad.mit.edu	37	22	18016881	18016881	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:18016881C>T	ENST00000262608.8	+	9	1135	c.1135C>T	c.(1135-1137)Ccc>Tcc	p.P379S	CECR2_ENST00000342247.5_Missense_Mutation_p.P350S|CECR2_ENST00000400585.2_Missense_Mutation_p.P237S|CECR2_ENST00000400573.4_Missense_Mutation_p.P378S	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	420					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCATCTGGACCCCAATTCCCC	0.463000													5	77					0	0	0.000602214	0	0
MAP1B	4131	broad.mit.edu	37	5	71495579	71495579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:71495579C>T	ENST00000296755.7	+	5	6695	c.6397C>T	c.(6397-6399)Cca>Tca	p.P2133S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2133						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCCACCGCCTCCAGGAGGAAA	0.562000													5	58					0	0	0.000602214	0	0
BDP1	55814	broad.mit.edu	37	5	70819988	70819988	+	Silent	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:70819988T>C	ENST00000358731.4	+	25	5873	c.5610T>C	c.(5608-5610)gcT>gcC	p.A1870A	BDP1_ENST00000380675.2_Silent_p.A7A	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1870					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CTCTTCGGGCTTCCCAGGAAG	0.468000													20	118					0	0	0.00188189	0	0
NSMAF	8439	broad.mit.edu	37	8	59536305	59536305	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:59536305G>A	ENST00000038176.3	-	7	631	c.419C>T	c.(418-420)cCc>cTc	p.P140L	NSMAF_ENST00000427130.2_Missense_Mutation_p.P171L	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	140					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CACTTTCCCGGGAACATCCAA	0.373000													4	34					0	0	0.000602214	0	0
PCSK1	5122	broad.mit.edu	37	5	95746478	95746478	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:95746478G>A	ENST00000311106.3	-	8	1332	c.1095_splice	c.e8+1	p.I365_splice	PCSK1_ENST00000508626.1_Splice_Site_p.I318_splice|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_Intron	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	365	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGCAACATACGATTCTCTGGT	0.512000													15	86					0	0	0.000422831	0	0
FER1L6	654463	broad.mit.edu	37	8	125094666	125094666	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:125094666G>A	ENST00000522917.1	+	33	4564	c.4358G>A	c.(4357-4359)cGa>cAa	p.R1453Q	FER1L6_ENST00000399018.1_Missense_Mutation_p.R1453Q|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1453						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)			AGCAAACACCGAGCCATCTGT	0.498000													31	66					0	0	0.0024448	0	0
UGT2B15	7366	broad.mit.edu	37	4	69519904	69519904	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:69519904C>T	ENST00000338206.5	-	5	1173	c.1164G>A	c.(1162-1164)ggG>ggA	p.G388G		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	388					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CCATAGGGATCCCATGGTAGA	0.443000													6	96					0	0	0.00198382	0	0
DAB2	1601	broad.mit.edu	37	5	39393445	39393445	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:39393445C>A	ENST00000545653.1	-	3	672	c.142G>T	c.(142-144)Gta>Tta	p.V48L	DAB2_ENST00000339788.6_Missense_Mutation_p.V48L|DAB2_ENST00000509337.1_Missense_Mutation_p.V48L|DAB2_ENST00000320816.6_Missense_Mutation_p.V48L	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	48	PID.				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TTATATTTTACACCATCGCCT	0.393000													11	134					2.27111e-07	9.93085e-07	0.00136819	1	0
KCNH2	3757	broad.mit.edu	37	7	150649761	150649761	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:150649761C>T	ENST00000392968.2	-	4	2141	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	KCNH2_ENST00000330883.4_Missense_Mutation_p.E97K|KCNH2_ENST00000430723.3_Missense_Mutation_p.E437K|KCNH2_ENST00000262186.5_Missense_Mutation_p.E437K			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	437					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GGGCCTTCTTCCGTCTCCTTC	0.597000													17	66					0	0	0.00152264	0	0
AOX1	316	broad.mit.edu	37	2	201501681	201501681	+	Silent	SNP	C	C	T	rs146121085		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:201501681C>T	ENST00000374700.2	+	22	2635	c.2394C>T	c.(2392-2394)tgC>tgT	p.C798C	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	798					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AGGTCATGTGCCATGTAAGGC	0.448000													11	46					0	0	0.000673444	0	0
SEZ6L	23544	broad.mit.edu	37	22	26706646	26706646	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:26706646C>T	ENST00000529632.2	+	7	1721	c.1525C>T	c.(1525-1527)Cac>Tac	p.H509Y	SEZ6L_ENST00000402979.1_Missense_Mutation_p.H282Y|SEZ6L_ENST00000343706.4_Missense_Mutation_p.H509Y|SEZ6L_ENST00000403121.1_Missense_Mutation_p.H282Y|SEZ6L_ENST00000360929.3_Missense_Mutation_p.H509Y|SEZ6L_ENST00000248933.6_Missense_Mutation_p.H509Y|SEZ6L_ENST00000404234.3_Missense_Mutation_p.H509Y	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	509	CUB 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GATGACGGTTCACAGCGGGCA	0.572000													7	54					0	0	0.000442599	0	0
COL23A1	91522	broad.mit.edu	37	5	177694308	177694308	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:177694308C>T	ENST00000390654.3	-	8	879	c.522_splice	c.e8+1	p.R174_splice	COL23A1_ENST00000407622.1_Splice_Site_p.R138_splice	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	174	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TGGTTCTTACCCGGGGGCCAA	0.552000													8	19					0	0	0.000673444	0	0
RTCA	8634	broad.mit.edu	37	1	100757014	100757014	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:100757014A>T	ENST00000370128.4	+	11	1224	c.1055A>T	c.(1054-1056)tAt>tTt	p.Y352F	RTCA_ENST00000260563.4_Missense_Mutation_p.Y365F	NM_003729.3	NP_003720.1	O00442	RTC1_HUMAN	RNA 3'-terminal phosphate cyclase	352					RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity										AAAGATACTTATATTATTGAA	0.318000													50	251					0	0	0.000781405	0	0
RANBP17	64901	broad.mit.edu	37	5	170720921	170720921	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:170720921A>T	ENST00000523189.1	+	26	3142	c.2978A>T	c.(2977-2979)gAa>gTa	p.E993V	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	993					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATTGTCTTTGAAGACTGTCGG	0.498000			T	TRD@	ALL								13	240					0	0	0.000958276	0	0
CSMD2	114784	broad.mit.edu	37	1	34164413	34164413	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:34164413C>T	ENST00000373381.4	-	24	4041	c.3865G>A	c.(3865-3867)Gag>Aag	p.E1289K	CSMD2_ENST00000373380.1_Missense_Mutation_p.E162K|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1249	CUB 8.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACAGCAGCTCCTCACTACCC	0.602000													7	53					0	0	0.000157383	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370291	35370291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:35370291G>A	ENST00000373347.1	-	3	962	c.694C>T	c.(694-696)Cac>Tac	p.H232Y	DLGAP3_ENST00000235180.4_Missense_Mutation_p.H232Y			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	232	Poly-His.				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				tggtggtggtggtgatggtgg	0.657000													5	36					0	0	0.000602214	0	0
CEACAM20	125931	broad.mit.edu	37	19	45029212	45029212	+	RNA	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:45029212C>T	ENST00000454753.1	-	0	396							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TGGGTGGCATCAAGTGGGTTG	0.572000													15	360					0	0	0.00074312	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130791572	130791572	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:130791572G>A	ENST00000509018.1	-	20	3203	c.2998C>T	c.(2998-3000)Ctt>Ttt	p.L1000F	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.L1005F|FNIP1_ENST00000514667.1_Missense_Mutation_p.L1050F|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.L1000F|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.L715F|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.L1000F|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.L1000F	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1000	Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TGACTACTAAGAATATTTCTA	0.333000													20	103					0	0	0.000586117	0	0
TUB	7275	broad.mit.edu	37	11	8111718	8111718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:8111718G>A	ENST00000305253.4	+	4	599	c.358G>A	c.(358-360)Gag>Aag	p.E120K	TUB_ENST00000534099.1_Missense_Mutation_p.E71K|TUB_ENST00000299506.2_Missense_Mutation_p.E65K	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	65					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		ccggcAGTCAGAGGAACAAGC	0.657000													5	32					0	0	0.00198382	0	0
WDFY3	23001	broad.mit.edu	37	4	85711007	85711007	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:85711007G>A	ENST00000322366.6	-	22	3948	c.3541C>T	c.(3541-3543)Cgc>Tgc	p.R1181C	WDFY3_ENST00000295888.4_Missense_Mutation_p.R1181C			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1181						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.R1181C(1)		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)		CATCGAAAGCGAGCACAGCAT	0.413000													7	70					0	0	0.000157383	0	0
SLC6A4	6532	broad.mit.edu	37	17	28530326	28530326	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:28530326G>A	ENST00000401766.2	-	13	2194	c.1682C>T	c.(1681-1683)cCa>cTa	p.P561L	SLC6A4_ENST00000261707.3_Missense_Mutation_p.P561L			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	561					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	TCGTAGTTGTGGCGGGCTCAT	0.363000													10	108					0	0	0.000978159	0	0
ZNF223	7766	broad.mit.edu	37	19	44564992	44564992	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:44564992C>T	ENST00000591793.1	+	6	646	c.563C>T	c.(562-564)tCa>tTa	p.S188L	ZNF223_ENST00000434772.3_Missense_Mutation_p.S78L|ZNF223_ENST00000585552.1_Missense_Mutation_p.S78L			Q9UK11	ZN223_HUMAN	zinc finger protein 223	78					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				GAAGGGAATTCAGGTAAGAAG	0.433000													9	117					0	0	0.000673444	0	0
ASNS	440	broad.mit.edu	37	7	97482666	97482666	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:97482666C>T	ENST00000175506.4	-	12	1799	c.1271G>A	c.(1270-1272)cGa>cAa	p.R424Q	ASNS_ENST00000394309.3_Missense_Mutation_p.R424Q|ASNS_ENST00000437628.1_Missense_Mutation_p.R341Q|ASNS_ENST00000394308.3_Missense_Mutation_p.R424Q|ASNS_ENST00000422745.1_Missense_Mutation_p.R403Q|ASNS_ENST00000455086.1_Missense_Mutation_p.R341Q|ASNS_ENST00000444334.1_Missense_Mutation_p.R403Q	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	424	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGAAGAAAATCGATGATCTAG	0.358000													14	76					0	0	0.000422831	0	0
SUSD1	64420	broad.mit.edu	37	9	114840972	114840972	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:114840972C>T	ENST00000374270.3	-	12	1771	c.1599G>A	c.(1597-1599)aaG>aaA	p.K533K	SUSD1_ENST00000374263.3_Silent_p.K533K|SUSD1_ENST00000374264.2_Silent_p.K533K	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	533						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGGCAAATTCCTTCTGATACC	0.483000													13	63					0	0	0.00244969	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55284794	55284794	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:55284794G>A	ENST00000336077.6	+	3	120	c.80G>A	c.(79-81)aGa>aAa	p.R27K	CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.R27K	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	27					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		GGAGTCCACAGAAAACCTTCC	0.507000													22	124					0	0	0.000720815	0	0
CHRND	1144	broad.mit.edu	37	2	233393644	233393644	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:233393644C>T	ENST00000258385.3	+	6	614	c.582C>T	c.(580-582)ccC>ccT	p.P194P	CHRND_ENST00000543200.1_Silent_p.P179P|CHRND_ENST00000457943.2_Intron|CHRND_ENST00000536614.1_Intron	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	194					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		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;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GCACCTACCCCGTGGAGTGGA	0.582000													10	34					0	0	0.000978159	0	0
IL6ST	3572	broad.mit.edu	37	5	55237253	55237253	+	Missense_Mutation	SNP	C	C	T	rs143321948		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:55237253C>T	ENST00000381298.2	-	17	2726	c.2414G>A	c.(2413-2415)gGt>gAt	p.G805D	IL6ST_ENST00000502326.3_Missense_Mutation_p.G805D|IL6ST_ENST00000381287.4_3'UTR|CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000336909.5_Missense_Mutation_p.G805D|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381294.3_Missense_Mutation_p.G744D	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	805					interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AATACCATCACCGCCATCTAC	0.448000			O		hepatocellular ca								7	82					0	0	0.00198382	0	0
PDE1C	5137	broad.mit.edu	37	7	31862735	31862735	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:31862735C>T	ENST00000396184.3	-	15	1738	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	PDE1C_ENST00000396191.1_Missense_Mutation_p.E512K|PDE1C_ENST00000321453.7_Missense_Mutation_p.E512K|PDE1C_ENST00000396193.1_Missense_Mutation_p.E572K|PDE1C_ENST00000396182.2_Missense_Mutation_p.E512K	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	512	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGCACCACTTCCGTCCAAGTA	0.488000													16	71					0	0	0.000958276	0	0
L1CAM	3897	broad.mit.edu	37	X	153130813	153130813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:153130813G>A	ENST00000370060.1	-	21	2879	c.2690C>T	c.(2689-2691)gCc>gTc	p.A897V	L1CAM_ENST00000361981.3_Missense_Mutation_p.A892V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A899V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A899V|L1CAM_ENST00000361699.4_Missense_Mutation_p.A897V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A897V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A892V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	897	Fibronectin type-III 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCGTTAAAGGCCTGCACCTC	0.632000													9	23					0	0	0.000274275	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871244	51871244	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:51871244G>A	ENST00000371497.5	+	2	2134	c.1247G>A	c.(1246-1248)gGg>gAg	p.G416E	TSHZ2_ENST00000603338.2_Missense_Mutation_p.G413E|TSHZ2_ENST00000329613.6_Missense_Mutation_p.G413E	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	416					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G416V(1)		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)			TCCAAGAAAGGGAAGCAGCTG	0.532000													24	107					0	0	0.000878237	0	0
NXPH1	30010	broad.mit.edu	37	7	8791023	8791023	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:8791023G>A	ENST00000405863.1	+	3	1351	c.440G>A	c.(439-441)gGg>gAg	p.G147E	NXPH1_ENST00000602349.1_Missense_Mutation_p.G30E|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	147	III.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CATGGCAATGGGACATTTAGT	0.388000													7	40					0	0	0.000274275	0	0
MYH7	4625	broad.mit.edu	37	14	23900877	23900877	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:23900877C>T	ENST00000355349.3	-	8	811	c.649G>A	c.(649-651)Gag>Aag	p.E217K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	217	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATCTGGTCCTCCAGGGTGCCC	0.627000													12	42					0	0	0.00136819	0	0
DSG1	1828	broad.mit.edu	37	18	28909865	28909865	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:28909865G>A	ENST00000257192.4	+	5	595	c.383G>A	c.(382-384)cGa>cAa	p.R128Q		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	128	Cadherin 1.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATCTACTGCCGAGCTCTGAAC	0.398000													6	37					0	0	0.000157383	0	0
SPACA1	81833	broad.mit.edu	37	6	88767396	88767396	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:88767396G>A	ENST00000237201.1	+	3	449	c.332G>A	c.(331-333)cGg>cAg	p.R111Q		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	111						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TGTGTTGTACGGGTAGAAGAA	0.393000													5	36					0	0	0.00116845	0	0
EPB41L2	2037	broad.mit.edu	37	6	131277395	131277395	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:131277395G>A	ENST00000337057.3	-	2	412	c.231C>T	c.(229-231)ttC>ttT	p.F77F	EPB41L2_ENST00000392427.3_Silent_p.F77F|EPB41L2_ENST00000527659.1_Silent_p.F77F|EPB41L2_ENST00000527411.1_Silent_p.F77F|EPB41L2_ENST00000525271.1_Silent_p.F77F|EPB41L2_ENST00000445890.2_Silent_p.F77F|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000530481.1_Silent_p.F77F|EPB41L2_ENST00000529208.1_Silent_p.F77F|EPB41L2_ENST00000368128.2_Silent_p.F77F|EPB41L2_ENST00000528282.1_Silent_p.F77F|EPB41L2_ENST00000525193.1_Silent_p.F77F	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	77					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		atggCGGTATGAACCGAGAAA	0.478000													11	107					0	0	0.00136819	0	0
RASL11A	387496	broad.mit.edu	37	13	27847599	27847599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:27847599C>T	ENST00000241463.4	+	4	1315	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S		NM_206827.1	NP_996563.1	Q6T310	RSLBA_HUMAN	RAS-like, family 11, member A	233	Small GTPase-like.				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		GGCTCTGTCTCCCAAAGTCAA	0.547000													6	28					0	0	0.00198382	0	0
THSD7A	221981	broad.mit.edu	37	7	11676471	11676471	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:11676471T>A	ENST00000423059.3	-	2	559	c.308A>T	c.(307-309)gAg>gTg	p.E103V	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	103	TSP type-1 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATTGGGTCTCTCGGCCTGCTT	0.507000										HNSCC(18;0.044)			7	68					0	0	0.00198382	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100014033	100014033	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:100014033C>T	ENST00000398027.2	-	7	773	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	ZCWPW1_ENST00000490721.1_Missense_Mutation_p.E55K|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.E176K|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.E55K	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	176							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGGCAGCTTCACCTTCCCAA	0.408000													9	69					0	0	0.000978159	0	0
CYLC2	1539	broad.mit.edu	37	9	105767538	105767538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:105767538G>A	ENST00000374798.3	+	5	695	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	CYLC2_ENST00000487798.1_Missense_Mutation_p.E209K	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	209	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				ATCTGAAGGTGAAAAAGGAGG	0.353000													7	37					0	0	0.000157383	0	0
ITGB4	3691	broad.mit.edu	37	17	73725385	73725385	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:73725385C>T	ENST00000200181.3	+	7	793	c.606C>T	c.(604-606)tcC>tcT	p.S202S	ITGB4_ENST00000339591.3_Silent_p.S202S|ITGB4_ENST00000449880.2_Silent_p.S202S|ITGB4_ENST00000579662.1_Silent_p.S202S|ITGB4_ENST00000450894.3_Silent_p.S202S|ITGB4_ENST00000584558.1_3'UTR	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	202	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCCCTTCTCCTTCAAGAACG	0.607000													6	34					0	0	0.000274275	0	0
CHST14	113189	broad.mit.edu	37	15	40764369	40764369	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:40764369C>T	ENST00000306243.5	+	1	1210	c.957C>T	c.(955-957)gtC>gtT	p.V319V	CHST14_ENST00000559991.1_Silent_p.V294V	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	319					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		CACCTCACGTCCGATTTCCAG	0.632000													7	49					0	0	0.00198382	0	0
WSB1	26118	broad.mit.edu	37	17	25631814	25631814	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:25631814C>T	ENST00000262394.2	+	4	803	c.487C>T	c.(487-489)Ctc>Ttc	p.L163F	WSB1_ENST00000579733.1_Missense_Mutation_p.L17F|WSB1_ENST00000581185.1_Missense_Mutation_p.L163F|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000348811.2_Missense_Mutation_p.L17F|WSB1_ENST00000427287.2_Missense_Mutation_p.L132F	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	163					intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGGAAAACTCCTCCTTAACTT	0.358000													10	66					0	0	0.000978159	0	0
IGFL3	388555	broad.mit.edu	37	19	46623587	46623587	+	Nonstop_Mutation	SNP	T	T	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:46623587T>A	ENST00000341415.2	-	4	402	c.378A>T	c.(376-378)taA>taT	p.*126Y	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	0						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		cctggggtttttatgggtaca	0.478000													6	55					0	0	0.00116845	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73160698	73160698	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:73160698G>A	ENST00000545377.1	+	17	2279		c.e17+1		ARHGEF28_ENST00000296794.6_Splice_Site|ARHGEF28_ENST00000437974.1_Splice_Site|ARHGEF28_ENST00000287898.5_Splice_Site|ARHGEF28_ENST00000426542.2_Splice_Site|ARHGEF28_ENST00000296799.4_Splice_Site|ARHGEF28_ENST00000513042.2_Splice_Site	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		ATGCACCAAGGTAATTGCTCA	0.343000													5	39					0	0	0.00116845	0	0
MGLL	11343	broad.mit.edu	37	3	127411111	127411111	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:127411111G>A	ENST00000434178.2	-	8	1738	c.842C>T	c.(841-843)tCc>tTc	p.S281F	MGLL_ENST00000398104.1_Missense_Mutation_p.S281F|MGLL_ENST00000476682.1_5'UTR|MGLL_ENST00000398101.3_Missense_Mutation_p.S255F|MGLL_ENST00000265052.5_Missense_Mutation_p.S291F|MGLL_ENST00000453507.2_Missense_Mutation_p.S261F			Q99685	MGLL_HUMAN	monoglyceride lipase	281					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						ATGGAAGACGGAGTTGGTGAC	0.537000													14	72					0	0	0.000308642	0	0
HTR1E	3354	broad.mit.edu	37	6	87725778	87725778	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:87725778C>T	ENST00000305344.4	+	2	1429	c.726C>T	c.(724-726)ttC>ttT	p.F242F	HTR1E_ENST00000369584.1_Silent_p.F242F	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	242					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CACAGACTTTCTGTGTGTCTG	0.468000													24	122					0	0	0.001512	0	0
SPANXN3	139067	broad.mit.edu	37	X	142605190	142605190	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:142605190C>T	ENST00000370503.2	-	1	113	c.30G>A	c.(28-30)ggG>ggA	p.G10G		NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	10										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TCGTCTTCTCCCCATTGGTGC	0.448000													9	67					0	0	0.000442599	0	0
ISX	91464	broad.mit.edu	37	22	35463173	35463173	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:35463173C>T	ENST00000308700.6	+	1	1045	c.93C>T	c.(91-93)ttC>ttT	p.F31F	RP1-272J12.1_ENST00000448318.4_RNA|ISX_ENST00000404699.2_Silent_p.F31F	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	31						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCCTGTCCTTCTCCATTGAGG	0.607000													4	9					0	0	0.00024832	0	0
INADL	10207	broad.mit.edu	37	1	62393404	62393404	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:62393404G>C	ENST00000371158.2	+	27	3687	c.3573G>C	c.(3571-3573)agG>agC	p.R1191S	INADL_ENST00000316485.6_Missense_Mutation_p.R1191S	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1191					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATCTTCAGAGGCAAGGAACTG	0.393000													9	54					0	0	0.000274275	0	0
RTCB	51493	broad.mit.edu	37	22	32791048	32791048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:32791048G>A	ENST00000216038.5	-	9	1242	c.1144C>T	c.(1144-1146)Cct>Tct	p.P382S	RTCB_ENST00000451746.2_Intron	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		TGGTGAGGAGGGAAAGCGCGG	0.478000													7	61					0	0	0.000274275	0	0
CCDC141	285025	broad.mit.edu	37	2	179732833	179732833	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:179732833C>T	ENST00000420890.2	-	16	2611	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E257K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	257							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GCTTGCTTTTCCTGAGAGCAC	0.517000													9	41					0	0	0.000673444	0	0
SEC23A	10484	broad.mit.edu	37	14	39545159	39545159	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:39545159A>G	ENST00000537403.1	-	4	1563	c.361T>C	c.(361-363)Tat>Cat	p.Y121H	SEC23A_ENST00000536508.1_Missense_Mutation_p.Y197H|SEC23A_ENST00000545328.2_Missense_Mutation_p.Y294H|SEC23A_ENST00000307712.6_Missense_Mutation_p.Y323H			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	323					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TTTTTAACATATTTGGCATTG	0.378000													5	87					0	0	0.00198382	0	0
FAM129A	116496	broad.mit.edu	37	1	184764988	184764988	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:184764988C>T	ENST00000367511.3	-	14	2103	c.1910G>A	c.(1909-1911)gGa>gAa	p.G637E	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	637					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						AAGGCTTTCTCCTTTGGCCAA	0.542000													18	50					0	0	0.00152264	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103124167	103124167	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:103124167T>C	ENST00000375735.2	+	66	10340	c.10196T>C	c.(10195-10197)tTa>tCa	p.L3399S	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3406S|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3399	AAA 5 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGAAGTGGATTACGAGGGCAG	0.363000													20	85					0	0	0.00047179	0	0
ALK	238	broad.mit.edu	37	2	29940525	29940525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:29940525G>A	ENST00000389048.3	-	2	1612	c.706C>T	c.(706-708)Cct>Tct	p.P236S	ALK_ENST00000431873.1_Missense_Mutation_p.P236S	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	236					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TCAGGAGAAGGAGAAGGCATG	0.403000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				8	57					0	0	0.000274275	0	0
MYLK	4638	broad.mit.edu	37	3	123385177	123385177	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:123385177G>A	ENST00000360772.3	-	23	4098	c.3720C>T	c.(3718-3720)atC>atT	p.I1240I	MYLK_ENST00000346322.5_Silent_p.I1171I|MYLK_ENST00000354792.5_Silent_p.I40I|MYLK_ENST00000475616.1_Silent_p.I1240I|MYLK_ENST00000359169.1_Silent_p.I1240I|MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000360304.3_Silent_p.I1240I			Q15746	MYLK_HUMAN	myosin light chain kinase	1240	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGAACTGGATGATCTGAGGGG	0.557000													7	29					0	0	0.000274275	0	0
WDR52	55779	broad.mit.edu	37	3	113082150	113082150	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:113082150C>T	ENST00000393845.2	-	21	2842	c.2776G>A	c.(2776-2778)Gag>Aag	p.E926K	WDR52_ENST00000295868.2_Missense_Mutation_p.E926K	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	926										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CTAGCATTCTCGATACTGAAA	0.323000													13	99					0	0	0.00136819	0	0
OR2J3	442186	broad.mit.edu	37	6	29079995	29079995	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:29079995C>T	ENST00000377169.1	+	1	328	c.328C>T	c.(328-330)Ctg>Ttg	p.L110L		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TGTTCTCGCACTGGGAACCAC	0.498000													7	106					0	0	0.00198382	0	0
TRIM6	117854	broad.mit.edu	37	11	5632084	5632084	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:5632084G>A	ENST00000380097.3	+	8	1305	c.1063G>A	c.(1063-1065)Gga>Aga	p.G355R	TRIM6_ENST00000506134.1_Missense_Mutation_p.G152R|TRIM6_ENST00000278302.5_Missense_Mutation_p.G327R|TRIM6_ENST00000481603.1_3'UTR|TRIM6_ENST00000380107.1_Missense_Mutation_p.G301R|TRIM6_ENST00000445329.1_Missense_Mutation_p.G152R|TRIM6_ENST00000515022.1_Missense_Mutation_p.G152R|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Intron|TRIM6_ENST00000507320.1_Missense_Mutation_p.G152R|AC015691.13_ENST00000394793.2_RNA	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1			tripartite motif containing 6											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		GAGGTTTGTGGGAGCTAAAGT	0.463000													12	44					0	0	0.00136819	0	0
DNAH7	56171	broad.mit.edu	37	2	196774764	196774764	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:196774764C>T	ENST00000312428.6	-	25	4191	c.4091G>A	c.(4090-4092)gGa>gAa	p.G1364E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1364	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAAGAATTTTCCCAAAGCCAA	0.358000													4	36					0	0	0.000602214	0	0
THSD7B	80731	broad.mit.edu	37	2	137814593	137814593	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:137814593G>A	ENST00000409968.1	+	3	921	c.743G>A	c.(742-744)tGg>tAg	p.W248*	THSD7B_ENST00000543459.1_Nonsense_Mutation_p.W107*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.W248*|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.W217*					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTTGGACCATGGAGTAAATGC	0.413000													10	126					0	0	0.000978159	0	0
KAT8	84148	broad.mit.edu	37	16	31141467	31141467	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:31141467T>C	ENST00000543774.2	+	8	1236	c.901T>C	c.(901-903)Tac>Cac	p.Y301H	KAT8_ENST00000448516.2_Missense_Mutation_p.Y301H|KAT8_ENST00000219797.4_Missense_Mutation_p.Y301H			Q9H7Z6	MYST1_HUMAN	K(lysine) acetyltransferase 8	301					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										CATTGTTGGCTACTTCTCCAA	0.602000													30	146					0	0	0.000692331	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113659148	113659148	+	Missense_Mutation	SNP	C	C	T	rs138939818	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:113659148C>T	ENST00000358160.4	+	17	2356	c.1864C>T	c.(1864-1866)Cgt>Tgt	p.R622C	GRAMD1C_ENST00000452134.2_Missense_Mutation_p.R351C|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.R417C|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.R455C|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	622						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TCAGGCCCATCGTTTAAAGGG	0.403000													19	215					0	0	0.00152264	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140798397	140798397	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140798397G>A	ENST00000398594.2	+	1	971	c.971G>A	c.(970-972)cGa>cAa	p.R324Q	PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAAAGACCGAGGATCTCTC	0.388000													8	31					0	0	0.000157383	0	0
ARSF	416	broad.mit.edu	37	X	3028290	3028290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:3028290G>A	ENST00000381127.1	+	10	1608	c.1387G>A	c.(1387-1389)Gac>Aac	p.D463N	ARSF_ENST00000537104.1_Missense_Mutation_p.D463N|ARSF_ENST00000359361.2_Missense_Mutation_p.D463N	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	463						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCCCAAGGACGACAGTGAGTG	0.572000													10	25					0	0	0.00185496	0	0
HLA-DRB1	3123	broad.mit.edu	37	6	32548626	32548626	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:32548626C>T	ENST00000360004.5	-	4	765	c.660G>A	c.(658-660)cgG>cgA	p.R220R		NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						CAGATTCAGACCGTGCTCCTG	0.483000										Multiple Myeloma(14;0.17)			7	79					0	0	0.000157383	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997079	82997079	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:82997079G>A	ENST00000307792.3	-	17	2618	c.2151C>T	c.(2149-2151)atC>atT	p.I717I	SEMA3E_ENST00000427262.1_Silent_p.I657I	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	717					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TGCTATAACCGATCAGCTGCA	0.473000													19	70					0	0	0.00188189	0	0
CDK19	23097	broad.mit.edu	37	6	110959894	110959894	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:110959894G>A	ENST00000368911.3	-	5	651	c.472C>T	c.(472-474)Cta>Tta	p.L158L	CDK19_ENST00000413605.2_Silent_p.L34L|CDK19_ENST00000323817.3_Silent_p.L98L	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	158	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						CCCATTACTAGGATATTTGCT	0.303000													22	231					0	0	0.000586117	0	0
ASXL3	80816	broad.mit.edu	37	18	31325280	31325280	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:31325280G>A	ENST00000269197.5	+	12	5468	c.5468G>A	c.(5467-5469)cGa>cAa	p.R1823Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1823					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.R1823Q(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATGAGAAAGCGAGAAAACCAC	0.478000													13	122					0	0	0.000566183	0	0
DNAH5	1767	broad.mit.edu	37	5	13871751	13871751	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:13871751G>A	ENST00000265104.4	-	23	3624	c.3520C>T	c.(3520-3522)Ctc>Ttc	p.L1174F	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1174	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)					TGGAAATAGAGAATCTGGGAC	0.393000									Kartagener syndrome				5	36					0	0	0.000602214	0	0
ABCC9	10060	broad.mit.edu	37	12	21997430	21997430	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:21997430T>C	ENST00000261200.4	-	26	3301	c.3302A>G	c.(3301-3303)aAt>aGt	p.N1101S	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.N1101S|ABCC9_ENST00000345162.2_Missense_Mutation_p.N1065S	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1101	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATCAATGATATTAGTATCAGC	0.318000													20	119					0	0	0.000720815	0	0
PAX7	5081	broad.mit.edu	37	1	19062344	19062344	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:19062344C>T	ENST00000420770.2	+	8	1457	c.1374C>T	c.(1372-1374)gcC>gcT	p.A458A	PAX7_ENST00000375375.3_Silent_p.A458A|PAX7_ENST00000400661.3_Silent_p.A456A	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	458					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A458A(1)	PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		ACCCCGTGGCCGGCTATCAGT	0.672000			T	FOXO1A	alveolar rhabdomyosarcoma								5	37					0	0	0.000602214	0	0
ROR2	4920	broad.mit.edu	37	9	94499761	94499761	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:94499761C>T	ENST00000375708.3	-	5	732	c.534G>A	c.(532-534)cgG>cgA	p.R178R	ROR2_ENST00000375715.1_Silent_p.R38R|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	178	FZ.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGGCAATTCCCCGGTAAGGCT	0.532000													9	37					0	0	0.000673444	0	0
ABCB7	22	broad.mit.edu	37	X	74318808	74318808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:74318808G>A	ENST00000253577.3	-	4	449	c.425C>T	c.(424-426)gCc>gTc	p.A142V	ABCB7_ENST00000373394.3_Missense_Mutation_p.A141V|ABCB7_ENST00000339447.4_Intron	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	141	ABC transmembrane type-1.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						CAGCGAAATGGCAACTCTAGC	0.383000													8	29					0	0	0.000442599	0	0
TRBV10-1	28585	broad.mit.edu	37	7	142231600	142231600	+	RNA	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:142231600G>A	ENST00000390364.3	-	0	384																											GAAATATACAGATGTCTGGGA	0.527000													15	64					0	0	0.000958276	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420974	55420974	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:55420974G>A	ENST00000242994.3	+	2	1129	c.751G>A	c.(751-753)Ggc>Agc	p.G251S		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	251					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CCCTTATGAGGGCCCACTCAC	0.512000													5	14					0	0	0.000602214	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890511	23890511	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:23890511G>A	ENST00000532292.1	-	1	664	c.570C>T	c.(568-570)acC>acT	p.T190T		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GAAACTGGGAGGTAGCTGGGA	0.582000													8	82					0	0	0.000157383	0	0
LRP1B	53353	broad.mit.edu	37	2	141143522	141143522	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:141143522C>T	ENST00000389484.3	-	67	11442	c.10471G>A	c.(10471-10473)Gat>Aat	p.D3491N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3491	LDL-receptor class A 25.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D3491N(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGCCAGTGATCGGGAATACAG	0.378000										TSP Lung(27;0.18)			16	57					0	0	0.000566183	0	0
SLC22A11	55867	broad.mit.edu	37	11	64329570	64329570	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:64329570G>A	ENST00000301891.4	+	3	966	c.592G>A	c.(592-594)Ggc>Agc	p.G198S	SLC22A11_ENST00000377585.3_Missense_Mutation_p.G198S|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377581.3_Missense_Mutation_p.G198S	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	198					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CATCTACTGCGGCCTGCGGTT	0.637000											OREG0004030	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	10	39					0	0	0.000978159	0	0
C1orf53	388722	broad.mit.edu	37	1	197876332	197876332	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:197876332T>A	ENST00000367393.3	+	3	423	c.420T>A	c.(418-420)aaT>aaA	p.N140K	C1orf53_ENST00000542800.1_3'UTR	NM_001024594.2	NP_001019765.1	Q5VUE5	CA053_HUMAN	chromosome 1 open reading frame 53	140										endometrium(1)|lung(1)	2						AGCAATTCAATTCATATTTTT	0.269000													12	64					0	0	0.000566183	0	0
LILRA6	79168	broad.mit.edu	37	19	54745567	54745567	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:54745567G>A	ENST00000440558.2	-	4	591	c.543C>T	c.(541-543)ttC>ttT	p.F181F	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Silent_p.F181F|LILRA6_ENST00000396365.2_Silent_p.F181F|LILRA6_ENST00000270464.5_Silent_p.F181F|LILRA6_ENST00000245621.5_Silent_p.F181F|LILRA6_ENST00000391735.3_Silent_p.F181F					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGCCCACAGGGAACAGGGCCT	0.597000													6	21					0	0	0.00198382	0	0
SLC4A3	6508	broad.mit.edu	37	2	220504252	220504252	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:220504252C>T	ENST00000358055.3	+	20	3584	c.3072C>T	c.(3070-3072)ttC>ttT	p.F1024F	SLC4A3_ENST00000373762.3_Silent_p.F1051F|SLC4A3_ENST00000317151.3_Silent_p.F1024F|SLC4A3_ENST00000373760.2_Silent_p.F1024F|SLC4A3_ENST00000273063.6_Silent_p.F1051F			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1024	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCCGGTTTCCACCTGGACC	0.682000													8	32					0	0	0.000442599	0	0
F13A1	2162	broad.mit.edu	37	6	6305608	6305608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:6305608G>A	ENST00000264870.3	-	3	560	c.295C>T	c.(295-297)Ctc>Ttc	p.L99F		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	99					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	ACCCTGAAGAGATCCCTTCTG	0.493000													12	43					0	0	0.00244969	0	0
EP300	2033	broad.mit.edu	37	22	41527608	41527608	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:41527608C>T	ENST00000263253.7	+	6	2718	c.1499C>T	c.(1498-1500)cCc>cTc	p.P500L		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	500					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGGCAGTCTCCCCAAGGCATG	0.473000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				12	66					0	0	0.00136819	0	0
AOC4P	90586	broad.mit.edu	37	17	41020661	41020661	+	RNA	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:41020661G>A	ENST00000585538.1	+	0	1500					NR_002773.1																						GGGCCTTGCGGAAACGGTGCT	0.507000													4	19					0	0	0.00024832	0	0
GJB6	10804	broad.mit.edu	37	13	20796929	20796929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:20796929G>A	ENST00000356192.6	-	5	1311	c.691C>T	c.(691-693)Cac>Tac	p.H231Y	GJB6_ENST00000400066.3_Missense_Mutation_p.H231Y|GJB6_ENST00000241124.6_Missense_Mutation_p.H231Y|GJB6_ENST00000400065.3_Missense_Mutation_p.H231Y	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	231					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		TGATTGGGGTGATTTTTTTGC	0.428000													18	89					0	0	0.00074312	0	0
MAP3K4	4216	broad.mit.edu	37	6	161470424	161470424	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:161470424C>T	ENST00000392142.4	+	3	1268	c.1120C>T	c.(1120-1122)Ctt>Ttt	p.L374F	MAP3K4_ENST00000366919.2_Missense_Mutation_p.L374F|MAP3K4_ENST00000348824.7_Missense_Mutation_p.L374F|MAP3K4_ENST00000366920.2_Missense_Mutation_p.L374F	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	374					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ATTGCAGGCTCTTCAGAAGGA	0.423000													5	45					0	0	0.00116845	0	0
OR5C1	392391	broad.mit.edu	37	9	125551214	125551214	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:125551214G>A	ENST00000373680.2	+	1	65	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CCAGTAGGATGAACTCAGAGA	0.572000													18	45					0	0	0.00278032	0	0
TEKT5	146279	broad.mit.edu	37	16	10783843	10783843	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:10783843C>G	ENST00000283025.2	-	2	675	c.604G>C	c.(604-606)Ggg>Cgg	p.G202R		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	202					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						AAATCAATCCCAATCCTCTTC	0.532000													9	62					0	0	0.00136819	0	0
COL6A1	1291	broad.mit.edu	37	21	47412101	47412101	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:47412101C>T	ENST00000361866.3	+	17	1320	c.1206C>T	c.(1204-1206)ccC>ccT	p.P402P		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	402	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGCCTGGGCCCCCCGGAGAGA	0.647000													10	43					0	0	0.00185496	0	0
TTN	7273	broad.mit.edu	37	2	179486673	179486673	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:179486673C>T	ENST00000589042.1	-	244	45200	c.44976G>A	c.(44974-44976)aaG>aaA	p.K14992K	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.K13351K|TTN_ENST00000359218.5_Silent_p.K6052K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.K5927K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.K12424K|TTN_ENST00000342175.6_Silent_p.K6119K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13351	Fibronectin type-III 8.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCACTGCTCCCTTGGATATGA	0.368000													5	9					0	0	0.00116845	0	0
RHAG	6005	broad.mit.edu	37	6	49586938	49586938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:49586938C>T	ENST00000371175.4	-	2	321	c.295G>A	c.(295-297)Gga>Aga	p.G99R	RHAG_ENST00000229810.7_Missense_Mutation_p.G99R	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	99					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TGCAGGATTCCCTGTACAATA	0.453000													7	46					0	0	0.00198382	0	0
LMO7	4008	broad.mit.edu	37	13	76408475	76408475	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:76408475C>T	ENST00000357063.3	+	18	4594	c.3334C>T	c.(3334-3336)Caa>Taa	p.Q1112*	LMO7_ENST00000321797.8_Nonsense_Mutation_p.Q827*|LMO7_ENST00000526202.1_Nonsense_Mutation_p.Q677*|LMO7_ENST00000341547.4_Nonsense_Mutation_p.Q778*|LMO7_ENST00000377534.3_Nonsense_Mutation_p.Q1112*|LMO7_ENST00000465261.2_Nonsense_Mutation_p.Q827*			Q8WWI1	LMO7_HUMAN	LIM domain 7	1112	PDZ.					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)		GGCTAAGGCTCAAGAAACTGG	0.433000													6	61					0	0	0.000157383	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530036	80530036	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:80530036C>T	ENST00000295057.3	-	2	1565	c.909G>A	c.(907-909)tgG>tgA	p.W303*	CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Nonsense_Mutation_p.W303*|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	303						axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.W303C(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TCAGGGACTTCCAAGAGTTGA	0.627000										HNSCC(69;0.2)			4	27					0	0	0.00024832	0	0
NEB	4703	broad.mit.edu	37	2	152423779	152423779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:152423779C>T	ENST00000397345.3	-	114	18261	c.18059G>A	c.(18058-18060)aGt>aAt	p.S6020N	NEB_ENST00000172853.10_Missense_Mutation_p.S4319N|NEB_ENST00000604864.1_Missense_Mutation_p.S6020N|NEB_ENST00000409198.1_Missense_Mutation_p.S4319N|NEB_ENST00000603639.1_Missense_Mutation_p.S6020N|NEB_ENST00000427231.2_Missense_Mutation_p.S6020N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6028					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATCAATATCACTGACAAGGGT	0.433000													7	84					0	0	0.000157383	0	0
ROR1	4919	broad.mit.edu	37	1	64644176	64644176	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:64644176C>T	ENST00000371079.1	+	9	2827	c.2452C>T	c.(2452-2454)Ccc>Tcc	p.P818S	ROR1_ENST00000545203.1_Missense_Mutation_p.P269S	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	818	Pro-rich.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						GCGATTCATTCCCATCAATGG	0.527000													12	31					0	0	0.000978159	0	0
CTBP2	1488	broad.mit.edu	37	10	126715323	126715323	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:126715323G>A	ENST00000309035.6	-	1	1136	c.1006C>T	c.(1006-1008)Ctg>Ttg	p.L336L	CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000337195.5_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GCCTGGCCCAGGTTGGGTGCG	0.701000													5	19					0	0	0.000157383	0	0
GHR	2690	broad.mit.edu	37	5	42718806	42718806	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:42718806C>T	ENST00000230882.4	+	10	1387	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Silent_p.F377F|GHR_ENST00000537449.1_Silent_p.F212F	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	399					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGACTGATTTCAATGCCAATG	0.458000													12	55					0	0	0.000308642	0	0
TMCO5A	145942	broad.mit.edu	37	15	38229547	38229547	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:38229547G>A	ENST00000558158.1	+	5	419	c.264_splice	c.e5-1	p.E89_splice	TMCO5A_ENST00000319669.4_Splice_Site_p.E89_splice|TMCO5A_ENST00000559502.1_Splice_Site_p.E89_splice|TMCO5A_ENST00000540944.1_Splice_Site_p.E89_splice			Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	89						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						TCTCTCACAGGAAAGGAAGAA	0.438000													6	33					0	0	0.000274275	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058249	152058249	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:152058249C>T	ENST00000368806.1	-	3	1973	c.1909G>A	c.(1909-1911)Ggc>Agc	p.G637S		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	637							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTCCCTGGGCCTTGATTCTTG	0.542000													9	56					0	0	0.00185496	0	0
DNAH3	55567	broad.mit.edu	37	16	20996486	20996486	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:20996486G>A	ENST00000261383.3	-	48	7577	c.7578C>T	c.(7576-7578)atC>atT	p.I2526I	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2526	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCTTCTCCACGATGTCAGCCT	0.473000													10	42					0	0	0.000978159	0	0
BCAN	63827	broad.mit.edu	37	1	156621399	156621399	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:156621399C>T	ENST00000329117.4	+	7	1551	c.1215C>T	c.(1213-1215)atC>atT	p.I405I	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Silent_p.I405I	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	405	Glu-rich.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTGGGGCCATCTACTCCATCC	0.582000													19	40					0	0	0.00278032	0	0
CDHR3	222256	broad.mit.edu	37	7	105662885	105662885	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:105662885G>A	ENST00000542731.1	+	14	2175	c.2067G>A	c.(2065-2067)acG>acA	p.T689T	CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000478080.1_Silent_p.T601T|CDHR3_ENST00000317716.9_Silent_p.T689T|CDHR3_ENST00000343407.5_Intron			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	689	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TCATCACCACGACCCCCAGGG	0.517000													16	127					0	0	0.00278032	0	0
PTPRN2	5799	broad.mit.edu	37	7	157341643	157341643	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:157341643C>T	ENST00000389413.3	-	21	2989	c.2886G>A	c.(2884-2886)acG>acA	p.T962T	PTPRN2_ENST00000389416.4_Silent_p.T974T|PTPRN2_ENST00000389418.4_Silent_p.T991T|PTPRN2_ENST00000409483.1_Silent_p.T953T|PTPRN2_ENST00000404321.2_Silent_p.T1014T	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	991	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ACAGTACCTTCGTCTGGACCA	0.572000													12	58					0	0	0.00185496	0	0
ONECUT2	9480	broad.mit.edu	37	18	55143726	55143726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:55143726C>T	ENST00000491143.2	+	2	1318	c.1286C>T	c.(1285-1287)tCc>tTc	p.S429F		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	429					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CAGAAGAAGTCCCGCCTGGTG	0.517000													4	31					0	0	0.00024832	0	0
CUX2	23316	broad.mit.edu	37	12	111786014	111786014	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:111786014C>T	ENST00000261726.6	+	22	4500	c.4346C>T	c.(4345-4347)gCc>gTc	p.A1449V		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1449						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						CACCCCAGTGCCAAGGTGAAC	0.627000													14	76					0	0	0.000308642	0	0
ZNF229	7772	broad.mit.edu	37	19	44933267	44933267	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:44933267C>T	ENST00000291187.4	-	6	1993	c.1671G>A	c.(1669-1671)caG>caA	p.Q557Q	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Silent_p.Q563Q|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGTGGACCCTCTGATGGATGT	0.567000													6	43					0	0	0.00116845	0	0
SPTA1	6708	broad.mit.edu	37	1	158639557	158639557	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:158639557G>A	ENST00000368148.3	-	13	1799	c.1619C>T	c.(1618-1620)aCc>aTc	p.T540I	SPTA1_ENST00000368147.3_Missense_Mutation_p.T540I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	540					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)					AATCAATTTGGTTGCAGTCTT	0.413000													10	118					0	0	0.000442599	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186760670	186760670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:186760670C>T	ENST00000169298.3	+	4	853	c.179C>T	c.(178-180)tCc>tTc	p.S60F	ST6GAL1_ENST00000457772.2_Intron|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.S60F	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	60					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GGGTCTGATTCCCAGTCTGTA	0.527000													11	41					0	0	0.000978159	0	0
DDX3X	1654	broad.mit.edu	37	X	41196686	41196686	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:41196686C>A	ENST00000399959.2	+	2	926	c.71C>A	c.(70-72)tCa>tAa	p.S24*	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Nonsense_Mutation_p.S24*|DDX3X_ENST00000441189.2_Nonsense_Mutation_p.S24*|DDX3X_ENST00000542215.1_Nonsense_Mutation_p.S68*	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	24					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CTGAACTCTTCAGATAATCAG	0.408000										HNSCC(61;0.18)			30	61					2.04263e-09	8.94652e-09	0.000814825	1	0
MYO5B	4645	broad.mit.edu	37	18	47421394	47421394	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:47421394G>A	ENST00000285039.7	-	22	3261	c.2962C>T	c.(2962-2964)Ctg>Ttg	p.L988L	MYO5B_ENST00000324581.6_Silent_p.L129L	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	988					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCTGTGCGCAGGCTCTCCACC	0.612000													8	41					0	0	0.000274275	0	0
CSMD2	114784	broad.mit.edu	37	1	34035099	34035099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:34035099C>T	ENST00000373381.4	-	52	8182	c.8006G>A	c.(8005-8007)gGa>gAa	p.G2669E		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2671	Sushi 17.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGACAGTGTTCCGATGCGGTG	0.572000													4	25					0	0	0.000602214	0	0
SRSF12	135295	broad.mit.edu	37	6	89808325	89808325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:89808325C>T	ENST00000452027.2	-	5	951	c.758G>A	c.(757-759)cGa>cAa	p.R253Q		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	253	Arg/Ser-rich (RS domain).				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	nucleotide binding|RNA binding|RS domain binding|unfolded protein binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						ACGATAACTTCGAGATCTGGA	0.358000													14	102					0	0	0.000566183	0	0
MAP3K14	9020	broad.mit.edu	37	17	43364100	43364100	+	RNA	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:43364100G>A	ENST00000344686.2	-	0	955							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	p.L284L(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGTTTGCCCAGGAAGGACTCC	0.612000													4	12					0	0	0.00024832	0	0
HFE	3077	broad.mit.edu	37	6	26093145	26093145	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:26093145G>A	ENST00000357618.5	+	4	971	c.849G>A	c.(847-849)caG>caA	p.Q283Q	HFE_ENST00000352392.4_Intron|HFE_ENST00000470149.1_Silent_p.Q280Q|HFE_ENST00000397022.3_Silent_p.Q260Q|HFE_ENST00000488199.1_Silent_p.Q181Q|HFE_ENST00000309234.6_Silent_p.Q283Q|HFE_ENST00000461397.1_Silent_p.Q269Q|HFE_ENST00000349999.4_Silent_p.Q195Q|HFE_ENST00000317896.7_Silent_p.Q191Q|HFE_ENST00000353147.5_Silent_p.Q103Q|HFE_ENST00000336625.8_Silent_p.Q177Q	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	283	Alpha-3.|Ig-like C1-type.		Q -> P (in HFE; destabilizing effect on the tertiary structure of the protein; prevents the normal interaction between HFE and B2M and between HFE and TFRC; decreases the capacity of HFE to reduce transferrin-mediated iron uptake).		antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATACGTGCCAGGTGGAGCACC	0.547000									Hemochromatosis				4	39					0	0	0.00024832	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361478	105361478	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:105361478G>A	ENST00000297581.2	+	2	747	c.698G>A	c.(697-699)cGa>cAa	p.R233Q	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.R233Q	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	233					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											TTCATGAAGCGATTTTTGGGC	0.498000													9	85					0	0	0.000442599	0	0
UBR5	51366	broad.mit.edu	37	8	103271215	103271215	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:103271215G>A	ENST00000520539.1	-	57	8705	c.8099C>T	c.(8098-8100)tCa>tTa	p.S2700L	UBR5_ENST00000518205.1_Missense_Mutation_p.S428L|UBR5_ENST00000220959.4_Missense_Mutation_p.S2699L|UBR5_ENST00000521922.1_Missense_Mutation_p.S2693L	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2700	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGTCCTACCTGATTCATCATT	0.343000													12	45					0	0	0.00185496	0	0
MED12L	116931	broad.mit.edu	37	3	151131073	151131073	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:151131073G>A	ENST00000474524.1	+	40	6220	c.6182G>A	c.(6181-6183)aGa>aAa	p.R2061K	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2061	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGCAGCAGAGACTCCTCCAG	0.512000													5	49					0	0	0.00116845	0	0
GRM8	2918	broad.mit.edu	37	7	126883213	126883213	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:126883213G>A	ENST00000339582.2	-	2	854	c.46C>T	c.(46-48)Ctc>Ttc	p.L16F	GRM8_ENST00000358373.3_Missense_Mutation_p.L16F|GRM8_ENST00000405249.1_Missense_Mutation_p.L16F|GRM8_ENST00000444921.2_Missense_Mutation_p.L16F			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	16					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GCGGTCAAGAGGAAGAAACAA	0.478000										HNSCC(24;0.065)	OREG0003802	type=REGULATORY REGION|Gene=GRM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	52					0	0	0.00116845	0	0
SERPINA6	866	broad.mit.edu	37	14	94776090	94776090	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:94776090G>A	ENST00000341584.3	-	3	1013	c.867C>T	c.(865-867)tcC>tcT	p.S289S		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	289					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TCAGGCCTGCGGACCACCTGT	0.557000													5	49					0	0	0.00198382	0	0
DUXA	503835	broad.mit.edu	37	19	57670544	57670544	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:57670544C>T	ENST00000554048.2	-	3	282	c.283G>A	c.(283-285)Gag>Aag	p.E95K		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	95						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		CTTTGAAACTCCACACCAGGT	0.478000													8	58					0	0	0.000442599	0	0
DNAH3	55567	broad.mit.edu	37	16	20966243	20966243	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:20966243G>A	ENST00000261383.3	-	55	10962	c.10963C>T	c.(10963-10965)Cct>Tct	p.P3655S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3655	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAGAACACAGGATCTGAGATG	0.498000													19	122					0	0	0.00188189	0	0
ABCC8	6833	broad.mit.edu	37	11	17426146	17426146	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:17426146G>A	ENST00000302539.4	-	28	3598	c.3473C>T	c.(3472-3474)tCc>tTc	p.S1158F	ABCC8_ENST00000389817.3_Missense_Mutation_p.S1157F	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1157	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGTGACATAGGAGATGACGGC	0.617000													6	133					0	0	0.000157383	0	0
HRASLS5	117245	broad.mit.edu	37	11	63235936	63235936	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:63235936C>T	ENST00000540857.1	-	4	479	c.345_splice	c.e4-1	p.G116_splice	HRASLS5_ENST00000301790.4_Splice_Site_p.G126_splice|HRASLS5_ENST00000539221.1_Splice_Site_p.G126_splice	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	126										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TCTTGGTTTTCCCTATAATGG	0.453000													9	82					0	0	0.000274275	0	0
TPP2	7174	broad.mit.edu	37	13	103271110	103271110	+	Silent	SNP	G	G	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:103271110G>T	ENST00000376052.3	+	5	550	c.534G>T	c.(532-534)gtG>gtT	p.V178V	TPP2_ENST00000376065.4_Silent_p.V178V			P29144	TPP2_HUMAN	tripeptidyl peptidase II	178					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAAGTCAAGTGGAATTGCTAA	0.378000													6	89					0.00198382	0.00856191	0.00198382	1	0
CAPN13	92291	broad.mit.edu	37	2	30976012	30976012	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:30976012C>T	ENST00000295055.8	-	10	1170	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	CAPN13_ENST00000534090.2_Missense_Mutation_p.E332K	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	332	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					ATTGGAATTTCGCTACATATA	0.423000													14	137					0	0	0.000308642	0	0
CD163L1	283316	broad.mit.edu	37	12	7559219	7559219	+	Silent	SNP	G	G	A	rs143012538		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:7559219G>A	ENST00000313599.3	-	5	1053	c.996C>T	c.(994-996)tcC>tcT	p.S332S	CD163L1_ENST00000416109.2_Silent_p.S342S|CD163L1_ENST00000396630.1_Silent_p.S332S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	332	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ATTCATTACCGGAGCAGGAGA	0.473000													12	49					0	0	0.00136819	0	0
GJA10	84694	broad.mit.edu	37	6	90604655	90604655	+	Silent	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:90604655T>C	ENST00000369352.1	+	1	468	c.468T>C	c.(466-468)acT>acC	p.T156T		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	156					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TGCTGCGTACTTATGTCTTAC	0.438000													6	84					0	0	0.00116845	0	0
CDH26	60437	broad.mit.edu	37	20	58547080	58547080	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:58547080G>A	ENST00000348616.4	+	4	595	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	CDH26_ENST00000244047.5_Missense_Mutation_p.E99K	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	99	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TGGTGTGGATGAATATCCAGA	0.398000													27	80					0	0	0.00178596	0	0
UNC13A	23025	broad.mit.edu	37	19	17720794	17720794	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:17720794G>A	ENST00000428389.2	-	44	5029	c.5030C>T	c.(5029-5031)tCc>tTc	p.S1677F	UNC13A_ENST00000550896.1_Missense_Mutation_p.S1562F|UNC13A_ENST00000552293.1_Missense_Mutation_p.S1583F|UNC13A_ENST00000551649.1_Missense_Mutation_p.S1608F|UNC13A_ENST00000519716.2_Missense_Mutation_p.S1589F|UNC13A_ENST00000252773.7_Missense_Mutation_p.S1589F			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1589					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						ATTGTTCTTGGATTTGGTCGC	0.547000													7	76					0	0	0.000157383	0	0
SLC35G1	159371	broad.mit.edu	37	10	95660969	95660969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:95660969G>A	ENST00000371408.3	+	3	878	c.817G>A	c.(817-819)Gga>Aga	p.G273R	SLC35G1_ENST00000427197.1_Missense_Mutation_p.G274R			Q2M3R5	TMM20_HUMAN	solute carrier family 35, member G1	274	DUF6 2.					integral to membrane											CTCTGTATTAGGAGAGTGGAG	0.413000													4	37					0	0	0.00024832	0	0
CD81-AS1	101927682	broad.mit.edu	37	11	2356766	2356766	+	RNA	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:2356766G>A	ENST00000413483.1	-	0	407				RPL26P30_ENST00000602923.1_RNA																							CTGTACACCTGGATTACCTTG	0.542000													14	86					0	0	0.00152264	0	0
OR10A2	341276	broad.mit.edu	37	11	6891510	6891510	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:6891510C>T	ENST00000307322.4	+	1	587	c.525C>T	c.(523-525)gtC>gtT	p.V175V		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGAGGCTGGTCTGTGCAGACA	0.507000													6	107					0	0	0.000157383	0	0
TMEM63C	57156	broad.mit.edu	37	14	77710796	77710796	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:77710796C>T	ENST00000298351.4	+	16	1590	c.1446C>T	c.(1444-1446)acC>acT	p.T482T		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	482						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCCACTGGACCAGGTGACCTG	0.617000													6	35					0	0	0.00116845	0	0
CERKL	375298	broad.mit.edu	37	2	182430228	182430228	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:182430228C>T	ENST00000409440.3	-	4	655	c.555G>A	c.(553-555)cgG>cgA	p.R185R	CERKL_ENST00000410087.3_Intron|CERKL_ENST00000479558.1_Intron|CERKL_ENST00000374970.2_Intron|CERKL_ENST00000374969.2_Intron|CERKL_ENST00000339098.5_Silent_p.R229R	NM_001160277.1	NP_001153749.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	229	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ACAATGGTTTCCGATGCCCAC	0.313000													12	47					0	0	0.00244969	0	0
MYO10	4651	broad.mit.edu	37	5	16779670	16779670	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:16779670G>A	ENST00000513610.1	-	9	1368	c.914C>T	c.(913-915)tCc>tTc	p.S305F		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	305	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TTCCCTAAAGGATTCCTGGTC	0.323000													5	43					0	0	0.00116845	0	0
RELN	5649	broad.mit.edu	37	7	103159895	103159895	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:103159895G>A	ENST00000428762.1	-	49	7896	c.7737C>T	c.(7735-7737)ttC>ttT	p.F2579F	RELN_ENST00000343529.5_Silent_p.F2579F|RELN_ENST00000424685.2_Silent_p.F2579F	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2579					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACCCATACATGAAGTAAAATT	0.378000													11	50					0	0	0.00136819	0	0
SMG7	9887	broad.mit.edu	37	1	183519946	183519946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:183519946C>T	ENST00000367537.3	+	22	3338	c.3143C>T	c.(3142-3144)tCt>tTt	p.S1048F	SMG7_ENST00000515829.2_Missense_Mutation_p.S969F|SMG7_ENST00000508461.1_Missense_Mutation_p.S1023F|SMG7_ENST00000347615.2_Missense_Mutation_p.S1015F|SMG7_ENST00000507469.1_Missense_Mutation_p.S1019F|SMG7_ENST00000456731.2_Missense_Mutation_p.S927F			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	1015					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CTACCCAGCTCTCCTCCAACA	0.438000													14	62					0	0	0.000566183	0	0
NPIPB4	440345	broad.mit.edu	37	16	21854863	21854863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:21854863G>A	ENST00000415645.2	-	4	428	c.389C>T	c.(388-390)tCt>tTt	p.S130F	NPIPB4_ENST00000357370.5_Missense_Mutation_p.S130F|NPIPB4_ENST00000539318.1_5'UTR|NPIPB4_ENST00000451409.1_5'UTR					nuclear pore complex interacting protein family, member B4																		TCGAAAGGAAGAAACTCTTTT	0.433000													17	285					0	0	0.000958276	0	0
BHMT2	23743	broad.mit.edu	37	5	78373364	78373364	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:78373364C>T	ENST00000255192.3	+	2	161	c.95C>T	c.(94-96)aCt>aTt	p.T32I	BHMT2_ENST00000521567.1_Missense_Mutation_p.T32I|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	32	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	TTTCTCATTACTCTGGAGAAG	0.522000													15	124					0	0	0.000308642	0	0
SPG20	23111	broad.mit.edu	37	13	36909172	36909172	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:36909172G>A	ENST00000451493.1	-	2	1013	c.796C>T	c.(796-798)Ccc>Tcc	p.P266S	SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000438666.2_Missense_Mutation_p.P266S|SPG20_ENST00000355182.4_Missense_Mutation_p.P266S|SPG20_ENST00000494062.2_Missense_Mutation_p.P266S	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	266					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		AGAAACCCGGGAGGACGGTTT	0.388000													9	109					0	0	0.00136819	0	0
MAMDC2	256691	broad.mit.edu	37	9	72659125	72659125	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:72659125G>A	ENST00000377182.4	+	1	629	c.12G>A	c.(10-12)agG>agA	p.R4R		NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	4						endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TGCTGTTAAGGGGCGTCCTCC	0.677000													5	12					0	0	0.00198382	0	0
TP53	7157	broad.mit.edu	37	17	7578479	7578479	+	Missense_Mutation	SNP	G	G	A	rs28934874		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:7578479G>A	ENST00000420246.2	-	5	583	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TP53_ENST00000269305.4_Missense_Mutation_p.P151S|TP53_ENST00000455263.2_Missense_Mutation_p.P151S|TP53_ENST00000445888.2_Missense_Mutation_p.P151S|TP53_ENST00000359597.4_Missense_Mutation_p.P151S|TP53_ENST00000413465.2_Missense_Mutation_p.P151S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (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.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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)		CCGGGCGGGGGTGTGGAATCA	0.612000		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	25					0	0	0.000157383	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129927071	129927071	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:129927071A>C	ENST00000368149.2	-	10	1404	c.1316T>G	c.(1315-1317)tTg>tGg	p.L439W		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	439	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		AAGAAGGTTCAAAGCCTGTAG	0.363000													10	120					0	0	0.00136819	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921378	12921378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:12921378C>T	ENST00000240189.2	+	4	1256	c.1169C>T	c.(1168-1170)tCt>tTt	p.S390F		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	390										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AATTGCATGTCTATTGACGCC	0.562000													9	80					0	0	0.000673444	0	0
AMPH	273	broad.mit.edu	37	7	38433665	38433665	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:38433665G>A	ENST00000356264.2	-	18	1763	c.1548C>T	c.(1546-1548)acC>acT	p.T516T	AMPH_ENST00000428293.2_Silent_p.T474T|AMPH_ENST00000325590.5_Silent_p.T474T|AMPH_ENST00000471913.1_5'UTR	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	516					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CACCCTCAGTGGTTTCAGTTC	0.602000													16	85					0	0	0.000566183	0	0
KCNK18	338567	broad.mit.edu	37	10	118969155	118969155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:118969155G>A	ENST00000334549.1	+	3	500	c.500G>A	c.(499-501)cGa>cAa	p.R167Q		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	167						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		AATCGGTTCCGAAAATTCCCT	0.507000													7	98					0	0	0.000157383	0	0
EPHB6	2051	broad.mit.edu	37	7	142565365	142565365	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:142565365G>A	ENST00000392957.2	+	12	2537	c.1750G>A	c.(1750-1752)Gag>Aag	p.E584K	EPHB6_ENST00000442129.1_Missense_Mutation_p.E584K|EPHB6_ENST00000411471.2_Missense_Mutation_p.E307K	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	584						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TCCCCCAGGGGAGCTGTCTTC	0.627000													4	25					0	0	0.00116845	0	0
NCOA6	23054	broad.mit.edu	37	20	33364186	33364186	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:33364186G>A	ENST00000374796.2	-	5	2871	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S	NCOA6_ENST00000359003.2_Missense_Mutation_p.P101S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	101	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GCTTCCCGGGGGATGTTGAAT	0.468000													7	55					0	0	0.000157383	0	0
COL5A1	1289	broad.mit.edu	37	9	137674560	137674560	+	Silent	SNP	T	T	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:137674560T>G	ENST00000371817.3	+	29	2892	c.2478T>G	c.(2476-2478)ggT>ggG	p.G826G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	826	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)		GCATCAAGGGTGATCGGGTGA	0.592000													8	104					0	0	0.000442599	0	0
GREB1	9687	broad.mit.edu	37	2	11706683	11706683	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:11706683C>T	ENST00000381486.2	+	4	655	c.355C>T	c.(355-357)Ctc>Ttc	p.L119F	GREB1_ENST00000263834.5_Missense_Mutation_p.L119F|GREB1_ENST00000381483.2_Missense_Mutation_p.L119F|GREB1_ENST00000389825.3_Missense_Mutation_p.L9F|GREB1_ENST00000234142.5_Missense_Mutation_p.L119F	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	119						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGGCTTTCTCCTCGTGGGGGT	0.602000													9	41					0	0	0.000442599	0	0
TNNI3K	51086	broad.mit.edu	37	1	74957900	74957900	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:74957900C>T	ENST00000370891.2	+	25	2620	c.2604C>T	c.(2602-2604)ttC>ttT	p.F868F	TNNI3K_ENST00000326637.3_Silent_p.F767F|FPGT-TNNI3K_ENST00000557284.1_Silent_p.F868F|LRRC53_ENST00000294635.4_Intron	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase									p.F767F(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						GAAGTCGTTTCGAATTGGAAT	0.453000													9	81					0	0	0.000673444	0	0
MOV10L1	54456	broad.mit.edu	37	22	50530480	50530480	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:50530480G>A	ENST00000262794.5	+	2	231	c.148G>A	c.(148-150)Gat>Aat	p.D50N	MOV10L1_ENST00000545383.1_Missense_Mutation_p.D50N|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000475190.1_3'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.D50N|MOV10L1_ENST00000540615.1_Missense_Mutation_p.D30N	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	50					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GTACTGCAGCGATTATGGCAT	0.448000													12	91					0	0	0.00185496	0	0
OR13J1	392309	broad.mit.edu	37	9	35870314	35870314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:35870314G>A	ENST00000377981.2	-	1	147	c.85C>T	c.(85-87)Cct>Tct	p.P29S		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GAGCACAGAGGGAAGAGCAGA	0.552000													6	23					0	0	0.000157383	0	0
FCGBP	8857	broad.mit.edu	37	19	40411886	40411886	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:40411886C>T	ENST00000221347.6	-	7	3749	c.3742G>A	c.(3742-3744)Ggc>Agc	p.G1248S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1248						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTGCTAGAGCCCACGGCCACA	0.672000													7	37					0	0	0.000673444	0	0
BRD2	6046	broad.mit.edu	37	6	32948364	32948364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:32948364G>A	ENST00000395289.2	+	14	3981	c.2380G>A	c.(2380-2382)Gag>Aag	p.E794K	BRD2_ENST00000443797.2_Missense_Mutation_p.E639K|BRD2_ENST00000449085.2_Missense_Mutation_p.E712K|BRD2_ENST00000395287.1_Missense_Mutation_p.E794K|BRD2_ENST00000374825.4_Missense_Mutation_p.E759K|BRD2_ENST00000374831.4_Missense_Mutation_p.E759K			P25440	BRD2_HUMAN	bromodomain containing 2	759	ET.|Ser-rich.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TGCAGCGAATGAGAAAACAGA	0.468000													6	57					0	0	0.000157383	0	0
CTNNA3	29119	broad.mit.edu	37	10	69407235	69407235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:69407235G>A	ENST00000433211.1	-	2	211	c.37C>T	c.(37-39)Cct>Tct	p.P13S	CTNNA3_ENST00000545309.1_Missense_Mutation_p.P13S|CTNNA3_ENST00000373744.4_Missense_Mutation_p.P13S	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	13					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGATCCTGAGGATCGATATTC	0.388000													9	116					0	0	0.000673444	0	0
MYO7A	4647	broad.mit.edu	37	11	76922935	76922935	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:76922935C>T	ENST00000409709.3	+	46	6579	c.6307C>T	c.(6307-6309)Ctc>Ttc	p.L2103F	MYO7A_ENST00000409619.2_Missense_Mutation_p.L2054F|MYO7A_ENST00000458637.2_Missense_Mutation_p.L2065F|MYO7A_ENST00000605744.1_3'UTR	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2103	FERM 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTTCCTGAAGCTCATCTTCAA	0.577000													7	32					0	0	0.000274275	0	0
VWA3B	200403	broad.mit.edu	37	2	98809361	98809361	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:98809361G>A	ENST00000477737.1	+	11	1671	c.1466_splice	c.e11-1	p.R489_splice	VWA3B_ENST00000435344.1_Splice_Site_p.R489_splice|VWA3B_ENST00000451075.2_Splice_Site_p.R339_splice	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	489										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCCTGCCTAGGATTAAATGGC	0.458000													11	89					0	0	0.00244969	0	0
FAT4	79633	broad.mit.edu	37	4	126240026	126240026	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:126240026G>A	ENST00000394329.3	+	1	2473	c.2460G>A	c.(2458-2460)atG>atA	p.M820I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	820	Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CATCCACCATGGATCTCAATT	0.463000													12	67					0	0	0.00136819	0	0
LCLAT1	253558	broad.mit.edu	37	2	30748456	30748456	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:30748456C>T	ENST00000309052.4	+	3	323	c.114C>T	c.(112-114)atC>atT	p.I38I	LCLAT1_ENST00000359433.1_Silent_p.I38I|LCLAT1_ENST00000540623.1_5'UTR|LCLAT1_ENST00000379509.3_5'UTR|LCLAT1_ENST00000491680.2_Intron|LCLAT1_ENST00000319406.4_Silent_p.I38I	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	38					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						CTTTCAGAATCATGGTGTCAT	0.333000													8	123					0	0	0.000673444	0	0
ACAN	176	broad.mit.edu	37	15	89401743	89401743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:89401743G>A	ENST00000439576.2	+	12	6301	c.5927G>A	c.(5926-5928)gGg>gAg	p.G1976E	ACAN_ENST00000561243.1_Missense_Mutation_p.G1976E|ACAN_ENST00000352105.7_Missense_Mutation_p.G1976E|ACAN_ENST00000559004.1_Missense_Mutation_p.G1976E	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1976					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GACATGTCTGGGGAGCATTCT	0.542000													12	44					0	0	0.000978159	0	0
DICER1	23405	broad.mit.edu	37	14	95593075	95593075	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:95593075G>A	ENST00000526495.1	-	9	1036	c.745C>T	c.(745-747)Cag>Tag	p.Q249*	DICER1_ENST00000541352.1_Nonsense_Mutation_p.Q249*|DICER1_ENST00000393063.1_Nonsense_Mutation_p.Q249*|DICER1_ENST00000343455.3_Nonsense_Mutation_p.Q249*|DICER1_ENST00000527414.1_Nonsense_Mutation_p.Q249*			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	249					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TCACATGGCTGAGAAGTATAC	0.323000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				20	153					0	0	0.00278032	0	0
GAD2	2572	broad.mit.edu	37	10	26589885	26589885	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:26589885T>A	ENST00000376261.3	+	16	2256	c.1753T>A	c.(1753-1755)Tta>Ata	p.L585I	GAD2_ENST00000259271.3_Missense_Mutation_p.L585I	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	585					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TGGACAAGATTTATAATAACC	0.398000													7	69					0	0	0.000274275	0	0
CACNA1E	777	broad.mit.edu	37	1	181686297	181686297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:181686297G>A	ENST00000526775.1	+	11	1549	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	CACNA1E_ENST00000367567.4_Missense_Mutation_p.E69K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E462K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E413K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E413K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E462K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E462K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	462					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCGGCACAAGGAAAGGCTTCT	0.512000													13	75					0	0	0.00185496	0	0
CREG1	8804	broad.mit.edu	37	1	167517280	167517280	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:167517280G>T	ENST00000370509.4	-	2	458	c.433C>A	c.(433-435)Ccc>Acc	p.P145T		NM_003851.2	NP_003842.1	O75629	CREG1_HUMAN	cellular repressor of E1A-stimulated genes 1	145					cell proliferation|multicellular organismal development|regulation of growth|regulation of transcription from RNA polymerase II promoter	extracellular region	FMN binding|transcription corepressor activity										ACACAAAGGGGACTTTGTGGA	0.418000													8	58					1.12685e-05	4.91322e-05	0.000274275	1	0
SPEF2	79925	broad.mit.edu	37	5	35807353	35807353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:35807353C>T	ENST00000440995.2	+	36	5362	c.5362C>T	c.(5362-5364)Cct>Tct	p.P1788S	SPEF2_ENST00000303129.4_Missense_Mutation_p.P590S|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.P1793S			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1793					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTATAAGTTTCCTGTGAGTAT	0.423000													14	127					0	0	0.00074312	0	0
SLC25A31	83447	broad.mit.edu	37	4	128689927	128689927	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:128689927G>A	ENST00000281154.4	+	5	822	c.654G>A	c.(652-654)aaG>aaA	p.K218K		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	218					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity	p.K218K(1)		NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						CAAAGCCAAAGAAAACTCCAT	0.308000													8	58					0	0	0.000157383	0	0
SYBU	55638	broad.mit.edu	37	8	110631156	110631156	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:110631156C>T	ENST00000399066.3	-	2	1060	c.333G>A	c.(331-333)aaG>aaA	p.K111K	SYBU_ENST00000408889.3_5'UTR|SYBU_ENST00000276646.9_Silent_p.K114K|SYBU_ENST00000440310.1_Silent_p.K114K|SYBU_ENST00000533065.1_5'UTR|SYBU_ENST00000533171.1_Silent_p.K114K|SYBU_ENST00000422135.1_Silent_p.K114K|SYBU_ENST00000433638.1_Silent_p.K114K|SYBU_ENST00000419099.1_Silent_p.K113K|SYBU_ENST00000408908.2_Silent_p.K114K|SYBU_ENST00000532779.1_Silent_p.K46K|SYBU_ENST00000528647.1_Silent_p.K113K|SYBU_ENST00000446070.2_Silent_p.K113K|SYBU_ENST00000424158.2_Silent_p.K119K|SYBU_ENST00000533895.1_Silent_p.K113K|SYBU_ENST00000528331.1_5'UTR	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	114	Ser-rich.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TCGTGCATTTCTTTCTGGTGA	0.483000													26	149					0	0	0.00106085	0	0
INSL4	3641	broad.mit.edu	37	9	5233821	5233821	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:5233821C>T	ENST00000239316.4	+	2	469	c.364C>T	c.(364-366)Cca>Tca	p.P122S		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	122					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		CAGATTTGATCCATTCTGTTG	0.383000													8	28					0	0	0.000274275	0	0
PODXL	5420	broad.mit.edu	37	7	131195648	131195648	+	Silent	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:131195648A>G	ENST00000541194.1	-	2	908	c.651T>C	c.(649-651)agT>agC	p.S217S	PODXL_ENST00000378555.3_Silent_p.S215S|PODXL_ENST00000537928.1_Silent_p.S215S|PODXL_ENST00000322985.9_Silent_p.S215S	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	215	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CAGTGCTTGAACTGCTTGAAA	0.517000													7	47					0	0	0.000157383	0	0
BCORL1	63035	broad.mit.edu	37	X	129149395	129149395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:129149395G>A	ENST00000540052.1	+	3	2691	c.2647G>A	c.(2647-2649)Gga>Aga	p.G883R	BCORL1_ENST00000218147.7_Missense_Mutation_p.G883R|BCORL1_ENST00000359304.2_Missense_Mutation_p.G883R|BCORL1_ENST00000303743.5_Missense_Mutation_p.G883R	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	883					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGCCGTGCACGGACTTCCTGA	0.607000													6	12					0	0	0.00198382	0	0
PTPN22	26191	broad.mit.edu	37	1	114394720	114394720	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:114394720G>A	ENST00000359785.5	-	10	892	c.757C>T	c.(757-759)Cct>Tct	p.P253S	PTPN22_ENST00000528414.1_Intron|PTPN22_ENST00000525799.1_Missense_Mutation_p.P126S|PTPN22_ENST00000538253.1_Missense_Mutation_p.P9S|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.P253S	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	253	Tyrosine-protein phosphatase.				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGTTCTCAGGAATTATCTAT	0.353000													7	45					0	0	0.00198382	0	0
BRAF	673	broad.mit.edu	37	7	140453134	140453134	+	Missense_Mutation	SNP	T	T	C	rs121913377		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:140453134T>C	ENST00000288602.6	-	15	1861	c.1801A>G	c.(1801-1803)Aaa>Gaa	p.K601E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	601	Protein kinase.		K -> E (in colorectal cancer).|K -> Q (in CFC syndrome).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.K601E(40)|p.V600_K601>E(12)|p.T599_R603>I(2)|p.K601del(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CATCGAGATTTCACTGTAGCT	0.368000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				16	55					0	0	0.00152264	0	0
OR10J1	26476	broad.mit.edu	37	1	159410383	159410383	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:159410383G>A	ENST00000423932.3	+	1	872	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	279					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GAACACCAGAGAACATGACCA	0.512000													13	30					0	0	0.00185496	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317559	30317559	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:30317559C>T	ENST00000375377.1	-	3	1619	c.1518G>A	c.(1516-1518)ggG>ggA	p.G506G		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	506								p.G506G(1)|p.G506E(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TTTCCCCATCCCCGGGGGGCT	0.642000													8	63					0	0	0.000673444	0	0
APOBR	55911	broad.mit.edu	37	16	28507536	28507536	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:28507536G>A	ENST00000564831.1	+	2	1207	c.1174G>A	c.(1174-1176)Gga>Aga	p.G392R	APOBR_ENST00000431282.1_Missense_Mutation_p.G383R|APOBR_ENST00000328423.5_Missense_Mutation_p.G383R	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	383	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GACAGAATATGGAGCAGTCCC	0.607000													6	34					0	0	0.00116845	0	0
BEND2	139105	broad.mit.edu	37	X	18195712	18195712	+	Missense_Mutation	SNP	G	G	T	rs139599869		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:18195712G>T	ENST00000380033.4	-	10	1739	c.1607C>A	c.(1606-1608)cCg>cAg	p.P536Q	BEND2_ENST00000380030.3_Missense_Mutation_p.P445Q	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	536	BEN 1.							p.P536Q(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CATTTTGTTCGGGTCGAGGGA	0.388000													8	234					3.86212e-05	0.000168255	0.000673444	1	0
PRRT1	80863	broad.mit.edu	37	6	32118227	32118227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:32118227G>A	ENST00000211413.5	-	2	600	c.476C>T	c.(475-477)cCg>cTg	p.P159L	PRRT1_ENST00000375152.2_Missense_Mutation_p.P78L|PRRT1_ENST00000375150.2_Missense_Mutation_p.P78L	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	159					response to biotic stimulus	integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GCCCCCCAGCGGCAGCGTGCC	0.756000													4	11					0	0	0.00116845	0	0
SPHKAP	80309	broad.mit.edu	37	2	228855857	228855857	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:228855857C>T	ENST00000392056.3	-	11	4864	c.4818G>A	c.(4816-4818)agG>agA	p.R1606R	SPHKAP_ENST00000344657.5_Silent_p.R1577R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1606						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCAGCAGGCTCCTCTGGGGGC	0.582000													5	21					0	0	0.000602214	0	0
NRP2	8828	broad.mit.edu	37	2	206659665	206659665	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:206659665C>T	ENST00000360409.3	+	17	3470	c.2679C>T	c.(2677-2679)tcC>tcT	p.S893S	NRP2_ENST00000540841.1_Silent_p.S871S|NRP2_ENST00000357785.5_Silent_p.S888S|NRP2_ENST00000412873.2_Silent_p.S871S|NRP2_ENST00000540178.1_Silent_p.S888S	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	893					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GCACCTGTTCCTACTCGGGCC	0.572000													6	43					0	0	0.00116845	0	0
DOCK10	55619	broad.mit.edu	37	2	225729299	225729299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:225729299G>A	ENST00000409592.3	-	13	1668	c.1555C>T	c.(1555-1557)Cct>Tct	p.P519S	DOCK10_ENST00000258390.7_Missense_Mutation_p.P525S			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	525							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTAATATAAGGTTCGGCACCA	0.368000													7	32					0	0	0.00198382	0	0
PGC	5225	broad.mit.edu	37	6	41704631	41704631	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:41704631C>T	ENST00000373025.3	-	9	1188	c.1126G>A	c.(1126-1128)Gac>Aac	p.D376N		NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	376					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TTGCCCAAGTCGTAGACGGAA	0.617000													6	84					0	0	0.00198382	0	0
C20orf26	26074	broad.mit.edu	37	20	20056178	20056178	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:20056178G>A	ENST00000245957.5	+	6	561	c.485G>A	c.(484-486)tGt>tAt	p.C162Y	C20orf26_ENST00000451767.2_Missense_Mutation_p.C162Y|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.C162Y	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	162										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AACATCCCGTGTCTGACGTAT	0.438000													23	128					0	0	0.000878237	0	0
IQGAP1	8826	broad.mit.edu	37	15	90984747	90984747	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:90984747C>T	ENST00000268182.5	+	8	783	c.659C>T	c.(658-660)gCt>gTt	p.A220V	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	220					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GTACATGCTGCTGTTATTGCT	0.353000													8	70					0	0	0.000673444	0	0
ZNF560	147741	broad.mit.edu	37	19	9577554	9577554	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9577554C>T	ENST00000301480.4	-	10	2282	c.2069G>A	c.(2068-2070)gGa>gAa	p.G690E		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	690					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AAAGGAATTTCCACATGCGTT	0.373000													17	141					0	0	0.00152264	0	0
TAS1R2	80834	broad.mit.edu	37	1	19168344	19168344	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:19168344G>A	ENST00000375371.3	-	5	1491	c.1470C>T	c.(1468-1470)atC>atT	p.I490I		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	490					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGGACATAGGGATCTGGAGGG	0.592000													10	63					0	0	0.00185496	0	0
MXRA5	25878	broad.mit.edu	37	X	3228260	3228260	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:3228260G>A	ENST00000217939.6	-	7	8138	c.7984C>T	c.(7984-7986)Ccc>Tcc	p.P2662S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2662	Ig-like C2-type 11.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCAGCCCCGGGAGGGGTGCAG	0.592000													12	19					0	0	0.00185496	0	0
KRT39	390792	broad.mit.edu	37	17	39115106	39115106	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:39115106G>A	ENST00000355612.2	-	7	1258	c.1223C>T	c.(1222-1224)cCc>cTc	p.P408L	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	408	Tail.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				TGGGTAACAGGGACGCCTAAG	0.478000													11	99					0	0	0.00244969	0	0
MYH3	4621	broad.mit.edu	37	17	10533710	10533710	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:10533710C>T	ENST00000583535.1	-	37	5439	c.5352G>A	c.(5350-5352)aaG>aaA	p.K1784K	MYH3_ENST00000226209.7_Silent_p.K1784K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1784					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CCAGGTTCTTCTTCATCCGCT	0.577000													7	83					0	0	0.000157383	0	0
FGA	2243	broad.mit.edu	37	4	155505422	155505422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:155505422C>T	ENST00000302053.3	-	6	2533	c.2455G>A	c.(2455-2457)Gga>Aga	p.G819R		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	819	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TAGTAGATTCCATTGAGATTG	0.493000													7	77					0	0	0.000274275	0	0
CD101	9398	broad.mit.edu	37	1	117576597	117576597	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:117576597G>A	ENST00000256652.4	+	9	2998	c.2940G>A	c.(2938-2940)aaG>aaA	p.K980K	CD101_ENST00000467588.1_3'UTR|RP11-27K13.3_ENST00000445523.1_RNA|CD101_ENST00000369470.1_Silent_p.K980K	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	980					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TATACTGGAAGGCCAGGAAGT	0.522000													15	77					0	0	0.000422831	0	0
ZNF208	7757	broad.mit.edu	37	19	22170085	22170085	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:22170085G>A	ENST00000397126.4	-	3	307	c.159C>T	c.(157-159)atC>atT	p.I53I	ZNF208_ENST00000601773.1_Silent_p.I53I|ZNF208_ENST00000597040.1_Silent_p.I21I|ZNF208_ENST00000599916.1_Silent_p.I53I	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)				CCAGAAAAATGATCAGGTCTG	0.403000													8	36					0	0	0.000442599	0	0
CD86	942	broad.mit.edu	37	3	121825261	121825261	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:121825261C>T	ENST00000330540.2	+	4	733	c.617C>T	c.(616-618)tCa>tTa	p.S206L	CD86_ENST00000264468.5_Intron|CD86_ENST00000493101.1_Missense_Mutation_p.S94L|CD86_ENST00000469710.1_Missense_Mutation_p.S124L|CD86_ENST00000393627.2_Missense_Mutation_p.S200L	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	206	Ig-like C2-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TTGTCTGTTTCATTCCCTGAT	0.393000													11	137					0	0	0.000978159	0	0
SALL4	57167	broad.mit.edu	37	20	50407914	50407914	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:50407914C>T	ENST00000217086.4	-	2	1219	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Missense_Mutation_p.D370N	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	370					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGTTTGACATCCACCGCGGAG	0.567000													7	65					0	0	0.000442599	0	0
MUC16	94025	broad.mit.edu	37	19	9088834	9088834	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9088834G>A	ENST00000397910.4	-	1	3184	c.2981C>T	c.(2980-2982)gCt>gTt	p.A994V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	994	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						CATTACAGTAGCAGAGAGAGA	0.478000													34	158					0	0	0.000953801	0	0
ZBED6CL	113763	broad.mit.edu	37	7	150027532	150027532	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:150027532G>A	ENST00000343855.4	+	1	595	c.39G>A	c.(37-39)ctG>ctA	p.L13L	LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000493307.1_Intron	NM_138434.2	NP_612443.1			ZBED6 C-terminal like																		AGGCCTCTCTGAGCCAGGTGC	0.642000													25	86					0	0	0.00178596	0	0
ITGB3BP	23421	broad.mit.edu	37	1	63955869	63955869	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:63955869G>A	ENST00000371092.3	-	4	246	c.186C>T	c.(184-186)atC>atT	p.I62I	ITGB3BP_ENST00000283568.8_Silent_p.I23I|ITGB3BP_ENST00000271002.10_Silent_p.I23I	NM_001206739.1	NP_001193668.1	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)	23					apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						TCTTCCTTGTGATTTTTGAAG	0.299000													7	61					0	0	0.000442599	0	0
GUCY2F	2986	broad.mit.edu	37	X	108696822	108696822	+	Silent	SNP	G	G	A	rs55975687	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:108696822G>A	ENST00000218006.2	-	4	1590	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	433					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GGGTCCCTCCGAAACGTAGCA	0.488000													8	13					0	0	0.000442599	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739157	15739157	+	RNA	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:15739157G>A	ENST00000441682.2	+	0	1222							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GCCTGAAGGAGAGCCTGCGGT	0.617000													5	75					0	0	0.00198382	0	0
CASS4	57091	broad.mit.edu	37	20	55012399	55012399	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:55012399G>A	ENST00000371336.3	+	2	417	c.216G>A	c.(214-216)acG>acA	p.T72T	CASS4_ENST00000360314.3_Silent_p.T72T|CASS4_ENST00000434344.1_Silent_p.T72T	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	72	SH3.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AAATCCTCACGGAGGTCGCTG	0.627000													9	21					0	0	0.000442599	0	0
PLCE1	51196	broad.mit.edu	37	10	96073091	96073091	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:96073091C>T	ENST00000260766.3	+	28	6718	c.6084C>T	c.(6082-6084)acC>acT	p.T2028T	PLCE1_ENST00000371375.1_Silent_p.T1720T|PLCE1_ENST00000371380.2_Silent_p.T2028T|PLCE1_ENST00000371385.3_Silent_p.T1720T	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2028	Ras-associating 1.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGCCCTTTACCGTTTTCACTA	0.463000													10	96					0	0	0.00136819	0	0
MX2	4600	broad.mit.edu	37	21	42775241	42775241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:42775241G>A	ENST00000330714.3	+	12	1805	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K		NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	541					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				ACATTTTGGCGAATTTTTCAA	0.383000													6	53					0	0	0.000274275	0	0
ENPEP	2028	broad.mit.edu	37	4	111397722	111397722	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:111397722C>T	ENST00000265162.5	+	1	494	c.152C>T	c.(151-153)cCg>cTg	p.P51L		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	51					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GACGGCGGGCCGGGCACTGCG	0.647000													12	82					0	0	0.000308642	0	0
OR2T34	127068	broad.mit.edu	37	1	248737464	248737464	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:248737464G>A	ENST00000328782.2	-	1	616	c.595C>T	c.(595-597)Ctc>Ttc	p.L199F		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCTTATAGAGGGAGACGTCA	0.517000													8	106					0	0	0.00136819	0	0
PNISR	25957	broad.mit.edu	37	6	99848995	99848995	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:99848995G>A	ENST00000369239.5	-	12	2043	c.1839C>T	c.(1837-1839)tcC>tcT	p.S613S	PNISR_ENST00000438806.1_Silent_p.S613S	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	613						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						GTCTCTCTCGGGAAGGACTCC	0.433000													5	51					0	0	0.00116845	0	0
COL9A1	1297	broad.mit.edu	37	6	70948986	70948986	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:70948986C>T	ENST00000357250.6	-	33	2241	c.2083G>A	c.(2083-2085)Gat>Aat	p.D695N	COL9A1_ENST00000320755.7_Missense_Mutation_p.D452N|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000370499.4_Missense_Mutation_p.D452N|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	695	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AATCCTATATCTCCCTAAATC	0.264000													27	95					0	0	0.0024448	0	0
OR4M1	441670	broad.mit.edu	37	14	20248603	20248603	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:20248603G>A	ENST00000315957.4	+	1	203	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41A(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTACCAGGAAATATCCTT	0.423000													11	181					0	0	0.000308642	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99968076	99968076	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:99968076C>T	ENST00000298999.3	+	5	508	c.205C>T	c.(205-207)Cga>Tga	p.R69*	R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Nonsense_Mutation_p.R69*	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like																		ACCGGAGGCTCGAAGACTAAA	0.353000													12	106					0	0	0.00244969	0	0
COL4A1	1282	broad.mit.edu	37	13	110850934	110850934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:110850934C>T	ENST00000375820.4	-	21	1286	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	COL4A1_ENST00000543140.1_Missense_Mutation_p.E389K	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	389	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCTCCTCTTTCACCAGGGAAG	0.597000													15	58					0	0	0.000958276	0	0
DNAH5	1767	broad.mit.edu	37	5	13823400	13823400	+	Missense_Mutation	SNP	G	G	A	rs144308691		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:13823400G>A	ENST00000265104.4	-	40	6763	c.6659C>T	c.(6658-6660)cCt>cTt	p.P2220L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2220					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)					TTCCAGTTCAGGGTAACCTGC	0.403000									Kartagener syndrome				25	140					0	0	0.000720815	0	0
FAT3	120114	broad.mit.edu	37	11	92087581	92087581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:92087581G>A	ENST00000298047.6	+	1	2320	c.2303G>A	c.(2302-2304)gGa>gAa	p.G768E	FAT3_ENST00000525166.1_Missense_Mutation_p.G618E|FAT3_ENST00000409404.2_Missense_Mutation_p.G768E|FAT3_ENST00000541502.1_Missense_Mutation_p.G768E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	768	Cadherin 7.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATATCAGATGGAAATACGGAT	0.408000										TCGA Ovarian(4;0.039)			26	266					0	0	0.00106085	0	0
OR1J4	26219	broad.mit.edu	37	9	125281534	125281534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:125281534G>A	ENST00000340750.1	+	1	115	c.115G>A	c.(115-117)Gtg>Atg	p.V39M		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CCTGATCACGGTGCTGGGGAA	0.567000													7	74					0	0	0.00198382	0	0
FLG	2312	broad.mit.edu	37	1	152281099	152281099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:152281099C>T	ENST00000368799.1	-	3	6298	c.6263G>A	c.(6262-6264)gGg>gAg	p.G2088E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2088	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAAAGACCCTGAACGTCC	0.562000									Ichthyosis				16	156					0	0	0.000566183	0	0
TH	7054	broad.mit.edu	37	11	2190958	2190958	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:2190958C>T	ENST00000381178.1	-	3	345	c.327G>A	c.(325-327)ggG>ggA	p.G109G	TH_ENST00000381175.1_Silent_p.G105G|TH_ENST00000352909.3_Silent_p.G78G|TH_ENST00000333684.5_Silent_p.G82G	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	109					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCACGGCCTTCCCCTCCTTCT	0.692000													4	35					0	0	0.000602214	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67177203	67177203	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:67177203C>T	ENST00000312390.5	+	10	1348	c.1319C>T	c.(1318-1320)tCc>tTc	p.S440F	TBC1D10C_ENST00000526387.1_3'UTR|TBC1D10C_ENST00000542590.1_Missense_Mutation_p.S440F	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	440	Interaction with calcineurin.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGCTCCACCTCCTTCCTGGAC	0.657000													6	20					0	0	0.00198382	0	0
RBM43	375287	broad.mit.edu	37	2	152112232	152112232	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:152112232G>A	ENST00000331426.5	-	2	180	c.29C>T	c.(28-30)tCc>tTc	p.S10F		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	10							nucleotide binding|RNA binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		AGGAGCTTTGGATTCCTTGAC	0.383000													9	44					0	0	0.000274275	0	0
KRT76	51350	broad.mit.edu	37	12	53167422	53167422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:53167422C>T	ENST00000332411.2	-	3	873	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	274	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATTTCATCTTCATACCTGGAA	0.488000													11	33					0	0	0.000978159	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648679	41648679	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:41648679C>T	ENST00000313860.7	+	12	1488	c.1434C>T	c.(1432-1434)tcC>tcT	p.S478S	LIMCH1_ENST00000509277.1_Silent_p.S312S|LIMCH1_ENST00000512820.1_Silent_p.S466S|LIMCH1_ENST00000511496.1_Silent_p.S319S|LIMCH1_ENST00000514096.1_Silent_p.S319S|LIMCH1_ENST00000512632.1_Silent_p.S478S|LIMCH1_ENST00000381753.4_Silent_p.S312S|LIMCH1_ENST00000396595.3_Silent_p.S324S|LIMCH1_ENST00000508501.1_Silent_p.S478S|LIMCH1_ENST00000512946.1_Silent_p.S478S|LIMCH1_ENST00000503057.1_Silent_p.S863S|LIMCH1_ENST00000513024.1_Silent_p.S307S	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	478					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ATTTATCCTCCTTCCTGAATG	0.483000													38	176					0	0	0.00111076	0	0
APOB	338	broad.mit.edu	37	2	21237349	21237349	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:21237349G>A	ENST00000233242.1	-	24	3940	c.3813C>T	c.(3811-3813)ttC>ttT	p.F1271F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1271				F -> S (in Ref. 4; AAB04636).	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGGGATGTGGAAGTCTGGCA	0.413000													31	368					0	0	0.00170553	0	0
DOCK2	1794	broad.mit.edu	37	5	169494644	169494644	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:169494644G>A	ENST00000256935.8	+	45	4678	c.4598G>A	c.(4597-4599)gGg>gAg	p.G1533E	DOCK2_ENST00000540750.1_Missense_Mutation_p.G594E|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.G1025E	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1533	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCTGAACGGGATTGTGGAC	0.532000													13	59					0	0	0.00244969	0	0
COL19A1	1310	broad.mit.edu	37	6	70897794	70897794	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:70897794C>T	ENST00000322773.4	+	47	2974	c.2872C>T	c.(2872-2874)Cca>Tca	p.P958S	COL19A1_ENST00000393344.1_Missense_Mutation_p.P580S	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	958	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCAGGGGATTCCAGGAGACAG	0.478000													8	38					0	0	0.000442599	0	0
SGSM1	129049	broad.mit.edu	37	22	25294505	25294505	+	Silent	SNP	T	T	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:25294505T>A	ENST00000400358.4	+	19	2646	c.2589T>A	c.(2587-2589)tcT>tcA	p.S863S	SGSM1_ENST00000400359.4_Silent_p.S918S	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	918	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CCCCTGTGTCTTCCAGCGGCG	0.557000													10	88					0	0	0.00185496	0	0
MC3R	4159	broad.mit.edu	37	20	54823928	54823928	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:54823928T>C	ENST00000243911.2	+	1	141	c.29T>C	c.(28-30)gTt>gCt	p.V10A		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	47					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CTGCCCTCTGTTCAGCCAACA	0.587000													20	106					0	0	0.00188189	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256735	140256735	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140256735G>A	ENST00000398631.2	+	1	1678	c.1678G>A	c.(1678-1680)Gac>Aac	p.D560N	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGAGAACGACAACGCGCC	0.701000													10	122					0	0	0.000978159	0	0
SAMD9	54809	broad.mit.edu	37	7	92734352	92734352	+	Silent	SNP	C	C	T	rs145911444	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:92734352C>T	ENST00000379958.2	-	3	1328	c.1059G>A	c.(1057-1059)acG>acA	p.T353T		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	353						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTTATTTTTCGTAATGTCCT	0.318000													33	92					0	0	0.0024448	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95108235	95108235	+	RNA	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:95108235G>A	ENST00000469935.1	+	0	840					NR_015340.1																						ATGCTCCTCAGAGGTAAGAGC	0.567000													6	53					0	0	0.000157383	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058833	152058833	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:152058833G>A	ENST00000368806.1	-	3	1389	c.1325C>T	c.(1324-1326)tCt>tTt	p.S442F		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	442							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTGTGTCTCAGAACCTTTTTC	0.453000													8	116					0	0	0.000157383	0	0
OTX2	5015	broad.mit.edu	37	14	57269073	57269073	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:57269073C>T	ENST00000339475.5	-	5	550	c.273_splice	c.e5-1	p.V92_splice	OTX2_ENST00000408990.3_Splice_Site_p.V84_splice|OTX2_ENST00000555006.1_Splice_Site_p.V84_splice|OTX2_ENST00000554788.1_Splice_Site_p.G33_splice|OTX2_ENST00000554559.1_Splice_Site_p.G33_splice	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	84					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					TTAAACCATACCTTGGAAGGG	0.418000													15	146					0	0	0.000958276	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702994	27702994	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:27702994C>T	ENST00000438700.3	-	1	303	c.186G>A	c.(184-186)tcG>tcA	p.S62S		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	62					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CATCCTGCTCCGACGCCAGGG	0.697000													14	37					0	0	0.00244969	0	0
KLKB1	3818	broad.mit.edu	37	4	187155165	187155165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:187155165G>A	ENST00000264690.6	+	4	468	c.281G>A	c.(280-282)gGt>gAt	p.G94D	KLKB1_ENST00000513864.1_Missense_Mutation_p.G94D	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	94	Apple 1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CATCGAACAGGTGCAGTTTCT	0.353000													6	71					0	0	0.00198382	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54914887	54914887	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:54914887G>A	ENST00000474759.1	+	21	1957	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K	CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.E543K|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.E637K|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.E637K	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	637						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AACCATCGAAGAAGGTAAGAT	0.478000													23	160					0	0	0.00106085	0	0
NR1D2	9975	broad.mit.edu	37	3	23996151	23996151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:23996151C>T	ENST00000312521.4	+	2	459	c.140C>T	c.(139-141)tCt>tTt	p.S47F	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	47					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						CCAAATAGCTCTAATTCTGAT	0.428000													10	95					0	0	0.000673444	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963932	88963932	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:88963932G>A	ENST00000333190.4	+	4	2245	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	546						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCCGGATTGGGAAAAATTCCA	0.348000										HNSCC(36;0.09)			4	29					0	0	0.000602214	0	0
OR4F15	390649	broad.mit.edu	37	15	102358695	102358695	+	Silent	SNP	C	C	T	rs137948998		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:102358695C>T	ENST00000332238.4	+	1	330	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CTCAGATCTTCTTTAGCCATG	0.448000													5	62					0	0	0.00116845	0	0
PDE1C	5137	broad.mit.edu	37	7	31862736	31862736	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:31862736C>T	ENST00000396184.3	-	15	1737	c.1533G>A	c.(1531-1533)acG>acA	p.T511T	PDE1C_ENST00000396191.1_Silent_p.T511T|PDE1C_ENST00000321453.7_Silent_p.T511T|PDE1C_ENST00000396193.1_Silent_p.T571T|PDE1C_ENST00000396182.2_Silent_p.T511T	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	511	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.T511T(2)|p.T571T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GCACCACTTCCGTCCAAGTAG	0.488000													16	72					0	0	0.000958276	0	0
SFMBT2	57713	broad.mit.edu	37	10	7262419	7262419	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:7262419G>A	ENST00000361972.4	-	11	1374	c.1284C>T	c.(1282-1284)gcC>gcT	p.A428A	SFMBT2_ENST00000397167.1_Silent_p.A428A	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	428					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TCACAACGGAGGCCACACACA	0.517000													10	90					0	0	0.000978159	0	0
MYH7	4625	broad.mit.edu	37	14	23887557	23887557	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:23887557C>A	ENST00000355349.3	-	30	4193	c.4031G>T	c.(4030-4032)cGg>cTg	p.R1344L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1344					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTACTGCTCCCGCAGCAGGTC	0.667000													4	28					0.000602214	0.00261394	0.000602214	1	0
UMODL1	89766	broad.mit.edu	37	21	43510525	43510525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:43510525G>A	ENST00000400427.1	+	6	1088	c.692G>A	c.(691-693)cGg>cAg	p.R231Q	UMODL1_ENST00000400424.1_Missense_Mutation_p.R231Q|UMODL1_ENST00000408989.2_Missense_Mutation_p.R303Q|UMODL1_ENST00000408910.2_Missense_Mutation_p.R303Q	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	303						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ACGTCTCCACGGAAGCTGAAC	0.562000													7	45					0	0	0.000157383	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46020592	46020592	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:46020592C>T	ENST00000380102.2	+	1	96	c.71C>T	c.(70-72)tCc>tTc	p.S24F	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	24						keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CTTCCTGGTTCCTGTGACTCT	0.672000													4	27					0	0	0.000602214	0	0
UGGT2	55757	broad.mit.edu	37	13	96506627	96506627	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:96506627G>A	ENST00000376747.3	-	35	4181	c.4111C>T	c.(4111-4113)Cgt>Tgt	p.R1371C		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1371	Glucosyltransferase.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTCCAGAAACGATATCCATCC	0.393000													7	80					0	0	0.000157383	0	0
CATSPER3	347732	broad.mit.edu	37	5	134346174	134346174	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:134346174G>A	ENST00000282611.6	+	7	1134	c.1048G>A	c.(1048-1050)Gat>Aat	p.D350N		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	350					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACCCTTCATCGATATCTACTT	0.512000													6	59					0	0	0.00116845	0	0
CLVS2	134829	broad.mit.edu	37	6	123332168	123332168	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:123332168C>T	ENST00000275162.4	+	3	1763	c.428C>T	c.(427-429)tCt>tTt	p.S143F	CLVS2_ENST00000368438.1_5'UTR	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	143	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ATCTTACTTTCTTTAGAAGCC	0.388000													7	64					0	0	0.000274275	0	0
AGFG2	3268	broad.mit.edu	37	7	100151107	100151107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:100151107C>T	ENST00000300176.4	+	4	691	c.569C>T	c.(568-570)gCc>gTc	p.A190V	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_Intron	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	190					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCAGTTGCTGCCTCCACCTCG	0.552000													13	45					0	0	0.00244969	0	0
CTNNA3	29119	broad.mit.edu	37	10	69366778	69366778	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:69366778G>A	ENST00000433211.1	-	3	303	c.129C>T	c.(127-129)aaC>aaT	p.N43N	CTNNA3_ENST00000545309.1_Silent_p.N43N|CTNNA3_ENST00000373744.4_Silent_p.N43N	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	43					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TGCTGGAAGGGTTCTGGGGAC	0.403000													7	63					0	0	0.000274275	0	0
CLDN17	26285	broad.mit.edu	37	21	31538598	31538598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:31538598C>T	ENST00000286808.3	-	1	373	c.338G>A	c.(337-339)aGg>aAg	p.R113K		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	113					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	p.R113M(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						TGCTTTGGCCCTCTCGTTAGA	0.542000													9	51					0	0	0.000442599	0	0
TRIM45	80263	broad.mit.edu	37	1	117658248	117658248	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:117658248C>T	ENST00000256649.4	-	4	1942	c.1416G>A	c.(1414-1416)aaG>aaA	p.K472K	TRIM45_ENST00000369461.3_Silent_p.K415K|TRIM45_ENST00000369464.3_Silent_p.K454K	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	472						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		CGCCAGGTTCCTTGGGGGTGT	0.493000													6	86					0	0	0.00198382	0	0
CTNND1	1500	broad.mit.edu	37	11	57576845	57576845	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:57576845C>T	ENST00000524630.1	+	14	2837	c.2324C>T	c.(2323-2325)aCt>aTt	p.T775I	CTNND1_ENST00000529919.1_Missense_Mutation_p.T781I|CTNND1_ENST00000533667.1_Missense_Mutation_p.T452I|CTNND1_ENST00000428599.2_Missense_Mutation_p.T775I|CTNND1_ENST00000526357.1_Missense_Mutation_p.T721I|CTNND1_ENST00000532463.1_Missense_Mutation_p.T674I|CTNND1_ENST00000529873.1_Missense_Mutation_p.T721I|CTNND1_ENST00000529986.1_Missense_Mutation_p.T674I|CTNND1_ENST00000532245.1_Missense_Mutation_p.T674I|CTNND1_ENST00000526772.1_Missense_Mutation_p.T452I|CTNND1_ENST00000399050.4_Missense_Mutation_p.T781I|CTNND1_ENST00000526938.1_Missense_Mutation_p.T781I|CTNND1_ENST00000361332.4_Missense_Mutation_p.T775I|CTNND1_ENST00000361796.4_Missense_Mutation_p.T775I|CTNND1_ENST00000360682.6_Missense_Mutation_p.T781I|CTNND1_ENST00000361391.6_Missense_Mutation_p.T775I|CTNND1_ENST00000534579.1_Missense_Mutation_p.T721I|CTNND1_ENST00000528621.1_Missense_Mutation_p.T721I|CTNND1_ENST00000415361.2_Missense_Mutation_p.T680I|CTNND1_ENST00000525902.1_Missense_Mutation_p.T458I|CTNND1_ENST00000532649.1_Missense_Mutation_p.T721I|CTNND1_ENST00000530748.1_Missense_Mutation_p.T727I|CTNND1_ENST00000527467.1_Missense_Mutation_p.T458I|CTNND1_ENST00000530094.1_Missense_Mutation_p.T674I|CTNND1_ENST00000529526.1_Missense_Mutation_p.T721I|CTNND1_ENST00000528232.1_Missense_Mutation_p.T680I|CTNND1_ENST00000426142.2_Missense_Mutation_p.T674I|CTNND1_ENST00000399039.4_Missense_Mutation_p.T781I|CTNND1_ENST00000532844.1_Missense_Mutation_p.T727I|CTNND1_ENST00000358694.6_Missense_Mutation_p.T775I|CTNND1_ENST00000532787.1_Missense_Mutation_p.T674I|CTNND1_ENST00000531014.1_Missense_Mutation_p.T452I			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	781					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				ATTTTGAACACTATCAACGAG	0.448000													7	67					0	0	0.00198382	0	0
FCAR	2204	broad.mit.edu	37	19	55401079	55401079	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:55401079C>T	ENST00000391723.3	+	4	604	c.604C>T	c.(604-606)Cgt>Tgt	p.R202C	FCAR_ENST00000391726.3_Silent_p.L130L|FCAR_ENST00000359272.4_Silent_p.L226L|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000353758.4_Silent_p.L129L|FCAR_ENST00000355524.3_Silent_p.L238L|FCAR_ENST00000345937.4_Silent_p.L142L|FCAR_ENST00000391725.3_Silent_p.L216L|FCAR_ENST00000391724.3_Silent_p.L204L	NM_133274.2	NP_579808.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	0					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	p.L238L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		GACTGGTCCTCGTGGCTCTCT	0.542000													41	241					0	0	0.00195071	0	0
NEB	4703	broad.mit.edu	37	2	152490363	152490363	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:152490363C>T	ENST00000397345.3	-	65	9421	c.9219G>A	c.(9217-9219)agG>agA	p.R3073R	NEB_ENST00000172853.10_Intron|NEB_ENST00000604864.1_Silent_p.R3073R|NEB_ENST00000409198.1_Intron|NEB_ENST00000603639.1_Silent_p.R3073R|NEB_ENST00000427231.2_Silent_p.R3073R	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3073					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTTGTACTCCCTGTCACTCT	0.522000													10	151					0	0	0.000978159	0	0
OR9G4	283189	broad.mit.edu	37	11	56511147	56511147	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:56511147C>T	ENST00000302957.3	-	1	140	c.141G>A	c.(139-141)ctG>ctA	p.L47L		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AATAGAGCATCAGAAACACTC	0.423000													5	32					0	0	0.000602214	0	0
ADAL	161823	broad.mit.edu	37	15	43639246	43639246	+	Silent	SNP	T	T	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:43639246T>A	ENST00000422466.2	+	10	1159	c.585T>A	c.(583-585)ctT>ctA	p.L195L	ADAL_ENST00000428046.3_Intron|ADAL_ENST00000562188.1_Silent_p.L195L|ADAL_ENST00000389651.4_Silent_p.L195L			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	195					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		TGGAACCTCTTTTAGAAGCTA	0.348000													30	184					0	0	0.000692331	0	0
CSMD1	64478	broad.mit.edu	37	8	3256953	3256953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:3256953C>T	ENST00000520002.1	-	17	2923	c.2368G>A	c.(2368-2370)Gaa>Aaa	p.E790K	CSMD1_ENST00000602723.1_Missense_Mutation_p.E790K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E789K|CSMD1_ENST00000539096.1_Missense_Mutation_p.E789K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E789K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E790K|CSMD1_ENST00000602557.1_Missense_Mutation_p.E790K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	790	CUB 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGTTTTGCTTCAATTATCCAT	0.408000													10	90					0	0	0.000673444	0	0
JAM2	58494	broad.mit.edu	37	21	27066102	27066102	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:27066102C>T	ENST00000480456.1	+	4	826	c.276C>T	c.(274-276)ttC>ttT	p.F92F	JAM2_ENST00000312957.5_Silent_p.F92F|JAM2_ENST00000425221.2_Silent_p.F56F|JAM2_ENST00000400532.1_Silent_p.F92F	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	92	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TGATAGATTTCAATATCCGGA	0.383000													7	70					0	0	0.000157383	0	0
CPA5	93979	broad.mit.edu	37	7	129986407	129986407	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:129986407C>T	ENST00000485477.1	+	2	1210	c.81C>T	c.(79-81)atC>atT	p.I27I	CPA5_ENST00000393213.3_Silent_p.I27I|CPA5_ENST00000466363.2_Silent_p.I27I|CPA5_ENST00000355388.3_Silent_p.I27I|CPA5_ENST00000474905.1_Silent_p.I27I|CPA5_ENST00000461828.1_Silent_p.I27I|CPA5_ENST00000431780.2_Silent_p.I27I			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	27					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TCAGCTTTATCCTGGCAGCAG	0.642000													24	53					0	0	0.001512	0	0
CREBBP	1387	broad.mit.edu	37	16	3828033	3828033	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:3828033C>T	ENST00000262367.5	-	10	2901	c.2092G>A	c.(2092-2094)Gca>Aca	p.A698T	CREBBP_ENST00000382070.3_Missense_Mutation_p.A660T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	698					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACAGGTTGTGCCTGTGGAATC	0.498000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						18	96					0	0	0.00152264	0	0
NLRC5	84166	broad.mit.edu	37	16	57060688	57060688	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:57060688G>A	ENST00000436936.1	+	6	2058	c.1833G>A	c.(1831-1833)aaG>aaA	p.K611K	NLRC5_ENST00000262510.6_Silent_p.K611K|NLRC5_ENST00000308149.7_Silent_p.K611K|NLRC5_ENST00000539144.1_Silent_p.K611K			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	611					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CAGGGCCAAAGGTTGTAGAGC	0.582000													4	28					0	0	0.00024832	0	0
MAP3K3	4215	broad.mit.edu	37	17	61759137	61759137	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:61759137C>T	ENST00000361357.3	+	8	925	c.607C>T	c.(607-609)Cct>Tct	p.P203S	MAP3K3_ENST00000579585.1_Missense_Mutation_p.P203S|MAP3K3_ENST00000577395.1_Missense_Mutation_p.P172S|MAP3K3_ENST00000361733.3_Missense_Mutation_p.P172S|MAP3K3_ENST00000584573.1_Missense_Mutation_p.P203S	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	172					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTCCCAGAACCCTGGCCGAAG	0.592000													11	58					0	0	0.00136819	0	0
MUC16	94025	broad.mit.edu	37	19	9048281	9048281	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9048281G>T	ENST00000397910.4	-	5	33553	c.33350C>A	c.(33349-33351)aCt>aAt	p.T11117N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11119	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						AGAAGAAAGAGTTAGAATTGG	0.507000													6	27					2.0095e-06	8.77247e-06	0.00198382	1	0
BARX2	8538	broad.mit.edu	37	11	129246109	129246109	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:129246109C>T	ENST00000281437.4	+	1	275	c.179C>T	c.(178-180)tCc>tTc	p.S60F		NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	60										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CCCCTGCATTCCTGTACGGGT	0.582000											OREG0021508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	100					0	0	0.00229938	0	0
BCL11A	53335	broad.mit.edu	37	2	60688222	60688222	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:60688222G>A	ENST00000335712.6	-	4	2052	c.1825C>T	c.(1825-1827)Ccg>Tcg	p.P609S	BCL11A_ENST00000538214.1_Missense_Mutation_p.P575S|BCL11A_ENST00000537768.1_Missense_Mutation_p.P278S|BCL11A_ENST00000356842.4_Missense_Mutation_p.P609S|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.P575S|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	609					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GACTCGCCCGGGGAGCAGCCG	0.667000			T	IGH@	B-CLL								9	88					0	0	0.000442599	0	0
GPR32	2854	broad.mit.edu	37	19	51274748	51274748	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:51274748C>T	ENST00000270590.4	+	1	1028	c.891C>T	c.(889-891)atC>atT	p.I297I		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	297						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGCTGCTCATCCTCCAGGCTA	0.517000													10	55					0	0	0.000978159	0	0
CD163	9332	broad.mit.edu	37	12	7639347	7639347	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:7639347G>A	ENST00000359156.4	-	10	2408	c.2206C>T	c.(2206-2208)Cat>Tat	p.H736Y	CD163_ENST00000396620.3_Missense_Mutation_p.H769Y|CD163_ENST00000432237.2_Missense_Mutation_p.H736Y|CD163_ENST00000541972.1_Missense_Mutation_p.H724Y	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	736	SRCR 7.				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						GAGCCCTCATGATAGATCTCT	0.517000													10	54					0	0	0.00185496	0	0
PYROXD2	84795	broad.mit.edu	37	10	100143598	100143598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:100143598C>T	ENST00000370575.4	-	16	1751	c.1703G>A	c.(1702-1704)cGa>cAa	p.R568Q	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	568							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						TGCTGCATTTCGCCCAGCAGC	0.567000													10	86					0	0	0.00136819	0	0
PLCH1	23007	broad.mit.edu	37	3	155200053	155200053	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:155200053C>T	ENST00000460012.1	-	23	4029	c.3672G>A	c.(3670-3672)tcG>tcA	p.S1224S	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000340059.7_Silent_p.S1262S|PLCH1_ENST00000334686.6_Silent_p.S1224S|PLCH1_ENST00000414191.1_Silent_p.S1224S			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1262					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.S1224S(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCTCAGAACTCGAGAGTGCTA	0.468000													18	98					0	0	0.00121646	0	0
SNHG14	104472715	broad.mit.edu	37	15	25434598	25434598	+	RNA	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:25434598G>A	ENST00000424208.1	+	0	937				SNHG14_ENST00000414175.1_RNA|SNORD115-11_ENST00000363616.1_RNA	NR_003305.1																						CCTGAAGAGAGGTGATGACTT	0.527000													35	217					0	0	0.0025221	0	0
CREBBP	1387	broad.mit.edu	37	16	3828034	3828034	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:3828034C>T	ENST00000262367.5	-	10	2900	c.2091G>A	c.(2089-2091)caG>caA	p.Q697Q	CREBBP_ENST00000382070.3_Silent_p.Q659Q	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	697					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CAGGTTGTGCCTGTGGAATCA	0.498000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						18	96					0	0	0.00152264	0	0
CCDC116	164592	broad.mit.edu	37	22	21989370	21989370	+	Silent	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:21989370T>C	ENST00000292779.3	+	4	1179	c.1018T>C	c.(1018-1020)Ttg>Ctg	p.L340L		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	340										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CCCCACCAGCTTGGAGCCCAC	0.677000													9	30					0	0	0.00136819	0	0
C19orf57	79173	broad.mit.edu	37	19	13993681	13993681	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:13993681G>A	ENST00000454313.1	-	9	1999	c.1941C>T	c.(1939-1941)ccC>ccT	p.P647P	C19orf57_ENST00000346736.2_Silent_p.P616P|C19orf57_ENST00000586783.1_Silent_p.P647P|C19orf57_ENST00000591586.1_Silent_p.P222P			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	647					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGTAAGGCAGGGGGGCTTTGC	0.597000													10	62					0	0	0.000978159	0	0
C3orf58	205428	broad.mit.edu	37	3	143704449	143704449	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:143704449C>T	ENST00000315691.3	+	2	1257	c.722C>T	c.(721-723)gCt>gTt	p.A241V	C3orf58_ENST00000495414.1_Missense_Mutation_p.A32V|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Missense_Mutation_p.A3V	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	241						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGAATGGTGGCTGTAAATTAT	0.388000													12	172					0	0	0.000422831	0	0
ANK3	288	broad.mit.edu	37	10	62029966	62029966	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:62029966T>A	ENST00000280772.1	-	5	627	c.436A>T	c.(436-438)Atg>Ttg	p.M146L	ANK3_ENST00000503366.1_Missense_Mutation_p.M129L|ANK3_ENST00000373827.2_Missense_Mutation_p.M140L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	146					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.M146V(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGGCTGCCATATACAATGGC	0.398000													5	58					0	0	0.00198382	0	0
RGS22	26166	broad.mit.edu	37	8	101076245	101076245	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:101076245G>A	ENST00000360863.6	-	8	945	c.751C>T	c.(751-753)Cac>Tac	p.H251Y	RGS22_ENST00000523437.1_Missense_Mutation_p.H239Y|RGS22_ENST00000523287.1_Missense_Mutation_p.H70Y	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	251					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GTCCTAGGGTGAACTCCATCA	0.308000													17	249					0	0	0.00152264	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559171	140559171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140559171C>T	ENST00000239444.2	+	1	1801	c.1556C>T	c.(1555-1557)tCg>tTg	p.S519L		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		519	Cadherin 5.				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)			GCCCTCAGGTCGCTGGACTAC	0.687000													15	429					0	0	0.000422831	0	0
GFRAL	389400	broad.mit.edu	37	6	55216156	55216156	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:55216156G>A	ENST00000340465.2	+	5	562	c.476G>A	c.(475-477)gGa>gAa	p.G159E		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	159						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCAGCAAATGGAAATCCGTGT	0.453000													13	43					0	0	0.00244969	0	0
UPK1A	11045	broad.mit.edu	37	19	36166864	36166864	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:36166864C>T	ENST00000222275.2	+	5	591	c.591C>T	c.(589-591)ttC>ttT	p.F197F	UPK1A_ENST00000379013.2_Silent_p.F197F	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	197					epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGGGAAACTTCATCCCCCTCA	0.637000													11	32					0	0	0.00244969	0	0
EMID1	129080	broad.mit.edu	37	22	29628258	29628258	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:29628258C>T	ENST00000334018.6	+	8	878	c.690C>T	c.(688-690)ccC>ccT	p.P230P	EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404755.3_Silent_p.P230P|EMID1_ENST00000404820.3_Silent_p.P230P	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	228	Collagen-like.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						CACAGGGCCCCCCAGGGAGCC	0.697000													12	54					0	0	0.000566183	0	0
DNAH5	1767	broad.mit.edu	37	5	13911601	13911601	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:13911601C>T	ENST00000265104.4	-	12	1642	c.1536_splice	c.e12-1	p.G513_splice		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	513	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)					TGCCACAATGCCCTGAAATAT	0.318000									Kartagener syndrome				14	91					0	0	0.000308642	0	0
NLRP8	126205	broad.mit.edu	37	19	56467047	56467047	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:56467047G>A	ENST00000291971.3	+	3	1694	c.1623G>A	c.(1621-1623)ctG>ctA	p.L541L	NLRP8_ENST00000590542.1_Silent_p.L541L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	541						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCCAGCGCCTGATAGCGAGTC	0.453000													13	73					0	0	0.00244969	0	0
PCDHA5	56143	broad.mit.edu	37	5	140201568	140201568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140201568C>T	ENST00000529859.1	+	1	208	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C	PCDHA5_ENST00000378126.3_Missense_Mutation_p.R70C|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R70C|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018908.2	NP_061731.1												p.Q49fs*50(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCAAGGGCCGCGGGGACCT	0.637000													23	98					0	0	0.00047179	0	0
LAMA2	3908	broad.mit.edu	37	6	129785560	129785560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:129785560C>T	ENST00000421865.2	+	50	7167	c.7118C>T	c.(7117-7119)tCg>tTg	p.S2373L		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2373	Laminin G-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACATTTTCTTCGAGTGCTCTT	0.423000													18	39					0	0	0.00278032	0	0
GUCY2C	2984	broad.mit.edu	37	12	14778827	14778827	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:14778827C>T	ENST00000261170.3	-	21	2408	c.2272G>A	c.(2272-2274)Gaa>Aaa	p.E758K		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	758					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						ATATAGCTTTCATTTTTTTGG	0.358000													9	68					0	0	0.000274275	0	0
ITSN1	6453	broad.mit.edu	37	21	35206644	35206644	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:35206644C>T	ENST00000381318.3	+	28	3673	c.3385C>T	c.(3385-3387)Cca>Tca	p.P1129S	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.P1053S|ITSN1_ENST00000437442.2_Missense_Mutation_p.P1124S|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.P1124S|ITSN1_ENST00000381291.4_Missense_Mutation_p.P1129S|ITSN1_ENST00000399355.2_Missense_Mutation_p.P1058S|ITSN1_ENST00000381285.4_Missense_Mutation_p.P1129S|ITSN1_ENST00000399353.1_Missense_Mutation_p.P1087S|ITSN1_ENST00000399352.1_Missense_Mutation_p.P1124S|ITSN1_ENST00000379960.5_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1129	SH3 4.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGGCTGGTTCCCAGCTAATTA	0.418000													7	43					0	0	0.000157383	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172302	207172302	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:207172302C>T	ENST00000374423.3	+	5	3436	c.3050C>T	c.(3049-3051)gCt>gTt	p.A1017V		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1017							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CCTCAAGTAGCTGTTAACAAA	0.343000													6	52					0	0	0.00198382	0	0
PARP6	56965	broad.mit.edu	37	15	72541600	72541600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:72541600G>A	ENST00000569795.1	-	20	2234	c.1547C>T	c.(1546-1548)tCc>tTc	p.S516F	PARP6_ENST00000287196.9_Missense_Mutation_p.S516F|PARP6_ENST00000260376.7_Intron|PARP6_ENST00000413097.2_Intron			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	516	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						GTATCCAAAGGAAATACTGGA	0.478000													8	98					0	0	0.000274275	0	0
XDH	7498	broad.mit.edu	37	2	31573083	31573083	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:31573083C>T	ENST00000379416.3	-	25	2686	c.2638G>A	c.(2638-2640)Gaa>Aaa	p.E880K		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	880					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AAAGCTCGTTCCATAATCTGA	0.493000													5	55					0	0	0.000602214	0	0
PCDH18	54510	broad.mit.edu	37	4	138453104	138453104	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:138453104G>A	ENST00000344876.4	-	1	525	c.139C>T	c.(139-141)Cta>Tta	p.L47L	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000412923.2_Silent_p.L47L|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	47	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCCTCTGATAGTCTTGCAATT	0.398000													10	42					0	0	0.000442599	0	0
BAGE2	85319	broad.mit.edu	37	21	11049495	11049495	+	RNA	SNP	C	C	A	rs28640965		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:11049495C>A	ENST00000470054.1	-	0	613									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCAACCTGCACGTTTTAATGG	0.448000													8	105					0.000673444	0.00292192	0.000673444	1	0
COL6A2	1292	broad.mit.edu	37	21	47545947	47545947	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:47545947G>A	ENST00000300527.4	+	26	2322	c.2218G>A	c.(2218-2220)Gat>Aat	p.D740N	COL6A2_ENST00000310645.5_Missense_Mutation_p.D740N|COL6A2_ENST00000409416.1_Missense_Mutation_p.D740N|COL6A2_ENST00000357838.4_Missense_Mutation_p.D740N|COL6A2_ENST00000397763.1_Missense_Mutation_p.D740N	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	740	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCCTCGGGACGATGACCTCAA	0.617000													7	40					0	0	0.00198382	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657116	46657116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:46657116C>T	ENST00000253255.5	-	1	2103	c.2104G>A	c.(2104-2106)Gat>Aat	p.D702N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	702	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GGTAAAAAATCCTTCTTTTGA	0.388000													6	78					0	0	0.00116845	0	0
SCN11A	11280	broad.mit.edu	37	3	38888300	38888300	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:38888300C>T	ENST00000450244.1	-	26	5459	c.5261G>A	c.(5260-5262)gGt>gAt	p.G1754D	SCN11A_ENST00000456224.3_Missense_Mutation_p.G1716D|SCN11A_ENST00000302328.3_Missense_Mutation_p.G1754D			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1754					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	accttggtcacccttggtcac	0.478000													8	63					0	0	0.000274275	0	0
KRT2	3849	broad.mit.edu	37	12	53044161	53044161	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:53044161C>T	ENST00000309680.3	-	2	783	c.762G>A	c.(760-762)ctG>ctA	p.L254L		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	254	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GCATGTTATTCAGCTCTGAAT	0.473000													23	100					0	0	0.000720815	0	0
HHIPL2	79802	broad.mit.edu	37	1	222696098	222696098	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:222696098T>C	ENST00000343410.6	-	9	2078	c.2020A>G	c.(2020-2022)Agc>Ggc	p.S674G	HHIPL2_ENST00000473144.1_5'UTR	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	674					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TTCTTGCTGCTTGTAGGAGAA	0.542000													44	281					0	0	0.000781405	0	0
CASZ1	54897	broad.mit.edu	37	1	10720040	10720040	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:10720040C>T	ENST00000377022.3	-	6	1376	c.1059G>A	c.(1057-1059)ggG>ggA	p.G353G	CASZ1_ENST00000344008.5_Silent_p.G353G	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGCTGCCCTCCCCGGGTTTGA	0.637000													7	87					0	0	0.000157383	0	0
RELN	5649	broad.mit.edu	37	7	103206802	103206802	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:103206802G>A	ENST00000428762.1	-	33	4964	c.4805C>T	c.(4804-4806)tCt>tTt	p.S1602F	RELN_ENST00000343529.5_Missense_Mutation_p.S1602F|RELN_ENST00000424685.2_Missense_Mutation_p.S1602F	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1602					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCAGTTTGAGAGCTGTCATT	0.403000													12	39					0	0	0.00136819	0	0
FHL3	2275	broad.mit.edu	37	1	38463199	38463199	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:38463199C>T	ENST00000373016.3	-	6	889	c.721G>A	c.(721-723)Gac>Aac	p.D241N	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	241	LIM zinc-binding 4.				muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CAGTGTCGGTCTTCAAAGGAC	0.607000													4	28					0	0	0.000602214	0	0
GIGYF2	26058	broad.mit.edu	37	2	233671241	233671241	+	Silent	SNP	G	G	A	rs142567233		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:233671241G>A	ENST00000373566.3	+	16	1943	c.1746G>A	c.(1744-1746)gcG>gcA	p.A582A	GIGYF2_ENST00000409547.1_Silent_p.A560A|GIGYF2_ENST00000452341.2_Silent_p.A391A|GIGYF2_ENST00000409451.3_Silent_p.A581A|GIGYF2_ENST00000409196.3_Silent_p.A554A|GIGYF2_ENST00000373563.4_Silent_p.A560A|GIGYF2_ENST00000409480.1_Silent_p.A582A			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	560					cell death		protein binding	p.A581A(1)|p.A560A(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GGTTTCAGGCGGGCTATTTTA	0.408000													9	134					0	0	0.00185496	0	0
PLCD1	5333	broad.mit.edu	37	3	38061696	38061696	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:38061696G>A	ENST00000463876.1	-	2	598	c.245C>T	c.(244-246)aCc>aTc	p.T82I	PLCD1_ENST00000334661.4_Missense_Mutation_p.T61I	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	61	PH.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GGACTCCGGGGTCCGCATGAC	0.577000													9	53					0	0	0.00136819	0	0
NTSR1	4923	broad.mit.edu	37	20	61341150	61341150	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:61341150C>T	ENST00000370501.3	+	1	962	c.591C>T	c.(589-591)gcC>gcT	p.A197A		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	197						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			TCGCCTCGGCCCTGCTGGCGG	0.667000													11	42					0	0	0.000978159	0	0
UCHL1	7345	broad.mit.edu	37	4	41265263	41265263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:41265263C>T	ENST00000284440.4	+	7	625	c.481C>T	c.(481-483)Cat>Tat	p.H161Y	UCHL1_ENST00000512788.1_Missense_Mutation_p.H161Y|UCHL1_ENST00000508768.1_Missense_Mutation_p.H145Y|UCHL1_ENST00000503431.1_Missense_Mutation_p.H161Y	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	161					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity	p.H161Y(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						GGTGAATTTCCATTTTATTCT	0.333000													16	122					0	0	0.00121646	0	0
SUPT5H	6829	broad.mit.edu	37	19	39959432	39959432	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:39959432C>T	ENST00000599117.1	+	15	1441	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F	SUPT5H_ENST00000359191.6_Silent_p.F354F|SUPT5H_ENST00000598725.1_Silent_p.F358F|SUPT5H_ENST00000402194.2_Silent_p.F354F|SUPT5H_ENST00000432763.2_Silent_p.F358F			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	358	Interaction with RNA polymerase II.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ATGGTGACTTCCTCATCTTTG	0.527000													9	63					0	0	0.00136819	0	0
SP140	11262	broad.mit.edu	37	2	231102934	231102934	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:231102934C>T	ENST00000392045.3	+	3	358	c.244C>T	c.(244-246)Caa>Taa	p.Q82*	SP140_ENST00000544128.1_3'UTR|SP140_ENST00000420434.3_Nonsense_Mutation_p.Q82*|SP140_ENST00000350136.5_Nonsense_Mutation_p.Q62*|SP140_ENST00000343805.6_Nonsense_Mutation_p.Q82*|SP140_ENST00000373645.3_Nonsense_Mutation_p.Q82*|SP140_ENST00000486687.2_Nonsense_Mutation_p.Q82*|SP140_ENST00000417495.3_Nonsense_Mutation_p.Q82*	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	82	HSR.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TAAGCATTTTCAAGAAGCTTT	0.358000													6	55					0	0	0.00116845	0	0
HAO2	51179	broad.mit.edu	37	1	119935285	119935285	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:119935285G>A	ENST00000361035.4	+	8	1297	c.1014G>A	c.(1012-1014)gaG>gaA	p.E338E	HAO2_ENST00000482991.1_3'UTR|HAO2_ENST00000325945.3_Silent_p.E325E	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	325	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TAACAAATGAGTTCCACACTT	0.438000													12	43					0	0	0.00136819	0	0
GINS4	84296	broad.mit.edu	37	8	41397251	41397251	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:41397251G>A	ENST00000523277.2	+	5	519	c.352G>A	c.(352-354)Gag>Aag	p.E118K	GINS4_ENST00000518671.1_Missense_Mutation_p.E118K|GINS4_ENST00000276533.3_Missense_Mutation_p.E118K|RP11-360L9.4_ENST00000523081.1_RNA			Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	118					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			TCCTGAGGGGGAGCCTTCCAG	0.517000													6	60					0	0	0.00198382	0	0
COL4A6	1288	broad.mit.edu	37	X	107413904	107413904	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:107413904G>A	ENST00000394872.2	-	35	3662	c.3431C>T	c.(3430-3432)cCa>cTa	p.P1144L	COL4A6_ENST00000372216.4_Missense_Mutation_p.P1144L|COL4A6_ENST00000334504.7_Missense_Mutation_p.P1143L|COL4A6_ENST00000545689.1_Missense_Mutation_p.P1143L|COL4A6_ENST00000538570.1_Missense_Mutation_p.P1143L			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1144	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AGAAGAACCTGGAAGTCCTGG	0.507000									Alport syndrome with Diffuse Leiomyomatosis				31	57					0	0	0.000814825	0	0
PRX	57716	broad.mit.edu	37	19	40901315	40901315	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:40901315C>T	ENST00000324001.7	-	7	3214	c.2944G>A	c.(2944-2946)Gag>Aag	p.E982K	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	982					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGCCTGCCTCCCCAGCCCCT	0.647000													12	53					0	0	0.00244969	0	0
OR52M1	119772	broad.mit.edu	37	11	4567089	4567089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:4567089G>A	ENST00000360213.1	+	1	669	c.669G>A	c.(667-669)atG>atA	p.M223I		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTATGTGATGATTTTCAGGG	0.512000													19	106					0	0	0.000586117	0	0
WDR72	256764	broad.mit.edu	37	15	54005060	54005060	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:54005060G>A	ENST00000396328.1	-	7	859	c.620C>T	c.(619-621)tCc>tTc	p.S207F	WDR72_ENST00000360509.5_Missense_Mutation_p.S207F|WDR72_ENST00000559418.1_Missense_Mutation_p.S207F|WDR72_ENST00000557913.1_Missense_Mutation_p.S206F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	207										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AAGAAACTTGGATTCTTTTTC	0.353000													7	52					0	0	0.00198382	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114449757	114449757	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:114449757G>A	ENST00000369563.3	+	2	775	c.329G>A	c.(328-330)gGa>gAa	p.G110E	DCLRE1B_ENST00000466480.1_Intron	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	110					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCTTTGAAGGATATTTTGGA	0.398000								Other identified genes with known or suspected DNA repair function					6	62					0	0	0.00198382	0	0
CMYA5	202333	broad.mit.edu	37	5	79031757	79031757	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:79031757C>T	ENST00000446378.2	+	2	7200	c.7169C>T	c.(7168-7170)tCa>tTa	p.S2390L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2390						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAGCCAAAATCAGCTTCCTCC	0.338000													10	54					0	0	0.000442599	0	0
SHANK2	22941	broad.mit.edu	37	11	70319071	70319071	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:70319071G>A	ENST00000338508.4	-	33	5455	c.5456C>T	c.(5455-5457)cCa>cTa	p.P1819L	SHANK2_ENST00000449833.2_Missense_Mutation_p.P1223L|SHANK2_ENST00000423696.2_Missense_Mutation_p.P1439L|SHANK2_ENST00000409161.1_Missense_Mutation_p.P1222L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1439					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTGCAGGTTTGGTAAGTGACT	0.483000													18	160					0	0	0.00074312	0	0
OR4K14	122740	broad.mit.edu	37	14	20482453	20482453	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:20482453C>T	ENST00000305045.2	-	1	899	c.900G>A	c.(898-900)aaG>aaA	p.K300K		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTTGCAGTTTCTTCATAGCTG	0.373000													17	164					0	0	0.00152264	0	0
DCHS2	54798	broad.mit.edu	37	4	155158225	155158225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:155158225G>A	ENST00000357232.3	-	25	6213	c.6214C>T	c.(6214-6216)Cct>Tct	p.P2072S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2072	Cadherin 18.				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)		CTCAGGTCAGGATTTCCACCA	0.373000													5	45					0	0	0.000602214	0	0
SORL1	6653	broad.mit.edu	37	11	121475026	121475026	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:121475026C>T	ENST00000260197.7	+	33	4773	c.4644C>T	c.(4642-4644)gcC>gcT	p.A1548A	SORL1_ENST00000527934.1_Silent_p.A163A|SORL1_ENST00000534286.1_Silent_p.A458A|SORL1_ENST00000525532.1_Silent_p.A492A|SORL1_ENST00000532694.1_Silent_p.A394A	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1548	LDL-receptor class A 11.				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)		ATGAAAAGGCCTGCAGTGGTG	0.667000													6	23					0	0	0.00116845	0	0
LPIN1	23175	broad.mit.edu	37	2	11955296	11955296	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:11955296G>A	ENST00000256720.2	+	17	2317	c.2224G>A	c.(2224-2226)Gag>Aag	p.E742K	LPIN1_ENST00000425416.2_Missense_Mutation_p.E748K|LPIN1_ENST00000449576.2_Missense_Mutation_p.E827K|LPIN1_ENST00000396099.1_Missense_Mutation_p.E784K|LPIN1_ENST00000396097.1_Missense_Mutation_p.E472K|LPIN1_ENST00000404113.2_Missense_Mutation_p.E243K	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	742	C-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CTGGGTCAACGAGAGGGGCAC	0.592000													6	20					0	0	0.00198382	0	0
RSG1	79363	broad.mit.edu	37	1	16559500	16559500	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:16559500G>A	ENST00000375599.3	-	3	697	c.278C>T	c.(277-279)aCc>aTc	p.T93I		NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	93	Small GTPase-like.				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						AAATACCACGGTGGTCTGGAT	0.547000													14	91					0	0	0.000566183	0	0
CKAP2	26586	broad.mit.edu	37	13	53035978	53035978	+	Silent	SNP	C	C	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:53035978C>G	ENST00000378037.5	+	4	1110	c.1020C>G	c.(1018-1020)ccC>ccG	p.P340P	CKAP2_ENST00000258607.5_Silent_p.P339P|CKAP2_ENST00000378034.3_Silent_p.P339P|CKAP2_ENST00000490903.1_Silent_p.P291P	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	340					apoptosis|cell cycle	centrosome|microtubule|spindle pole		p.P339P(1)		breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		AGTCAGAGCCCGTTGACCAGC	0.388000													5	76					0	0	0.000602214	0	0
CELF4	56853	broad.mit.edu	37	18	34855192	34855192	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:34855192A>G	ENST00000420428.2	-	4	858	c.463T>C	c.(463-465)Ttc>Ctc	p.F155L	CELF4_ENST00000603232.1_Missense_Mutation_p.F155L|RP11-797E24.3_ENST00000588766.1_RNA|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000361795.5_Missense_Mutation_p.F154L|CELF4_ENST00000591287.1_Missense_Mutation_p.F154L|CELF4_ENST00000601019.1_Missense_Mutation_p.F154L|CELF4_ENST00000334919.5_Missense_Mutation_p.F145L|CELF4_ENST00000591282.1_Missense_Mutation_p.F155L|CELF4_ENST00000412753.1_Missense_Mutation_p.F155L|CELF4_ENST00000588597.1_Missense_Mutation_p.F144L	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	155	RRM 2.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						ATGCCCACGAAGAGTTTTCTA	0.622000													10	55					0	0	0.000673444	0	0
GGH	8836	broad.mit.edu	37	8	63939816	63939816	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:63939816A>G	ENST00000260118.6	-	4	686	c.284T>C	c.(283-285)tTc>tCc	p.F95S	GGH_ENST00000518113.1_5'UTR	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	95	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	TCCTCCAGGGAAAAGGATTCT	0.348000													12	105					0	0	0.00136819	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559124	140559124	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140559124C>T	ENST00000239444.2	+	1	1754	c.1509C>T	c.(1507-1509)tcC>tcT	p.S503S		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		503	Cadherin 5.				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)			CCCTCGCCTCCCTGGTCTCCA	0.667000													16	432					0	0	0.00121646	0	0
IL12B	3593	broad.mit.edu	37	5	158743783	158743783	+	Silent	SNP	G	G	A	rs150902695		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:158743783G>A	ENST00000231228.2	-	7	1352	c.897C>T	c.(895-897)atC>atT	p.I299I		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	299	Fibronectin type-III.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTTTGCGGCAGATGACCGTGG	0.537000											OREG0016989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	51					0	0	0.000157383	0	0
GBF1	8729	broad.mit.edu	37	10	104140106	104140106	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:104140106C>T	ENST00000369983.3	+	37	5236	c.4976C>T	c.(4975-4977)tCc>tTc	p.S1659F		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1659					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CACGCAGGCTCCAGCGACTTA	0.562000													9	71					0	0	0.000978159	0	0
AKAP1	8165	broad.mit.edu	37	17	55184485	55184485	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:55184485G>A	ENST00000337714.3	+	2	1893	c.1660G>A	c.(1660-1662)Gac>Aac	p.D554N	AKAP1_ENST00000539273.1_Missense_Mutation_p.D554N|AKAP1_ENST00000571629.1_Missense_Mutation_p.D554N|AKAP1_ENST00000572557.1_Missense_Mutation_p.D554N|AKAP1_ENST00000314126.3_Missense_Mutation_p.D554N	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	554					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GGAGTTGTCAGACTTGGGGGC	0.592000													16	81					0	0	0.00121646	0	0
EMR3	84658	broad.mit.edu	37	19	14752245	14752245	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:14752245G>A	ENST00000253673.5	-	10	1334	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	EMR3_ENST00000443157.2_Nonsense_Mutation_p.R286*|EMR3_ENST00000599900.1_Nonsense_Mutation_p.R197*|EMR3_ENST00000344373.4_Nonsense_Mutation_p.R360*	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	412					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GGTTCAGTTCGATCAATCCCC	0.532000													7	48					0	0	0.00198382	0	0
SERPINA3	12	broad.mit.edu	37	14	95081348	95081348	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:95081348G>A	ENST00000553947.1	+	5	1533	c.645G>A	c.(643-645)ggG>ggA	p.G215G	SERPINA3_ENST00000393080.4_Silent_p.G190G|SERPINA3_ENST00000467132.1_Silent_p.G190G|SERPINA3_ENST00000393078.3_Silent_p.G190G|SERPINA3_ENST00000556388.1_Intron			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	190					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GAACTAGGGGGAAAATCACAG	0.493000													12	117					0	0	0.00185496	0	0
FMR1NB	158521	broad.mit.edu	37	X	147106386	147106386	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:147106386G>A	ENST00000370467.3	+	5	708	c.632_splice	c.e5-1	p.E212_splice		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	212						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTTACAGCGAACCGGCCGA	0.368000													17	37					0	0	0.00152264	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37126554	37126554	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:37126554C>T	ENST00000336755.5	+	2	331	c.225C>T	c.(223-225)atC>atT	p.I75I	ZCCHC7_ENST00000322831.6_Silent_p.I74I|ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Intron	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	75							nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		AGAAGCTAATCGTCCTTTCAG	0.408000													13	137					0	0	0.00244969	0	0
FOXP1	27086	broad.mit.edu	37	3	71161711	71161711	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:71161711C>T	ENST00000318789.4	-	7	783	c.258G>A	c.(256-258)agG>agA	p.R86R	FOXP1_ENST00000484350.1_Silent_p.R86R|FOXP1_ENST00000475937.1_Silent_p.R86R|FOXP1_ENST00000498215.1_Silent_p.R86R|FOXP1_ENST00000491238.1_Silent_p.R88R|FOXP1_ENST00000468577.1_Silent_p.R86R|FOXP1_ENST00000493089.1_Silent_p.R86R	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	86	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GTTTGTCATTCCTCTTGGGAG	0.413000			T	PAX5	ALL								9	134					0	0	0.000978159	0	0
FBN3	84467	broad.mit.edu	37	19	8131007	8131007	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:8131007G>A	ENST00000600128.1	-	64	8640	c.8226C>T	c.(8224-8226)gtC>gtT	p.V2742V	FBN3_ENST00000601739.1_Silent_p.V2742V|FBN3_ENST00000270509.2_Silent_p.V2742V			Q75N90	FBN3_HUMAN	fibrillin 3	2742						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGTTTCCGCGGACGATGACGT	0.692000													7	48					0	0	0.000274275	0	0
CSF1	1435	broad.mit.edu	37	1	110464543	110464543	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:110464543G>A	ENST00000329608.6	+	5	862	c.471G>A	c.(469-471)aaG>aaA	p.K157K	CSF1_ENST00000526001.1_3'UTR|CSF1_ENST00000420111.2_Silent_p.K157K|CSF1_ENST00000369801.1_Silent_p.K157K|CSF1_ENST00000344188.5_Silent_p.K157K|CSF1_ENST00000369802.3_Silent_p.K157K	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	157					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		ATGAAACAAAGAATCTCCTTG	0.483000													12	67					0	0	0.000978159	0	0
POU2F3	25833	broad.mit.edu	37	11	120117175	120117175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:120117175G>A	ENST00000260264.4	+	2	86	c.52G>A	c.(52-54)Gat>Aat	p.D18N	POU2F3_ENST00000543440.2_Missense_Mutation_p.D16N	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	16					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GATGAGTGGGGATGTAGCCGA	0.473000													17	88					0	0	0.000566183	0	0
MORC1	27136	broad.mit.edu	37	3	108723961	108723961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:108723961G>A	ENST00000232603.5	-	19	2051	c.1969C>T	c.(1969-1971)Cca>Tca	p.P657S	MORC1_ENST00000483760.1_Missense_Mutation_p.P636S	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	657					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AGAGCTACTGGAATTCTCTGC	0.343000													10	73					0	0	0.000673444	0	0
CHST14	113189	broad.mit.edu	37	15	40764370	40764370	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:40764370C>T	ENST00000306243.5	+	1	1211	c.958C>T	c.(958-960)Cga>Tga	p.R320*	CHST14_ENST00000559991.1_Nonsense_Mutation_p.R295*	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	320					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		ACCTCACGTCCGATTTCCAGC	0.632000													7	48					0	0	0.00198382	0	0
TRIM55	84675	broad.mit.edu	37	8	67047381	67047381	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:67047381G>A	ENST00000315962.4	+	3	871	c.498G>A	c.(496-498)caG>caA	p.Q166Q	TRIM55_ENST00000350034.4_Silent_p.Q166Q|TRIM55_ENST00000353317.5_Silent_p.Q166Q|TRIM55_ENST00000276573.7_Silent_p.Q166Q	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	166						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	p.Q166Q(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			ATGTGTTCCAGAGACAGAAGG	0.592000													9	59					0	0	0.000442599	0	0
CTAGE6	340307	broad.mit.edu	37	7	143453552	143453552	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:143453552C>T	ENST00000470691.2	-	1	1237	c.1200G>A	c.(1198-1200)agG>agA	p.R400R		NM_178561.4	NP_848656.2			CTAGE family, member 6													Melanoma(164;0.0903)					CTGTTAATTTCCTATAGAGTT	0.348000													7	145					0	0	0.00198382	0	0
UBQLNL	143630	broad.mit.edu	37	11	5536370	5536370	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:5536370C>T	ENST00000380184.1	-	1	1565	c.1302G>A	c.(1300-1302)atG>atA	p.M434I	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	434										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AGGGGTTGTTCATAAGCAACT	0.512000													9	96					0	0	0.000978159	0	0
SV2B	9899	broad.mit.edu	37	15	91827361	91827361	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:91827361C>G	ENST00000394232.1	+	11	2088	c.1618C>G	c.(1618-1620)Ctc>Gtc	p.L540V	SV2B_ENST00000545111.2_Missense_Mutation_p.L389V|SV2B_ENST00000330276.4_Missense_Mutation_p.L540V	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	540					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CCTGATTTACCTCGTCAGCTT	0.502000													32	342					0	0	0.00128727	0	0
GABRR1	2569	broad.mit.edu	37	6	89910965	89910965	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:89910965G>A	ENST00000435811.1	-	2	596	c.142C>T	c.(142-144)Cct>Tct	p.P48S	GABRR1_ENST00000454853.2_Missense_Mutation_p.P65S|GABRR1_ENST00000369451.3_5'UTR	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	65					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.P59S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GTGATGTCAGGACTTCGTCTC	0.453000													6	80					0	0	0.00198382	0	0
ANKIB1	54467	broad.mit.edu	37	7	91936884	91936884	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:91936884G>T	ENST00000265742.3	+	3	776	c.400G>T	c.(400-402)Gag>Tag	p.E134*		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	134							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGGTGAATATGAGAGAGCAGC	0.428000													13	57					1.05317e-09	4.61658e-09	0.00244969	1	0
SOCS6	9306	broad.mit.edu	37	18	67992275	67992275	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:67992275C>T	ENST00000397942.3	+	2	687	c.371C>T	c.(370-372)tCc>tTc	p.S124F	SOCS6_ENST00000582322.1_Missense_Mutation_p.S124F	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	124					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CCGATAAGGTCCACGTCGCTC	0.617000													5	28					0	0	0.000602214	0	0
CACNA1I	8911	broad.mit.edu	37	22	40030577	40030577	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:40030577G>A	ENST00000336649.4	+	7	588	c.588G>A	c.(586-588)cgG>cgA	p.R196R	CACNA1I_ENST00000404898.1_Silent_p.R196R|CACNA1I_ENST00000400164.3_Silent_p.R196R|CACNA1I_ENST00000402142.3_Silent_p.R196R|CACNA1I_ENST00000407673.1_Silent_p.R196R|CACNA1I_ENST00000401624.1_Silent_p.R196R			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	196					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CAGGTATGCGGATCCTGGTGA	0.557000													36	130					0	0	0.00195071	0	0
OR10A5	144124	broad.mit.edu	37	11	6867228	6867228	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:6867228C>T	ENST00000299454.4	+	1	346	c.315C>T	c.(313-315)ttC>ttT	p.F105F	OR10A5_ENST00000379831.2_Silent_p.F109F			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGTATTTCTTCTTCTTCTTTG	0.517000													16	69					0	0	0.00152264	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531512	140531512	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140531512C>T	ENST00000231136.1	+	1	1674	c.1674C>T	c.(1672-1674)ttC>ttT	p.F558F	PCDHB6_ENST00000543635.1_Silent_p.F422F	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		558	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGCCCTTCGTGTTGTACC	0.716000													9	54					0	0	0.000274275	0	0
ZNF556	80032	broad.mit.edu	37	19	2873557	2873557	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:2873557C>T	ENST00000586426.1	+	2	154	c.67C>T	c.(67-69)Cct>Tct	p.P23S	ZNF556_ENST00000307635.2_Missense_Mutation_p.P23S			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		CTTGCTGAATCCTGCTCAGAG	0.463000													15	79					0	0	0.000422831	0	0
OR9G4	283189	broad.mit.edu	37	11	56510996	56510996	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:56510996C>T	ENST00000302957.3	-	1	291	c.292G>A	c.(292-294)Gcc>Acc	p.A98T		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ACACAACTGGCCAGGATTTTG	0.453000													11	83					0	0	0.000308642	0	0
FLG	2312	broad.mit.edu	37	1	152286427	152286427	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:152286427C>T	ENST00000368799.1	-	3	970	c.935G>A	c.(934-936)aGg>aAg	p.R312K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	312	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCAGAGTGCCTCTCAGAGTC	0.557000									Ichthyosis				8	142					0	0	0.000157383	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21349910	21349910	+	Missense_Mutation	SNP	G	G	A	rs11045853	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:21349910G>A	ENST00000256958.2	+	8	854	c.758G>A	c.(757-759)cGa>cAa	p.R253Q		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	253					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.R253P(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ACTGATTCTCGATGGGTTGGA	0.363000													8	116					0	0	0.000442599	0	0
P2RX2	22953	broad.mit.edu	37	12	133197083	133197083	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:133197083G>A	ENST00000389110.3	+	7	725	c.688G>A	c.(688-690)Gag>Aag	p.E230K	P2RX2_ENST00000343948.4_Missense_Mutation_p.E230K|P2RX2_ENST00000449132.2_Missense_Mutation_p.R194Q|P2RX2_ENST00000350048.5_Missense_Mutation_p.E206K|P2RX2_ENST00000351222.4_Missense_Mutation_p.E138K|P2RX2_ENST00000348800.5_Missense_Mutation_p.E230K|P2RX2_ENST00000352418.4_Missense_Mutation_p.E158K	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	230					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CACGTTCCACGAGGCCTCCGA	0.627000													8	27					0	0	0.000274275	0	0
UNC13C	440279	broad.mit.edu	37	15	54306082	54306082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:54306082G>A	ENST00000545554.1	+	1	982	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	UNC13C_ENST00000537900.1_Missense_Mutation_p.E328K|UNC13C_ENST00000260323.11_Missense_Mutation_p.E328K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	328					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAATGTGACTGAAGAAAGATT	0.358000													9	50					0	0	0.000274275	0	0
AEN	64782	broad.mit.edu	37	15	89172531	89172531	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:89172531C>T	ENST00000332810.3	+	3	766	c.615C>T	c.(613-615)gtC>gtT	p.V205V	AEN_ENST00000379231.3_Silent_p.V205V	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	205	Exonuclease.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						TCAAGTATGTCCACCCTCGGA	0.622000													7	75					0	0	0.000274275	0	0
STPG2	285555	broad.mit.edu	37	4	98902319	98902319	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:98902319C>T	ENST00000295268.3	-	6	852	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K		NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2									p.E255K(1)									CCTGGCATTTCCTCTGTCCTG	0.368000													12	142					0	0	0.000308642	0	0
GBAS	2631	broad.mit.edu	37	7	56051436	56051436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:56051436C>T	ENST00000322090.3	+	6	489	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C	GBAS_ENST00000446778.1_Missense_Mutation_p.R115C	NM_001483.2	NP_001474.1	O75323	NIPS2_HUMAN	glioblastoma amplified sequence	154						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTTGGAATTTCGTAAGGCAAG	0.383000													12	93					0	0	0.000422831	0	0
MYH4	4622	broad.mit.edu	37	17	10355449	10355449	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:10355449C>T	ENST00000255381.2	-	27	3657	c.3547G>A	c.(3547-3549)Gaa>Aaa	p.E1183K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1183					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTGGACTCTTCCAGGTCCCTG	0.582000													13	48					0	0	0.000308642	0	0
CLEC4E	26253	broad.mit.edu	37	12	8692528	8692528	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:8692528G>A	ENST00000299663.3	-	2	218	c.53C>T	c.(52-54)tCt>tTt	p.S18F	CLEC4E_ENST00000446457.2_Missense_Mutation_p.S18F|CLEC4E_ENST00000545274.1_Missense_Mutation_p.S18F	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	18						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					CATTTGGGAAGAGAAGCATCC	0.408000													8	154					0	0	0.000274275	0	0
PCDH18	54510	broad.mit.edu	37	4	138449898	138449898	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:138449898G>A	ENST00000344876.4	-	2	2950	c.2564C>T	c.(2563-2565)tCc>tTc	p.S855F	PCDH18_ENST00000510305.1_Missense_Mutation_p.S66F|PCDH18_ENST00000507846.1_Missense_Mutation_p.S634F|PCDH18_ENST00000412923.2_Missense_Mutation_p.S854F|PCDH18_ENST00000511115.1_Missense_Mutation_p.S35F	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	855					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTAGCTCCTGGAATATTTGTT	0.363000													9	96					0	0	0.000673444	0	0
LRRC2	79442	broad.mit.edu	37	3	46569019	46569019	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:46569019G>A	ENST00000395905.3	-	7	1218	c.826C>T	c.(826-828)Ccc>Tcc	p.P276S	LRRC2_ENST00000296144.3_Missense_Mutation_p.P276S	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	276										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		ATGGAATAGGGAAGGTAGGTC	0.458000													6	25					0	0	0.00198382	0	0
OXGR1	27199	broad.mit.edu	37	13	97639725	97639725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:97639725C>T	ENST00000298440.1	-	4	532	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	OXGR1_ENST00000543457.1_Missense_Mutation_p.E97K	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	97						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			ATCCAGTTTTCGCCACTGGCA	0.473000													7	33					0	0	0.000157383	0	0
E2F3	1871	broad.mit.edu	37	6	20402521	20402521	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:20402521G>A	ENST00000346618.3	+	1	124	c.58G>A	c.(58-60)Gag>Aag	p.E20K		NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	20					G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CGGGGGTGGGGAGGGGGCGGC	0.652000													14	125					0	0	0.000958276	0	0
SEC14L4	284904	broad.mit.edu	37	22	30887678	30887678	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:30887678C>T	ENST00000392772.2	-	11	1078	c.801G>A	c.(799-801)aaG>aaA	p.K267K	SEC14L4_ENST00000255858.7_Silent_p.K321K|SEC14L4_ENST00000540456.1_Silent_p.K306K|SEC14L4_ENST00000381982.3_Silent_p.K321K			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	321	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CCATCTTGGTCTTCAGGAAAA	0.617000													12	48					0	0	0.00244969	0	0
SLC35D3	340146	broad.mit.edu	37	6	137245231	137245231	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:137245231C>T	ENST00000331858.4	+	2	813	c.648C>T	c.(646-648)acC>acT	p.T216T		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	216					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		ACGCCTGGACCTTCCCGGGCT	0.647000													5	20					0	0	0.000602214	0	0
NXF3	56000	broad.mit.edu	37	X	102332623	102332623	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:102332623C>T	ENST00000395065.3	-	18	1604	c.1503G>A	c.(1501-1503)ggG>ggA	p.G501G	NXF3_ENST00000425644.1_Silent_p.G173G|NXF3_ENST00000497850.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	501						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CACTCTGGGTCCCTTGGTGGC	0.572000													6	40					0	0	0.000157383	0	0
PLA2G2C	391013	broad.mit.edu	37	1	20499350	20499350	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:20499350C>T	ENST00000429261.2	-	3	280	c.220G>A	c.(220-222)Gag>Aag	p.E74K	PLA2G2C_ENST00000247992.5_Missense_Mutation_p.E75K|PLA2G2C_ENST00000495760.2_Intron					phospholipase A2, group IIC											NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)	7		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAGCTGAACTCCTTCAGCTTC	0.527000													6	56					0	0	0.00198382	0	0
ITGA8	8516	broad.mit.edu	37	10	15590479	15590479	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:15590479C>T	ENST00000378076.3	-	27	3208	c.2855G>A	c.(2854-2856)cGa>cAa	p.R952Q		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	952					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGCCCATAATCGTGACCTGAC	0.478000													11	51					0	0	0.00136819	0	0
PAM	5066	broad.mit.edu	37	5	102260734	102260734	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:102260734C>T	ENST00000438793.3	+	5	900	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	PAM_ENST00000379787.4_5'UTR|PAM_ENST00000455264.2_Missense_Mutation_p.R144W|PAM_ENST00000348126.2_Missense_Mutation_p.R144W|PAM_ENST00000346918.2_Missense_Mutation_p.R144W|PAM_ENST00000304400.7_Missense_Mutation_p.R144W|PAM_ENST00000274392.9_Missense_Mutation_p.R47W	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	144	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TCCCCCTACCCGGCTCCCCAA	0.408000													29	87					0	0	0.000692331	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586977	15586977	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:15586977G>A	ENST00000292609.4	-	2	633	c.504C>T	c.(502-504)acC>acT	p.T168T	PGLYRP2_ENST00000340880.4_Silent_p.T168T			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	168					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CTGGGGAGGAGGTGGCTCTTA	0.532000													7	55					0	0	0.00198382	0	0
OR5D14	219436	broad.mit.edu	37	11	55563361	55563361	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:55563361G>A	ENST00000335605.1	+	1	330	c.330G>A	c.(328-330)gtG>gtA	p.V110V		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GCACTGCTGTGGTGACAGAGT	0.493000													5	12					0	0	0.000602214	0	0
TRIM45	80263	broad.mit.edu	37	1	117661046	117661046	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:117661046G>A	ENST00000256649.4	-	2	1358	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W	TRIM45_ENST00000369461.3_Missense_Mutation_p.R221W|TRIM45_ENST00000369464.3_Missense_Mutation_p.R278W	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	278						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		GAGAATGTCCGGACATCAGCT	0.567000													8	76					0	0	0.000442599	0	0
CADPS2	93664	broad.mit.edu	37	7	122194651	122194651	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:122194651G>A	ENST00000334010.7	-	8	1849	c.1428C>T	c.(1426-1428)atC>atT	p.I476I	CADPS2_ENST00000476131.1_5'UTR|CADPS2_ENST00000313070.7_Silent_p.I476I|CADPS2_ENST00000412584.2_Silent_p.I476I|CADPS2_ENST00000449022.2_Silent_p.I476I	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	476					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CTGCCAGTTTGATTTTTAAGT	0.358000													7	56					0	0	0.000157383	0	0
PROL1	58503	broad.mit.edu	37	4	71275270	71275270	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:71275270C>T	ENST00000399575.2	+	3	399	c.225C>T	c.(223-225)ttC>ttT	p.F75F	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	75	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CATCTTCTTTCTCTCGATTTA	0.463000													16	146					0	0	0.00074312	0	0
SPG11	80208	broad.mit.edu	37	15	44884632	44884632	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:44884632G>A	ENST00000261866.7	-	27	4656	c.4640C>T	c.(4639-4641)tCc>tTc	p.S1547F	SPG11_ENST00000535302.2_Missense_Mutation_p.S1547F|SPG11_ENST00000427534.2_Missense_Mutation_p.S1547F|SPG11_ENST00000558319.1_Missense_Mutation_p.S1547F	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1547					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)		TAGTAACGGGGAATCCTTTGA	0.303000													13	84					0	0	0.00244969	0	0
SPRR3	6707	broad.mit.edu	37	1	152975751	152975751	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:152975751C>T	ENST00000331860.3	+	3	405	c.255C>T	c.(253-255)gtC>gtT	p.V85V	SPRR3_ENST00000295367.4_Silent_p.V85V|SPRR3_ENST00000542696.1_Silent_p.V85V	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	85	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTACCAAGGTCCCTGAGCCAG	0.602000													8	27					0	0	0.000673444	0	0
CHIT1	1118	broad.mit.edu	37	1	203186021	203186021	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:203186021T>C	ENST00000367229.1	-	11	1431	c.1397A>G	c.(1396-1398)aAt>aGt	p.N466S	CHIT1_ENST00000255427.3_Missense_Mutation_p.N447S|CHIT1_ENST00000535569.1_Missense_Mutation_p.N457S|CHIT1_ENST00000484834.1_Intron	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	466	Chitin-binding type-2.				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						AGCGACTCAATTCCAGGTGCA	0.612000											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	46					0	0	0.000157383	0	0
FAT3	120114	broad.mit.edu	37	11	92531727	92531727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:92531727C>T	ENST00000298047.6	+	9	5565	c.5548C>T	c.(5548-5550)Cat>Tat	p.H1850Y	FAT3_ENST00000525166.1_Missense_Mutation_p.H1700Y|FAT3_ENST00000409404.2_Missense_Mutation_p.H1850Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1850	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTCCATTTTCATGTGCATGT	0.463000										TCGA Ovarian(4;0.039)			24	251					0	0	0.00127121	0	0
LILRA6	79168	broad.mit.edu	37	19	54744754	54744754	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:54744754G>A	ENST00000440558.2	-	5	956	c.908C>T	c.(907-909)tCc>tTc	p.S303F	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.S303F|LILRA6_ENST00000396365.2_Missense_Mutation_p.S303F|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.S303F|LILRA6_ENST00000391735.3_3'UTR					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCACTCGGAGGAGAGGTTGTG	0.682000													7	78					0	0	0.00185496	0	0
NOP14	8602	broad.mit.edu	37	4	2941320	2941320	+	Missense_Mutation	SNP	C	C	T	rs146093320	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:2941320C>T	ENST00000416614.2	-	16	2317	c.2252G>A	c.(2251-2253)cGg>cAg	p.R751Q	NOP14_ENST00000398071.4_Missense_Mutation_p.R751Q|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000512802.1_RNA|NOP14-AS1_ENST00000512712.2_RNA|NOP14-AS1_ENST00000507999.1_RNA|NOP14_ENST00000507120.1_5'UTR|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14-AS1_ENST00000507702.1_RNA|NOP14_ENST00000314262.6_Missense_Mutation_p.R751Q|NOP14_ENST00000502735.1_Missense_Mutation_p.R751Q			P78316	NOP14_HUMAN	NOP14 nucleolar protein	751					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						GGTCAGCGGCCGGCAGAGCTG	0.587000													8	50					0	0	0.000274275	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353946	77353946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:77353946C>T	ENST00000282849.5	-	16	2750	c.2332G>A	c.(2332-2334)Gaa>Aaa	p.E778K		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	778	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TCCTGGATTTCGATGCTTCGG	0.522000													17	64					0	0	0.00188189	0	0
CFHR5	81494	broad.mit.edu	37	1	196977706	196977706	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:196977706G>A	ENST00000367414.5	+	10	1731	c.1675G>A	c.(1675-1677)Gat>Aat	p.D559N	CFHR5_ENST00000256785.4_Missense_Mutation_p.D535N	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	535	Sushi 9.				complement activation, alternative pathway	extracellular region		p.D535N(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AAAAACAGGGGATGCTGTTGA	0.363000													18	45					0	0	0.000958276	0	0
INADL	10207	broad.mit.edu	37	1	62582814	62582814	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:62582814G>A	ENST00000371158.2	+	37	4928	c.4814G>A	c.(4813-4815)gGa>gAa	p.G1605E	INADL_ENST00000543708.1_Missense_Mutation_p.G419E	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1605	PDZ 9.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TGTGCACAGGGACTTGTGCAG	0.463000													10	45					0	0	0.000978159	0	0
HAVCR1	26762	broad.mit.edu	37	5	156482224	156482224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:156482224C>T	ENST00000339252.3	-	2	899	c.367G>A	c.(367-369)Gag>Aag	p.E123K	HAVCR1_ENST00000522693.1_Missense_Mutation_p.E123K|HAVCR1_ENST00000523175.1_Missense_Mutation_p.E123K|HAVCR1_ENST00000425854.1_Missense_Mutation_p.E123K|HAVCR1_ENST00000544197.1_Missense_Mutation_p.E123K	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	123					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCACAATCTCCAATGATACG	0.378000													15	229					0	0	0.00244969	0	0
VWA5A	4013	broad.mit.edu	37	11	123988955	123988955	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:123988955G>A	ENST00000456829.2	+	5	557	c.306G>A	c.(304-306)ggG>ggA	p.G102G	VWA5A_ENST00000361352.5_Silent_p.G102G|VWA5A_ENST00000392744.4_Silent_p.G118G|VWA5A_ENST00000360334.4_Silent_p.G102G|VWA5A_ENST00000449321.1_Silent_p.G102G|VWA5A_ENST00000392748.1_Silent_p.G102G	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	102	VIT.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TATTGGAGGGGGACAGCAGCT	0.577000													5	42					0	0	0.00198382	0	0
AKAP3	10566	broad.mit.edu	37	12	4737087	4737087	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:4737087T>G	ENST00000545990.2	-	5	1505	c.981A>C	c.(979-981)aaA>aaC	p.K327N	AKAP3_ENST00000228850.1_Missense_Mutation_p.K327N	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	327					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AGACCACCTCTTTTGCATGCT	0.478000													6	32					0	0	0.00198382	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468343	35468343	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:35468343C>G	ENST00000381151.3	+	2	1358	c.846C>G	c.(844-846)atC>atG	p.I282M	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	282						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						ACCAAGTCATCGTGCAGAGGG	0.483000													29	249					0	0	0.0024448	0	0
OR12D3	81797	broad.mit.edu	37	6	29342165	29342165	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:29342165C>T	ENST00000396806.3	-	1	903	c.900G>A	c.(898-900)ctG>ctA	p.L300L	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						AGATTTTCTTCAGAGCCATCA	0.423000													17	67					0	0	0.000958276	0	0
DSE	29940	broad.mit.edu	37	6	116747768	116747768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:116747768C>T	ENST00000331677.3	+	4	892	c.448C>T	c.(448-450)Ccg>Tcg	p.P150S	DSE_ENST00000537543.1_Missense_Mutation_p.P169S|DSE_ENST00000606265.1_3'UTR|DSE_ENST00000452085.3_Missense_Mutation_p.P150S|DSE_ENST00000359564.2_Missense_Mutation_p.P150S			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	150					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GGATGAGGTCCCGCTTGCTCA	0.438000													16	68					0	0	0.00074312	0	0
RNF17	56163	broad.mit.edu	37	13	25362210	25362210	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:25362210G>A	ENST00000255324.5	+	7	748	c.696G>A	c.(694-696)gaG>gaA	p.E232E	RNF17_ENST00000381921.1_Silent_p.E232E|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.5_Silent_p.E233E	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	232					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACATTGAAGAGAAAAAAAATA	0.308000													19	94					0	0	0.00152264	0	0
PDE4D	5144	broad.mit.edu	37	5	58271613	58271613	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:58271613G>A	ENST00000340635.6	-	14	2059	c.1884C>T	c.(1882-1884)ctC>ctT	p.L628L	PDE4D_ENST00000546160.1_Silent_p.L567L|PDE4D_ENST00000507116.1_Silent_p.L564L|PDE4D_ENST00000405755.2_Silent_p.L506L|PDE4D_ENST00000503258.1_Silent_p.L498L|PDE4D_ENST00000502484.2_Silent_p.L567L|PDE4D_ENST00000360047.5_Silent_p.L492L|PDE4D_ENST00000358923.6_Silent_p.L326L|PDE4D_ENST00000317118.8_Silent_p.L337L	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	628					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	GGTACAGCTGGAGAGGCTTTG	0.493000													11	46					0	0	0.00244969	0	0
ABCC8	6833	broad.mit.edu	37	11	17418816	17418816	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:17418816C>T	ENST00000302539.4	-	32	4040	c.3915G>A	c.(3913-3915)atG>atA	p.M1305I	ABCC8_ENST00000389817.3_Missense_Mutation_p.M1304I	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1304	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GCTGGAGCTCCATGTCTGCCA	0.612000													18	93					0	0	0.00229938	0	0
HCAR3	8843	broad.mit.edu	37	12	123200397	123200397	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:123200397G>A	ENST00000528880.2	-	1	1042	c.888C>T	c.(886-888)ttC>ttT	p.F296F	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	296						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	ATGGGCTGGAGAAGTAGTACA	0.527000													8	15					0	0	0.000157383	0	0
C19orf55	148137	broad.mit.edu	37	19	36255943	36255943	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:36255943C>T	ENST00000544099.1	+	7	698	c.635C>T	c.(634-636)tCc>tTc	p.S212F	C19orf55_ENST00000396908.4_Missense_Mutation_p.S212F			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	212	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCAAAGCCTCCATCTCCTCC	0.632000													17	106					0	0	0.00121646	0	0
ITK	3702	broad.mit.edu	37	5	156649985	156649985	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:156649985G>A	ENST00000422843.3	+	6	760	c.608G>A	c.(607-609)aGt>aAt	p.S203N	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	203	SH3.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGCTGGACAGTTCTGAGATT	0.493000			T	SYK	peripheral T-cell lymphoma								26	249					0	0	0.00209593	0	0
TTN	7273	broad.mit.edu	37	2	179640629	179640629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:179640629C>T	ENST00000589042.1	-	28	6186	c.5962G>A	c.(5962-5964)Gaa>Aaa	p.E1988K	TTN_ENST00000591111.1_Missense_Mutation_p.E1988K|TTN_ENST00000359218.5_Missense_Mutation_p.E1942K|TTN_ENST00000460472.2_Missense_Mutation_p.E1942K|TTN_ENST00000360870.5_Missense_Mutation_p.E1988K|TTN_ENST00000342992.6_Missense_Mutation_p.E1988K|TTN_ENST00000342175.6_Missense_Mutation_p.E1942K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1741							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCACTTTTTCATGGGTAATT	0.443000													17	92					0	0	0.000566183	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454471	84454471	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:84454471C>T	ENST00000377084.2	-	1	2057	c.1172G>A	c.(1171-1173)cGa>cAa	p.R391Q		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	391						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTGCGATTTTCGGATGCTGTG	0.448000													17	130					0	0	0.000566183	0	0
LAMB4	22798	broad.mit.edu	37	7	107706844	107706844	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:107706844C>T	ENST00000388781.3	-	20	2731	c.2648G>A	c.(2647-2649)gGa>gAa	p.G883E	LAMB4_ENST00000205386.4_Missense_Mutation_p.G883E|LAMB4_ENST00000388780.3_Missense_Mutation_p.G883E	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	883	Laminin EGF-like 8.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGTAAAGCCTCCACAATTGAA	0.428000													9	51					0	0	0.000978159	0	0
FGF12	2257	broad.mit.edu	37	3	191861858	191861858	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:191861858C>T	ENST00000454309.2	-	5	1497	c.672G>A	c.(670-672)agG>agA	p.R224R	FGF12_ENST00000445105.1_Silent_p.R162R|FGF12_ENST00000450716.1_Silent_p.R162R|FGF12_ENST00000430714.1_Silent_p.R125R|FGF12_ENST00000264730.3_Silent_p.R162R	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	224					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		CAGAACTTTTCCTTGAACGCC	0.418000													16	159					0	0	0.00152264	0	0
CES1	1066	broad.mit.edu	37	16	55860125	55860125	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:55860125C>T	ENST00000422046.2	-	3	621	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	CES1_ENST00000361503.4_Missense_Mutation_p.E114K|CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Missense_Mutation_p.E115K			P23141	EST1_HUMAN	carboxylesterase 1	114					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.E115Q(1)							all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	AGACAGTCTTCAGAAAGCTTG	0.507000													23	141					0	0	0.00229938	0	0
DNAJC16	23341	broad.mit.edu	37	1	15892438	15892438	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:15892438C>T	ENST00000375847.3	+	12	1787	c.1623C>T	c.(1621-1623)tcC>tcT	p.S541S	DNAJC16_ENST00000375849.1_Silent_p.S541S|RP4-680D5.8_ENST00000606186.1_RNA|DNAJC16_ENST00000375838.1_Silent_p.S541S|DNAJC16_ENST00000483270.1_3'UTR	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	541					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CCCTGCTGTCCCTGATCTTCT	0.423000													21	446					0	0	0.00278032	0	0
TNFRSF17	608	broad.mit.edu	37	16	12061632	12061632	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:12061632G>A	ENST00000053243.1	+	3	701	c.483G>A	c.(481-483)acG>acA	p.T161T	RP11-166B2.1_ENST00000532936.1_Intron|TNFRSF17_ENST00000396495.3_Silent_p.T112T	NM_001192.2	NP_001183.2	Q02223	TNR17_HUMAN	tumor necrosis factor receptor superfamily, member 17	161					cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane				large_intestine(3)|lung(3)	6						CCACGAAAACGAATGACTATT	0.483000			T	IL2	intestinal T-cell lymphoma								17	71					0	0	0.000566183	0	0
PANK4	55229	broad.mit.edu	37	1	2452230	2452230	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:2452230G>A	ENST00000378466.3	-	4	550	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	PANK4_ENST00000435556.3_Nonsense_Mutation_p.Q141*	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	180					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TGGTTGGTCTGGAACCGGAAC	0.522000													11	75					0	0	0.000673444	0	0
APOB	338	broad.mit.edu	37	2	21260887	21260887	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:21260887G>A	ENST00000233242.1	-	5	607	c.480C>T	c.(478-480)atC>atT	p.I160I	APOB_ENST00000399256.4_Silent_p.I160I	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	160	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGGCAGAAATGATGCCCCTCT	0.483000													18	350					0	0	0.00152264	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919744	12919744	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:12919744G>A	ENST00000240189.2	+	3	571	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	162										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCCAGGATGAATGCCTGAG	0.468000													20	211					0	0	0.00047179	0	0
BRWD1	54014	broad.mit.edu	37	21	40670378	40670378	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:40670378G>A	ENST00000342449.3	-	5	407	c.329C>T	c.(328-330)tCt>tTt	p.S110F	BRWD1_ENST00000341322.4_Missense_Mutation_p.S110F|BRWD1_ENST00000470108.1_5'UTR|BRWD1_ENST00000333229.2_Missense_Mutation_p.S110F|BRWD1_ENST00000380800.3_Missense_Mutation_p.S110F	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACGTAGCAAAGACTGCCTTCC	0.368000													17	231					0	0	0.000958276	0	0
OR10T2	128360	broad.mit.edu	37	1	158368669	158368669	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:158368669T>A	ENST00000334438.1	-	1	587	c.588A>T	c.(586-588)aaA>aaT	p.K196N		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AAGCCAGCTCTTTCACATGGG	0.433000													9	27					0	0	0.000274275	0	0
FMN2	56776	broad.mit.edu	37	1	240370649	240370649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:240370649C>T	ENST00000319653.9	+	5	2767	c.2537C>T	c.(2536-2538)tCc>tTc	p.S846F		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	846	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CACTCTGTTTCCTCTGCCTTT	0.567000													10	41					0	0	0.000442599	0	0
USP26	83844	broad.mit.edu	37	X	132159790	132159790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:132159790C>T	ENST00000511190.1	-	6	2928	c.2459G>A	c.(2458-2460)gGa>gAa	p.G820E	USP26_ENST00000406273.1_Missense_Mutation_p.G820E|USP26_ENST00000370832.1_Missense_Mutation_p.G820E	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	820					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GGTATGATCTCCCTTATCATC	0.383000													5	42					0	0	0.00116845	0	0
PLCE1	51196	broad.mit.edu	37	10	96030337	96030337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:96030337G>A	ENST00000260766.3	+	18	5118	c.4484G>A	c.(4483-4485)cGa>cAa	p.R1495Q	PLCE1_ENST00000371375.1_Missense_Mutation_p.R1187Q|PLCE1_ENST00000371380.2_Missense_Mutation_p.R1495Q|PLCE1_ENST00000371385.3_Missense_Mutation_p.R1187Q	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1495	PI-PLC X-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.R1495Q(3)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCTCAGCAACGAAAAATGGCA	0.418000													10	90					0	0	0.000978159	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33751618	33751618	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:33751618G>A	ENST00000504830.1	-	3	860	c.525C>T	c.(523-525)ttC>ttT	p.F175F	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000515401.1_Silent_p.F175F|ADAMTS12_ENST00000352040.3_Silent_p.F175F	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	175					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CGGGTTCAATGAAAAAGTCTC	0.418000										HNSCC(64;0.19)			19	83					0	0	0.00278032	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86568126	86568126	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:86568126G>A	ENST00000450689.2	-	7	1183	c.998C>T	c.(997-999)tCa>tTa	p.S333L	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.S333L|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.S166L|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.S93L	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	333						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					AGTTCTACCTGAAAATTGAGA	0.378000													6	35					0	0	0.00198382	0	0
CDKL5	6792	broad.mit.edu	37	X	18627627	18627627	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:18627627C>T	ENST00000379989.3	+	15	2374	c.2089C>T	c.(2089-2091)Ccc>Tcc	p.P697S	CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.P697S	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	697					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TGGCACAGCCCCCAAAGAAAA	0.463000													9	38					0	0	0.000978159	0	0
OR51V1	283111	broad.mit.edu	37	11	5221210	5221210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:5221210C>T	ENST00000321255.1	-	1	720	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCTCTCTTCCTGAGAGGCA	0.453000													6	63					0	0	0.00116845	0	0
RNF17	56163	broad.mit.edu	37	13	25399799	25399799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:25399799G>A	ENST00000255324.5	+	16	2186	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K	RNF17_ENST00000381921.1_Missense_Mutation_p.E712K	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	712					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GACAATCGAGGAATTCTATAA	0.353000													21	87					0	0	0.00152264	0	0
GPR112	139378	broad.mit.edu	37	X	135429117	135429117	+	Silent	SNP	G	G	A	rs148424660	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:135429117G>A	ENST00000394143.1	+	6	3543	c.3252G>A	c.(3250-3252)ttG>ttA	p.L1084L	GPR112_ENST00000412101.1_Silent_p.L879L|GPR112_ENST00000394141.1_Silent_p.L879L|GPR112_ENST00000370652.1_Silent_p.L1084L|GPR112_ENST00000287534.4_Silent_p.L1021L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1084					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATGGAGACTTGATTCGTACCA	0.458000													16	42					0	0	0.000566183	0	0
PLCH1	23007	broad.mit.edu	37	3	155200482	155200482	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:155200482C>T	ENST00000460012.1	-	23	3600	c.3243G>A	c.(3241-3243)ggG>ggA	p.G1081G	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000340059.7_Silent_p.G1119G|PLCH1_ENST00000334686.6_Silent_p.G1081G|PLCH1_ENST00000414191.1_Silent_p.G1081G			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1119					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGATGCTTTTCCCTTCCACAA	0.458000													8	72					0	0	0.000274275	0	0
LOC101928063	101928063	broad.mit.edu	37	19	44503321	44503321	+	RNA	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:44503321C>T	ENST00000586860.1	-	0	276				RP11-15A1.7_ENST00000589021.1_RNA																							GAAAGCAGTTCCTTTTGAGTT	0.348000													9	26					0	0	0.000274275	0	0
HOXA7	3204	broad.mit.edu	37	7	27195938	27195938	+	Missense_Mutation	SNP	G	G	A	rs148543265		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:27195938G>A	ENST00000242159.3	-	1	360	c.227C>T	c.(226-228)gCc>gTc	p.A76V		NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	76				DA -> RR (in Ref. 8; AAD00727).	angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GTTGCCGTAGGCGTCGGCGCC	0.672000													7	33					0	0	0.00198382	0	0
WDR64	128025	broad.mit.edu	37	1	241959637	241959637	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:241959637G>A	ENST00000366552.2	+	26	3334	c.3127G>A	c.(3127-3129)Gga>Aga	p.G1043R	WDR64_ENST00000437684.2_Missense_Mutation_p.G876R	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1043										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TGGCATTACAGGAAAGAAGAA	0.388000													15	41					0	0	0.00074312	0	0
IL23R	149233	broad.mit.edu	37	1	67648522	67648522	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:67648522C>T	ENST00000347310.5	+	4	542	c.371C>T	c.(370-372)cCg>cTg	p.P124L	C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Missense_Mutation_p.P124L	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	124	Fibronectin type-III 1.				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						GTTGCAGATCCGCCAGATATT	0.438000													9	147					0	0	0.000673444	0	0
ZNF334	55713	broad.mit.edu	37	20	45131407	45131407	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:45131407T>G	ENST00000457685.2	-	6	1780	c.457A>C	c.(457-459)Aat>Cat	p.N153H	ZNF334_ENST00000347606.4_Missense_Mutation_p.N191H|ZNF334_ENST00000593880.1_Missense_Mutation_p.N214H			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	191					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)				TCGTTTTGATTGCTGGCTTTC	0.358000													13	104					0	0	0.00244969	0	0
NCOA2	10499	broad.mit.edu	37	8	71068906	71068906	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:71068906G>A	ENST00000452400.2	-	11	1875	c.1694C>T	c.(1693-1695)tCc>tTc	p.S565F	NCOA2_ENST00000524223.1_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	565					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			ATTAACTGGGGAGTTTTGCAA	0.507000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								14	52					0	0	0.000308642	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51048155	51048155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:51048155G>A	ENST00000008876.5	+	9	1432	c.1432G>A	c.(1432-1434)Gga>Aga	p.G478R	MAPK8IP2_ENST00000442429.2_Intron|MAPK8IP2_ENST00000329492.3_Intron|MAPK8IP2_ENST00000341339.4_Intron|MAPK8IP2_ENST00000399908.2_Intron|MAPK8IP2_ENST00000399912.1_Intron			Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	316	Asp/Glu-rich (acidic).				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGCCCCGCAAGGAGCTGCTTT	0.597000													4	8					0	0	0.00024832	0	0
CASD1	64921	broad.mit.edu	37	7	94178869	94178869	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:94178869C>A	ENST00000297273.4	+	14	2025	c.1738C>A	c.(1738-1740)Ctt>Att	p.L580I		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	580						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GATCTTTTCTCTTTGGCCATT	0.328000													21	97					2.98393e-07	1.30424e-06	0.00278032	1	0
SREK1	140890	broad.mit.edu	37	5	65459653	65459653	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:65459653C>T	ENST00000334121.6	+	6	948	c.789C>T	c.(787-789)ccC>ccT	p.P263P	SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000380918.3_Silent_p.P147P	NM_001077199.2|NM_001270492.1	NP_001070667.1|NP_001257421.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	147	Arg/Glu/Lys/Ser-rich.				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						TAGTAAAACCCCCTGAGATGA	0.353000													6	46					0	0	0.00116845	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797799	148797799	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:148797799C>T	ENST00000355220.5	+	5	755	c.653C>T	c.(652-654)tCc>tTc	p.S218F	MAGEA11_ENST00000333104.4_Missense_Mutation_p.S189F	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	218						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GAGTCCTTTTCCCAAGATATA	0.483000													28	36					0	0	0.00178596	0	0
AADAC	13	broad.mit.edu	37	3	151545367	151545367	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:151545367C>T	ENST00000232892.6	+	5	733	c.607C>T	c.(607-609)Ctt>Ttt	p.L203F	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	203					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTCTCAGCTCCTTGATGACCC	0.328000													5	51					0	0	0.000602214	0	0
NALCN	259232	broad.mit.edu	37	13	101726881	101726881	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:101726881C>T	ENST00000251127.6	-	36	4168	c.4087G>A	c.(4087-4089)Ggg>Agg	p.G1363R		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1363						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATATTCTCCCCATATTTCACA	0.323000													12	93					0	0	0.000978159	0	0
HIST1H2BA	255626	broad.mit.edu	37	6	25727286	25727286	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:25727286C>T	ENST00000274764.2	+	1	150	c.150C>T	c.(148-150)gtC>gtT	p.V50V		NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	50					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)	2						TAAAGCAGGTCCATCCGGACA	0.453000													5	52					0	0	0.000602214	0	0
HCAR2	338442	broad.mit.edu	37	12	123186913	123186913	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:123186913G>A	ENST00000328880.5	-	1	977	c.918C>T	c.(916-918)tcC>tcT	p.S306S	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	306					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	TGATCAAAGTGGAGAAGAAGT	0.532000													13	49					0	0	0.00244969	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37433955	37433955	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:37433955G>A	ENST00000374660.1	+	8	1357	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E420K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E420K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	476						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CAAACAAGAGGAAGATGAAGA	0.264000													7	102					0	0	0.000442599	0	0
LY9	4063	broad.mit.edu	37	1	160793333	160793333	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:160793333G>A	ENST00000263285.5	+	8	1607	c.1577G>A	c.(1576-1578)aGg>aAg	p.R526K	LY9_ENST00000368040.1_Missense_Mutation_p.R164K|LY9_ENST00000368041.2_Missense_Mutation_p.R396K|LY9_ENST00000368035.1_Missense_Mutation_p.R164K|LY9_ENST00000341032.4_Intron	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	526					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGGCCTGCCAGGCAACAGCCT	0.572000													6	36					0	0	0.00198382	0	0
PCDH1	5097	broad.mit.edu	37	5	141243202	141243202	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:141243202G>A	ENST00000287008.3	-	3	2841	c.2694C>T	c.(2692-2694)gcC>gcT	p.A898A	PCDH1_ENST00000536585.1_Silent_p.A876A|PCDH1_ENST00000456271.1_Silent_p.A886A|PCDH1_ENST00000394536.3_Silent_p.A898A|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	898					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGGGCTTGGGGGCATACAGGT	0.587000													6	76					0	0	0.00198382	0	0
CIB2	10518	broad.mit.edu	37	15	78403552	78403552	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:78403552G>A	ENST00000258930.3	-	3	481	c.153C>T	c.(151-153)atC>atT	p.I51I	CIB2_ENST00000539011.1_Silent_p.I8I|CIB2_ENST00000557846.1_Intron|CIB2_ENST00000560618.1_Silent_p.I8I	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	51							calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						GCACGTGGACGATGGGGCTCT	0.597000													10	64					0	0	0.00185496	0	0
TTN	7273	broad.mit.edu	37	2	179398597	179398597	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:179398597C>T	ENST00000589042.1	-	358	102969	c.102745G>A	c.(102745-102747)Gac>Aac	p.D34249N	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D32608N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D25309N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D25184N|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D31681N|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D25376N|TTN-AS1_ENST00000591867.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32608							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCATTGTGTCTGTTCTGCGC	0.408000													7	42					0	0	0.000157383	0	0
HIVEP2	3097	broad.mit.edu	37	6	143093287	143093287	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:143093287G>A	ENST00000367603.2	-	5	3331	c.2589C>T	c.(2587-2589)ccC>ccT	p.P863P	HIVEP2_ENST00000367604.1_Silent_p.P863P|HIVEP2_ENST00000012134.2_Silent_p.P863P	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	863					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GAGATGGAGAGGGTTTCCCCC	0.572000													7	44					0	0	0.000157383	0	0
KCNK4	50801	broad.mit.edu	37	11	64065031	64065031	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:64065031C>T	ENST00000539216.1	+	4	927	c.567C>T	c.(565-567)ttC>ttT	p.F189F	RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000422670.2_Silent_p.F189F|KCNK4_ENST00000538767.1_Intron|KCNK4_ENST00000539651.1_Intron|KCNK4_ENST00000394525.2_Silent_p.F189F			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	189						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						CGCCCACGTTCGTGTTCTGCT	0.577000													10	61					0	0	0.000978159	0	0
MUC16	94025	broad.mit.edu	37	19	9065720	9065720	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9065720G>A	ENST00000397910.4	-	3	21929	c.21726C>T	c.(21724-21726)tcC>tcT	p.S7242S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7244	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						GGCTCAGGGAGGAAATTGACT	0.468000													16	90					0	0	0.00152264	0	0
HDAC9	9734	broad.mit.edu	37	7	18688140	18688140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:18688140C>T	ENST00000406451.3	+	11	1442	c.1292C>T	c.(1291-1293)tCa>tTa	p.S431L	HDAC9_ENST00000456174.2_Missense_Mutation_p.S403L|HDAC9_ENST00000524023.1_Missense_Mutation_p.S354L|HDAC9_ENST00000441542.2_Missense_Mutation_p.S434L|HDAC9_ENST00000432645.2_Missense_Mutation_p.S431L|HDAC9_ENST00000428307.2_Missense_Mutation_p.S387L|HDAC9_ENST00000405010.3_Missense_Mutation_p.S431L|HDAC9_ENST00000417496.2_Missense_Mutation_p.S429L|HDAC9_ENST00000401921.1_Missense_Mutation_p.S390L|HDAC9_ENST00000406072.1_Missense_Mutation_p.S418L	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	431					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GAGAGAATTTCACCTGGCATT	0.473000													5	31					0	0	0.000157383	0	0
ANKHD1	54882	broad.mit.edu	37	5	139908062	139908062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:139908062C>T	ENST00000297183.6	+	29	5655	c.5531C>T	c.(5530-5532)cCa>cTa	p.P1844L	ANKHD1_ENST00000360839.2_Missense_Mutation_p.P1844L|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1844L|ANKHD1_ENST00000544120.1_Missense_Mutation_p.P227L	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCTTTCCCAGTTTCTCTA	0.453000													10	99					0	0	0.00185496	0	0
SV2B	9899	broad.mit.edu	37	15	91835670	91835670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:91835670C>T	ENST00000394232.1	+	13	2410	c.1940C>T	c.(1939-1941)tCt>tTt	p.S647F	SV2B_ENST00000545111.2_Missense_Mutation_p.S496F|SV2B_ENST00000330276.4_Missense_Mutation_p.S647F	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	647					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ATCTTTGCTTCTTTTGTTGGG	0.488000													67	344					0	0	0.000781405	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140731171	140731171	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140731171C>T	ENST00000523390.1	+	1	1344	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTGTTTTCCATCAGGCCT	0.562000													6	43					0	0	0.00116845	0	0
THAP4	51078	broad.mit.edu	37	2	242572754	242572754	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:242572754C>T	ENST00000407315.1	-	2	1249	c.818G>A	c.(817-819)aGc>aAc	p.S273N		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	273							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GGGTCCCAGGCTGCTCCCACT	0.627000													6	77					0	0	0.00198382	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67220462	67220462	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:67220462C>T	ENST00000314586.6	-	8	1623	c.1383G>A	c.(1381-1383)agG>agA	p.R461R		NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	461					exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						CAGCAAACCTCCTCAAGAATG	0.552000													8	42					0	0	0.000673444	0	0
C19orf18	147685	broad.mit.edu	37	19	58485728	58485728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:58485728G>A	ENST00000314391.3	-	1	174	c.73C>T	c.(73-75)Ccg>Tcg	p.P25S		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	25						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		TCTGCATACGGCAAGCATAAA	0.398000													12	47					0	0	0.000978159	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49341375	49341375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:49341375G>A	ENST00000263265.6	-	19	2531	c.1976C>T	c.(1975-1977)aCc>aTc	p.T659I	PLEKHA4_ENST00000355496.5_Silent_p.H560H	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	659						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GTAAGGGGTGGTGTTCCTTGG	0.527000													9	39					0	0	0.000442599	0	0
LAMC2	3918	broad.mit.edu	37	1	183190077	183190077	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:183190077C>T	ENST00000264144.4	+	5	686	c.621C>T	c.(619-621)atC>atT	p.I207I	LAMC2_ENST00000493293.1_Silent_p.I207I	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	207					cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TCCATAAGATCACCTCTACCT	0.458000													6	66					0	0	0.000274275	0	0
PRSS57	400668	broad.mit.edu	37	19	694959	694959	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:694959C>T	ENST00000329267.7	-	2	120	c.91G>A	c.(91-93)Ggg>Agg	p.G31R		NM_214710.3	NP_999875.1	Q6UWY2	PRS57_HUMAN	protease, serine, 57	31					proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|lung(5)	6						ATCTGGGCCCCCCAGGAGCCT	0.687000													3	4					0	0	0.00024832	0	0
IGHV6-1	28385	broad.mit.edu	37	14	106405783	106405783	+	RNA	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:106405783G>A	ENST00000390593.2	-	0	242																											AAGGCCTCTCGATGGGGACTG	0.522000													5	58					0	0	0.00116845	0	0
RYR1	6261	broad.mit.edu	37	19	38987049	38987049	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:38987049G>A	ENST00000355481.4	+	41	6795	c.6663_splice	c.e41-1	p.E2222_splice	RYR1_ENST00000360985.3_Splice_Site_p.E2222_splice|RYR1_ENST00000359596.3_Splice_Site_p.E2222_splice	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2222	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCTGTCCCAGGAGATCCGCTT	0.652000													4	26					0	0	0.00116845	0	0
MYO1F	4542	broad.mit.edu	37	19	8609284	8609284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:8609284C>T	ENST00000338257.8	-	14	1688	c.1421G>A	c.(1420-1422)gGa>gAa	p.G474E		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	474	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CTGGTCTGCTCCCCCGCCCGT	0.672000													7	19					0	0	0.00198382	0	0
ZNF536	9745	broad.mit.edu	37	19	30936214	30936214	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:30936214T>A	ENST00000355537.3	+	2	1892	c.1745T>A	c.(1744-1746)tTg>tAg	p.L582*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCTGCTGATTTGGTTCACAGC	0.512000													6	70					0	0	0.00116845	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919549	142919549	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:142919549C>T	ENST00000408947.3	+	1	420	c.378C>T	c.(376-378)ttC>ttT	p.F126F		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	126					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					TTGCAAACTTCAATCATCCTT	0.418000													12	150					0	0	0.00136819	0	0
SLC22A11	55867	broad.mit.edu	37	11	64336179	64336179	+	Silent	SNP	A	A	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:64336179A>C	ENST00000301891.4	+	8	1685	c.1311A>C	c.(1309-1311)ggA>ggC	p.G437G	SLC22A11_ENST00000377585.3_Intron|SLC22A11_ENST00000377581.3_Silent_p.G437G	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	437					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CTGTGCTGGGAAAGGGATGTT	0.582000													13	85					0	0	0.000308642	0	0
ARGFX	503582	broad.mit.edu	37	3	121304888	121304888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:121304888G>A	ENST00000334384.3	+	4	399	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	130						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		AGGAACCGGCGATTCAAATTG	0.522000													10	40					0	0	0.000673444	0	0
RBP1	5947	broad.mit.edu	37	3	139237345	139237345	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:139237345C>T	ENST00000232219.2	-	3	568	c.458G>A	c.(457-459)gGa>gAa	p.G153E	RP11-319G6.1_ENST00000515247.1_RNA	NM_002899.3	NP_002890.2	P09455	RET1_HUMAN	retinol binding protein 1, cellular	91						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Vitamin A(DB00162)	GAGCTTGTCTCCGTCCCAGCT	0.607000													5	42					0	0	0.00116845	0	0
CLDN16	10686	broad.mit.edu	37	3	190120219	190120219	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:190120219G>A	ENST00000264734.2	+	2	666	c.418G>A	c.(418-420)Gag>Aag	p.E140K	CLDN16_ENST00000468220.1_3'UTR|CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	140					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		CATACTTGCGGAGCATCCCTG	0.478000													6	65					0	0	0.000274275	0	0
NUFIP2	57532	broad.mit.edu	37	17	27613951	27613951	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:27613951G>A	ENST00000225388.4	-	2	1119	c.1061C>T	c.(1060-1062)cCt>cTt	p.P354L	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	354						nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ACTTATTTTAGGAACTATTTT	0.408000													22	108					0	0	0.00229938	0	0
SH2D3C	10044	broad.mit.edu	37	9	130536638	130536638	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:130536638G>A	ENST00000314830.8	-	2	259	c.146C>T	c.(145-147)aCc>aTc	p.T49I		NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	49					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGCTTCAAAGGTGTCAGGCTC	0.577000													9	32					0	0	0.000274275	0	0
MARCH8	220972	broad.mit.edu	37	10	46028622	46028622	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:46028622G>A	ENST00000453424.2	-	2	299	c.38C>T	c.(37-39)tCc>tTc	p.S13F	MARCH8_ENST00000395769.2_Missense_Mutation_p.S13F|MARCH8_ENST00000395771.3_Missense_Mutation_p.S13F|MARCH8_ENST00000319836.3_Missense_Mutation_p.S13F			Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	13						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						GGCATCCTGGGATGGAATGGC	0.443000													7	44					0	0	0.000274275	0	0
GPRC5C	55890	broad.mit.edu	37	17	72443058	72443058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:72443058C>T	ENST00000392627.1	+	4	2478	c.1352C>T	c.(1351-1353)tCg>tTg	p.S451L	GPRC5C_ENST00000342648.5_Missense_Mutation_p.S91L|GPRC5C_ENST00000392629.2_Missense_Mutation_p.S418L|GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000481232.1_3'UTR	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	406						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						AGTGCCAACTCGACCCTGCGG	0.607000													6	47					0	0	0.00198382	0	0
ABCC6	368	broad.mit.edu	37	16	16256870	16256870	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:16256870G>A	ENST00000205557.7	-	24	3515	c.3486C>T	c.(3484-3486)ttC>ttT	p.F1162F		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1162	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CCAGTCGCGGGAAACTGATCC	0.547000													27	140					0	0	0.00178596	0	0
ST14	6768	broad.mit.edu	37	11	130069911	130069911	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:130069911G>A	ENST00000278742.5	+	16	2291	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	625	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GGATGAGGGCGAGTGGCCCTG	0.622000													6	49					0	0	0.000274275	0	0
FOXA3	3171	broad.mit.edu	37	19	46375569	46375569	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:46375569G>A	ENST00000302177.2	+	2	503	c.306G>A	c.(304-306)ggG>ggA	p.G102G		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	102					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TGGTGCACGGGAAGGAGATGC	0.687000													5	12					0	0	0.000602214	0	0
GRIK4	2900	broad.mit.edu	37	11	120852905	120852905	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:120852905G>A	ENST00000527524.2	+	20	2773	c.2486G>A	c.(2485-2487)tGg>tAg	p.W829*	GRIK4_ENST00000438375.2_Nonsense_Mutation_p.W829*			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	829					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GAGTTTTTATGGACTCTCAGA	0.423000													22	203					0	0	0.00188189	0	0
HTR2A	3356	broad.mit.edu	37	13	47470038	47470038	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:47470038C>T	ENST00000378688.4	-	1	135	c.4G>A	c.(4-6)Gat>Aat	p.D2N	HTR2A_ENST00000543956.1_Intron|HTR2A_ENST00000542664.1_Missense_Mutation_p.D2N			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	2					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CAAAGAATATCCATGTCTAAG	0.408000													7	49					0	0	0.000157383	0	0
NUP98	4928	broad.mit.edu	37	11	3797170	3797170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:3797170G>A	ENST00000324932.7	-	5	857	c.437C>T	c.(436-438)tCc>tTc	p.S146F	NUP98_ENST00000397007.4_Missense_Mutation_p.S146F|NUP98_ENST00000355260.3_Missense_Mutation_p.S146F|NUP98_ENST00000359171.4_Missense_Mutation_p.S146F|NUP98_ENST00000397004.4_Missense_Mutation_p.S146F	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	146	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CCCAAAGAGGGAGCCAGATGT	0.398000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								17	157					0	0	0.00121646	0	0
TMLHE	55217	broad.mit.edu	37	X	154774867	154774867	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:154774867G>T	ENST00000334398.3	-	2	216	c.71C>A	c.(70-72)cCg>cAg	p.P24Q	TMLHE_ENST00000369439.4_Missense_Mutation_p.P24Q|TMLHE-AS1_ENST00000452506.1_RNA	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	24					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	TGGAAGGGCCGGATATATGAC	0.473000													19	24					3.99206e-14	1.75281e-13	0.000958276	1	0
CILP2	148113	broad.mit.edu	37	19	19654536	19654536	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:19654536C>T	ENST00000586018.1	+	8	1302	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	CILP2_ENST00000291495.4_Silent_p.I394I			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	394						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						AGTACCTGATCAAGCTCCCTG	0.667000													24	131					0	0	0.00106085	0	0
SCG2	7857	broad.mit.edu	37	2	224463503	224463503	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:224463503G>A	ENST00000305409.2	-	2	730	c.498C>T	c.(496-498)ttC>ttT	p.F166F		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	166					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		ACATAGGAGGGAATTGCATGT	0.408000													23	93					0	0	0.00278032	0	0
ZNF417	147687	broad.mit.edu	37	19	58420681	58420681	+	Missense_Mutation	SNP	C	C	T	rs148360150		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:58420681C>T	ENST00000312026.5	-	3	1129	c.965G>A	c.(964-966)aGg>aAg	p.R322K	ZNF417_ENST00000595559.1_Missense_Mutation_p.R321K|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Missense_Mutation_p.R123K	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CTCATAAGGCCTTTCTCCAGT	0.468000													14	167					0	0	0.000308642	0	0
ZNF317	57693	broad.mit.edu	37	19	9271050	9271050	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9271050C>T	ENST00000247956.6	+	7	1034	c.729C>T	c.(727-729)atC>atT	p.I243I	ZNF317_ENST00000360385.3_Silent_p.I211I	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						ACAGGAGAATCCACACCGGGG	0.552000													7	49					0	0	0.000274275	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325208	150325208	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:150325208G>A	ENST00000328902.5	-	3	694	c.478C>T	c.(478-480)Ctg>Ttg	p.L160L	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	160							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGAACACCAGGATGGTGTGA	0.617000													14	68					0	0	0.000422831	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001209	13001209	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:13001209C>T	ENST00000376189.1	-	3	573	c.474G>A	c.(472-474)agG>agA	p.R158R	PRAMEF6_ENST00000415464.2_Silent_p.R158R|PRAMEF6_ENST00000376192.5_Intron	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	158										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CATCCAGAGTCCTGTTCTTGA	0.478000													14	185					0	0	0.00106085	0	0
ZNF341	84905	broad.mit.edu	37	20	32332926	32332926	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:32332926C>T	ENST00000375200.1	+	3	525	c.160C>T	c.(160-162)Ctc>Ttc	p.L54F	ZNF341_ENST00000342427.2_Missense_Mutation_p.L54F			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GGATGTATTTCTCTGCGGGAA	0.522000													8	78					0	0	0.000442599	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113520032	113520032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:113520032C>T	ENST00000284601.3	-	4	1183	c.1115G>A	c.(1114-1116)aGg>aAg	p.R372K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	372					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AGACAGAGACCTTTGGAACAA	0.388000													6	68					0	0	0.000157383	0	0
PCDH15	65217	broad.mit.edu	37	10	55569253	55569253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:55569253C>T	ENST00000395438.1	-	36	5001	c.4607G>A	c.(4606-4608)aGg>aAg	p.R1536K	PCDH15_ENST00000395446.1_Silent_p.E715E|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395442.1_Silent_p.E384E|PCDH15_ENST00000395445.1_Silent_p.E1519E|PCDH15_ENST00000409834.1_Missense_Mutation_p.R1147K|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Silent_p.E453E	NM_001142770.1	NP_001136242.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTCTTCCTCCTCACTAGGCT	0.383000										HNSCC(58;0.16)			7	119					0	0	0.000274275	0	0
OR11G2	390439	broad.mit.edu	37	14	20666238	20666238	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:20666238C>T	ENST00000357366.3	+	1	744	c.744C>T	c.(742-744)ctC>ctT	p.L248L		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TCTTTATGCTCTTTCTCTTCA	0.498000													18	173					0	0	0.00152264	0	0
SLC26A7	115111	broad.mit.edu	37	8	92346659	92346659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:92346659C>T	ENST00000276609.3	+	6	1018	c.779C>T	c.(778-780)cCt>cTt	p.P260L	SLC26A7_ENST00000523719.1_Missense_Mutation_p.P260L|SLC26A7_ENST00000309536.2_Missense_Mutation_p.P260L	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	260						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GTTGTTCTTCCTGTAGATTTA	0.363000													4	17					0	0	0.000602214	0	0
GAP43	2596	broad.mit.edu	37	3	115395152	115395152	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:115395152C>T	ENST00000393780.3	+	3	899	c.431C>T	c.(430-432)cCt>cTt	p.P144L	GAP43_ENST00000305124.6_Missense_Mutation_p.P108L	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	108					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GGAGAAACTCCTTCCGAGGAG	0.627000													7	28					0	0	0.00198382	0	0
TMC5	79838	broad.mit.edu	37	16	19460932	19460932	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:19460932G>A	ENST00000396229.2	+	5	1776	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N	TMC5_ENST00000381414.4_Missense_Mutation_p.D343N|TMC5_ENST00000542583.2_Missense_Mutation_p.D343N|TMC5_ENST00000541464.1_Missense_Mutation_p.D343N	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	343						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GTCTGAATGTGATTGGCACAA	0.488000													20	99					0	0	0.00152264	0	0
MKRN3	7681	broad.mit.edu	37	15	23812123	23812123	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:23812123G>A	ENST00000314520.3	+	1	1670	c.1194G>A	c.(1192-1194)aaG>aaA	p.K398K	MKRN3_ENST00000564592.1_Silent_p.K158K|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_3'UTR	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	398						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGAGCAACAAGGCCTGCAGGT	0.512000													13	92					0	0	0.000308642	0	0
F8	2157	broad.mit.edu	37	X	154158605	154158605	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:154158605C>T	ENST00000360256.4	-	14	3660	c.3460G>A	c.(3460-3462)Gaa>Aaa	p.E1154K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1154	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ACAGATTTTTCTGGTCCTAAG	0.428000													6	48					0	0	0.00198382	0	0
OMA1	115209	broad.mit.edu	37	1	59004759	59004759	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:59004759A>T	ENST00000371226.3	-	2	321	c.208T>A	c.(208-210)Ttt>Att	p.F70I	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.F70I|OMA1_ENST00000467063.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	70					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					GTACTATAAAAATGAAAGTTT	0.383000													25	91					0	0	0.000720815	0	0
ZNF646	9726	broad.mit.edu	37	16	31089712	31089712	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:31089712C>T	ENST00000394979.2	+	1	2490	c.2067C>T	c.(2065-2067)ctC>ctT	p.L689L	ZNF646_ENST00000300850.5_Silent_p.L689L			O15015	ZN646_HUMAN	zinc finger protein 646	689					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AAGCCAAACTCCTGGCAGCGG	0.647000													7	43					0	0	0.000274275	0	0
DOCK2	1794	broad.mit.edu	37	5	169143223	169143223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:169143223C>T	ENST00000256935.8	+	20	2028	c.1948C>T	c.(1948-1950)Cag>Tag	p.Q650*	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Nonsense_Mutation_p.Q142*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	650	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGTTTCTCCAGGATACTCT	0.418000													7	61					0	0	0.000274275	0	0
RGPD4	285190	broad.mit.edu	37	2	108477287	108477287	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:108477287G>A	ENST00000408999.3	+	13	1901	c.1824G>A	c.(1822-1824)aaG>aaA	p.K608K	RGPD4_ENST00000354986.4_Silent_p.K608K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	608					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATTATTGGAAGAAAGTTTTGC	0.318000													10	152					0	0	0.000566183	0	0
SAMD3	154075	broad.mit.edu	37	6	130476046	130476046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:130476046C>T	ENST00000368134.2	-	11	1555	c.947G>A	c.(946-948)aGa>aAa	p.R316K	SAMD3_ENST00000439090.2_Missense_Mutation_p.R316K|SAMD3_ENST00000457563.2_Missense_Mutation_p.R340K|SAMD3_ENST00000437477.2_Missense_Mutation_p.R316K	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	316										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CATCTTTCTTCTTATTTCCAA	0.363000													22	100					0	0	0.00278032	0	0
ALLC	55821	broad.mit.edu	37	2	3744985	3744985	+	Silent	SNP	T	T	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:3744985T>G	ENST00000252505.3	+	10	951	c.789T>G	c.(787-789)gtT>gtG	p.V263V	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	282							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		AATGGGCAGTTTTCCGATTGG	0.373000										HNSCC(21;0.051)			8	167					0	0	0.000274275	0	0
ARHGAP8	23779	broad.mit.edu	37	22	45258246	45258246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:45258246C>T	ENST00000517296.3	+	17	1703	c.1703C>T	c.(1702-1704)tCc>tTc	p.S568F	ARHGAP8_ENST00000389773.5_Missense_Mutation_p.S480F|ARHGAP8_ENST00000336963.4_3'UTR|ARHGAP8_ENST00000389774.2_Missense_Mutation_p.S389F|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.S489F|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.S358F|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.S568F					Rho GTPase activating protein 8											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		CAGGGGGTCTCCTCCCTGAGT	0.557000													7	51					0	0	0.000157383	0	0
PTPN12	5782	broad.mit.edu	37	7	77256323	77256323	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:77256323C>T	ENST00000248594.6	+	13	1599	c.1327C>T	c.(1327-1329)Ctc>Ttc	p.L443F	PTPN12_ENST00000415482.2_Missense_Mutation_p.L324F|PTPN12_ENST00000435495.2_Missense_Mutation_p.L313F	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	443						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GAAGGTCCCTCTCCAAGAGGG	0.333000													10	41					0	0	0.000673444	0	0
STK31	56164	broad.mit.edu	37	7	23826481	23826481	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:23826481G>A	ENST00000354639.3	+	20	2820	c.2356G>A	c.(2356-2358)Gtc>Atc	p.V786I	STK31_ENST00000428484.1_Missense_Mutation_p.V786I|STK31_ENST00000433467.2_Missense_Mutation_p.V809I|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.V809I	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	809	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTATCTGATGGTCCCATACTA	0.358000													17	102					0	0	0.00152264	0	0
DLG5	9231	broad.mit.edu	37	10	79576792	79576792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:79576792G>A	ENST00000372391.2	-	19	3852	c.3847C>T	c.(3847-3849)Ccg>Tcg	p.P1283S	DLG5_ENST00000372388.2_Missense_Mutation_p.P943S|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1283					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ACACTCCGCGGATATCTTGGT	0.507000													7	92					0	0	0.000157383	0	0
OR56A3	390083	broad.mit.edu	37	11	5969256	5969256	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:5969256G>A	ENST00000329564.6	+	1	687	c.680G>A	c.(679-681)cGa>cAa	p.R227Q		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCATTCTGCGAGCTGTGCTG	0.517000													17	125					0	0	0.00152264	0	0
STK31	56164	broad.mit.edu	37	7	23826541	23826541	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:23826541G>A	ENST00000354639.3	+	20	2880	c.2416G>A	c.(2416-2418)Gaa>Aaa	p.E806K	STK31_ENST00000428484.1_Missense_Mutation_p.E806K|STK31_ENST00000433467.2_Missense_Mutation_p.E829K|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.E829K	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	829	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTTAAATTCAGAAGTAAGTAA	0.348000													22	81					0	0	0.00229938	0	0
LRIT2	340745	broad.mit.edu	37	10	85984762	85984762	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:85984762C>T	ENST00000372113.4	-	2	224	c.219G>A	c.(217-219)ggG>ggA	p.G73G	LRIT2_ENST00000538192.1_Silent_p.G73G	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	73						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TGATGAAAGACCCTTGGGGCA	0.463000													12	73					0	0	0.00136819	0	0
TNF	7124	broad.mit.edu	37	6	31544543	31544543	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:31544543G>A	ENST00000449264.2	+	3	407		c.e3-1			NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor						activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)	CTCCTCTTCAGGATCATCTTC	0.478000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				36	125					0	0	0.00148497	0	0
GLIS3	169792	broad.mit.edu	37	9	4118625	4118625	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:4118625T>A	ENST00000324333.10	-	3	581	c.388A>T	c.(388-390)Agt>Tgt	p.S130C	GLIS3_ENST00000381971.3_Missense_Mutation_p.S285C	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	130	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TGCCGAGGACTAGGGTAAGGA	0.547000													13	94					0	0	0.000422831	0	0
IGSF9	57549	broad.mit.edu	37	1	159901284	159901284	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:159901284G>A	ENST00000368094.1	-	12	1669	c.1472C>T	c.(1471-1473)gCt>gTt	p.A491V	IGSF9_ENST00000361509.3_Missense_Mutation_p.A475V|IGSF9_ENST00000493195.1_Intron	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	491	Ig-like 5.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TCGGGCCACAGCATTGCTGGC	0.617000													10	34					0	0	0.000978159	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148112601	148112601	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:148112601G>A	ENST00000361727.3	+	24	4405	c.3889G>A	c.(3889-3891)Gaa>Aaa	p.E1297K	CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Missense_Mutation_p.E356K	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1297					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCATACCAACGAAGCAAAGGG	0.552000										HNSCC(39;0.1)			13	58					0	0	0.00185496	0	0
PDILT	204474	broad.mit.edu	37	16	20373857	20373857	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:20373857C>T	ENST00000302451.4	-	10	1533	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	429	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.E429K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CTGCCCAATTCCTCCAACAGT	0.458000													13	67					0	0	0.000308642	0	0
ABCB5	340273	broad.mit.edu	37	7	20725388	20725388	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:20725388C>T	ENST00000404938.2	+	16	2591	c.1939C>T	c.(1939-1941)Cct>Tct	p.P647S	ABCB5_ENST00000258738.6_Missense_Mutation_p.P202S	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	202	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAACTCACTTCCTCTGCACTC	0.388000													10	42					0	0	0.000673444	0	0
PCDHA8	56140	broad.mit.edu	37	5	140223219	140223219	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140223219C>T	ENST00000531613.1	+	1	2313	c.2313C>T	c.(2311-2313)gcC>gcT	p.A771A	PCDHA8_ENST00000378123.3_Silent_p.A771A|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTCATGGCCTTCAGCCCCT	0.532000													5	33					0	0	0.000602214	0	0
INSIG2	51141	broad.mit.edu	37	2	118864701	118864701	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:118864701G>T	ENST00000245787.4	+	5	778	c.572G>T	c.(571-573)tGg>tTg	p.W191L	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	191					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GTTCGTTCTTGGTTACCATGT	0.373000													6	69					0.00116845	0.00505107	0.00116845	1	0
HLA-DOA	3111	broad.mit.edu	37	6	32976027	32976027	+	Missense_Mutation	SNP	C	C	T	rs41541916		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:32976027C>T	ENST00000229829.5	-	2	169	c.94G>A	c.(94-96)Ggc>Agc	p.G32S	HLA-DOA_ENST00000450833.2_Missense_Mutation_p.G2S	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	32	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						CCGTAGGAGCCCATGTGGTCA	0.517000													4	44					0	0	0.00198382	0	0
HIVEP1	3096	broad.mit.edu	37	6	12124188	12124188	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:12124188C>T	ENST00000379388.2	+	4	4492	c.4160C>T	c.(4159-4161)tCa>tTa	p.S1387L		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1387					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGAAGCAAATCATTCGATTGT	0.498000													11	94					0	0	0.000978159	0	0
RPUSD2	27079	broad.mit.edu	37	15	40866156	40866156	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:40866156C>T	ENST00000315616.7	+	3	1372	c.1334C>T	c.(1333-1335)cCc>cTc	p.P445L	RPUSD2_ENST00000559271.1_Missense_Mutation_p.P384L	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	445					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		TCTACGGCCCCCTCCTCAGAG	0.587000													9	62					0	0	0.000978159	0	0
FAM107B	83641	broad.mit.edu	37	10	14816576	14816576	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:14816576G>A	ENST00000181796.2	-	1	320	c.87C>T	c.(85-87)gcC>gcT	p.A29A		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCCAAAACAGGCGAGCAGAG	0.532000													5	45					0	0	0.000602214	0	0
OR51M1	390059	broad.mit.edu	37	11	5410856	5410856	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:5410856C>T	ENST00000328611.3	+	1	250	c.228C>T	c.(226-228)tcC>tcT	p.S76S	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	76						integral to membrane	olfactory receptor activity	p.S76S(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCTACTATCCTTGCTGGCCC	0.468000													10	69					0	0	0.00136819	0	0
CYP4F11	57834	broad.mit.edu	37	19	16025635	16025635	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:16025635G>A	ENST00000326742.7	-	9	1187	c.1186C>T	c.(1186-1188)Ccg>Tcg	p.P396S	CYP4F11_ENST00000402119.3_Missense_Mutation_p.P396S|CYP4F11_ENST00000248041.7_Missense_Mutation_p.P396S			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	396					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GAGATGACCGGGACTGGGGGA	0.607000													7	56					0	0	0.000157383	0	0
SLC2A6	11182	broad.mit.edu	37	9	136337165	136337165	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:136337165C>T	ENST00000371899.4	-	10	1579	c.1502G>A	c.(1501-1503)gGg>gAg	p.G501E	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.G439E	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	501						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GGACCTTCTCCCCGTGCGGAA	0.637000													7	32					0	0	0.000274275	0	0
COL4A5	1287	broad.mit.edu	37	X	107865032	107865032	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:107865032G>A	ENST00000328300.6	+	32	2921		c.e32-1		COL4A5_ENST00000361603.2_Splice_Site	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5						axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ATTCTTCAAAGGTACCAAAGG	0.413000									Alport syndrome with Diffuse Leiomyomatosis				8	21					0	0	0.000274275	0	0
KCNMB3	27094	broad.mit.edu	37	3	178968730	178968730	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:178968730G>A	ENST00000392685.2	-	1	688	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	KCNMB3_ENST00000314235.5_Intron|KCNMB3_ENST00000497599.1_Intron|KCNMB3_ENST00000485523.1_Intron|KCNMB3_ENST00000349697.2_Intron	NM_171830.1	NP_741981.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	0					detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)			GTCCTTTGGGGAAAGGGAGAA	0.517000													6	47					0	0	0.00116845	0	0
SLC19A3	80704	broad.mit.edu	37	2	228552239	228552239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:228552239C>T	ENST00000258403.3	-	6	1436	c.1365G>A	c.(1363-1365)atG>atA	p.M455I	SLC19A3_ENST00000541617.1_Missense_Mutation_p.M451I|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	455					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	ACATGCTTCTCATTAGGAAAA	0.383000													6	77					0	0	0.000157383	0	0
DES	1674	broad.mit.edu	37	2	220285063	220285063	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:220285063G>A	ENST00000373960.3	+	3	816	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	244	Coil 1B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAAAGTGCATGAAGAGGTATA	0.567000													5	26					0	0	0.000157383	0	0
TMEM87B	84910	broad.mit.edu	37	2	112863616	112863616	+	Silent	SNP	C	C	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:112863616C>A	ENST00000283206.4	+	16	1857	c.1488C>A	c.(1486-1488)tcC>tcA	p.S496S		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	496						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						AATCAGTTTCCAATGGAACAG	0.313000													11	255					0.000958276	0.00415605	0.000958276	1	0
PCLO	27445	broad.mit.edu	37	7	82785102	82785102	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:82785102C>T	ENST00000423517.2	-	2	1192	c.855G>A	c.(853-855)caG>caA	p.Q285Q	PCLO_ENST00000333891.8_Silent_p.Q285Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	285	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTATGTCTGCCTGTTTAGTCT	0.507000													12	38					0	0	0.00136819	0	0
HUS1B	135458	broad.mit.edu	37	6	656326	656326	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:656326G>A	ENST00000380907.2	-	1	637	c.619C>T	c.(619-621)Ctt>Ttt	p.L207F	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	207										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GGGTTTCCAAGATTTTTAAAA	0.517000													12	134					0	0	0.00185496	0	0
GPR123	84435	broad.mit.edu	37	10	134912202	134912202	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:134912202G>A	ENST00000607359.1	+	13	2350	c.2350G>A	c.(2350-2352)Gcc>Acc	p.A784T	GPR123_ENST00000392607.3_Missense_Mutation_p.A64T			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	64						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CTTCCACGCGGCCCTGACCTT	0.647000													8	54					0	0	0.000157383	0	0
ABCA9	10350	broad.mit.edu	37	17	66981062	66981062	+	Missense_Mutation	SNP	G	G	A	rs142934607		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:66981062G>A	ENST00000340001.4	-	34	4554	c.4343C>T	c.(4342-4344)tCg>tTg	p.S1448L	ABCA9_ENST00000370732.2_Intron|ABCA9_ENST00000453985.2_Missense_Mutation_p.S1410L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1448	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CATCCCGGTCGACGGCTCATC	0.572000													7	45					0	0	0.000157383	0	0
MS4A1	931	broad.mit.edu	37	11	60235852	60235852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:60235852G>A	ENST00000534668.1	+	7	1094	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	MS4A1_ENST00000345732.4_Missense_Mutation_p.E269K|MS4A1_ENST00000528313.1_Missense_Mutation_p.E102K|MS4A1_ENST00000389939.2_Missense_Mutation_p.E269K|MS4A1_ENST00000532073.1_Missense_Mutation_p.E256K	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	269					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	TCCAATCCAAGAAGAGGAAGA	0.378000													7	29					0	0	0.000157383	0	0
LRGUK	136332	broad.mit.edu	37	7	133884016	133884016	+	Silent	SNP	C	C	T	rs61749958		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:133884016C>T	ENST00000285928.2	+	14	1659	c.1590C>T	c.(1588-1590)atC>atT	p.I530I		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	530	Guanylate kinase-like.						ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CTCGTTATATCCTGGTGGTGC	0.368000													26	115					0	0	0.00127121	0	0
NTN4	59277	broad.mit.edu	37	12	96104296	96104296	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:96104296C>T	ENST00000343702.4	-	5	1551	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E	NTN4_ENST00000553059.1_Missense_Mutation_p.G368E|NTN4_ENST00000344911.4_Missense_Mutation_p.G331E|NTN4_ENST00000538383.1_Missense_Mutation_p.G331E	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	368	Laminin EGF-like 2.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GCAATACTGTCCTTCTGTGTT	0.512000													5	46					0	0	0.000602214	0	0
GTPBP4	23560	broad.mit.edu	37	10	1043163	1043163	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:1043163C>T	ENST00000360803.4	+	5	558	c.476C>T	c.(475-477)tCc>tTc	p.S159F	GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000545048.1_Missense_Mutation_p.S112F|GTPBP4_ENST00000538293.1_Missense_Mutation_p.S43F	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	159					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		CAGCATTTATCCCGTTTGCCA	0.378000													23	234					0	0	0.001512	0	0
SPTA1	6708	broad.mit.edu	37	1	158651329	158651329	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:158651329C>T	ENST00000368148.3	-	4	699	c.519G>A	c.(517-519)tgG>tgA	p.W173*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.W173*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	173					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)					TGTCTCCAATCCACTCTAAGA	0.522000													6	96					0	0	0.00198382	0	0
COL27A1	85301	broad.mit.edu	37	9	116931580	116931580	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:116931580C>T	ENST00000356083.3	+	3	2136	c.1745C>T	c.(1744-1746)cCc>cTc	p.P582L		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	582	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CAGCCCCAGCCCAGTCAGCAG	0.667000													10	46					0	0	0.000978159	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53679563	53679563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:53679563G>A	ENST00000262135.4	-	17	2750	c.2657C>T	c.(2656-2658)tCg>tTg	p.S886L	RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.S886L|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.S886L|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.S886L	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	886					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ATGTGCCAACGAAATCAGAGG	0.328000													17	261					0	0	0.00278032	0	0
ADRBK2	157	broad.mit.edu	37	22	26091075	26091075	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:26091075G>A	ENST00000324198.5	+	13	1246	c.1052_splice	c.e13-1	p.G352_splice		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	352	Protein kinase.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TCTCCCTAGTGGCACCCATGG	0.537000													6	76					0	0	0.00198382	0	0
PSME2	5721	broad.mit.edu	37	14	24613646	24613646	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:24613646T>C	ENST00000216802.5	-	7	1031	c.392A>G	c.(391-393)aAg>aGg	p.K131R	PSME2_ENST00000560410.1_Missense_Mutation_p.K120R|PSME2_ENST00000471700.2_5'UTR	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	131					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome activator complex				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		ATCTTCAATCTTGGGGATCAG	0.423000													4	64					0	0	0.00198382	0	0
PLSCR2	57047	broad.mit.edu	37	3	146171797	146171797	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:146171797C>T	ENST00000497985.1	-	7	1133	c.694G>A	c.(694-696)Gat>Aat	p.D232N	PLSCR2_ENST00000336685.2_Missense_Mutation_p.D159N	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	159					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						ACCTCAAAATCAACACCCGCA	0.313000													7	75					0	0	0.000442599	0	0
C3orf55	152078	broad.mit.edu	37	3	157296096	157296096	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:157296096C>T	ENST00000312275.5	+	5	623	c.331C>T	c.(331-333)Cat>Tat	p.H111Y	C3orf55_ENST00000449199.2_Intron|C3orf55_ENST00000461040.1_Intron|C3orf55_ENST00000426338.2_Intron|C3orf55_ENST00000459838.1_3'UTR	NM_001099777.3	NP_001093247.1	A1A4F0	CC055_HUMAN	chromosome 3 open reading frame 55	0										breast(1)|lung(1)	2			Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037)			GAAGGAACTTCATTTCTGCTG	0.398000													7	40					0	0	0.000274275	0	0
CEACAM5	1048	broad.mit.edu	37	19	42224024	42224024	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:42224024C>T	ENST00000221992.6	+	7	1782	c.1668C>T	c.(1666-1668)ctC>ctT	p.L556L	CEACAM5_ENST00000398599.4_Silent_p.L555L|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.L556L	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	556	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		ACAGGACCCTCACTCTATTCA	0.527000													9	93					0	0	0.000673444	0	0
SHC3	53358	broad.mit.edu	37	9	91686138	91686138	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:91686138G>A	ENST00000375835.4	-	5	1065	c.759C>T	c.(757-759)atC>atT	p.I253I	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	253	PID.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						AGGCGAAGGAGATGGACCGCA	0.498000													6	34					0	0	0.000274275	0	0
TNR	7143	broad.mit.edu	37	1	175325582	175325582	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:175325582G>A	ENST00000367674.1	-	16	3699	c.2991C>T	c.(2989-2991)atC>atT	p.I997I	TNR_ENST00000263525.2_Silent_p.I997I	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	997	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CGTCAACAAGGATGGTCTCTC	0.453000													18	48					0	0	0.00188189	0	0
ESYT3	83850	broad.mit.edu	37	3	138191578	138191578	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:138191578G>A	ENST00000389567.4	+	18	2300	c.2114G>A	c.(2113-2115)aGa>aAa	p.R705K		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	705						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						AAGTCACCCAGACCCATGAAA	0.597000													51	259					0	0	0.000781405	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834509	101834509	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:101834509C>T	ENST00000506729.1	-	1	211	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.E14K|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.E14K|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.E14K|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.E14K			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	14						integral to membrane|plasma membrane	transporter activity	p.E14K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CTTGAGACTTCATCCTGGCTC	0.687000													10	93					0	0	0.00185496	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140724790	140724790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140724790C>T	ENST00000253812.6	+	1	1190	c.1190C>T	c.(1189-1191)tCa>tTa	p.S397L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAGAAAAATCAATAGATCAA	0.448000													9	77					0	0	0.000274275	0	0
GRWD1	83743	broad.mit.edu	37	19	48953670	48953670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:48953670C>T	ENST00000253237.5	+	4	802	c.569C>T	c.(568-570)cCc>cTc	p.P190L		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	190						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GTGGAGGAGCCCCAGGCCCTG	0.642000													9	54					0	0	0.000274275	0	0
STRBP	55342	broad.mit.edu	37	9	125909134	125909134	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:125909134C>T	ENST00000447404.2	-	12	1642	c.1338_splice	c.e12+1	p.K446_splice	STRBP_ENST00000360998.3_Splice_Site_p.K432_splice|STRBP_ENST00000348403.5_Splice_Site_p.K446_splice			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	446	DRBM 1.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						AATACTGTACCTTCACCGCTA	0.328000													10	29					0	0	0.000978159	0	0
MEIS2	4212	broad.mit.edu	37	15	37242539	37242539	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:37242539G>A	ENST00000338564.5	-	10	1409	c.963C>T	c.(961-963)ctC>ctT	p.L321L	MEIS2_ENST00000557796.2_Silent_p.L308L|MEIS2_ENST00000397624.3_Silent_p.L233L|MEIS2_ENST00000382766.2_Silent_p.L321L|MEIS2_ENST00000561208.1_Silent_p.L321L|MEIS2_ENST00000444725.1_Silent_p.L321L|MEIS2_ENST00000397620.2_Silent_p.L233L|MEIS2_ENST00000424352.2_Silent_p.L321L|MEIS2_ENST00000219869.9_Silent_p.L175L|MEIS2_ENST00000559561.1_Silent_p.L321L|MEIS2_ENST00000559085.1_Silent_p.L308L|MEIS2_ENST00000340545.5_Silent_p.L308L	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	321					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TGTTTACTTGGAGAATTGTAA	0.353000													7	86					0	0	0.000157383	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6107556	6107556	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:6107556C>T	ENST00000409021.3	-	3	717	c.268G>A	c.(268-270)Ggg>Agg	p.G90R	JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.G90R|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.G90R|JAKMIP1_ENST00000410077.2_Intron	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	90	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGGATGAGCCCCTCGCGCAGC	0.687000													4	30					0	0	0.000602214	0	0
DAGLA	747	broad.mit.edu	37	11	61511339	61511339	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:61511339C>T	ENST00000257215.5	+	20	2623	c.2507C>T	c.(2506-2508)tCg>tTg	p.S836L		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	836					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TCCCTGAGCTCGCGCACTGAG	0.672000													12	147					0	0	0.000566183	0	0
HERC3	8916	broad.mit.edu	37	4	89574126	89574126	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:89574126C>T	ENST00000402738.1	+	6	809	c.570C>T	c.(568-570)atC>atT	p.I190I	HERC3_ENST00000264345.3_Silent_p.I190I|HERC3_ENST00000407637.1_Silent_p.I190I	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	190					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TGGAGGGGATCCCACTGGCTC	0.612000													8	34					0	0	0.000274275	0	0
C9orf131	138724	broad.mit.edu	37	9	35045503	35045503	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:35045503G>A	ENST00000312292.5	+	2	2924	c.2877G>A	c.(2875-2877)ggG>ggA	p.G959G	C9orf131_ENST00000421362.2_Silent_p.G911G|C9orf131_ENST00000354479.5_Silent_p.G886G	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	959										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ATAGAAGAGGGACTGCAAGGT	0.537000													6	57					0	0	0.00198382	0	0
CD22	933	broad.mit.edu	37	19	35832303	35832303	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:35832303G>A	ENST00000085219.5	+	8	1631	c.1565G>A	c.(1564-1566)gGa>gAa	p.G522E	CD22_ENST00000419549.2_Missense_Mutation_p.G350E|CD22_ENST00000594250.1_Missense_Mutation_p.G345E|CD22_ENST00000341773.6_Missense_Mutation_p.G345E|CD22_ENST00000544992.2_Missense_Mutation_p.G522E|CD22_ENST00000536635.2_Missense_Mutation_p.G434E|CD22_ENST00000270311.6_Missense_Mutation_p.G402E	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	522	Ig-like C2-type 5.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	ATTCACTCTGGAAACTCGGTC	0.567000													11	42					0	0	0.00185496	0	0
PSG11	5680	broad.mit.edu	37	19	43529050	43529050	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:43529050G>A	ENST00000401740.1	-	2	326	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F	PSG11_ENST00000320078.7_Missense_Mutation_p.L75F|PSG11_ENST00000403486.1_Intron|PSG11_ENST00000306322.7_Intron			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	75	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TAATGGTAGAGGTCCCTGATT	0.443000													20	109					0	0	0.00229938	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138444533	138444533	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:138444533G>A	ENST00000310018.2	-	8	885	c.603C>T	c.(601-603)ttC>ttT	p.F201F	ATP6V0A4_ENST00000353492.4_Silent_p.F201F|ATP6V0A4_ENST00000393054.1_Silent_p.F201F	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	201					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCATCTCACTGAACTTCAAGT	0.547000													8	41					0	0	0.000157383	0	0
SLC22A25	387601	broad.mit.edu	37	11	62951205	62951205	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:62951205C>T	ENST00000403374.2	-	6	720	c.417G>A	c.(415-417)agG>agA	p.R139R	SLC22A10_ENST00000535888.1_Intron|SLC22A25_ENST00000306494.6_Silent_p.R305R|SLC22A10_ENST00000525620.1_Intron			Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	305					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TCATTCCATTCCTGTGTGCAG	0.463000													16	73					0	0	0.00074312	0	0
TTLL2	83887	broad.mit.edu	37	6	167754713	167754713	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:167754713G>A	ENST00000239587.5	+	3	1413	c.1325G>A	c.(1324-1326)aGt>aAt	p.S442N		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	442					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GCTGCAAAAAGTGACAGAGGT	0.433000													5	69					0	0	0.00116845	0	0
PLIN4	729359	broad.mit.edu	37	19	4511880	4511880	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:4511880C>T	ENST00000301286.3	-	3	2049	c.2050G>A	c.(2050-2052)Gac>Aac	p.D684N		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	684	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTGACTGTGTCCTTGGTGCCG	0.582000													12	159					0	0	0.000422831	0	0
OR51E1	143503	broad.mit.edu	37	11	4674360	4674360	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:4674360G>A	ENST00000396952.5	+	2	1254	c.604G>A	c.(604-606)Ggc>Agc	p.G202S	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTCGTCTATGGCCTTATCGT	0.498000													13	103					0	0	0.00244969	0	0
ZXDC	79364	broad.mit.edu	37	3	126191014	126191014	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:126191014G>A	ENST00000389709.3	-	2	1095	c.1042C>T	c.(1042-1044)Cac>Tac	p.H348Y	ZXDC_ENST00000336332.5_Missense_Mutation_p.H348Y	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	348					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CTCCGCAGGTGAATTTTCAGC	0.473000													10	65					0	0	0.000978159	0	0
MYO18B	84700	broad.mit.edu	37	22	26422449	26422449	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:26422449C>T	ENST00000335473.7	+	43	6759	c.6509C>T	c.(6508-6510)tCg>tTg	p.S2170L	MYO18B_ENST00000407587.2_Missense_Mutation_p.S2171L|MYO18B_ENST00000536101.1_Missense_Mutation_p.S2170L	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2170						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGACCCAGTCGGCATTGGCA	0.507000													28	157					0	0	0.00127121	0	0
LPA	4018	broad.mit.edu	37	6	161010727	161010727	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:161010727G>A	ENST00000447678.1	-	25	3925	c.3805C>T	c.(3805-3807)Ccc>Tcc	p.P1269S	LPA_ENST00000316300.5_Missense_Mutation_p.P1269S	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3777	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGACTGTGGGGCTTTGCTCC	0.448000													8	32					0	0	0.000978159	0	0
TNIP2	79155	broad.mit.edu	37	4	2746545	2746545	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:2746545G>A	ENST00000510267.1	-	4	891	c.464C>T	c.(463-465)tCc>tTc	p.S155F	TNIP2_ENST00000315423.7_Missense_Mutation_p.S262F|TNIP2_ENST00000503235.1_Intron|TNIP2_ENST00000505186.1_5'UTR	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN	TNFAIP3 interacting protein 2	262						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GTTGAGCCGGGAGATCTCCTT	0.622000													7	67					0	0	0.000274275	0	0
BDNF	627	broad.mit.edu	37	11	27679529	27679529	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:27679529C>T	ENST00000525528.1	-	1	1676	c.583G>A	c.(583-585)Ggc>Agc	p.G195S	BDNF-AS_ENST00000532965.1_RNA|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000532997.1_Missense_Mutation_p.G195S|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000530861.1_Missense_Mutation_p.G195S|BDNF_ENST00000395978.3_Missense_Mutation_p.G195S|BDNF_ENST00000395986.2_Missense_Mutation_p.G210S|BDNF_ENST00000439476.2_Missense_Mutation_p.G195S|BDNF_ENST00000418212.1_Missense_Mutation_p.G195S|BDNF_ENST00000533131.1_Missense_Mutation_p.G195S|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000525950.1_Missense_Mutation_p.G195S|BDNF_ENST00000356660.4_Missense_Mutation_p.G195S|BDNF_ENST00000314915.6_Missense_Mutation_p.G203S|BDNF_ENST00000533246.1_Missense_Mutation_p.G195S|BDNF-AS_ENST00000530313.1_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000438929.1_Missense_Mutation_p.G277S|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000395983.3_Missense_Mutation_p.G195S|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000395981.3_Missense_Mutation_p.G195S|BDNF_ENST00000395980.2_Missense_Mutation_p.G195S|BDNF_ENST00000420794.1_Missense_Mutation_p.G195S	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	195						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						CCCCTGCAGCCTTCTTTTGTG	0.507000													12	128					0	0	0.00136819	0	0
PRAM1	84106	broad.mit.edu	37	19	8562714	8562714	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:8562714C>T	ENST00000423345.4	-	4	2030	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K	PRAM1_ENST00000255612.3_Missense_Mutation_p.E503K			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	552	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						TCGTAGATCTCATCTGGGACC	0.507000													7	58					0	0	0.000274275	0	0
AADACL3	126767	broad.mit.edu	37	1	12785399	12785399	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:12785399G>A	ENST00000332530.3	+	3	505	c.279G>A	c.(277-279)ctG>ctA	p.L93L	AADACL3_ENST00000359318.5_Silent_p.L163L	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	163							hydrolase activity	p.L163L(1)|p.L93L(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTCAGATCCTGATCTATGCCA	0.512000													43	103					0	0	0.00285205	0	0
COL6A3	1293	broad.mit.edu	37	2	238296685	238296685	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:238296685G>A	ENST00000295550.4	-	4	1304	c.852C>T	c.(850-852)gtC>gtT	p.V284V	COL6A3_ENST00000392004.3_Silent_p.V78V|COL6A3_ENST00000353578.4_Silent_p.V78V|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000409809.1_Silent_p.V78V|COL6A3_ENST00000346358.4_Silent_p.V284V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	284	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGCTAAACTGGACCACCCCCA	0.532000													5	62					0	0	0.000602214	0	0
FAM135B	51059	broad.mit.edu	37	8	139164725	139164725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:139164725C>T	ENST00000395297.1	-	13	2163	c.1993G>A	c.(1993-1995)Gag>Aag	p.E665K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	665										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCCTCCTGCTCTTCTGTGTGA	0.507000										HNSCC(54;0.14)			20	72					0	0	0.00047179	0	0
OR2A7	401427	broad.mit.edu	37	7	143956632	143956632	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:143956632G>A	ENST00000493325.1	-	1	183	c.90C>T	c.(88-90)ttC>ttT	p.F30F	RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-798C17.6_ENST00000489488.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					AGAACAGGGAGAAGAGCCCAA	0.537000													6	79					0	0	0.000442599	0	0
NKD2	85409	broad.mit.edu	37	5	1032303	1032303	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:1032303C>T	ENST00000296849.5	+	4	407	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	NKD2_ENST00000537972.1_Missense_Mutation_p.R60W|NKD2_ENST00000274150.4_Missense_Mutation_p.R60W	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	60	Targeting to the basolateral cell membrane.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GGGGCCTTTCCGGGAGGACCA	0.642000													9	48					0	0	0.000978159	0	0
CD19	930	broad.mit.edu	37	16	28943738	28943738	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:28943738C>T	ENST00000538922.1	+	2	222	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	CD19_ENST00000324662.3_Missense_Mutation_p.R54W|CD19_ENST00000567541.1_Missense_Mutation_p.R54W	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	54	Ig-like C2-type 1.				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GACCTGGTCTCGGGAGTCCCC	0.592000													6	20					0	0	0.000157383	0	0
NLRP10	338322	broad.mit.edu	37	11	7984790	7984790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:7984790C>T	ENST00000328600.2	-	1	414	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	85	DAPIN.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCCACAAGTTCCAACAGGTTC	0.537000													12	53					0	0	0.00185496	0	0
PYROXD1	79912	broad.mit.edu	37	12	21608113	21608113	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:21608113C>T	ENST00000538582.1	+	6	1076	c.323C>T	c.(322-324)gCt>gTt	p.A108V	PYROXD1_ENST00000240651.9_Missense_Mutation_p.A179V|PYROXD1_ENST00000545178.1_3'UTR			Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	179							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						AAAGATAAAGCTATAGGGAAT	0.338000													5	80					0	0	0.000157383	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736083	140736083	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140736083C>T	ENST00000571252.1	+	1	1316	c.1316C>T	c.(1315-1317)tCa>tTa	p.S439L	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCATATTTCACTGCAAGTG	0.463000													9	52					0	0	0.000442599	0	0
GPR98	84059	broad.mit.edu	37	5	90136683	90136683	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:90136683C>T	ENST00000405460.2	+	78	16996	c.16900C>T	c.(16900-16902)Cag>Tag	p.Q5634*	GPR98_ENST00000425867.2_Nonsense_Mutation_p.Q1295*	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5634					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTTGCAGATCAGCTACATCA	0.468000													8	33					0	0	0.000274275	0	0
WNK4	65266	broad.mit.edu	37	17	40933268	40933268	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:40933268C>T	ENST00000246914.5	+	1	573	c.552C>T	c.(550-552)tcC>tcT	p.S184S		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	184	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GACGTGGCTCCTTCAAGACGG	0.622000													14	51					0	0	0.00185496	0	0
AMPD3	272	broad.mit.edu	37	11	10514899	10514899	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:10514899G>A	ENST00000444303.2	+	6	938	c.466G>A	c.(466-468)Gac>Aac	p.D156N	AMPD3_ENST00000396554.3_Missense_Mutation_p.D324N	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	315					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GTTCCAGGTGGACACACACAT	0.572000													15	109					0	0	0.00121646	0	0
CD163	9332	broad.mit.edu	37	12	7647788	7647788	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:7647788G>A	ENST00000359156.4	-	6	1511	c.1309C>T	c.(1309-1311)Ctg>Ttg	p.L437L	CD163_ENST00000396620.3_Silent_p.L437L|CD163_ENST00000432237.2_Silent_p.L437L|CD163_ENST00000541972.1_Silent_p.L425L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	437	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						CTTAGAAACAGCCATGTGTTT	0.438000													12	71					0	0	0.00136819	0	0
ABL2	27	broad.mit.edu	37	1	179084114	179084114	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:179084114G>A	ENST00000502732.1	-	9	1663	c.1460C>T	c.(1459-1461)cCa>cTa	p.P487L	ABL2_ENST00000408940.3_Missense_Mutation_p.P451L|ABL2_ENST00000344730.3_Missense_Mutation_p.P472L|ABL2_ENST00000512653.1_Missense_Mutation_p.P472L|ABL2_ENST00000507173.1_Missense_Mutation_p.P466L|ABL2_ENST00000367623.4_Missense_Mutation_p.P466L|ABL2_ENST00000511413.1_Missense_Mutation_p.P487L|ABL2_ENST00000504405.1_Missense_Mutation_p.P451L|ABL2_ENST00000392043.3_Missense_Mutation_p.P466L	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	487	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.P451L(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GTCAATACCTGGATATGGTGA	0.408000			T	ETV6	AML								21	73					0	0	0.00278032	0	0
TLR2	7097	broad.mit.edu	37	4	154626229	154626229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:154626229C>T	ENST00000260010.6	+	1	3578	c.2170C>T	c.(2170-2172)Ctt>Ttt	p.L724F		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	724	TIR.				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				CCATTTCCGTCTTTTTGATGA	0.433000													15	112					0	0	0.000308642	0	0
C9orf131	138724	broad.mit.edu	37	9	35043984	35043984	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:35043984G>A	ENST00000312292.5	+	2	1405	c.1358G>A	c.(1357-1359)tGg>tAg	p.W453*	C9orf131_ENST00000421362.2_Nonsense_Mutation_p.W405*|C9orf131_ENST00000354479.5_Nonsense_Mutation_p.W380*	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	453										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GAGACACCATGGAAGGGCATG	0.537000													12	44					0	0	0.00185496	0	0
DPYD	1806	broad.mit.edu	37	1	97771799	97771799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:97771799G>A	ENST00000370192.3	-	17	2213	c.2113C>T	c.(2113-2115)Cct>Tct	p.P705S	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	705					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GCAAAAAAAGGAATCTGAACA	0.433000													10	41					0	0	0.000673444	0	0
SNTG2	54221	broad.mit.edu	37	2	1263174	1263174	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:1263174G>A	ENST00000308624.5	+	13	1167	c.1038G>A	c.(1036-1038)agG>agA	p.R346R	SNTG2_ENST00000407292.1_Silent_p.R219R	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	346	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GAGCAGAAAGGACCTATCACC	0.398000													5	95					0	0	0.00116845	0	0
THSD1	55901	broad.mit.edu	37	13	52952485	52952485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:52952485C>T	ENST00000349258.4	-	4	2005	c.1461G>A	c.(1459-1461)atG>atA	p.M487I	THSD1_ENST00000258613.4_Missense_Mutation_p.M540I|THSD1_ENST00000544466.1_Missense_Mutation_p.M161I	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	540						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CTTTCTTTTTCATCTCCTTTA	0.532000													15	136					0	0	0.00074312	0	0
DAP3	7818	broad.mit.edu	37	1	155695218	155695218	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:155695218C>T	ENST00000368336.5	+	5	440	c.316C>T	c.(316-318)Cta>Tta	p.L106L	DAP3_ENST00000343043.3_Silent_p.L106L|DAP3_ENST00000471214.1_3'UTR|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000421487.2_Silent_p.L72L|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000535183.1_Silent_p.L65L	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	106					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GAAACCAGCCCTAGAACTTCT	0.473000													9	118					0	0	0.000978159	0	0
OTOA	146183	broad.mit.edu	37	16	21747658	21747658	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:21747658T>G	ENST00000388958.3	+	21	2379	c.2378T>G	c.(2377-2379)tTt>tGt	p.F793C	OTOA_ENST00000388956.4_Missense_Mutation_p.F714C|OTOA_ENST00000286149.4_Missense_Mutation_p.F807C|OTOA_ENST00000388957.3_Missense_Mutation_p.F469C	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	807					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TGGGCTGTCTTTCAGTCTGTT	0.468000													10	92					0	0	0.000978159	0	0
TM4SF4	7104	broad.mit.edu	37	3	149205542	149205542	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:149205542G>A	ENST00000305354.4	+	3	1305	c.401_splice	c.e3+1	p.G134_splice		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	134						integral to membrane				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TTCCACGACGGGTAAGGCCAC	0.517000													8	40					0	0	0.000274275	0	0
MS4A3	932	broad.mit.edu	37	11	59831769	59831769	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:59831769G>A	ENST00000278865.3	+	4	402	c.329G>A	c.(328-330)gGg>gAg	p.G110E	MS4A3_ENST00000358152.2_Missense_Mutation_p.G64E|MS4A3_ENST00000534744.1_Missense_Mutation_p.G64E|MS4A3_ENST00000395032.2_5'UTR	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	110						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				GTTGTAGCAGGGATAAAACCC	0.368000													13	64					0	0	0.000958276	0	0
DGKA	1606	broad.mit.edu	37	12	56346858	56346858	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:56346858G>A	ENST00000331886.5	+	22	2431	c.1977G>A	c.(1975-1977)ctG>ctA	p.L659L	DGKA_ENST00000551156.1_Silent_p.L659L|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Silent_p.L659L	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	659					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TGGTTGGGCTGGAGGGTGCAA	0.502000													15	62					0	0	0.000422831	0	0
LIX1	167410	broad.mit.edu	37	5	96440918	96440918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:96440918C>T	ENST00000274382.4	-	4	754	c.459G>A	c.(457-459)atG>atA	p.M153I	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	153										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		TAGTCTTCCCCATGTTTGACT	0.443000													7	59					0	0	0.00198382	0	0
HEPHL1	341208	broad.mit.edu	37	11	93754684	93754684	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:93754684G>A	ENST00000315765.9	+	1	158	c.150G>A	c.(148-150)ggG>ggA	p.G50G		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	50	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTATTACTGGGAAAAGTTTCA	0.453000													12	108					0	0	0.000308642	0	0
PRR16	51334	broad.mit.edu	37	5	120022361	120022361	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:120022361C>T	ENST00000379551.2	+	3	1160	c.803C>T	c.(802-804)cCa>cTa	p.P268L	PRR16_ENST00000446965.1_Missense_Mutation_p.P221L|PRR16_ENST00000505123.1_Missense_Mutation_p.P221L|PRR16_ENST00000407149.2_Missense_Mutation_p.P291L	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	291	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GCACCAAAACCACAGAAGACG	0.408000													9	45					0	0	0.000673444	0	0
UMOD	7369	broad.mit.edu	37	16	20357650	20357650	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:20357650G>A	ENST00000396134.2	-	6	1202	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F	UMOD_ENST00000302509.4_Missense_Mutation_p.S327F|UMOD_ENST00000396142.2_Missense_Mutation_p.S327F|UMOD_ENST00000570689.1_Missense_Mutation_p.S327F|UMOD_ENST00000424589.1_Missense_Mutation_p.S360F|UMOD_ENST00000396138.4_Missense_Mutation_p.S376F	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	327	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CTCCAGGAGGGAGATATCTGA	0.582000													10	51					0	0	0.00244969	0	0
MYO18B	84700	broad.mit.edu	37	22	26298654	26298654	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:26298654A>C	ENST00000335473.7	+	30	5148	c.4898A>C	c.(4897-4899)gAg>gCg	p.E1633A	MYO18B_ENST00000407587.2_Missense_Mutation_p.E1634A|MYO18B_ENST00000536101.1_Missense_Mutation_p.E1633A|MYO18B_ENST00000536204.1_3'UTR	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1633	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GTGACCCAGGAGAACACCAGT	0.572000													3	14					0	0	6.4e-05	0	0
OSM	5008	broad.mit.edu	37	22	30661125	30661125	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:30661125G>A	ENST00000215781.2	-	2	83	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F	OSM_ENST00000403463.1_Intron|OSM_ENST00000403389.1_5'UTR	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	15					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			AGGAGTGCAAGGACCAGACCT	0.582000													12	89					0	0	0.00185496	0	0
PTBP2	58155	broad.mit.edu	37	1	97235385	97235385	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:97235385C>A	ENST00000236228.6	+	4	324	c.242C>A	c.(241-243)cCt>cAt	p.P81H	PTBP2_ENST00000426398.2_Missense_Mutation_p.P81H|PTBP2_ENST00000370198.1_Missense_Mutation_p.P81H|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000541987.1_Missense_Mutation_p.P50H|PTBP2_ENST00000370197.1_Missense_Mutation_p.P81H|PTBP2_ENST00000394184.3_Missense_Mutation_p.P92H	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	81	RRM 1.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TTAGGCTTACCTTTTGGTAAG	0.388000													7	96					0.00198382	0.00856191	0.00198382	1	0
BAGE2	85319	broad.mit.edu	37	21	11049461	11049461	+	RNA	SNP	G	G	T	rs28483076	by1000genomes	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:11049461G>T	ENST00000470054.1	-	0	647									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGCAGTTCTGGCACACTTTGC	0.413000													9	101					1.08611e-07	4.75116e-07	0.000978159	1	0
MS4A6A	64231	broad.mit.edu	37	11	59943007	59943007	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:59943007C>T	ENST00000528851.1	-	5	557	c.417G>A	c.(415-417)caG>caA	p.Q139Q	MS4A6A_ENST00000323961.3_Silent_p.Q139Q|MS4A6A_ENST00000420732.2_Silent_p.Q139Q|MS4A6A_ENST00000412309.2_Silent_p.Q167Q|MS4A6A_ENST00000529054.1_Silent_p.Q167Q|MS4A6A_ENST00000533023.1_Silent_p.Q75Q|MS4A6A_ENST00000530839.1_Silent_p.Q139Q|MS4A6A_ENST00000426738.2_Silent_p.Q94Q			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	139						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTAAGGTGGCCTGTTTGACAG	0.418000													5	35					0	0	0.000602214	0	0
OR52N2	390077	broad.mit.edu	37	11	5841866	5841866	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:5841866G>A	ENST00000317037.2	+	1	323	c.301G>A	c.(301-303)Gcc>Acc	p.A101T	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGCCTGCCTGGCCCAGATGTT	0.517000													8	68					0	0	0.000442599	0	0
EVPL	2125	broad.mit.edu	37	17	74003516	74003516	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:74003516C>T	ENST00000301607.3	-	22	6023	c.5770G>A	c.(5770-5772)Ggc>Agc	p.G1924S	EVPL_ENST00000586740.1_Missense_Mutation_p.G1946S	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1924	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGCATCCAGCCCTTCTGGACG	0.667000													6	27					0	0	0.00116845	0	0
GABRA2	2555	broad.mit.edu	37	4	46305601	46305601	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:46305601G>A	ENST00000510861.1	-	8	905	c.732C>T	c.(730-732)ttC>ttT	p.F244F	GABRA2_ENST00000514090.1_Silent_p.F244F|GABRA2_ENST00000507069.1_Silent_p.F244F|GABRA2_ENST00000515082.1_Silent_p.F244F|GABRA2_ENST00000540012.1_Silent_p.F189F|GABRA2_ENST00000381620.4_Silent_p.F244F|GABRA2_ENST00000356504.1_Silent_p.F244F			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	244					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTTCAGGTGGAAATGAGCTG	0.353000													17	71					0	0	0.000566183	0	0
THSD7B	80731	broad.mit.edu	37	2	138000129	138000129	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:138000129G>A	ENST00000409968.1	+	10	2431	c.2253G>A	c.(2251-2253)agG>agA	p.R751R	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.R751R|THSD7B_ENST00000413152.2_Silent_p.R720R					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTGCCCAAGGATGTGCCAAG	0.478000													6	25					0	0	0.00198382	0	0
CNTN1	1272	broad.mit.edu	37	12	41386974	41386974	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:41386974C>T	ENST00000551295.2	+	17	2133	c.2016C>T	c.(2014-2016)atC>atT	p.I672I	CNTN1_ENST00000347616.1_Silent_p.I672I|CNTN1_ENST00000348761.2_Silent_p.I661I	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	672	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGGACTTAATCCCATGGATGG	0.403000													14	70					0	0	0.000308642	0	0
ZNF383	163087	broad.mit.edu	37	19	37733712	37733712	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:37733712C>T	ENST00000589413.1	+	8	1157	c.574C>T	c.(574-576)Cat>Tat	p.H192Y	ZNF383_ENST00000590503.1_Missense_Mutation_p.H192Y|ZNF383_ENST00000352998.3_Missense_Mutation_p.H192Y			Q8NA42	ZN383_HUMAN	zinc finger protein 383	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAGAGAATTCATATTGGTGA	0.338000													15	36					0	0	0.000422831	0	0
ITGA5	3678	broad.mit.edu	37	12	54797454	54797454	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:54797454C>T	ENST00000293379.4	-	17	1992	c.1731G>A	c.(1729-1731)caG>caA	p.Q577Q	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	577					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GAGCCCCATTCTGGATGAGCA	0.617000													16	47					0	0	0.00121646	0	0
ATP7B	540	broad.mit.edu	37	13	52515256	52515256	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:52515256C>T	ENST00000242839.4	-	16	3673	c.3517G>A	c.(3517-3519)Gag>Aag	p.E1173K	ATP7B_ENST00000400370.3_Missense_Mutation_p.E743K|ATP7B_ENST00000417240.2_Missense_Mutation_p.E384K|ATP7B_ENST00000448424.2_Missense_Mutation_p.E1095K|ATP7B_ENST00000418097.2_Missense_Mutation_p.E1108K|ATP7B_ENST00000400366.3_Missense_Mutation_p.E1062K|ATP7B_ENST00000344297.5_Missense_Mutation_p.E966K|ATP7B_ENST00000482841.1_5'UTR	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1173			E -> G (in WD).|E -> K (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CCTTTCATCTCGTGGTCTGTC	0.502000									Wilson disease				8	75					0	0	0.000157383	0	0
ABCA2	20	broad.mit.edu	37	9	139905120	139905120	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:139905120G>A	ENST00000265662.5	-	40	6273	c.6126C>T	c.(6124-6126)ctC>ctT	p.L2042L	ABCA2_ENST00000371605.3_Silent_p.L2041L|ABCA2_ENST00000341511.6_Silent_p.L2042L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2041					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGTCTCCCCGGAGCACTCGCT	0.637000													15	71					0	0	0.00152264	0	0
NOS3	4846	broad.mit.edu	37	7	150695451	150695451	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:150695451G>A	ENST00000461406.1	+	0	316				NOS3_ENST00000297494.3_Missense_Mutation_p.D197N|NOS3_ENST00000484524.1_Missense_Mutation_p.D197N|NOS3_ENST00000467517.1_Missense_Mutation_p.D197N			P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)						anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TCAGGTGTTCGATGCCCGGGA	0.617000													6	27					0	0	0.000442599	0	0
KIF2B	84643	broad.mit.edu	37	17	51901483	51901483	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:51901483G>A	ENST00000268919.4	+	1	1245	c.1089G>A	c.(1087-1089)aaG>aaA	p.K363K		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	363	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATGGGGGCAAGGTGTATGATT	0.473000													15	72					0	0	0.000566183	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128958002	128958002	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:128958002C>T	ENST00000274487.4	+	10	1858	c.1713C>T	c.(1711-1713)atC>atT	p.I571I	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	571	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AATGCCAGATCCTTTTTGGGC	0.448000													5	31					0	0	0.00116845	0	0
SUSD4	55061	broad.mit.edu	37	1	223442007	223442007	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:223442007G>A	ENST00000343846.3	-	3	1005	c.372C>T	c.(370-372)atC>atT	p.I124I	SUSD4_ENST00000366878.4_Silent_p.I124I|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Silent_p.I124I|SUSD4_ENST00000478605.1_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	124	Sushi 2.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		CGATTTGAGGGATACGGCAAT	0.388000													13	82					0	0	0.000566183	0	0
MCM7	4176	broad.mit.edu	37	7	99693651	99693651	+	Silent	SNP	G	G	A	rs150968866		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:99693651G>A	ENST00000303887.5	-	11	1986	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	MCM7_ENST00000354230.3_Silent_p.F271F|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	447	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CCATCTTGTCGAACTCATCAA	0.592000													7	35					0	0	0.000442599	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625498	140625498	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140625498C>T	ENST00000231173.3	+	1	352	c.352C>T	c.(352-354)Cga>Tga	p.R118*		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		118	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAAGTATTTCGAGCTGAACT	0.433000													12	69					0	0	0.00244969	0	0
YTHDC1	91746	broad.mit.edu	37	4	69184272	69184272	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:69184272G>A	ENST00000344157.4	-	15	2124	c.1789C>T	c.(1789-1791)Cat>Tat	p.H597Y	YTHDC1_ENST00000355665.3_Missense_Mutation_p.H579Y|YTHDC1_ENST00000579690.1_Missense_Mutation_p.H605Y	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	597										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CCCATGTTATGAAATTCCCTC	0.303000													9	65					0	0	0.000673444	0	0
YY1AP1	55249	broad.mit.edu	37	1	155640148	155640148	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:155640148G>A	ENST00000368340.5	-	7	1213	c.1105C>T	c.(1105-1107)Ccc>Tcc	p.P369S	YY1AP1_ENST00000355499.4_Missense_Mutation_p.P231S|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000361831.5_Missense_Mutation_p.P220S|YY1AP1_ENST00000368339.5_Missense_Mutation_p.P369S|YY1AP1_ENST00000311573.5_Missense_Mutation_p.P220S|YY1AP1_ENST00000407221.1_Missense_Mutation_p.P220S|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000405763.3_Missense_Mutation_p.P369S|YY1AP1_ENST00000359205.5_Missense_Mutation_p.P220S|YY1AP1_ENST00000368330.2_Missense_Mutation_p.P231S|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000438245.2_Intron|YY1AP1_ENST00000404643.1_Missense_Mutation_p.P231S|YY1AP1_ENST00000295566.4_Missense_Mutation_p.P297S|YY1AP1_ENST00000535662.1_Missense_Mutation_p.P97S|YY1AP1_ENST00000347088.5_Missense_Mutation_p.P231S	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TTATCCTGGGGATTCTTTGCC	0.458000													27	68					0	0	0.00178596	0	0
KLHL31	401265	broad.mit.edu	37	6	53519959	53519959	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:53519959C>T	ENST00000370905.3	-	2	252	c.112G>A	c.(112-114)Gag>Aag	p.E38K	KLHL31_ENST00000407079.1_Missense_Mutation_p.E38K	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TTGCCTCCCTCTAGGAGCCCA	0.413000													8	45					0	0	0.000157383	0	0
ZNRF3	84133	broad.mit.edu	37	22	29444428	29444428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:29444428C>T	ENST00000544604.2	+	7	1139	c.964C>T	c.(964-966)Ccc>Tcc	p.P322S	ZNRF3_ENST00000332811.4_Missense_Mutation_p.P222S|ZNRF3_ENST00000406323.3_Missense_Mutation_p.P222S|ZNRF3_ENST00000402174.1_Missense_Mutation_p.P222S	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	322						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GTGCGTGGACCCCTGGCTGCT	0.597000													6	48					0	0	0.000274275	0	0
RIT2	6014	broad.mit.edu	37	18	40695397	40695397	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:40695397C>T	ENST00000589109.1	-	1	259	c.88G>A	c.(88-90)Gga>Aga	p.G30R	RIT2_ENST00000326695.5_Missense_Mutation_p.G30R|RIT2_ENST00000590910.1_Missense_Mutation_p.G30R|RIT2_ENST00000282028.4_Missense_Mutation_p.G30R	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	30					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTACCAACTCCCCCTGCTCCC	0.507000													6	54					0	0	0.000442599	0	0
SEMA5B	54437	broad.mit.edu	37	3	122642467	122642467	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:122642467G>A	ENST00000195173.4	-	10	1572	c.1269C>T	c.(1267-1269)ttC>ttT	p.F423F	SEMA5B_ENST00000357599.3_Silent_p.F423F|SEMA5B_ENST00000451055.2_Silent_p.F477F			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	423	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TCTGTACCTGGAAATTGGGGA	0.542000													8	50					0	0	0.000274275	0	0
LRRCC1	85444	broad.mit.edu	37	8	86027487	86027487	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:86027487C>T	ENST00000414626.2	+	4	1526	c.637C>T	c.(637-639)Ccc>Tcc	p.P213S	LRRCC1_ENST00000360375.3_Missense_Mutation_p.P233S			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	233	LRRCT.				cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TTCTGATTCTCCCCTAAATAT	0.279000													6	76					0	0	0.00116845	0	0
FLG2	388698	broad.mit.edu	37	1	152325478	152325478	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:152325478C>T	ENST00000388718.5	-	3	4856	c.4784G>A	c.(4783-4785)cGa>cAa	p.R1595Q	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1595							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGTGTTCTCGTGAGTGTGG	0.512000													16	129					0	0	0.000566183	0	0
PLCL1	5334	broad.mit.edu	37	2	198949938	198949938	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:198949938G>A	ENST00000428675.1	+	2	2095	c.1697G>A	c.(1696-1698)cGa>cAa	p.R566Q	PLCL1_ENST00000437704.2_Missense_Mutation_p.R468Q	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	566	Interaction with GABA A beta subunit (By similarity).				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAAATGTCTCGAAGGATGTCG	0.393000													8	43					0	0	0.000157383	0	0
NSD1	64324	broad.mit.edu	37	5	176638325	176638325	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:176638325C>T	ENST00000439151.2	+	5	2970	c.2925C>T	c.(2923-2925)tcC>tcT	p.S975S	NSD1_ENST00000361032.4_Silent_p.S872S|NSD1_ENST00000354179.4_Silent_p.S706S|NSD1_ENST00000347982.4_Silent_p.S706S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	975					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CTCAGAACTCCGCCAATCCTA	0.512000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			6	37					0	0	0.00116845	0	0
HELQ	113510	broad.mit.edu	37	4	84370062	84370062	+	Silent	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:84370062T>C	ENST00000295488.3	-	3	1227	c.1065A>G	c.(1063-1065)ttA>ttG	p.L355L	HELQ_ENST00000510985.1_Silent_p.L355L	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	355	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGGAATATATTAAATTTTTTC	0.343000								Other identified genes with known or suspected DNA repair function					9	33					0	0	0.000442599	0	0
BSN	8927	broad.mit.edu	37	3	49680225	49680225	+	Silent	SNP	C	C	T	rs71324983	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:49680225C>T	ENST00000296452.4	+	3	1272	c.1158C>T	c.(1156-1158)atC>atT	p.I386I		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	386					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CACCTAAGATCGTCTTCAATG	0.642000													6	38					0	0	0.00198382	0	0
SLC10A4	201780	broad.mit.edu	37	4	48490715	48490715	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:48490715G>A	ENST00000273861.4	+	3	1292	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	358						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						CAATTCATAGGAAGCATGTAC	0.428000													22	106					0	0	0.00047179	0	0
RIMS2	9699	broad.mit.edu	37	8	104928669	104928669	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:104928669G>A	ENST00000507740.1	+	6	1600	c.1364G>A	c.(1363-1365)aGa>aAa	p.R455K	RIMS2_ENST00000436393.2_Missense_Mutation_p.R425K|RIMS2_ENST00000262231.10_Missense_Mutation_p.R502K|RIMS2_ENST00000406091.3_Missense_Mutation_p.R647K	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	725					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGGAATGGAAGACTACTGCAA	0.358000										HNSCC(12;0.0054)			17	36					0	0	0.00121646	0	0
PDGFC	56034	broad.mit.edu	37	4	157771494	157771494	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:157771494G>A	ENST00000502773.1	-	2	683	c.193C>T	c.(193-195)Cat>Tat	p.H65Y	PDGFC_ENST00000422544.2_Missense_Mutation_p.H65Y|PDGFC_ENST00000541126.1_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	65	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		GGATAAGTATGAGGAAACCTT	0.373000													6	45					0	0	0.00198382	0	0
KRT77	374454	broad.mit.edu	37	12	53096994	53096994	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:53096994C>T	ENST00000341809.3	-	1	253	c.225G>A	c.(223-225)atG>atA	p.M75I	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	75	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TGCTCCTCCCCATTAGATTAA	0.587000													4	15					0	0	0.00024832	0	0
SERPINE1	5054	broad.mit.edu	37	7	100775191	100775191	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:100775191G>A	ENST00000223095.4	+	4	698	c.541G>A	c.(541-543)Gac>Aac	p.D181N	SERPINE1_ENST00000445463.2_Missense_Mutation_p.D166N	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	181					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	AGGAGCCGTGGACCAGCTGAC	0.517000													10	137					0	0	0.000673444	0	0
FAT3	120114	broad.mit.edu	37	11	92543052	92543052	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:92543052C>T	ENST00000298047.6	+	12	9308	c.9291C>T	c.(9289-9291)ccC>ccT	p.P3097P	FAT3_ENST00000525166.1_Silent_p.P2947P|FAT3_ENST00000409404.2_Silent_p.P3097P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3097	Cadherin 28.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGAGGATCCCCGTGTACAGCC	0.502000										TCGA Ovarian(4;0.039)			18	117					0	0	0.00121646	0	0
SLC28A1	9154	broad.mit.edu	37	15	85478709	85478709	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:85478709G>A	ENST00000394573.1	+	15	1743	c.1541G>A	c.(1540-1542)gGg>gAg	p.G514E	SLC28A1_ENST00000537216.1_Missense_Mutation_p.G514E|SLC28A1_ENST00000537624.1_Missense_Mutation_p.G514E|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000286749.3_Missense_Mutation_p.G514E	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	514					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CGCCTGGCAGGGGCCGAGGAG	0.612000													13	70					0	0	0.00074312	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113588364	113588364	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:113588364C>T	ENST00000358160.4	+	3	677	c.185C>T	c.(184-186)tCc>tTc	p.S62F	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	62						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						ATTTCAAGTTCCACCTATAAA	0.303000													16	199					0	0	0.000566183	0	0
FRRS1	391059	broad.mit.edu	37	1	100203756	100203756	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:100203756C>A	ENST00000414213.1	-	7	1246	c.645G>T	c.(643-645)aaG>aaT	p.K215N	FRRS1_ENST00000287474.5_Missense_Mutation_p.K215N			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	215					electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		AGGAAGCCTCCTTCTCTGGGT	0.428000													11	69					7.03913e-09	3.08179e-08	0.00136819	1	0
BEND2	139105	broad.mit.edu	37	X	18221836	18221836	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:18221836C>T	ENST00000380033.4	-	5	824	c.692G>A	c.(691-693)gGt>gAt	p.G231D	BEND2_ENST00000380030.3_Missense_Mutation_p.G231D	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	231										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CCATGGCATACCGAAACAAGG	0.453000													6	55					0	0	0.00116845	0	0
RNF17	56163	broad.mit.edu	37	13	25451149	25451149	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:25451149C>T	ENST00000255324.5	+	34	4650	c.4598C>T	c.(4597-4599)cCt>cTt	p.P1533L	RNF17_ENST00000381921.1_Missense_Mutation_p.P1491L|RNF17_ENST00000339524.3_Missense_Mutation_p.P543L	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1533	Tudor 4.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TGCCAAATTCCTTCTCATCTT	0.408000													7	118					0	0	0.000274275	0	0
CNN1	1264	broad.mit.edu	37	19	11657667	11657667	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:11657667C>T	ENST00000592923.1	+	5	700	c.123C>T	c.(121-123)ttC>ttT	p.F41F	CNN1_ENST00000535659.2_Silent_p.F41F|CNN1_ENST00000252456.2_Silent_p.F91F|CNN1_ENST00000544952.1_Silent_p.F71F			P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	91	CH.				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						TCGGCAACTTCATCAAGGCCA	0.572000													10	32					0	0	0.000673444	0	0
HCRTR2	3062	broad.mit.edu	37	6	55147135	55147135	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:55147135C>T	ENST00000370862.3	+	7	1554	c.1218C>T	c.(1216-1218)tcC>tcT	p.S406S		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	406					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCCGGAAGTCCTTGACCACTC	0.493000													5	19					0	0	0.000602214	0	0
CHRM3	1131	broad.mit.edu	37	1	240071426	240071426	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:240071426C>T	ENST00000255380.4	+	5	1454	c.675C>T	c.(673-675)ttC>ttT	p.F225F		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	225					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TCATTCAGTTCCTCAGTGAGC	0.458000													6	100					0	0	0.00116845	0	0
SKIV2L	6499	broad.mit.edu	37	6	31930542	31930542	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:31930542C>T	ENST00000375394.2	+	12	1376	c.1263C>T	c.(1261-1263)atC>atT	p.I421I	SKIV2L_ENST00000544581.1_Silent_p.I228I	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	421	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						AGTGGGTCATCTTTGATGAGG	0.562000													65	180					0	0	0.000781405	0	0
SPDYC	387778	broad.mit.edu	37	11	64938905	64938905	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:64938905G>A	ENST00000377185.2	+	2	216	c.134G>A	c.(133-135)gGt>gAt	p.G45D		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	45					cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						AGCCGGCAAGGTGGGGGCAAT	0.627000													5	13					0	0	0.00116845	0	0
NEB	4703	broad.mit.edu	37	2	152548668	152548668	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:152548668C>T	ENST00000397345.3	-	22	2213	c.2011G>A	c.(2011-2013)Gac>Aac	p.D671N	NEB_ENST00000172853.10_Missense_Mutation_p.D671N|NEB_ENST00000604864.1_Missense_Mutation_p.D671N|NEB_ENST00000409198.1_Missense_Mutation_p.D671N|NEB_ENST00000603639.1_Missense_Mutation_p.D671N|NEB_ENST00000427231.2_Missense_Mutation_p.D671N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	671					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACATATAAGTCTTTATATCTA	0.383000													15	152					0	0	0.000308642	0	0
TAS2R50	259296	broad.mit.edu	37	12	11138916	11138916	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:11138916G>A	ENST00000506868.1	-	1	595	c.544C>T	c.(544-546)Cta>Tta	p.L182L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	182					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						AAGCTCCATAGGGTAGTTACA	0.403000													7	71					0	0	0.00198382	0	0
SHROOM3	57619	broad.mit.edu	37	4	77670212	77670212	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:77670212G>A	ENST00000296043.6	+	6	4749	c.3796G>A	c.(3796-3798)Gat>Aat	p.D1266N		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1266					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCTTGTGAAGGATCCATGTTA	0.418000													33	163					0	0	0.00058488	0	0
CNTN6	27255	broad.mit.edu	37	3	1262427	1262427	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:1262427C>T	ENST00000446702.2	+	3	739	c.112C>T	c.(112-114)Cct>Tct	p.P38S	CNTN6_ENST00000350110.2_Missense_Mutation_p.P38S|CNTN6_ENST00000539053.1_5'UTR			Q9UQ52	CNTN6_HUMAN	contactin 6	38	Ig-like C2-type 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGTCATTTTTCCTTTGGATTT	0.398000													10	87					0	0	0.000978159	0	0
RORB	6096	broad.mit.edu	37	9	77277467	77277467	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:77277467G>A	ENST00000376896.2	+	6	1449	c.837G>A	c.(835-837)cgG>cgA	p.R279R	RORB_ENST00000396204.2_Silent_p.R290R	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	290	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TTGCAAAGCGGATAACAGGCT	0.458000													12	48					0	0	0.00136819	0	0
SLC4A5	57835	broad.mit.edu	37	2	74492235	74492235	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:74492235G>A	ENST00000394019.2	-	9	955	c.558C>T	c.(556-558)atC>atT	p.I186I	SLC4A5_ENST00000346834.4_Silent_p.I186I|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Silent_p.I186I|SLC4A5_ENST00000377632.1_Silent_p.I186I|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Silent_p.I186I|SLC4A5_ENST00000359484.4_Silent_p.I122I|SLC4A5_ENST00000358683.4_Silent_p.I122I|SLC4A5_ENST00000357822.5_Silent_p.I186I	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	186						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CCTCACCTATGATCTGTGGTA	0.607000													9	42					0	0	0.000442599	0	0
CARS	833	broad.mit.edu	37	11	3028115	3028115	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:3028115G>A	ENST00000397114.3	-	19	2240	c.1864C>T	c.(1864-1866)Cac>Tac	p.H622Y	CARS_ENST00000397111.5_Missense_Mutation_p.H632Y|CARS_ENST00000278224.9_Missense_Mutation_p.H632Y|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000380525.4_Missense_Mutation_p.H715Y|CARS_ENST00000401769.3_Missense_Mutation_p.H645Y			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	632					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CCACCTTCGTGGTCTTCAAAC	0.587000			T	ALK	ALCL								20	107					0	0	0.00178596	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147045	52147045	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:52147045G>A	ENST00000360844.6	-	5	1040	c.999C>T	c.(997-999)atC>atT	p.I333I	SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	333					cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GCACAGAAAGGATGAAGGACA	0.587000													5	39					0	0	0.00116845	0	0
PROKR2	128674	broad.mit.edu	37	20	5283145	5283145	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:5283145G>A	ENST00000546004.1	-	3	942	c.696C>T	c.(694-696)ttC>ttT	p.F232F	PROKR2_ENST00000217270.3_Silent_p.F232F			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	232						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CAGGGCCCACGAACTCGACAC	0.557000										HNSCC(71;0.22)			10	60					0	0	0.000978159	0	0
PTN	5764	broad.mit.edu	37	7	136938300	136938300	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:136938300C>A	ENST00000348225.2	-	3	627	c.200G>T	c.(199-201)cGg>cTg	p.R67L	PTN_ENST00000393083.2_Missense_Mutation_p.R67L	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	67					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	p.R67Q(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						AGTGCCCTCCCGTGTGCCCAG	0.522000													6	57					0.00116845	0.00505107	0.00116845	1	0
IGF1	3479	broad.mit.edu	37	12	102811655	102811655	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:102811655C>T	ENST00000307046.8	-	4	710	c.529G>A	c.(529-531)Gag>Aag	p.E177K	IGF1_ENST00000424202.2_Intron|IGF1_ENST00000456098.1_Intron|IGF1_ENST00000337514.6_Intron|IGF1_ENST00000392904.1_Intron	NM_001111285.1	NP_001104755.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	177					anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						CTCCTCTGCTCTTTCTTCTTT	0.473000													59	293					0	0	0.000781405	0	0
UTP15	84135	broad.mit.edu	37	5	72874889	72874889	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:72874889G>A	ENST00000296792.4	+	11	1449	c.1194G>A	c.(1192-1194)aaG>aaA	p.K398K	UTP15_ENST00000508491.1_Silent_p.K379K|UTP15_ENST00000543251.1_Silent_p.K208K	NM_032175.2	NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	398					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		CCATCATAAAGGAGTTAAATC	0.373000													8	54					0	0	0.000274275	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761868	130761868	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:130761868G>A	ENST00000392429.1	+	2	2679	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	TMEM200A_ENST00000545622.1_Missense_Mutation_p.E101K|TMEM200A_ENST00000296978.3_Missense_Mutation_p.E101K	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	101						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GTCAACAAATGAAACTCAGGT	0.433000													21	87					0	0	0.00278032	0	0
ARAP2	116984	broad.mit.edu	37	4	36069702	36069702	+	Missense_Mutation	SNP	G	G	A	rs147139030		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:36069702G>A	ENST00000303965.4	-	33	5431	c.4942C>T	c.(4942-4944)Cca>Tca	p.P1648S		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1648					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TGGCCTTTTGGTTGCCCAAGT	0.478000													7	86					0	0	0.000274275	0	0
TMC3	342125	broad.mit.edu	37	15	81627299	81627299	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:81627299C>T	ENST00000558726.1	-	21	2359	c.2224G>A	c.(2224-2226)Gaa>Aaa	p.E742K	TMC3_ENST00000359440.5_Missense_Mutation_p.E741K|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	741						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GTGCTTTCTTCCTGGGTCTGG	0.537000													5	25					0	0	0.00198382	0	0
TRIM6	117854	broad.mit.edu	37	11	5632083	5632083	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:5632083G>A	ENST00000380097.3	+	8	1304	c.1062G>A	c.(1060-1062)gtG>gtA	p.V354V	TRIM6_ENST00000506134.1_Silent_p.V151V|TRIM6_ENST00000278302.5_Silent_p.V326V|TRIM6_ENST00000481603.1_3'UTR|TRIM6_ENST00000380107.1_Silent_p.V300V|TRIM6_ENST00000445329.1_Silent_p.V151V|TRIM6_ENST00000515022.1_Silent_p.V151V|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Intron|TRIM6_ENST00000507320.1_Silent_p.V151V|AC015691.13_ENST00000394793.2_RNA	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1			tripartite motif containing 6											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGAGGTTTGTGGGAGCTAAAG	0.468000													12	47					0	0	0.00136819	0	0
PSG7	5676	broad.mit.edu	37	19	43430007	43430007	+	RNA	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:43430007C>T	ENST00000406070.2	-	0	1257				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GCCCGCTATGCTTTGTAGTAA	0.483000													11	145					0	0	0.000978159	0	0
GABRB3	2562	broad.mit.edu	37	15	27184505	27184505	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:27184505C>T	ENST00000541819.2	-	1	181	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	GABRA5_ENST00000355395.5_Intron|GABRA5_ENST00000400081.3_Intron|GABRA5_ENST00000335625.5_Intron			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	0					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCCCCGATTTCAAAGAACAGG	0.572000													12	33					0	0	0.00136819	0	0
FRMPD1	22844	broad.mit.edu	37	9	37708410	37708410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:37708410G>A	ENST00000539465.1	+	4	867	c.274G>A	c.(274-276)Ggc>Agc	p.G92S	FRMPD1_ENST00000377765.3_Missense_Mutation_p.G92S|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	92	PDZ.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTCTGCTCACGGCAAGCTTTT	0.488000													15	68					0	0	0.00121646	0	0
TUBAL3	79861	broad.mit.edu	37	10	5436411	5436411	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:5436411C>T	ENST00000380419.3	-	4	447	c.410G>A	c.(409-411)gGt>gAt	p.G137D	TUBAL3_ENST00000479328.1_Missense_Mutation_p.G97D	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	137					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CTGAAGTCCACCACACTGTTC	0.443000													9	49					0	0	0.000673444	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059062	152059062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:152059062C>T	ENST00000368806.1	-	3	1160	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	366							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTTTCACATTCTTTTTCTTGG	0.448000													41	138					0	0	0.00285205	0	0
TLL2	7093	broad.mit.edu	37	10	98136459	98136459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:98136459C>T	ENST00000357947.3	-	18	2663	c.2438G>A	c.(2437-2439)aGa>aAa	p.R813K		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	813	CUB 4.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GAGTTTCACTCTGTGGCCTGC	0.532000													6	56					0	0	0.00198382	0	0
C2orf71	388939	broad.mit.edu	37	2	29296693	29296693	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:29296693C>T	ENST00000331664.5	-	1	434	c.435G>A	c.(433-435)tgG>tgA	p.W145*		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	145					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTGTCCTTTTCCATTTGGAAG	0.498000													11	84					0	0	0.000673444	0	0
ZNF812	729648	broad.mit.edu	37	19	9801922	9801922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9801922C>T	ENST00000457674.2	-	5	775	c.257G>A	c.(256-258)gGa>gAa	p.G86E	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	86	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTCAGAGTTTCCATCCACTGT	0.378000													5	49					0	0	0.00116845	0	0
PNLDC1	154197	broad.mit.edu	37	6	160237607	160237607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:160237607G>A	ENST00000275275.5	+	14	1231	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	PNLDC1_ENST00000392167.3_Missense_Mutation_p.D365N	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	354						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AGCCGCGTATGATGCCTTCCT	0.473000													16	65					0	0	0.00152264	0	0
CCR7	1236	broad.mit.edu	37	17	38711757	38711757	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:38711757C>T	ENST00000246657.2	-	3	436	c.374G>A	c.(373-375)gGt>gAt	p.G125D	CCR7_ENST00000579344.1_Missense_Mutation_p.G119D	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	125					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				AAAGTGGACACCGAAGACCCA	0.547000													12	30					0	0	0.000978159	0	0
WDR17	116966	broad.mit.edu	37	4	177100682	177100682	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:177100682G>A	ENST00000393643.2	+	30	4101	c.3849G>A	c.(3847-3849)gtG>gtA	p.V1283V	WDR17_ENST00000507824.2_Silent_p.V1282V|WDR17_ENST00000280190.4_Silent_p.V1307V|WDR17_ENST00000508596.1_Silent_p.V1268V	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1307										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GGGCAAAGGTGAATCCATTCT	0.398000													9	99					0	0	0.000442599	0	0
MEGF10	84466	broad.mit.edu	37	5	126667076	126667076	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:126667076C>T	ENST00000274473.6	+	3	343	c.76C>T	c.(76-78)Ctg>Ttg	p.L26L	MEGF10_ENST00000503335.2_Silent_p.L26L|MEGF10_ENST00000418761.2_Silent_p.L26L|MEGF10_ENST00000508365.1_Silent_p.L26L	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	26	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AGCATCACCTCTGAATCTTGA	0.388000													7	93					0	0	0.000442599	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138111	126138111	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:126138111G>A	ENST00000299308.3	+	9	2100	c.2091_splice	c.e9-1	p.E698_splice	TMEM132B_ENST00000535886.1_Splice_Site_p.E210_splice	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	698						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTTTCCTCAGGAAGCAATAGT	0.313000													16	97					0	0	0.000422831	0	0
SCN11A	11280	broad.mit.edu	37	3	38961476	38961476	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:38961476C>T	ENST00000450244.1	-	7	1107	c.909G>A	c.(907-909)aaG>aaA	p.K303K	SCN11A_ENST00000444237.2_Silent_p.K303K|SCN11A_ENST00000456224.3_Silent_p.K303K|SCN11A_ENST00000302328.3_Silent_p.K303K			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	303					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AATTTTCTTTCTTTTCAAAGC	0.338000													5	74					0	0	0.000602214	0	0
MARCH6	10299	broad.mit.edu	37	5	10405768	10405768	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:10405768C>T	ENST00000274140.5	+	16	1563	c.1431C>T	c.(1429-1431)ctC>ctT	p.L477L	MARCH6_ENST00000449913.2_Silent_p.L429L|MARCH6_ENST00000510792.1_Silent_p.L175L|MARCH6_ENST00000503788.1_Silent_p.L372L	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	477					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						ATAGGCATCTCCGAAGATTTA	0.338000													6	86					0	0	0.000274275	0	0
SLC4A3	6508	broad.mit.edu	37	2	220500098	220500098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:220500098G>A	ENST00000358055.3	+	13	2364	c.1852G>A	c.(1852-1854)Ggc>Agc	p.G618S	SLC4A3_ENST00000373762.3_Missense_Mutation_p.G645S|SLC4A3_ENST00000317151.3_Missense_Mutation_p.G618S|SLC4A3_ENST00000373760.2_Missense_Mutation_p.G618S|SLC4A3_ENST00000273063.6_Missense_Mutation_p.G645S			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	618					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGAGGTGGAGGGCCGTGACCT	0.617000													7	38					0	0	0.000274275	0	0
HDC	3067	broad.mit.edu	37	15	50534864	50534864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:50534864G>A	ENST00000267845.3	-	12	1984	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C	HDC_ENST00000543581.1_Missense_Mutation_p.R495C	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	528					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GCTCCCACACGCTGAGGCTGC	0.582000													6	22					0	0	0.000157383	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54913436	54913436	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:54913436C>T	ENST00000474759.1	+	20	1890	c.1842C>T	c.(1840-1842)ttC>ttT	p.F614F	CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000490478.1_Silent_p.F520F|CACNA2D3_ENST00000288197.5_Silent_p.F614F|CACNA2D3_ENST00000415676.2_Silent_p.F614F	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	614						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GTACTCCTTTCAGGTAGAGCT	0.378000													8	30					0	0	0.000442599	0	0
CPQ	10404	broad.mit.edu	37	8	98041631	98041631	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:98041631G>A	ENST00000220763.5	+	6	1172	c.961_splice	c.e6-1	p.G321_splice		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	321					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										ATTTTCCCAGGGCTGCGTCCA	0.423000													5	19					0	0	0.00198382	0	0
SPTLC3	55304	broad.mit.edu	37	20	13107318	13107318	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:13107318C>T	ENST00000399002.2	+	9	1507	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	411					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	CAGAGCAAATCATCAGATCAC	0.483000													22	117					0	0	0.00229938	0	0
SGSM1	129049	broad.mit.edu	37	22	25315900	25315900	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:25315900T>A	ENST00000400358.4	+	24	3190	c.3133T>A	c.(3133-3135)Tac>Aac	p.Y1045N	SGSM1_ENST00000400359.4_Missense_Mutation_p.Y1100N	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	1100	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GGTGGAAGTCTACCGTGACAT	0.507000													6	14					0	0	0.00198382	0	0
PSMB2	5690	broad.mit.edu	37	1	36074989	36074989	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:36074989G>A	ENST00000373237.3	-	4	717	c.306C>T	c.(304-306)ctC>ctT	p.L102L		NM_002794.4	NP_002785.1	P49721	PSB2_HUMAN	proteasome (prosome, macropain) subunit, beta type, 2	102					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|large_intestine(2)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			Bortezomib(DB00188)	CAGCCAGGAGGAGGTTCACAT	0.493000													5	86					0	0	0.00116845	0	0
APOB	338	broad.mit.edu	37	2	21234609	21234609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:21234609C>T	ENST00000233242.1	-	26	5258	c.5131G>A	c.(5131-5133)Gga>Aga	p.G1711R		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1711					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TAAGCACTTCCCAGTGATAGC	0.458000													54	337					0	0	0.000781405	0	0
GCNT1	2650	broad.mit.edu	37	9	79118080	79118080	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:79118080C>T	ENST00000442371.1	+	3	1722	c.783C>T	c.(781-783)gtC>gtT	p.V261V	GCNT1_ENST00000536223.1_Silent_p.V261V|GCNT1_ENST00000376730.4_Silent_p.V261V|GCNT1_ENST00000444201.2_Silent_p.V261V	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	261	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GGTATGAGGTCGTTAATGGAA	0.463000													7	75					0	0	0.00198382	0	0
PLBD1	79887	broad.mit.edu	37	12	14664330	14664330	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:14664330G>A	ENST00000240617.5	-	8	1702	c.1050C>T	c.(1048-1050)acC>acT	p.T350T		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	350					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						GATTGTTATAGGTGCCTGAAA	0.393000													6	92					0	0	0.00198382	0	0
EIF4G3	8672	broad.mit.edu	37	1	21268607	21268607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:21268607G>A	ENST00000602326.1	-	12	1473	c.890C>T	c.(889-891)cCa>cTa	p.P297L	EIF4G3_ENST00000374927.4_Missense_Mutation_p.P291L|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374937.3_Missense_Mutation_p.P297L|EIF4G3_ENST00000356916.3_Missense_Mutation_p.P302L|EIF4G3_ENST00000264211.8_Missense_Mutation_p.P291L|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000400422.1_Missense_Mutation_p.P291L	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	291					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GGTGAATATTGGTTGGCTACT	0.473000													8	91					0	0	0.000274275	0	0
CRYBA1	1411	broad.mit.edu	37	17	27581268	27581268	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:27581268G>A	ENST00000225387.3	+	6	550	c.549G>A	c.(547-549)ttG>ttA	p.L183L		NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	crystallin, beta A1	183	Beta/gamma crystallin 'Greek key' 4.				visual perception	soluble fraction	structural constituent of eye lens			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			AGTATATCTTGGAATGTGACC	0.418000													18	87					0	0	0.00074312	0	0
MAP4	4134	broad.mit.edu	37	3	47951428	47951428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:47951428C>T	ENST00000426837.2	-	10	4621	c.4534G>A	c.(4534-4536)Ggt>Agt	p.G1512S	MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Intron|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.G102S			P27816	MAP4_HUMAN	microtubule-associated protein 4	879					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		GCAGAGGGACCCTTGGGTCTT	0.453000													5	67					0	0	0.000602214	0	0
NYAP2	57624	broad.mit.edu	37	2	226446710	226446710	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:226446710C>T	ENST00000272907.6	+	4	990	c.577C>T	c.(577-579)Ccc>Tcc	p.P193S	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	193																	GATTCCTCCTCCCAAACCGAA	0.478000													27	123					0	0	0.00106085	0	0
BATF2	116071	broad.mit.edu	37	11	64756799	64756799	+	Silent	SNP	G	G	A	rs143335032	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:64756799G>A	ENST00000301887.4	-	3	757	c.627C>T	c.(625-627)ctC>ctT	p.L209L	BATF2_ENST00000527716.1_Silent_p.L185L|BATF2_ENST00000435842.2_Silent_p.L124L	NM_138456.3	NP_612465.3	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor, ATF-like 2	209						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						GCTCCAGCTCGAGGGGCTGTG	0.642000													5	22					0	0	0.000157383	0	0
ASMT	438	broad.mit.edu	37	X	1761772	1761772	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:1761772G>A	ENST00000381241.3	+	9	1186	c.987G>A	c.(985-987)ctG>ctA	p.L329L	ASMT_ENST00000381229.4_Silent_p.L301L|ASMT_ENST00000381233.3_Silent_p.L254L	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	301					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCTACTCTCTGAACATGCTTG	0.542000													8	103					0	0	0.000157383	0	0
FAM135B	51059	broad.mit.edu	37	8	139207549	139207549	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:139207549C>T	ENST00000395297.1	-	9	995	c.823_splice	c.e9-1	p.E275_splice		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	275										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGCAAGGGCCTCTAGAAAGA	0.403000										HNSCC(54;0.14)			23	80					0	0	0.000720815	0	0
ZNF331	55422	broad.mit.edu	37	19	54080585	54080585	+	Silent	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:54080585A>G	ENST00000253144.9	+	7	2104	c.771A>G	c.(769-771)aaA>aaG	p.K257K	ZNF331_ENST00000511593.2_Silent_p.K257K|ZNF331_ENST00000449416.1_Silent_p.K257K|ZNF331_ENST00000411977.2_Silent_p.K257K|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000511154.1_Silent_p.K257K|ZNF331_ENST00000513999.1_Silent_p.K257K|ZNF331_ENST00000512387.1_Silent_p.K257K	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GTGTGTATAAACTTATTCAGC	0.453000			T	?	follicular thyroid adenoma								5	68					0	0	0.00116845	0	0
NOM1	64434	broad.mit.edu	37	7	156752864	156752864	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:156752864C>T	ENST00000275820.3	+	4	1643	c.1628C>T	c.(1627-1629)aCc>aTc	p.T543I		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	543	MIF4G.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CAGGACCAGACCAGGGTACGC	0.478000													16	71					0	0	0.00074312	0	0
PDGFC	56034	broad.mit.edu	37	4	157771501	157771501	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:157771501C>T	ENST00000502773.1	-	2	676	c.186G>A	c.(184-186)agG>agA	p.R62R	PDGFC_ENST00000422544.2_Silent_p.R62R|PDGFC_ENST00000541126.1_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	62	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TATGAGGAAACCTTGGGCTGT	0.368000													6	43					0	0	0.00198382	0	0
COL23A1	91522	broad.mit.edu	37	5	177694309	177694309	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:177694309C>T	ENST00000390654.3	-	8	878	c.522_splice	c.e8+1	p.R174_splice	COL23A1_ENST00000407622.1_Splice_Site_p.R138_splice	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	174	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		GGTTCTTACCCGGGGGCCAAA	0.557000													8	19					0	0	0.000673444	0	0
OR52R1	119695	broad.mit.edu	37	11	4824701	4824701	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:4824701C>T	ENST00000380382.1	-	1	1146	c.1147G>A	c.(1147-1149)Gac>Aac	p.D383N	MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.D304N|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAACCCTGTCCCCGATCTGT	0.468000													11	41					0	0	0.000673444	0	0
APOB	338	broad.mit.edu	37	2	21234637	21234637	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:21234637C>T	ENST00000233242.1	-	26	5230	c.5103G>A	c.(5101-5103)ggG>ggA	p.G1701G		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1701					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGGCGGCTTTCCCATCCAGAC	0.468000													34	319					0	0	0.00111076	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530011	5530011	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:5530011C>T	ENST00000311659.4	-	2	925	c.778G>A	c.(778-780)Gat>Aat	p.D260N	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	260								p.D260Y(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCATAATATCTGTGTACATA	0.527000													17	83					0	0	0.000566183	0	0
NTRK3	4916	broad.mit.edu	37	15	88476248	88476248	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:88476248G>A	ENST00000394480.1	-	16	2205	c.1884C>T	c.(1882-1884)ttC>ttT	p.F628F	NTRK3_ENST00000360948.2_Silent_p.F628F|NTRK3_ENST00000558676.1_Silent_p.F620F|NTRK3_ENST00000355254.2_Silent_p.F628F|NTRK3_ENST00000357724.2_Silent_p.F620F|NTRK3_ENST00000557856.1_Silent_p.F620F|NTRK3_ENST00000542733.2_Silent_p.F530F	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	628	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTTACCTGAGGAACTTATTCA	0.512000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			6	26					0	0	0.000157383	0	0
KRTAP4-12	83755	broad.mit.edu	37	17	39279985	39279985	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:39279985G>A	ENST00000394014.1	-	1	434	c.390C>T	c.(388-390)tgC>tgT	p.C130C		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	130	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].		Missing (in allele KAP4.12-v1).			keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			cagactggcagcactggggtc	0.677000													8	43					0	0	0.000442599	0	0
VSTM4	196740	broad.mit.edu	37	10	50255086	50255086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:50255086G>A	ENST00000332853.3	-	7	802	c.779C>T	c.(778-780)cCg>cTg	p.P260L		NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	260						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GGGGGCTATCGGAGCTGTGGA	0.478000													21	155					0	0	0.00278032	0	0
EHF	26298	broad.mit.edu	37	11	34680103	34680103	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:34680103G>A	ENST00000257831.3	+	8	752	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	EHF_ENST00000530286.1_Missense_Mutation_p.E211K|EHF_ENST00000531794.1_Missense_Mutation_p.E233K|EHF_ENST00000450654.2_Missense_Mutation_p.E188K|EHF_ENST00000533754.1_Missense_Mutation_p.E211K	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	ets homologous factor	211					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			TCACTTATGGGAATTCATCCG	0.468000													12	64					0	0	0.000422831	0	0
PNISR	25957	broad.mit.edu	37	6	99848994	99848994	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:99848994G>A	ENST00000369239.5	-	12	2044	c.1840C>T	c.(1840-1842)Cga>Tga	p.R614*	PNISR_ENST00000438806.1_Nonsense_Mutation_p.R614*	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	614						nuclear speck		p.R614*(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						CGTCTCTCTCGGGAAGGACTC	0.438000													6	52					0	0	0.00198382	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955392	18955392	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:18955392C>T	ENST00000302797.3	-	1	1164	c.940G>A	c.(940-942)Gag>Aag	p.E314K		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	314					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCCGACAGCTCCAGGATTTCC	0.557000													6	96					0	0	0.000157383	0	0
KRT83	3889	broad.mit.edu	37	12	52709720	52709720	+	Missense_Mutation	SNP	C	C	T	rs57802288		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:52709720C>T	ENST00000293670.3	-	7	1281	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	AC121757.1_ENST00000594763.1_Intron	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	407	Coil 2.|Rod.		E -> K (in MLTRX).		epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GTGGCGATCTCGATATCCAGG	0.607000													11	46					0	0	0.00185496	0	0
EIF4G3	8672	broad.mit.edu	37	1	21167511	21167511	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:21167511T>A	ENST00000602326.1	-	28	4332	c.3749A>T	c.(3748-3750)cAg>cTg	p.Q1250L	EIF4G3_ENST00000537738.1_Missense_Mutation_p.Q734L|EIF4G3_ENST00000374935.3_Missense_Mutation_p.Q964L|EIF4G3_ENST00000374937.3_Missense_Mutation_p.Q1250L|EIF4G3_ENST00000264211.8_Missense_Mutation_p.Q1244L|EIF4G3_ENST00000536266.1_Missense_Mutation_p.Q848L|EIF4G3_ENST00000400422.1_Missense_Mutation_p.Q1244L	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1244	MI.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TTCCACACACTGCATGGCTTC	0.438000													9	52					0	0	0.000442599	0	0
LAMB1	3912	broad.mit.edu	37	7	107626521	107626521	+	Missense_Mutation	SNP	G	G	A	rs142924307		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:107626521G>A	ENST00000393561.1	-	5	878	c.694C>T	c.(694-696)Cgt>Tgt	p.R232C	LAMB1_ENST00000222399.6_Missense_Mutation_p.R208C|LAMB1_ENST00000393560.1_Missense_Mutation_p.R208C			P07942	LAMB1_HUMAN	laminin, beta 1	208	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTAAAGCACGAAATATCACC	0.313000													9	58					0	0	0.000978159	0	0
HNF4A	3172	broad.mit.edu	37	20	43034848	43034848	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:43034848G>A	ENST00000316099.3	+	2	355	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	HNF4A_ENST00000443598.2_Missense_Mutation_p.R89Q|HNF4A_ENST00000457232.1_Missense_Mutation_p.R67Q|HNF4A_ENST00000415691.1_Missense_Mutation_p.R89Q	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	89					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGGAGCGTGCGGAAGAACCAC	0.612000													29	106					0	0	0.00178596	0	0
TMOD2	29767	broad.mit.edu	37	15	52100619	52100619	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:52100619C>T	ENST00000249700.4	+	10	1245	c.1024C>T	c.(1024-1026)Cgt>Tgt	p.R342C	TMOD2_ENST00000435126.2_Missense_Mutation_p.R306C|TMOD2_ENST00000539962.2_Missense_Mutation_p.R298C	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	342					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		TTACCTAGTTCGTAAGAAGAG	0.363000													8	50					0	0	0.000673444	0	0
TNXB	7148	broad.mit.edu	37	6	32017983	32017983	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:32017983G>A	ENST00000375244.3	-	27	9432	c.9231C>T	c.(9229-9231)agC>agT	p.S3077S	TNXB_ENST00000375247.2_Silent_p.S3075S			P22105	TENX_HUMAN	tenascin XB	3122	Fibronectin type-III 22.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCAGGACAGGCTGAGGGAGT	0.667000													31	285					0	0	0.00283554	0	0
FEM1B	10116	broad.mit.edu	37	15	68582855	68582855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:68582855C>T	ENST00000306917.4	+	2	1774	c.1159C>T	c.(1159-1161)Cga>Tga	p.R387*		NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	387					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	p.R387*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GGATCTTCTTCGATTTGCTCA	0.398000													11	64					0	0	0.00136819	0	0
ZNF732	654254	broad.mit.edu	37	4	289928	289928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:289928C>T	ENST00000419098.1	-	2	30	c.20G>A	c.(19-21)aGg>aAg	p.R7K		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	7	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						GGCCACATCCCTGAATGTTAA	0.403000													6	66					0	0	0.00116845	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249076	140249076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140249076C>T	ENST00000398640.2	+	1	388	c.388C>T	c.(388-390)Ccg>Tcg	p.P130S	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAACGACAACCCGCCGGTGTT	0.552000													27	115					0	0	0.000878237	0	0
DDX50	79009	broad.mit.edu	37	10	70670972	70670972	+	Silent	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:70670972A>G	ENST00000373585.3	+	4	716	c.609A>G	c.(607-609)caA>caG	p.Q203Q		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	203	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AAAGAAATCAAGAAACAATTA	0.373000													12	145					0	0	0.00136819	0	0
C2orf71	388939	broad.mit.edu	37	2	29294236	29294236	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:29294236G>A	ENST00000331664.5	-	1	2891	c.2892C>T	c.(2890-2892)ggC>ggT	p.G964G		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	964					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CAGATGGAGGGCCGGAGTGGT	0.647000													6	31					0	0	0.000274275	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209215530	209215530	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:209215530C>T	ENST00000264380.4	+	37	5628	c.5470C>T	c.(5470-5472)Ctc>Ttc	p.L1824F		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1824	PIPK.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTACTGTCGGCTCTACTATGC	0.418000													10	92					0	0	0.00136819	0	0
NPHS1	4868	broad.mit.edu	37	19	36339882	36339882	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:36339882G>A	ENST00000378910.5	-	8	1007	c.1008C>T	c.(1006-1008)gtC>gtT	p.V336V	NPHS1_ENST00000353632.6_Silent_p.V336V	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	336					cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACTCACAGGTGACCTGCAGTG	0.602000													20	89					0	0	0.00188189	0	0
SHE	126669	broad.mit.edu	37	1	154461816	154461816	+	Silent	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:154461816A>G	ENST00000304760.2	-	3	821	c.735T>C	c.(733-735)ggT>ggC	p.G245G		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	245										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GATCTTTGGAACCCCGTCGTC	0.473000													16	59					0	0	0.000958276	0	0
JAG1	182	broad.mit.edu	37	20	10625538	10625538	+	Missense_Mutation	SNP	C	C	T	rs6032913		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:10625538C>T	ENST00000254958.5	-	18	2832	c.2317G>A	c.(2317-2319)Ggc>Agc	p.G773S	JAG1_ENST00000423891.2_Missense_Mutation_p.G614S	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	773	EGF-like 14.				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CCCTCCCAGCCTTCCTTGCAG	0.582000									Alagille Syndrome				25	95					0	0	0.00106085	0	0
TTN	7273	broad.mit.edu	37	2	179604553	179604553	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:179604553C>T	ENST00000589042.1	-	48	13631	c.13407G>A	c.(13405-13407)ctG>ctA	p.L4469L	TTN_ENST00000591111.1_Silent_p.L4152L|TTN_ENST00000359218.5_Silent_p.L4231L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.L4106L|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Silent_p.L4298L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4152	Ig-like 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTCCATTTTCAGGTTAGCCA	0.398000													18	106					0	0	0.00121646	0	0
TAS2R19	259294	broad.mit.edu	37	12	11174815	11174815	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:11174815A>G	ENST00000390673.2	-	1	404	c.356T>C	c.(355-357)cTc>cCc	p.L119P	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	119					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CTTTAGGTGGAGAGAAATAAG	0.423000													5	57					0	0	0.000602214	0	0
ASAH2	56624	broad.mit.edu	37	10	52008326	52008326	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:52008326G>A	ENST00000395526.3	-	1	44	c.45C>T	c.(43-45)ttC>ttT	p.F15F	ASAH2_ENST00000447815.1_Silent_p.F15F	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	15					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						TTACAAGGAGGAAAATCAGGA	0.453000													5	56					0	0	0.00116845	0	0
ABCA12	26154	broad.mit.edu	37	2	215839503	215839503	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:215839503G>A	ENST00000272895.7	-	35	5686	c.5468_splice	c.e35+1	p.L1823_splice	ABCA12_ENST00000389661.4_Splice_Site_p.L1505_splice	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1823					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACCACTTACAGATCACTGGTG	0.433000													13	93					0	0	0.000422831	0	0
RNASEH1	246243	broad.mit.edu	37	2	3595539	3595539	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:3595539C>T	ENST00000315212.3	-	7	1111	c.756G>A	c.(754-756)caG>caA	p.Q252Q	RP13-512J5.1_ENST00000438485.1_Silent_p.Q3Q	NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	252	RNase H.				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		TGTCCATCCCCTGGGTAAGCC	0.423000													9	95					0	0	0.000274275	0	0
ITGB3	3690	broad.mit.edu	37	17	45362045	45362045	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:45362045G>A	ENST00000559488.1	+	4	614	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	ITGB3_ENST00000560629.1_Missense_Mutation_p.R188Q|ITGB3_ENST00000435993.2_Missense_Mutation_p.E153K|ITGB3_ENST00000571680.1_Missense_Mutation_p.E200K	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	200	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	AGAGGCCCTCGAAAACCCCTG	0.542000													22	88					0	0	0.000878237	0	0
CCDC73	493860	broad.mit.edu	37	11	32635808	32635808	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:32635808G>A	ENST00000335185.5	-	16	2099	c.2056C>T	c.(2056-2058)Ctg>Ttg	p.L686L		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	686										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CAGACTTGCAGAAAATCTGAA	0.303000													6	53					0	0	0.00116845	0	0
FASTKD5	60493	broad.mit.edu	37	20	3129384	3129384	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:3129384G>A	ENST00000380266.3	-	2	654	c.333C>T	c.(331-333)tcC>tcT	p.S111S	UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	111					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						TGTTTTCAAAGGAATCAAACA	0.468000													10	65					0	0	0.000978159	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153276476	153276476	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:153276476G>A	ENST00000290722.1	-	4	438	c.386C>T	c.(385-387)cCc>cTc	p.P129L		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	129					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCAGGGCTGGGACTGCTGCC	0.507000													15	36					0	0	0.000566183	0	0
SYCP1	6847	broad.mit.edu	37	1	115453021	115453021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:115453021G>A	ENST00000369522.3	+	17	1564	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K	SYCP1_ENST00000369518.1_Missense_Mutation_p.E442K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	442					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAAATAGGGAGAAAAGGAAAC	0.338000													9	52					0	0	0.000442599	0	0
FLNB	2317	broad.mit.edu	37	3	58124041	58124041	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:58124041G>A	ENST00000357272.4	+	29	5059	c.4894G>A	c.(4894-4896)Gaa>Aaa	p.E1632K	FLNB_ENST00000490882.1_Missense_Mutation_p.E1663K|FLNB_ENST00000358537.3_Missense_Mutation_p.E1632K|FLNB_ENST00000295956.4_Missense_Mutation_p.E1632K|FLNB_ENST00000429972.2_Missense_Mutation_p.E1632K|FLNB_ENST00000419752.2_Missense_Mutation_p.E1463K|FLNB_ENST00000493452.1_Missense_Mutation_p.E1463K|FLNB_ENST00000348383.5_Missense_Mutation_p.E1632K			O75369	FLNB_HUMAN	filamin B, beta	1632					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GAAAACTGGCGAAGAAGTAGG	0.537000													10	74					0	0	0.00136819	0	0
CHST1	8534	broad.mit.edu	37	11	45672011	45672011	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:45672011C>T	ENST00000308064.2	-	4	1133	c.463G>A	c.(463-465)Ggg>Agg	p.G155R		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	155					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CGGCTGGCCCCGCGGCGGAAG	0.682000													12	52					0	0	0.00185496	0	0
GPR111	222611	broad.mit.edu	37	6	47647972	47647972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:47647972G>A	ENST00000398742.2	+	4	482	c.433G>A	c.(433-435)Gta>Ata	p.V145I	GPR111_ENST00000296862.1_Missense_Mutation_p.V213I|GPR111_ENST00000507065.1_Missense_Mutation_p.V145I			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	213					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AAACATTGCCGTAATTGTGCA	0.423000													6	68					0	0	0.000157383	0	0
TOX2	84969	broad.mit.edu	37	20	42682992	42682992	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:42682992G>A	ENST00000358131.5	+	5	940	c.732G>A	c.(730-732)ccG>ccA	p.P244P	TOX2_ENST00000435864.2_Silent_p.P113P|TOX2_ENST00000341197.3_Silent_p.P235P|TOX2_ENST00000423191.1_Silent_p.P193P|TOX2_ENST00000372999.1_Silent_p.P193P	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CCAAGAACCCGAAGAAGAAGA	0.542000													4	12					0	0	0.00024832	0	0
DUXA	503835	broad.mit.edu	37	19	57670545	57670545	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:57670545C>T	ENST00000554048.2	-	3	281	c.282G>A	c.(280-282)gtG>gtA	p.V94V		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	94						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		TTTGAAACTCCACACCAGGTT	0.473000													8	60					0	0	0.000442599	0	0
PON1	5444	broad.mit.edu	37	7	94931621	94931621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:94931621C>T	ENST00000222381.3	-	8	1036	c.805G>A	c.(805-807)Gat>Aat	p.D269N	PON1_ENST00000542556.1_Missense_Mutation_p.D269N	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	269					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GATATGTTATCCACGAGGGTA	0.383000													6	75					0	0	0.00198382	0	0
SEMA6B	10501	broad.mit.edu	37	19	4558105	4558105	+	Missense_Mutation	SNP	C	C	T	rs148915946		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:4558105C>T	ENST00000586582.1	-	3	488	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	SEMA6B_ENST00000301293.3_Missense_Mutation_p.E60K|SEMA6B_ENST00000586965.1_Missense_Mutation_p.E60K	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	60	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGCACCTTCTGCGGGGGTC	0.632000													4	17					0	0	0.00116845	0	0
OR2J3	442186	broad.mit.edu	37	6	29080168	29080168	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:29080168C>T	ENST00000377169.1	+	1	501	c.501C>T	c.(499-501)ttC>ttT	p.F167F		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CCTTCACCTTCTGGGTACCTC	0.488000													5	45					0	0	0.000602214	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77387753	77387753	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:77387753C>T	ENST00000282849.5	-	10	1909	c.1491G>A	c.(1489-1491)gaG>gaA	p.E497E		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	497	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTTGCTTGGGCTCATCCACTA	0.423000													21	128					0	0	0.00047179	0	0
CAMK4	814	broad.mit.edu	37	5	110819866	110819866	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:110819866G>A	ENST00000282356.4	+	11	1522	c.1124G>A	c.(1123-1125)gGa>gAa	p.G375E	CAMK4_ENST00000512453.1_Missense_Mutation_p.G375E|CAMK4_ENST00000512890.1_3'UTR	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	375					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATTCCAGAAGGAGAGAAAATT	0.532000													15	61					0	0	0.00244969	0	0
TEKT5	146279	broad.mit.edu	37	16	10788230	10788230	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:10788230C>T	ENST00000283025.2	-	1	572	c.501G>A	c.(499-501)caG>caA	p.Q167Q		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	167					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TCTCCAAGTTCTGGTTCTCAG	0.607000													16	172					0	0	0.000308642	0	0
FLG	2312	broad.mit.edu	37	1	152287016	152287016	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:152287016C>T	ENST00000368799.1	-	3	381	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	116					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTTTTCTTCCTGTTTATTA	0.378000									Ichthyosis				15	95					0	0	0.00244969	0	0
CYP2C19	1557	broad.mit.edu	37	10	96612496	96612496	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:96612496G>A	ENST00000371321.3	+	9	1380	c.1298G>A	c.(1297-1299)cGg>cAg	p.R433Q	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	433			R -> W (in allele CYP2C19*5A and allele CYP2C19*5B; loss of activity; dbSNP:rs56337013).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.R433Q(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TCAGGAAAACGGATTTGTGTG	0.428000													6	50					0	0	0.000274275	0	0
PTPRD	5789	broad.mit.edu	37	9	8521505	8521505	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:8521505G>A	ENST00000381196.4	-	17	1276	c.733C>T	c.(733-735)Cat>Tat	p.H245Y	PTPRD_ENST00000486161.1_Missense_Mutation_p.H245Y|PTPRD_ENST00000356435.5_Missense_Mutation_p.H245Y|PTPRD_ENST00000355233.5_Missense_Mutation_p.H245Y|PTPRD_ENST00000537002.1_Missense_Mutation_p.H242Y|PTPRD_ENST00000397606.3_Missense_Mutation_p.H235Y|PTPRD_ENST00000358503.5_Missense_Mutation_p.H232Y|PTPRD_ENST00000397611.3_Missense_Mutation_p.H242Y|PTPRD_ENST00000397617.3_Missense_Mutation_p.H235Y|PTPRD_ENST00000540109.1_Missense_Mutation_p.H245Y|PTPRD_ENST00000360074.4_Missense_Mutation_p.H232Y	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	245	Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATGATTTCATGATTAGTGGGT	0.458000										TSP Lung(15;0.13)			7	15					0	0	0.000157383	0	0
MUC17	140453	broad.mit.edu	37	7	100685187	100685187	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:100685187C>T	ENST00000306151.4	+	3	10554	c.10490C>T	c.(10489-10491)tCa>tTa	p.S3497L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3497	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)					CCAACCAATTCATCTCCTACA	0.522000													39	229					0	0	0.00148497	0	0
RERG	85004	broad.mit.edu	37	12	15264322	15264322	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:15264322C>T	ENST00000256953.2	-	4	484	c.148G>A	c.(148-150)Gat>Aat	p.D50N	RERG_ENST00000546331.1_Missense_Mutation_p.D31N|RERG_ENST00000536465.1_Missense_Mutation_p.D50N|RERG_ENST00000537647.1_Missense_Mutation_p.D50N|RERG_ENST00000538313.1_Missense_Mutation_p.D50N	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	50					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						ACTTCATCATCGATGGTTGCT	0.333000													23	164					0	0	0.000720815	0	0
SIGLEC6	946	broad.mit.edu	37	19	52023356	52023356	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:52023356C>T	ENST00000346477.3	-	7	1362	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	SIGLEC6_ENST00000425629.3_Missense_Mutation_p.E448K|SIGLEC6_ENST00000343300.4_3'UTR|SIGLEC6_ENST00000359982.4_3'UTR|SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.E396K|CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000391797.3_3'UTR	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	448					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		ATCTTGATTTCTGAGTACTCA	0.488000													8	91					0	0	0.000274275	0	0
BAG6	7917	broad.mit.edu	37	6	31611951	31611951	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:31611951G>A	ENST00000404765.2	-	13	1865	c.1576C>T	c.(1576-1578)Cca>Tca	p.P526S	BAG6_ENST00000211379.5_Missense_Mutation_p.P490S|BAG6_ENST00000470875.1_5'UTR|BAG6_ENST00000362049.6_Missense_Mutation_p.P490S|BAG6_ENST00000375976.4_Missense_Mutation_p.P490S|BAG6_ENST00000439687.2_Missense_Mutation_p.P490S|BAG6_ENST00000375964.6_Missense_Mutation_p.P496S			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	496	4 X 29 AA approximate repeats.|Pro-rich.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GGAGCTGTTGGGAAGCCTGGC	0.662000													11	146					0	0	0.00185496	0	0
ST14	6768	broad.mit.edu	37	11	130058514	130058514	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:130058514A>G	ENST00000278742.5	+	3	749	c.331A>G	c.(331-333)Act>Gct	p.T111A		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	111					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CTCCAACTCCACTGAGTTTGT	0.567000													8	74					0	0	0.000157383	0	0
CEACAM20	125931	broad.mit.edu	37	19	45029134	45029134	+	RNA	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:45029134C>T	ENST00000454753.1	-	0	474							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TGGCCCCTACCTCTGGATCTG	0.547000													40	141					0	0	0.00170553	0	0
EPO	2056	broad.mit.edu	37	7	100320696	100320696	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:100320696T>A	ENST00000252723.2	+	5	703	c.522T>A	c.(520-522)aaT>aaA	p.N174K		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	174					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	TCTACTCCAATTTCCTCCGGG	0.582000													10	104					0	0	0.000673444	0	0
ARAP1	116985	broad.mit.edu	37	11	72423291	72423291	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:72423291G>A	ENST00000359373.5	-	7	1823	c.972C>T	c.(970-972)ccC>ccT	p.P324P	ARAP1_ENST00000334211.8_Silent_p.P79P|ARAP1_ENST00000429686.1_Silent_p.P79P|ARAP1_ENST00000393605.3_Silent_p.P84P|ARAP1_ENST00000393609.3_Silent_p.P324P|ARAP1_ENST00000455638.2_Silent_p.P324P|ARAP1_ENST00000426523.1_Silent_p.P79P			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	324					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CTGGTGTGACGGGGGTGGAGC	0.662000													16	222					0	0	0.00152264	0	0
LDOC1L	84247	broad.mit.edu	37	22	44893126	44893126	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:44893126G>A	ENST00000341255.3	-	2	820	c.311C>T	c.(310-312)cCc>cTc	p.P104L		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	104										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		CCCGGAAAAGGGCTCGGGCAG	0.637000													12	20					0	0	0.00244969	0	0
BIRC2	329	broad.mit.edu	37	11	102221006	102221006	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:102221006C>T	ENST00000227758.2	+	2	1820	c.421C>T	c.(421-423)Ccc>Tcc	p.P141S	BIRC2_ENST00000532672.1_Missense_Mutation_p.P120S|BIRC2_ENST00000530675.1_Missense_Mutation_p.P92S|BIRC2_ENST00000527910.1_3'UTR	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	141					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		TTCATTATCTCCCACCTTGGA	0.428000													28	88					0	0	0.00127121	0	0
MAGI2	9863	broad.mit.edu	37	7	77885668	77885668	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:77885668A>T	ENST00000354212.4	-	10	1892	c.1639T>A	c.(1639-1641)Tat>Aat	p.Y547N	MAGI2_ENST00000522391.1_Missense_Mutation_p.Y547N|MAGI2_ENST00000419488.1_Missense_Mutation_p.Y547N|MAGI2_ENST00000536571.1_Missense_Mutation_p.Y379N|MAGI2_ENST00000535697.1_Missense_Mutation_p.Y384N	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	547						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)				TACTCCAAATATGTTTCATAG	0.493000													17	41					0	0	0.000958276	0	0
STAT4	6775	broad.mit.edu	37	2	191900938	191900938	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:191900938G>A	ENST00000392320.2	-	17	1836	c.1522C>T	c.(1522-1524)Cgt>Tgt	p.R508C	STAT4_ENST00000470708.1_5'UTR|STAT4_ENST00000358470.4_Missense_Mutation_p.R508C	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	508					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TTAAGACCACGACCAACGTAC	0.458000													12	57					0	0	0.00185496	0	0
SLC6A14	11254	broad.mit.edu	37	X	115590108	115590108	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:115590108G>A	ENST00000371900.4	+	14	2004	c.1916G>A	c.(1915-1917)aGa>aAa	p.R639K	SLC6A14_ENST00000463626.1_3'UTR	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	639					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)	AGTGGCAGCAGAAAACCGGAA	0.358000													14	46					0	0	0.00244969	0	0
OR51T1	401665	broad.mit.edu	37	11	4903161	4903161	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:4903161C>T	ENST00000380378.1	+	1	113	c.113C>T	c.(112-114)tCc>tTc	p.S38F	OR51T1_ENST00000322049.1_Missense_Mutation_p.S11F|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTTCGTCTTCCTCAAACTTC	0.413000													6	51					0	0	0.00116845	0	0
CLEC5A	23601	broad.mit.edu	37	7	141630000	141630000	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:141630000C>T	ENST00000546910.1	-	7	667	c.471G>A	c.(469-471)caG>caA	p.Q157Q	MGAM_ENST00000497554.1_Intron|CLEC5A_ENST00000551012.2_Silent_p.Q134Q|CLEC5A_ENST00000439991.1_Silent_p.Q53Q	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	157	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					AGTTGAAATTCTGATTCTGAT	0.398000													18	66					0	0	0.00152264	0	0
FADS6	283985	broad.mit.edu	37	17	72878830	72878830	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:72878830G>A	ENST00000310226.6	-	3	382	c.368C>T	c.(367-369)gCc>gTc	p.A123V		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	129					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TGCAGTGAAGGCTGTGCACAC	0.612000													4	12					0	0	0.00024832	0	0
PCDH20	64881	broad.mit.edu	37	13	61986195	61986195	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:61986195C>T	ENST00000409186.1	-	5	4142	c.2037G>A	c.(2035-2037)gtG>gtA	p.V679V	PCDH20_ENST00000409204.4_Silent_p.V679V			Q8N6Y1	PCD20_HUMAN	protocadherin 20	652	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CACTCTGGTTCACCACAGAGA	0.453000													11	64					0	0	0.000978159	0	0
EPHA4	2043	broad.mit.edu	37	2	222347190	222347190	+	Silent	SNP	G	G	A	rs55713430		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:222347190G>A	ENST00000281821.2	-	5	1241	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	EPHA4_ENST00000409854.1_Silent_p.I400I|EPHA4_ENST00000409938.1_Silent_p.I400I|EPHA4_ENST00000392071.4_Silent_p.I349I	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	400	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGAGGTCAGTGATGGAGACTT	0.502000													21	231					0	0	0.00278032	0	0
ANO2	57101	broad.mit.edu	37	12	5939613	5939613	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:5939613G>A	ENST00000327087.8	-	6	887	c.816C>T	c.(814-816)acC>acT	p.T272T	ANO2_ENST00000356134.5_Silent_p.T273T|ANO2_ENST00000546188.1_Silent_p.T273T			Q9NQ90	ANO2_HUMAN	anoctamin 2	277						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TGCGGCTGCGGGTGGCATTAT	0.493000													5	14					0	0	0.00198382	0	0
HTRA3	94031	broad.mit.edu	37	4	8307707	8307707	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:8307707C>T	ENST00000307358.2	+	9	1410	c.1206C>T	c.(1204-1206)atC>atT	p.I402I		NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	402	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GAGGCGGCATCCAAGATGGTG	0.642000													9	73					0	0	0.00185496	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51628950	51628950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:51628950G>A	ENST00000440804.3	+	2	585	c.518G>A	c.(517-519)gGg>gAg	p.G173E	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.G173E	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	173	Ig-like C2-type 1.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TGTGAGCAGGGGACACCCCCT	0.667000													10	56					0	0	0.000978159	0	0
FAT1	2195	broad.mit.edu	37	4	187521261	187521261	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:187521261C>T	ENST00000441802.2	-	22	12103	c.11894G>A	c.(11893-11895)aGa>aAa	p.R3965K		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3965	Laminin G-like.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGAGGACTTCTTCCATGCCT	0.493000										HNSCC(5;0.00058)			7	98					0	0	0.000274275	0	0
ABCC9	10060	broad.mit.edu	37	12	22059147	22059147	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:22059147C>T	ENST00000261200.4	-	10	1530	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K	ABCC9_ENST00000261201.4_Missense_Mutation_p.E511K|ABCC9_ENST00000345162.2_Missense_Mutation_p.E511K	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	511	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.E511K(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAAATGTGTTCCCAGGCATAC	0.333000													6	41					0	0	0.00116845	0	0
SLC2A3	6515	broad.mit.edu	37	12	8086449	8086449	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:8086449A>G	ENST00000075120.7	-	2	305	c.65T>C	c.(64-66)tTc>tCc	p.F22S		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	22					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GCCAAATTGGAAAGAGCCGAT	0.438000											OREG0021656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	110					0	0	0.00188189	0	0
SPOCK3	50859	broad.mit.edu	37	4	167656143	167656143	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:167656143C>T	ENST00000357154.3	-	12	1377	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	SPOCK3_ENST00000506886.1_Missense_Mutation_p.E414K|SPOCK3_ENST00000511531.1_Missense_Mutation_p.E414K|SPOCK3_ENST00000511269.1_Missense_Mutation_p.E411K|SPOCK3_ENST00000541637.1_Missense_Mutation_p.E316K|SPOCK3_ENST00000541354.1_Missense_Mutation_p.E294K|SPOCK3_ENST00000512681.1_Missense_Mutation_p.E316K|SPOCK3_ENST00000502330.1_Missense_Mutation_p.E414K|SPOCK3_ENST00000534949.1_Missense_Mutation_p.E318K|SPOCK3_ENST00000510741.1_Missense_Mutation_p.E371K|SPOCK3_ENST00000421836.2_Missense_Mutation_p.E363K|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000504953.1_Missense_Mutation_p.E411K|SPOCK3_ENST00000357545.4_Missense_Mutation_p.E411K|SPOCK3_ENST00000535728.1_Missense_Mutation_p.E282K	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	414	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		tcttcaatttcatcttcatca	0.353000													6	29					0	0	0.00116845	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:72663998T>G	ENST00000425256.1	-	0	902					NR_002164.1																						ATAGCCGGGGTCCTTGAATAC	0.488000													4	50					0	0	0.00024832	0	0
NMUR2	56923	broad.mit.edu	37	5	151784282	151784282	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:151784282G>A	ENST00000255262.3	-	1	558	c.393C>T	c.(391-393)ttC>ttT	p.F131F	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	131					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGATGGAGGCGAAGCACACGG	0.627000													8	42					0	0	0.000673444	0	0
C1orf141	400757	broad.mit.edu	37	1	67592915	67592915	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:67592915T>A	ENST00000371007.2	-	3	118	c.9A>T	c.(7-9)gaA>gaT	p.E3D	C1orf141_ENST00000544837.1_Missense_Mutation_p.E3D|C1orf141_ENST00000371006.1_Missense_Mutation_p.E3D	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	3										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						CTAGGATTTTTTCTGCCATTG	0.318000													9	143					0	0	0.000274275	0	0
PTPRD	5789	broad.mit.edu	37	9	8389365	8389365	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:8389365C>G	ENST00000381196.4	-	34	4796	c.4253G>C	c.(4252-4254)gGg>gCg	p.G1418A	PTPRD_ENST00000486161.1_Missense_Mutation_p.G1011A|PTPRD_ENST00000356435.5_Missense_Mutation_p.G1418A|PTPRD_ENST00000355233.5_Missense_Mutation_p.G1012A|PTPRD_ENST00000537002.1_Missense_Mutation_p.G1008A|PTPRD_ENST00000397606.3_Missense_Mutation_p.G1011A|PTPRD_ENST00000358503.5_Missense_Mutation_p.G1396A|PTPRD_ENST00000397611.3_Missense_Mutation_p.G1008A|PTPRD_ENST00000397617.3_Missense_Mutation_p.G1011A|PTPRD_ENST00000540109.1_Missense_Mutation_p.G1418A|PTPRD_ENST00000360074.4_Missense_Mutation_p.G1405A	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1418	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTTCCTATACCCATCTATGTA	0.458000										TSP Lung(15;0.13)			8	40					0	0	0.000157383	0	0
GLI2	2736	broad.mit.edu	37	2	121748187	121748187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:121748187G>A	ENST00000452319.1	+	14	4757	c.4697G>A	c.(4696-4698)gGg>gAg	p.G1566E	GLI2_ENST00000361492.4_Missense_Mutation_p.G1566E|GLI2_ENST00000314490.11_Missense_Mutation_p.G828R			P10070	GLI2_HUMAN	GLI family zinc finger 2	1566					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ATGGCTGTCGGGGACATGAGC	0.642000													11	30					0	0	0.000673444	0	0
NEB	4703	broad.mit.edu	37	2	152342309	152342309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:152342309C>T	ENST00000397345.3	-	182	25745	c.25543G>A	c.(25543-25545)Gga>Aga	p.G8515R	NEB_ENST00000509223.2_Missense_Mutation_p.G428R|NEB_ENST00000172853.10_Missense_Mutation_p.G6659R|NEB_ENST00000604864.1_Missense_Mutation_p.G8515R|NEB_ENST00000397336.2_Missense_Mutation_p.G490R|NEB_ENST00000409198.1_Missense_Mutation_p.G6659R|NEB_ENST00000603639.1_Missense_Mutation_p.G8515R|NEB_ENST00000427231.2_Missense_Mutation_p.G8515R	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6659					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGGAGCATTCCGGTCCTGCCA	0.468000													15	188					0	0	0.00188189	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810698	106810698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:106810698C>T	ENST00000526355.1	-	4	1162	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.E232K|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.E232K	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	232					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AGAGTACCTTCAGGGAGCTCT	0.458000													16	73					0	0	0.000422831	0	0
MYT1L	23040	broad.mit.edu	37	2	1926913	1926913	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:1926913T>A	ENST00000399161.2	-	10	1375	c.628A>T	c.(628-630)Aaa>Taa	p.K210*	MYT1L_ENST00000428368.2_Nonsense_Mutation_p.K210*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	210					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCAGCGATTTTGCCGAGGTTT	0.423000													5	35					0	0	0.000602214	0	0
PRB2	653247	broad.mit.edu	37	12	11546467	11546467	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:11546467C>T	ENST00000389362.4	-	3	580	c.545G>A	c.(544-546)gGa>gAa	p.G182E	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGGGGTGGTCCTTGTGGCTT	0.597000													21	150					0	0	0.001512	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	5605694	5605694	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrY:5605694C>T	ENST00000215473.6	+	6	3734	c.3734C>T	c.(3733-3735)gCt>gTt	p.A1245V				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1245					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTAGCACAGGCTGCTGCAATC	0.567000													6	42					0	0	0.00198382	0	0
DCDC1	341019	broad.mit.edu	37	11	30946900	30946900	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:30946900C>T	ENST00000597505.1	-	21	2952	c.2953G>A	c.(2953-2955)Ggg>Agg	p.G985R	DCDC1_ENST00000339794.5_Missense_Mutation_p.G64R|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	220					intracellular signal transduction			p.G64R(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATTTCCTTCCCCTTTTCATTG	0.353000													28	162					0	0	0.0024448	0	0
FRYL	285527	broad.mit.edu	37	4	48550779	48550779	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:48550779G>A	ENST00000358350.4	-	40	5420	c.4816C>T	c.(4816-4818)Ctc>Ttc	p.L1606F	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.L1606F|FRYL_ENST00000503238.1_Missense_Mutation_p.L1606F	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	1606					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCAATGATGAGATCAGTCAAA	0.338000													7	76					0	0	0.000157383	0	0
KLKB1	3818	broad.mit.edu	37	4	187158042	187158042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:187158042C>T	ENST00000264690.6	+	5	623	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	KLKB1_ENST00000513864.1_Missense_Mutation_p.R146C	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	146	Apple 2.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CAGTAACATTCGCTGCCAGTT	0.408000													10	84					0	0	0.000978159	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33565386	33565386	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:33565386C>T	ENST00000321505.4	+	1	1566	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	KIAA1549L_ENST00000265654.5_Silent_p.F462F|KIAA1549L_ENST00000389726.3_Silent_p.F462F					KIAA1549-like																		CTCAGGATTTCAAAGATACTG	0.458000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	163					0	0	0.000673444	0	0
CD163	9332	broad.mit.edu	37	12	7639184	7639184	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:7639184C>T	ENST00000359156.4	-	10	2571	c.2369G>A	c.(2368-2370)gGa>gAa	p.G790E	CD163_ENST00000396620.3_Missense_Mutation_p.G823E|CD163_ENST00000432237.2_Missense_Mutation_p.G790E|CD163_ENST00000541972.1_Missense_Mutation_p.G778E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	790	SRCR 7.				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						GGATTCTTTTCCATTGCATTT	0.522000													6	153					0	0	0.000274275	0	0
CMYA5	202333	broad.mit.edu	37	5	79031766	79031766	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:79031766C>T	ENST00000446378.2	+	2	7209	c.7178C>T	c.(7177-7179)tCc>tTc	p.S2393F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2393						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCAGCTTCCTCCAACTTTGCA	0.343000													6	55					0	0	0.000274275	0	0
MEIOB	254528	broad.mit.edu	37	16	1884340	1884340	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:1884340C>T	ENST00000412554.2	-	14	1527	c.1333G>A	c.(1333-1335)Gga>Aga	p.G445R	MEIOB_ENST00000325962.3_Missense_Mutation_p.G445R|FAHD1_ENST00000382666.4_Intron|FAHD1_ENST00000382668.4_Intron|MEIOB_ENST00000470044.1_Missense_Mutation_p.G238R|MEIOB_ENST00000452149.2_Missense_Mutation_p.G416R|MEIOB_ENST00000397344.3_Missense_Mutation_p.G416R	NM_001163560.2	NP_001157032.1			meiosis specific with OB domains																		ATTTTCAATCCACTCCTTGCT	0.373000													10	65					0	0	0.00136819	0	0
KMT2A	4297	broad.mit.edu	37	11	118374553	118374553	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:118374553C>T	ENST00000534358.1	+	27	7969	c.7946C>T	c.(7945-7947)cCa>cTa	p.P2649L	KMT2A_ENST00000389506.5_Missense_Mutation_p.P2646L|KMT2A_ENST00000354520.4_Missense_Mutation_p.P2608L	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GAAGACATTCCATTCTACAGC	0.493000													5	33					0	0	0.000602214	0	0
VWF	7450	broad.mit.edu	37	12	6167151	6167151	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:6167151C>T	ENST00000261405.5	-	14	1847	c.1593G>A	c.(1591-1593)caG>caA	p.Q531Q		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	531	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGTCGTCGCCCTGGTTGCCAT	0.662000													7	59					0	0	0.000274275	0	0
DGUOK	1716	broad.mit.edu	37	2	74177794	74177794	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:74177794C>T	ENST00000264093.4	+	4	611	c.526C>T	c.(526-528)Ctc>Ttc	p.L176F	DGUOK-AS1_ENST00000453103.1_RNA|DGUOK_ENST00000462685.1_3'UTR|DGUOK_ENST00000348222.1_Intron|DGUOK_ENST00000356837.6_Missense_Mutation_p.L154F	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	176					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						GCATTCTTTTCTCCTGTGGGA	0.468000													17	209					0	0	0.00188189	0	0
METTL9	51108	broad.mit.edu	37	16	21666694	21666694	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:21666694G>A	ENST00000358154.3	+	5	1156	c.898G>A	c.(898-900)Gac>Aac	p.D300N	METTL9_ENST00000396014.4_Missense_Mutation_p.D299N	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	300										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		GTGTGAAGGCGACATGTATAA	0.458000													12	63					0	0	0.000308642	0	0
APOB	338	broad.mit.edu	37	2	21231351	21231351	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:21231351C>T	ENST00000233242.1	-	26	8516	c.8389G>A	c.(8389-8391)Gga>Aga	p.G2797R		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2797					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGGACTCTCCTTTGGCAGTG	0.423000													40	314					0	0	0.00128727	0	0
TNR	7143	broad.mit.edu	37	1	175372465	175372465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:175372465C>T	ENST00000367674.1	-	4	1495	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	TNR_ENST00000263525.2_Missense_Mutation_p.E263K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	263	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.E263K(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CACCTCAGTTCCCTGCAGTCC	0.637000													5	13					0	0	0.00116845	0	0
ZNF418	147686	broad.mit.edu	37	19	58437878	58437878	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:58437878C>T	ENST00000396147.1	-	4	1962	c.1671G>A	c.(1669-1671)caG>caA	p.Q557Q	ZNF418_ENST00000599852.1_Silent_p.Q472Q|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000595830.1_Silent_p.Q557Q|ZNF418_ENST00000425570.3_Silent_p.Q578Q	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TGTGAGTTTTCTGATGTCGAA	0.463000													8	84					0	0	0.000442599	0	0
BATF2	116071	broad.mit.edu	37	11	64756867	64756867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:64756867C>T	ENST00000301887.4	-	3	689	c.559G>A	c.(559-561)Ggg>Agg	p.G187R	BATF2_ENST00000527716.1_Missense_Mutation_p.G163R|BATF2_ENST00000435842.2_Missense_Mutation_p.G102R	NM_138456.3	NP_612465.3	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor, ATF-like 2	187						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						GAGGAAGACCCCTGCAGGCTG	0.657000													7	25					0	0	0.000157383	0	0
MYOM1	8736	broad.mit.edu	37	18	3119871	3119871	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:3119871G>A	ENST00000400569.3	-	20	3447	c.3114C>T	c.(3112-3114)gtC>gtT	p.V1038V	MYOM1_ENST00000261606.7_Silent_p.V942V|MYOM1_ENST00000356443.4_Silent_p.V1038V			P52179	MYOM1_HUMAN	myomesin 1	1038						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTTTACCTGGGACGGCGATGG	0.517000													5	34					0	0	0.000157383	0	0
MAGEA12	4111	broad.mit.edu	37	X	151899988	151899988	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:151899988G>A	ENST00000393900.3	-	3	1166	c.813C>T	c.(811-813)ttC>ttT	p.F271F	MAGEA12_ENST00000393869.3_Silent_p.F271F|MAGEA12_ENST00000357916.4_Silent_p.F271F|CSAG4_ENST00000361201.4_RNA	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	271	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GACCCCACAGGAACTCGTAGC	0.552000													15	40					0	0	0.000566183	0	0
ITPA	3704	broad.mit.edu	37	20	3193981	3193981	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:3193981G>A	ENST00000380113.3	+	3	333	c.141G>A	c.(139-141)ggG>ggA	p.G47G	ITPA_ENST00000455664.1_Silent_p.G30G|ITPA_ENST00000483354.1_Intron|ITPA_ENST00000399838.3_Intron	NM_033453.3	NP_258412.1	Q9BY32	ITPA_HUMAN	inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	47					nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						AGTACCAGGGGGAGCCGGATG	0.488000													9	52					0	0	0.000673444	0	0
MUC16	94025	broad.mit.edu	37	19	9068223	9068223	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9068223C>T	ENST00000397910.4	-	3	19426	c.19223G>A	c.(19222-19224)aGa>aAa	p.R6408K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6410	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						GATGGATGTTCTGCTAGAGGA	0.483000													6	64					0	0	0.000157383	0	0
GPR152	390212	broad.mit.edu	37	11	67219347	67219347	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:67219347C>T	ENST00000312457.2	-	1	853	c.849G>A	c.(847-849)ctG>ctA	p.L283L		NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	283						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TGAGTAGGATCAGGTAGTCGG	0.652000													6	36					0	0	0.00116845	0	0
SLC6A2	6530	broad.mit.edu	37	16	55703514	55703514	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:55703514C>T	ENST00000379906.2	+	2	567	c.312C>T	c.(310-312)atC>atT	p.I104I	SLC6A2_ENST00000219833.8_Silent_p.I104I|SLC6A2_ENST00000414754.3_Silent_p.I104I|SLC6A2_ENST00000568943.1_Silent_p.I104I|SLC6A2_ENST00000566163.1_Silent_p.I104I|SLC6A2_ENST00000561820.1_Silent_p.I104I	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	104					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCCTTATCATCGCGGGGATGC	0.572000													8	45					0	0	0.000157383	0	0
SRCAP	10847	broad.mit.edu	37	16	30751005	30751005	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:30751005C>T	ENST00000262518.4	+	34	10029	c.9644C>T	c.(9643-9645)tCc>tTc	p.S3215F	SRCAP_ENST00000344771.4_Missense_Mutation_p.S3057F|SRCAP_ENST00000395059.2_Missense_Mutation_p.S3153F	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	3215					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCCCCTCCCTCCCTGGCTGGC	0.687000													4	2					0	0	0.000602214	0	0
MERTK	10461	broad.mit.edu	37	2	112751858	112751858	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:112751858G>A	ENST00000295408.4	+	9	1584	c.1327G>A	c.(1327-1329)Ggc>Agc	p.G443S	MERTK_ENST00000421804.2_Missense_Mutation_p.G443S|MERTK_ENST00000409780.1_Missense_Mutation_p.G267S			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	443	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TGGCCAGAATGGCAGCCGAGC	0.532000													6	98					0	0	0.000157383	0	0
MCM2	4171	broad.mit.edu	37	3	127325113	127325113	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:127325113C>T	ENST00000265056.7	+	5	1070	c.826C>T	c.(826-828)Cgc>Tgc	p.R276C		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	276					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						CAAGTACGACCGCATCACCAA	0.632000													14	117					0	0	0.000422831	0	0
CD8B	926	broad.mit.edu	37	2	87042833	87042833	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:87042833C>T	ENST00000393761.2	-	4	560	c.502G>A	c.(502-504)Ggg>Agg	p.G168R	CD8B_ENST00000331469.2_Missense_Mutation_p.G210E|CD8B_ENST00000349455.3_Missense_Mutation_p.G180E|CD8B_ENST00000393759.2_3'UTR	NM_001178100.1	NP_001171571.1	P10966	CD8B_HUMAN	CD8b molecule	0					immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						TATACCTTCCCCTTGAGGCCT	0.413000													18	125					0	0	0.000566183	0	0
PLA2G3	50487	broad.mit.edu	37	22	31533739	31533739	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:31533739G>A	ENST00000215885.3	-	4	1275	c.1023C>T	c.(1021-1023)gcC>gcT	p.A341A		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	341					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GGCCTGTGGGGGCCACATCAA	0.617000													18	97					0	0	0.00152264	0	0
FAT3	120114	broad.mit.edu	37	11	92533811	92533811	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:92533811C>T	ENST00000298047.6	+	9	7649	c.7632C>T	c.(7630-7632)ttC>ttT	p.F2544F	FAT3_ENST00000525166.1_Silent_p.F2394F|FAT3_ENST00000409404.2_Silent_p.F2544F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2544	Cadherin 23.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGGATCGATTCCTCATAGACA	0.483000										TCGA Ovarian(4;0.039)			38	260					0	0	0.00195071	0	0
TEKT1	83659	broad.mit.edu	37	17	6718592	6718592	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:6718592C>T	ENST00000338694.2	-	5	648	c.519G>A	c.(517-519)aaG>aaA	p.K173K	TEKT1_ENST00000535086.1_Silent_p.K27K	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	173					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CCTTCAAATCCTTCTCAAGAT	0.493000													16	77					0	0	0.00121646	0	0
MYH15	22989	broad.mit.edu	37	3	108107868	108107868	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:108107868G>A	ENST00000273353.3	-	39	5600	c.5544C>T	c.(5542-5544)gcC>gcT	p.A1848A		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1848						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTCCCCTCTGGGCCTCTGCAC	0.567000													10	88					0	0	0.00244969	0	0
MIP	4284	broad.mit.edu	37	12	56848193	56848193	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:56848193G>A	ENST00000257979.4	-	1	233	c.205C>T	c.(205-207)Cct>Tct	p.P69S	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	69					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						GTGACTGCAGGATTGACGTGG	0.607000													16	28					0	0	0.00074312	0	0
SAMD7	344658	broad.mit.edu	37	3	169656172	169656172	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:169656172G>A	ENST00000428432.2	+	9	1608	c.1219G>A	c.(1219-1221)Gat>Aat	p.D407N	SAMD7_ENST00000335556.3_Missense_Mutation_p.D407N	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	407										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			ACAAGCATTTGATCAACCAGC	0.343000													14	69					0	0	0.000422831	0	0
BMPER	168667	broad.mit.edu	37	7	34094912	34094912	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:34094912C>T	ENST00000297161.2	+	10	1298	c.924C>T	c.(922-924)ttC>ttT	p.F308F	BMPER_ENST00000426693.1_Silent_p.F308F	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	308	VWFC 5.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ACAAGATTTTCCAGGTATGTC	0.468000													17	97					0	0	0.000958276	0	0
CWC27	10283	broad.mit.edu	37	5	64084836	64084836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:64084836C>T	ENST00000508024.1	+	7	859	c.658C>T	c.(658-660)Cga>Tga	p.R220*	CWC27_ENST00000381070.3_Nonsense_Mutation_p.R220*			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	220					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						GGAAGTAAATCGAGTTAGTCA	0.338000													6	40					0	0	0.000157383	0	0
TMEM63C	57156	broad.mit.edu	37	14	77715210	77715210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:77715210C>T	ENST00000298351.4	+	20	2009	c.1865C>T	c.(1864-1866)cCt>cTt	p.P622L		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	622						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		ATCATTGTGCCTTTTGGTGAG	0.547000													8	67					0	0	0.000442599	0	0
COL2A1	1280	broad.mit.edu	37	12	48372487	48372487	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:48372487C>T	ENST00000380518.3	-	42	2952	c.2788G>A	c.(2788-2790)Ggt>Agt	p.G930S	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G861S	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	930	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCTCGAGCACCTTTGGGACCA	0.632000													7	37					0	0	0.000157383	0	0
FAT4	79633	broad.mit.edu	37	4	126241799	126241799	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:126241799G>A	ENST00000394329.3	+	1	4246	c.4233G>A	c.(4231-4233)agG>agA	p.R1411R		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1411	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTCACGTGAGGGACTTTAATG	0.393000													7	110					0	0	0.000274275	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766737	77766737	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:77766737C>T	ENST00000521891.2	+	10	8028	c.7580C>T	c.(7579-7581)cCg>cTg	p.P2527L	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2482L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2501L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2482L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2482						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTTCACTCTCCGTTCTTGGAA	0.507000										HNSCC(33;0.089)			12	112					0	0	0.00244969	0	0
IL22RA2	116379	broad.mit.edu	37	6	137468939	137468939	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:137468939G>T	ENST00000296980.2	-	6	862	c.562C>A	c.(562-564)Caa>Aaa	p.Q188K	IL22RA2_ENST00000339602.3_Intron|IL22RA2_ENST00000349184.4_Missense_Mutation_p.Q156K	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	188	Fibronectin type-III 3.				regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		TTTTCCTTTTGGTATCTATAT	0.303000													8	216					0.000442599	0.00192269	0.000442599	1	0
IRX5	10265	broad.mit.edu	37	16	54966402	54966402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:54966402C>T	ENST00000558597.1	+	1	419	c.44C>T	c.(43-45)cCa>cTa	p.P15L	IRX5_ENST00000394636.4_Intron|IRX5_ENST00000320990.5_Intron|IRX5_ENST00000560154.1_Intron			P78411	IRX5_HUMAN	iroquois homeobox 5	0					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						TCTGCGTCTCCACCGCAGGGC	0.667000													6	32					0	0	0.00198382	0	0
ZDHHC18	84243	broad.mit.edu	37	1	27175149	27175149	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:27175149C>T	ENST00000374142.3	+	3	642	c.547C>T	c.(547-549)Ctg>Ttg	p.L183L		NM_032283.2	NP_115659.1	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	183						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		CCGGGAGGTGCTGATCAACGG	0.597000													6	54					0	0	0.000274275	0	0
SCN11A	11280	broad.mit.edu	37	3	38936224	38936224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:38936224C>T	ENST00000450244.1	-	15	2833	c.2635G>A	c.(2635-2637)Gac>Aac	p.D879N	SCN11A_ENST00000444237.2_Missense_Mutation_p.D879N|SCN11A_ENST00000456224.3_Missense_Mutation_p.D879N|SCN11A_ENST00000302328.3_Missense_Mutation_p.D879N			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	879					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GGAATGATGTCTTTGCTTTGT	0.507000													7	69					0	0	0.000157383	0	0
TM9SF4	9777	broad.mit.edu	37	20	30747905	30747905	+	Silent	SNP	G	G	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:30747905G>T	ENST00000217315.5	+	16	1969	c.1629G>T	c.(1627-1629)ctG>ctT	p.L543L	TM9SF4_ENST00000398022.2_Silent_p.L560L			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	560						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACTTCCAGCTGTGTGCAGAGG	0.537000													7	51					1.12685e-05	4.91322e-05	0.000274275	1	0
KIAA2022	340533	broad.mit.edu	37	X	73960241	73960241	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:73960241C>T	ENST00000373468.1	-	3	4802	c.4151G>A	c.(4150-4152)gGg>gAg	p.G1384E	KIAA2022_ENST00000055682.5_Missense_Mutation_p.G1384E			Q5QGS0	K2022_HUMAN	KIAA2022	1384					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCCTTGGGACCCACTGTTGAT	0.448000													16	40					0	0	0.00074312	0	0
C12orf40	283461	broad.mit.edu	37	12	40114666	40114666	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:40114666G>A	ENST00000324616.5	+	13	1726	c.1572G>A	c.(1570-1572)atG>atA	p.M524I		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	524										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AGGAAAAAATGAATAATTTTT	0.299000													7	37					0	0	0.000274275	0	0
CACNA1B	774	broad.mit.edu	37	9	140948324	140948324	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:140948324C>T	ENST00000277549.5	+	27	3991	c.1422C>T	c.(1420-1422)tcC>tcT	p.S474S	CACNA1B_ENST00000371357.1_Silent_p.S1279S|CACNA1B_ENST00000371355.4_Silent_p.S1279S|CACNA1B_ENST00000277551.2_Silent_p.S1278S|CACNA1B_ENST00000371363.1_Silent_p.S1278S|CACNA1B_ENST00000371372.1_Silent_p.S1278S			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1278					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGGTGAACTCCCTGAAGAATG	0.517000													32	163					0	0	0.00285205	0	0
USH1C	10083	broad.mit.edu	37	11	17523528	17523528	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:17523528C>T	ENST00000005226.7	-	21	2184		c.e21-1		USH1C_ENST00000527020.1_Splice_Site|USH1C_ENST00000318024.4_Splice_Site|USH1C_ENST00000529563.1_Splice_Site|USH1C_ENST00000527720.1_Splice_Site	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TCCGGAAATCCTGGAAGCAAA	0.542000													7	33					0	0	0.000274275	0	0
XRN1	54464	broad.mit.edu	37	3	142122526	142122526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:142122526G>A	ENST00000264951.4	-	18	2210	c.2093C>T	c.(2092-2094)tCa>tTa	p.S698L	XRN1_ENST00000392981.2_Missense_Mutation_p.S698L	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	698					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						AAGTTCATCTGATTCTGCATC	0.323000													16	176					0	0	0.00074312	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68725308	68725308	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:68725308T>C	ENST00000283916.6	-	2	195	c.97A>G	c.(97-99)Acc>Gcc	p.T33A	TMPRSS11D_ENST00000509584.1_Intron|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Intron	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	33					proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						AGAGCTATGGTGACTGCCAGG	0.383000													4	38					0	0	0.00024832	0	0
SPEF2	79925	broad.mit.edu	37	5	35654685	35654685	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:35654685G>A	ENST00000440995.2	+	7	835	c.835G>A	c.(835-837)Gat>Aat	p.D279N	SPEF2_ENST00000282469.6_Missense_Mutation_p.D279N|SPEF2_ENST00000356031.3_Missense_Mutation_p.D279N|SPEF2_ENST00000509059.1_Missense_Mutation_p.D279N			Q9C093	SPEF2_HUMAN	sperm flagellar 2	279					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GACAACCACCGATTTGTTAAA	0.373000													9	65					0	0	0.000673444	0	0
RALBP1	10928	broad.mit.edu	37	18	9522282	9522282	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:9522282G>A	ENST00000019317.4	+	4	1051	c.828G>A	c.(826-828)gaG>gaA	p.E276E	RALBP1_ENST00000383432.3_Silent_p.E276E			Q15311	RBP1_HUMAN	ralA binding protein 1	276	Rho-GAP.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						ACCTTCCAGAGAATTTGCTTA	0.468000													13	57					0	0	0.00185496	0	0
CRISP2	7180	broad.mit.edu	37	6	49660564	49660564	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:49660564C>T	ENST00000339139.4	-	10	890	c.654G>A	c.(652-654)aaG>aaA	p.K218K		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	218						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CAGCTGTATTCTTCAAGGAAT	0.383000													8	55					0	0	0.000274275	0	0
QRFPR	84109	broad.mit.edu	37	4	122301463	122301463	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:122301463C>T	ENST00000394427.2	-	1	751	c.340_splice	c.e1+1	p.G114_splice	QRFPR_ENST00000334383.5_Splice_Site_p.G114_splice	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	114						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						CGACTCTTACCCCCCAGCCAG	0.542000													7	34					0	0	0.00198382	0	0
EHMT1	79813	broad.mit.edu	37	9	140672440	140672440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:140672440C>T	ENST00000460843.1	+	13	2152	c.2125C>T	c.(2125-2127)Ccc>Tcc	p.P709S	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.P678S|EHMT1_ENST00000462484.1_Missense_Mutation_p.P709S	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	709					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GAGGCCAACTCCCGGCCTTTC	0.612000													10	54					0	0	0.00136819	0	0
IFT122	55764	broad.mit.edu	37	3	129221686	129221686	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:129221686C>T	ENST00000296266.3	+	21	2853	c.2661C>T	c.(2659-2661)tcC>tcT	p.S887S	IFT122_ENST00000440957.2_Silent_p.S627S|IFT122_ENST00000431818.2_Silent_p.S686S|IFT122_ENST00000347300.2_Silent_p.S777S|IFT122_ENST00000349441.2_Silent_p.S725S|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000348417.2_Silent_p.S836S|IFT122_ENST00000504021.1_Silent_p.S712S|IFT122_ENST00000507564.1_Silent_p.S828S	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	836					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ACCTCAAGTCCCTGGTGCAGC	0.647000													6	40					0	0	0.000157383	0	0
CYP3A4	1576	broad.mit.edu	37	7	99355843	99355843	+	Silent	SNP	C	C	T	rs28371761		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:99355843C>T	ENST00000354593.2	-	8	1078	c.975G>A	c.(973-975)ctG>ctA	p.L325L	CYP3A4_ENST00000336411.2_Silent_p.L475L			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	475					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|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|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	AGCTTAATTTCAGGGGGATCT	0.403000													7	81					0	0	0.00198382	0	0
DSCAM	1826	broad.mit.edu	37	21	41385204	41385204	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:41385204C>T	ENST00000400454.1	-	33	6273	c.5796G>A	c.(5794-5796)caG>caA	p.Q1932Q		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1932				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	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)				TCCGGCTTTTCTGAGGTTCCA	0.587000													12	54					0	0	0.000308642	0	0
ABCA4	24	broad.mit.edu	37	1	94473802	94473802	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:94473802G>A	ENST00000370225.3	-	42	5973	c.5887C>T	c.(5887-5889)Cgc>Tgc	p.R1963C	ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000536513.1_Missense_Mutation_p.R233C|ABCA4_ENST00000535881.1_Missense_Mutation_p.R82C	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1963	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCTCCAGGGCGAACTCCGACA	0.547000													13	53					0	0	0.00244969	0	0
FAN1	22909	broad.mit.edu	37	15	31196991	31196991	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:31196991T>C	ENST00000362065.4	+	2	416	c.125T>C	c.(124-126)cTt>cCt	p.L42P	FAN1_ENST00000561594.1_Missense_Mutation_p.L42P|FAN1_ENST00000565466.1_Missense_Mutation_p.L42P|FAN1_ENST00000561607.1_Missense_Mutation_p.L42P	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	42					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CCTGCTAAACTTGCCTGCCCC	0.403000								Direct reversal of damage					5	58					0	0	0.000602214	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762403	24762403	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:24762403A>C	ENST00000376451.2	+	2	507	c.247A>C	c.(247-249)Agc>Cgc	p.S83R	KIAA1217_ENST00000430453.2_Missense_Mutation_p.S286R|KIAA1217_ENST00000307544.6_Missense_Mutation_p.S83R|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S365R|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S285R|KIAA1217_ENST00000396446.1_Missense_Mutation_p.S83R|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S83R|KIAA1217_ENST00000376454.3_Missense_Mutation_p.S365R|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S365R			Q5T5P2	SKT_HUMAN	KIAA1217	365					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCCAAGCCCAAGCGCCATTTT	0.502000													8	51					0	0	0.000274275	0	0
FLT3	2322	broad.mit.edu	37	13	28608116	28608116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:28608116C>T	ENST00000380982.4	-	15	1931	c.1850G>A	c.(1849-1851)gGa>gAa	p.G617E	FLT3_ENST00000241453.7_Missense_Mutation_p.G617E|FLT3_ENST00000537084.1_Missense_Mutation_p.G617E			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	617	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGCACCTGATCCTAGTACCTT	0.403000			"""Mis, O"""		"""AML, ALL"""								20	129					0	0	0.00152264	0	0
FAM217A	222826	broad.mit.edu	37	6	4069785	4069785	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:4069785C>T	ENST00000274673.3	-	7	1075	c.672G>A	c.(670-672)ctG>ctA	p.L224L	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN	family with sequence similarity 217, member A	224																	GCTTCAAGTTCAGGTCCACCT	0.368000													15	172					0	0	0.00074312	0	0
HIPK1	204851	broad.mit.edu	37	1	114483056	114483056	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:114483056C>T	ENST00000369558.1	+	2	283	c.51C>T	c.(49-51)gcC>gcT	p.A17A	HIPK1_ENST00000369555.2_Silent_p.A17A|HIPK1_ENST00000426820.2_Silent_p.A17A|HIPK1_ENST00000369559.4_Silent_p.A17A|HIPK1_ENST00000369554.2_Silent_p.A17A|HIPK1_ENST00000369561.4_Silent_p.A17A			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGTCGAGTGCCTTCTGCAGTG	0.458000													13	196					0	0	0.000308642	0	0
UBA2	10054	broad.mit.edu	37	19	34929648	34929648	+	Silent	SNP	C	C	T	rs150396555	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:34929648C>T	ENST00000439527.2	+	6	768	c.270C>T	c.(268-270)atC>atT	p.I90I	UBA2_ENST00000246548.4_Silent_p.I186I			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	186					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TACATTGCATCGTTTGGGCAA	0.408000													9	110					0	0	0.000673444	0	0
DOK5	55816	broad.mit.edu	37	20	53260019	53260019	+	Missense_Mutation	SNP	G	G	A	rs145562960		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:53260019G>A	ENST00000262593.5	+	7	1108	c.758G>A	c.(757-759)cGg>cAg	p.R253Q	DOK5_ENST00000395939.1_Missense_Mutation_p.R145Q	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	253							insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			ATGAGTGAGCGGGCCGCCTCG	0.607000													6	39					0	0	0.00116845	0	0
NPAP1	23742	broad.mit.edu	37	15	24922781	24922781	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:24922781C>T	ENST00000329468.2	+	1	2241	c.1767C>T	c.(1765-1767)ttC>ttT	p.F589F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TTGTTATTTTCACATCTTCCC	0.488000													12	64					0	0	0.00136819	0	0
MAGEE1	57692	broad.mit.edu	37	X	75650874	75650874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:75650874C>T	ENST00000361470.2	+	1	2829	c.2551C>T	c.(2551-2553)Cat>Tat	p.H851Y		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	851	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TATGGGCAACCATGCCAGGGA	0.493000													4	11					0	0	0.00024832	0	0
SP140	11262	broad.mit.edu	37	2	231159024	231159024	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:231159024G>A	ENST00000392045.3	+	21	2121	c.2007G>A	c.(2005-2007)agG>agA	p.R669R	SP140_ENST00000420434.3_Silent_p.R642R|SP140_ENST00000350136.5_Silent_p.R538R|SP140_ENST00000343805.6_Silent_p.R609R|SP140_ENST00000486687.2_Silent_p.R593R|SP140_ENST00000417495.3_Silent_p.R555R	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	669					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TACGTTACAGGAAAAAAAAGG	0.373000													6	40					0	0	0.00198382	0	0
C7orf31	136895	broad.mit.edu	37	7	25181932	25181932	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:25181932G>A	ENST00000409280.1	-	9	1187	c.879C>T	c.(877-879)ccC>ccT	p.P293P	C7orf31_ENST00000283905.3_Silent_p.P293P			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	293										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						CCAGTTCAAGGGGGTCCATGG	0.408000													12	50					0	0	0.00244969	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094905	139094905	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:139094905C>T	ENST00000332797.6	+	1	249	c.94C>T	c.(94-96)Cgt>Tgt	p.R32C		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	32										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		ACGTCACTTCCGTAAACAAAC	0.637000													9	120					0	0	0.000442599	0	0
MYO18B	84700	broad.mit.edu	37	22	26239782	26239782	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:26239782G>A	ENST00000335473.7	+	18	3539	c.3289G>A	c.(3289-3291)Gac>Aac	p.D1097N	MYO18B_ENST00000407587.2_Missense_Mutation_p.D1098N|MYO18B_ENST00000536101.1_Missense_Mutation_p.D1097N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1097	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGTGCGGTACGACCTCACGGG	0.622000													11	34					0	0	0.000978159	0	0
GNPTAB	79158	broad.mit.edu	37	12	102163906	102163906	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:102163906G>A	ENST00000299314.7	-	10	1439	c.1177C>T	c.(1177-1179)Cat>Tat	p.H393Y	GNPTAB_ENST00000549940.1_Missense_Mutation_p.H393Y	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	393					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TCGATGCGATGAATGTGACTT	0.388000													44	145					0	0	0.000781405	0	0
OBSCN	84033	broad.mit.edu	37	1	228505436	228505436	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:228505436C>T	ENST00000570156.2	+	63	16778	c.16704C>T	c.(16702-16704)ccC>ccT	p.P5568P	OBSCN_ENST00000366707.4_Silent_p.P2245P|OBSCN_ENST00000366709.4_Silent_p.P1730P|OBSCN_ENST00000284548.11_Silent_p.P4611P|OBSCN_ENST00000422127.1_Silent_p.P4611P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4611					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TTCACCTGCCCCAGACAGTGC	0.677000													21	50					0	0	0.000720815	0	0
THOC6	79228	broad.mit.edu	37	16	3077243	3077243	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:3077243C>T	ENST00000326266.8	+	11	1068	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	THOC6_ENST00000575576.1_Missense_Mutation_p.R234W|THOC6_ENST00000574549.1_Missense_Mutation_p.R234W|THOC6_ENST00000253952.9_Missense_Mutation_p.R258W	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	258					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CTTCCCCATCCGGGCGCCACA	0.637000													6	42					0	0	0.000157383	0	0
PPRC1	23082	broad.mit.edu	37	10	103901671	103901671	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:103901671C>T	ENST00000278070.2	+	5	3445	c.3406C>T	c.(3406-3408)Cac>Tac	p.H1136Y	PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000370012.1_Missense_Mutation_p.H103Y|PPRC1_ENST00000413464.2_Missense_Mutation_p.H1136Y	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1136	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCCTGCTGTCCACCCAGCCCG	0.582000													4	26					0	0	0.00024832	0	0
FLG	2312	broad.mit.edu	37	1	152285743	152285743	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:152285743C>T	ENST00000368799.1	-	3	1654	c.1619G>A	c.(1618-1620)gGa>gAa	p.G540E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	540	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTGAGTGTCCAGACCTATT	0.567000									Ichthyosis				44	148					0	0	0.00285205	0	0
CDH4	1002	broad.mit.edu	37	20	60511930	60511930	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:60511930G>A	ENST00000360469.5	+	16	2768	c.2680G>A	c.(2680-2682)Gat>Aat	p.D894N	CDH4_ENST00000543233.1_Missense_Mutation_p.D820N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	894					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCAAGACTACGATTACCTCAA	0.587000													10	39					0	0	0.000978159	0	0
OR1L1	26737	broad.mit.edu	37	9	125424092	125424092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:125424092C>T	ENST00000373686.1	+	1	248	c.248C>T	c.(247-249)cCc>cTc	p.P83L				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						GTGTTCCTCCCCATCTACCTT	0.493000													6	22					0	0	0.000274275	0	0
DHX37	57647	broad.mit.edu	37	12	125461959	125461959	+	Silent	SNP	G	G	A	rs149069975		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:125461959G>A	ENST00000308736.2	-	5	914	c.816C>T	c.(814-816)atC>atT	p.I272I	DHX37_ENST00000544745.1_Silent_p.I59I	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	272	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CACCACACACGATGACGATGG	0.572000													6	49					0	0	0.00116845	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473553	53473553	+	RNA	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:53473553G>A	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TCTCCTAAATGGATTATCTGA	0.363000													7	51					0	0	0.00198382	0	0
MAP3K8	1326	broad.mit.edu	37	10	30749660	30749660	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:30749660G>A	ENST00000263056.1	+	9	1995	c.1299G>A	c.(1297-1299)gaG>gaA	p.E433E	MAP3K8_ENST00000375321.1_Silent_p.E433E|MAP3K8_ENST00000542547.1_Silent_p.E433E	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	433			Missing (in oncogenic form).		cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				GAAGCACCGAGGAATCTGAGA	0.458000													9	57					0	0	0.000274275	0	0
TBATA	219793	broad.mit.edu	37	10	72541687	72541687	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:72541687G>A	ENST00000299290.1	-	4	536	c.147C>T	c.(145-147)ttC>ttT	p.F49F	TBATA_ENST00000545575.1_Silent_p.F39F|TBATA_ENST00000456372.2_Silent_p.F49F	NM_152710.2	NP_689923.2			thymus, brain and testes associated																		GGATCCGCTCGAAATCCACAA	0.602000													6	57					0	0	0.000157383	0	0
PSG8	440533	broad.mit.edu	37	19	43259327	43259327	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:43259327C>T	ENST00000404209.4	-	4	897	c.801G>A	c.(799-801)gaG>gaA	p.E267E	PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Silent_p.E145E|PSG8_ENST00000401467.2_Silent_p.E174E|PSG8_ENST00000306511.4_Silent_p.E267E	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	267	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AGGTGTAGTTCTCACTCTTAG	0.483000													6	123					0	0	0.000157383	0	0
SLC22A11	55867	broad.mit.edu	37	11	64329895	64329895	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:64329895C>T	ENST00000301891.4	+	4	1183	c.809C>T	c.(808-810)tCc>tTc	p.S270F	SLC22A11_ENST00000377585.3_Missense_Mutation_p.S270F|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377581.3_Missense_Mutation_p.S270F	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	270					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	TTTGCCATCTCCCTGATATCC	0.617000													9	87					0	0	0.000673444	0	0
ABCA12	26154	broad.mit.edu	37	2	215821458	215821458	+	Silent	SNP	C	C	T	rs143237945	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:215821458C>T	ENST00000272895.7	-	42	6381	c.6162G>A	c.(6160-6162)gcG>gcA	p.A2054A	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Silent_p.A1736A	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2054					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.A2054A(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATTTGAAAATCGCAATGATAC	0.358000													14	81					0	0	0.00074312	0	0
MGEA5	10724	broad.mit.edu	37	10	103557835	103557835	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:103557835G>A	ENST00000361464.3	-	10	2281	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F	MGEA5_ENST00000357797.5_Missense_Mutation_p.S576F|MGEA5_ENST00000439817.1_Missense_Mutation_p.S576F|MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000370094.3_Missense_Mutation_p.S629F	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	629	Histone acetyltransferase activity (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		GGCACAATTGGAGAGCCGAGT	0.403000													5	67					0	0	0.00116845	0	0
PCLO	27445	broad.mit.edu	37	7	82764399	82764399	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:82764399G>A	ENST00000423517.2	-	3	2804	c.2467C>T	c.(2467-2469)Cga>Tga	p.R823*	PCLO_ENST00000333891.8_Nonsense_Mutation_p.R823*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	769	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATGCAGGTCGAGGTATGGCT	0.438000													27	138					0	0	0.00106085	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118357582	118357582	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:118357582G>A	ENST00000528052.1	+	8	789	c.718G>A	c.(718-720)Ggt>Agt	p.G240S	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.G240S|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.G240S			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	240					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CCAACAGATGGGTCATCTTGA	0.468000													7	50					0	0	0.00198382	0	0
OBSCN	84033	broad.mit.edu	37	1	228492228	228492228	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:228492228T>G	ENST00000570156.2	+	53	14301	c.14227T>G	c.(14227-14229)Tgt>Ggt	p.C4743G	OBSCN_ENST00000366707.4_Missense_Mutation_p.C1433G|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3786					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTCGTGCGTGTGTGGGCAGGA	0.577000													14	39					0	0	0.000308642	0	0
ZNF536	9745	broad.mit.edu	37	19	30935778	30935778	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:30935778G>A	ENST00000355537.3	+	2	1456	c.1309G>A	c.(1309-1311)Ggc>Agc	p.G437S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCTGCAGAGTGGCTTCATGAC	0.657000													7	27					0	0	0.000673444	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885812	24885812	+	Silent	SNP	C	C	T	rs150242696	by1000genomes	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:24885812C>T	ENST00000382554.3	+	9	5175	c.4857C>T	c.(4855-4857)atC>atT	p.I1619I		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1619	Integrase catalytic.				DNA integration	integral to membrane	DNA binding	p.I1619M(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ACCTGCAGATCGAGGTGGTGG	0.582000													5	28					0	0	0.000602214	0	0
GRM8	2918	broad.mit.edu	37	7	126883142	126883142	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:126883142G>A	ENST00000339582.2	-	2	925	c.117C>T	c.(115-117)tcC>tcT	p.S39S	GRM8_ENST00000358373.3_Silent_p.S39S|GRM8_ENST00000405249.1_Silent_p.S39S|GRM8_ENST00000444921.2_Silent_p.S39S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	39					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CCACCCGTATGGAATGGGCAT	0.532000										HNSCC(24;0.065)			9	56					0	0	0.000673444	0	0
CPXM1	56265	broad.mit.edu	37	20	2776943	2776943	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:2776943G>A	ENST00000380605.2	-	9	1256	c.1192C>T	c.(1192-1194)Cac>Tac	p.H398Y		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	398					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGCAGCAGGTGAATGCGCATC	0.627000													5	32					0	0	0.000602214	0	0
MXRA5	25878	broad.mit.edu	37	X	3248173	3248173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:3248173G>A	ENST00000217939.6	-	4	749	c.595C>T	c.(595-597)Cct>Tct	p.P199S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	199						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATGCTGGCAGGAAGAGTTCTA	0.483000													4	14					0	0	0.000602214	0	0
GLB1L2	89944	broad.mit.edu	37	11	134212723	134212723	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:134212723C>T	ENST00000535456.2	+	2	350	c.162C>T	c.(160-162)ttC>ttT	p.F54F	GLB1L2_ENST00000339772.7_Silent_p.F54F|GLB1L2_ENST00000389881.3_Silent_p.F54F	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	54					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GCTGGAACTTCATGCTGGAGG	0.602000													8	43					0	0	0.000157383	0	0
ZNF333	84449	broad.mit.edu	37	19	14829637	14829637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:14829637C>T	ENST00000292530.6	+	12	1589	c.1498C>T	c.(1498-1500)Cat>Tat	p.H500Y	ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Missense_Mutation_p.H391Y	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	500					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						TCTGCGAACCCATACCAGAGA	0.517000													7	46					0	0	0.000673444	0	0
PRKCQ	5588	broad.mit.edu	37	10	6540419	6540419	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:6540419C>T	ENST00000263125.5	-	5	580	c.481G>A	c.(481-483)Gag>Aag	p.E161K	PRKCQ_ENST00000397176.2_Missense_Mutation_p.E161K|PRKCQ_ENST00000539722.1_Missense_Mutation_p.E36K	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	161					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GCAGTGAACTCGTGGCACTTG	0.522000													8	66					0	0	0.000442599	0	0
OR51A7	119687	broad.mit.edu	37	11	4929499	4929499	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:4929499G>A	ENST00000359350.4	+	1	900	c.900G>A	c.(898-900)gaG>gaA	p.E300E	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAATCTGGGAGAAGATCTTGG	0.398000													12	52					0	0	0.00185496	0	0
TRPM2	7226	broad.mit.edu	37	21	45795835	45795835	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:45795835G>A	ENST00000397928.1	+	6	1336	c.891G>A	c.(889-891)gtG>gtA	p.V297V	TRPM2_ENST00000300481.9_Silent_p.V297V|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.V297V|TRPM2_ENST00000397932.2_Silent_p.V297V	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	297						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGTACGGGGTGGAGATTCCTC	0.572000													5	50					0	0	0.000274275	0	0
GRIA4	2893	broad.mit.edu	37	11	105623907	105623907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:105623907G>A	ENST00000393127.2	+	4	894	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	GRIA4_ENST00000530497.1_Missense_Mutation_p.E150K|GRIA4_ENST00000282499.5_Missense_Mutation_p.E150K|GRIA4_ENST00000393125.2_Missense_Mutation_p.E150K|GRIA4_ENST00000428631.2_Missense_Mutation_p.E150K|GRIA4_ENST00000525187.1_Missense_Mutation_p.E150K	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	150					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GGATCACTACGAATGGAACTG	0.443000													6	58					0	0	0.00116845	0	0
DPPA4	55211	broad.mit.edu	37	3	109049429	109049429	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:109049429C>T	ENST00000335658.6	-	5	675	c.621G>A	c.(619-621)gcG>gcA	p.A207A	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	207						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CTGAAATTCTCGCCCAGGAGG	0.552000													9	64					0	0	0.000442599	0	0
KCNK1	3775	broad.mit.edu	37	1	233802606	233802606	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:233802606G>A	ENST00000366621.3	+	2	789	c.621G>A	c.(619-621)gaG>gaA	p.E207E	KCNK1_ENST00000366620.1_Silent_p.E91E|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	207						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CAGTCCTGGAGGATGACTGGA	0.507000													8	82					0	0	0.000673444	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423618	47423618	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:47423618C>A	ENST00000404338.3	+	1	1686	c.1686C>A	c.(1684-1686)tgC>tgA	p.C562*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	562					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GCCCCAGCTGCCCAGCTTGTG	0.458000													9	103					3.09899e-07	1.35397e-06	0.000274275	1	0
TRHR	7201	broad.mit.edu	37	8	110131356	110131356	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:110131356C>T	ENST00000518632.1	+	3	1220	c.869C>T	c.(868-870)tCa>tTa	p.S290L	TRHR_ENST00000311762.2_Missense_Mutation_p.S290L			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	290						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GTTGTCAACTCATTTCTCTCC	0.418000													7	50					0	0	0.000157383	0	0
TCP11L2	255394	broad.mit.edu	37	12	106717399	106717399	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:106717399C>T	ENST00000546625.1	+	6	906	c.747C>T	c.(745-747)ttC>ttT	p.F249F	TCP11L2_ENST00000552690.1_3'UTR|TCP11L2_ENST00000547153.1_Silent_p.F249F|TCP11L2_ENST00000299045.3_Silent_p.F249F			Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	249										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						GAACCAAGTTCCAGGAAATTT	0.328000													38	162					0	0	0.000781405	0	0
ZNF98	148198	broad.mit.edu	37	19	22586296	22586296	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:22586296C>T	ENST00000357774.5	-	2	170	c.49G>A	c.(49-51)Gat>Aat	p.D17N	ZNF98_ENST00000601553.1_Missense_Mutation_p.D17N	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	17	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				AAGGCCACATCCCTAAATGTC	0.393000													11	63					0	0	0.00185496	0	0
CLDN17	26285	broad.mit.edu	37	21	31538577	31538577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:31538577C>T	ENST00000286808.3	-	1	394	c.359G>A	c.(358-360)gGa>gAa	p.G120E		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	120					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						TCCTGAAGTTCCCAGAAGGTA	0.517000													12	59					0	0	0.00136819	0	0
CCND2	894	broad.mit.edu	37	12	4385251	4385251	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:4385251G>A	ENST00000261254.3	+	2	545	c.276G>A	c.(274-276)ccG>ccA	p.P92P	RP11-264F23.3_ENST00000539135.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	92	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			CTGGGGTCCCGACTCCGAAGT	0.552000			T	IGL@	"""NHL,CLL"""								17	62					0	0	0.00121646	0	0
C11orf94	143678	broad.mit.edu	37	11	45928420	45928420	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:45928420C>T	ENST00000449465.1	-	2	211	c.175_splice	c.e2+1	p.D59_splice		NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN	chromosome 11 open reading frame 94	59						extracellular region		p.D59Y(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						GAGATACTACCATCCACCAGG	0.607000													9	47					0	0	0.000442599	0	0
NUP43	348995	broad.mit.edu	37	6	150057737	150057737	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:150057737G>A	ENST00000367403.3	-	5	706	c.707C>T	c.(706-708)tCc>tTc	p.S236F	NUP43_ENST00000460354.2_Silent_p.L220L|NUP43_ENST00000367404.4_Intron|NUP43_ENST00000340413.2_Silent_p.L220L			Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	0					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		CAACACAGTGGAGTGGCACTC	0.408000													15	58					0	0	0.000422831	0	0
LBP	3929	broad.mit.edu	37	20	36997666	36997666	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:36997666C>T	ENST00000217407.2	+	10	1170	c.1009C>T	c.(1009-1011)Ctg>Ttg	p.L337L		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	337					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CAACATGAACCTGGAACTCCA	0.512000													5	66					0	0	0.00116845	0	0
DNAH5	1767	broad.mit.edu	37	5	13753656	13753656	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:13753656C>T	ENST00000265104.4	-	63	10662	c.10558G>A	c.(10558-10560)Gat>Aat	p.D3520N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3520					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)					AACAGTACATCCCCTAAAATA	0.338000									Kartagener syndrome				5	87					0	0	0.00116845	0	0
AGL	178	broad.mit.edu	37	1	100340293	100340293	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:100340293C>T	ENST00000294724.4	+	8	1487	c.1009C>T	c.(1009-1011)Caa>Taa	p.Q337*	AGL_ENST00000361522.4_Nonsense_Mutation_p.Q320*|AGL_ENST00000361302.3_Nonsense_Mutation_p.Q321*|AGL_ENST00000477753.1_3'UTR|AGL_ENST00000370161.2_Nonsense_Mutation_p.Q321*|AGL_ENST00000370165.3_Nonsense_Mutation_p.Q337*|AGL_ENST00000361915.3_Nonsense_Mutation_p.Q337*|AGL_ENST00000370163.3_Nonsense_Mutation_p.Q337*	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	337					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TACGATTATTCAAGATCCTGA	0.348000													7	63					0	0	0.00198382	0	0
TRAF7	84231	broad.mit.edu	37	16	2226162	2226162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:2226162C>T	ENST00000326181.6	+	19	1991	c.1859C>T	c.(1858-1860)tCc>tTc	p.S620F		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	620					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						TTCAGTGCATCCTACGACCGG	0.682000													5	20					0	0	0.00198382	0	0
SORL1	6653	broad.mit.edu	37	11	121448065	121448065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:121448065G>A	ENST00000260197.7	+	25	3665	c.3536G>A	c.(3535-3537)gGg>gAg	p.G1179E	SORL1_ENST00000534286.1_Missense_Mutation_p.G89E|SORL1_ENST00000525532.1_Missense_Mutation_p.G123E|SORL1_ENST00000532694.1_Missense_Mutation_p.G25E	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1179	LDL-receptor class A 3.				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)		GTATGTGACGGGGACAACGAC	0.537000													5	69					0	0	0.00116845	0	0
DNAH10	196385	broad.mit.edu	37	12	124359953	124359953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:124359953C>T	ENST00000409039.3	+	46	7785	c.7760C>T	c.(7759-7761)tCg>tTg	p.S2587L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2587	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S1179L(1)|p.S2587L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGATTTATTTCGCTATTCAGT	0.443000													5	40					0	0	0.000602214	0	0
PCDHA8	56140	broad.mit.edu	37	5	140221176	140221176	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140221176C>T	ENST00000531613.1	+	1	270	c.270C>T	c.(268-270)atC>atT	p.I90I	PCDHA8_ENST00000378123.3_Silent_p.I90I|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018911.2	NP_061734.1												p.I90I(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGACCGCGAGG	0.612000													25	136					0	0	0.0024448	0	0
NOS1	4842	broad.mit.edu	37	12	117768203	117768203	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:117768203C>T	ENST00000317775.6	-	2	1357	c.672G>A	c.(670-672)aaG>aaA	p.K224K	NOS1_ENST00000344089.3_Silent_p.K224K|NOS1_ENST00000338101.4_Silent_p.K224K	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	224	PIN (nNOS-inhibiting protein) binding.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTGCCCCTCCCTTGACCCCTC	0.557000													24	75					0	0	0.000878237	0	0
AIM1	202	broad.mit.edu	37	6	107003692	107003692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:107003692G>A	ENST00000369066.3	+	15	4898	c.4411G>A	c.(4411-4413)Gaa>Aaa	p.E1471K	AIM1_ENST00000535438.1_Missense_Mutation_p.E290K	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1471	Beta/gamma crystallin 'Greek key' 10.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ATACGTGTTGGAAGAAGGCCA	0.413000													12	119					0	0	0.000978159	0	0
ADH1C	126	broad.mit.edu	37	4	100263952	100263952	+	RNA	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:100263952C>T	ENST00000515683.1	-	0	1179					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CGGATCATACCATGGTGTCAA	0.418000													17	119					0	0	0.000958276	0	0
MUC16	94025	broad.mit.edu	37	19	9068484	9068484	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9068484G>A	ENST00000397910.4	-	3	19165	c.18962C>T	c.(18961-18963)cCt>cTt	p.P6321L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6323	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						GTCTGAGTCAGGTGAGACAGT	0.463000													9	61					0	0	0.000274275	0	0
KIF18B	146909	broad.mit.edu	37	17	43006350	43006350	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:43006350G>A	ENST00000587309.1	-	12	1619	c.1596C>T	c.(1594-1596)tcC>tcT	p.S532S	KIF18B_ENST00000339151.4_Silent_p.S532S|KIF18B_ENST00000593135.1_Silent_p.S520S|KIF18B_ENST00000438933.2_Silent_p.S532S|KIF18B_ENST00000590129.1_Silent_p.S541S	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CTTGGAGCAGGGAGTACTGCC	0.582000													10	34					0	0	0.00136819	0	0
CCDC14	64770	broad.mit.edu	37	3	123665924	123665924	+	Silent	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:123665924A>G	ENST00000485727.1	-	4	5063	c.471T>C	c.(469-471)ctT>ctC	p.L157L	CCDC14_ENST00000488653.2_Silent_p.L357L|CCDC14_ENST00000489746.1_Silent_p.L157L|CCDC14_ENST00000433542.2_Silent_p.L316L|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000310351.4_Silent_p.L197L			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	357						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GAGATCGAAAAAGAGACAAAT	0.408000													9	134					0	0	0.000442599	0	0
SACS	26278	broad.mit.edu	37	13	23906653	23906653	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:23906653G>A	ENST00000382298.3	-	10	11950	c.11362C>T	c.(11362-11364)Cgt>Tgt	p.R3788C	SACS_ENST00000382292.3_Missense_Mutation_p.R3788C|SACS_ENST00000402364.1_Missense_Mutation_p.R3038C	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3788					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.R3641C(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACTGAAAACGAAATTCCCTT	0.383000													10	58					0	0	0.000978159	0	0
TRIM6	117854	broad.mit.edu	37	11	5626584	5626584	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:5626584G>A	ENST00000380097.3	+	4	863	c.621G>A	c.(619-621)gaG>gaA	p.E207E	TRIM6_ENST00000506134.1_Silent_p.E4E|TRIM6_ENST00000278302.5_Silent_p.E179E|TRIM6_ENST00000380107.1_Silent_p.E153E|TRIM6_ENST00000445329.1_Silent_p.E4E|TRIM6_ENST00000515022.1_Silent_p.E4E|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Silent_p.E207E|TRIM6_ENST00000507320.1_Silent_p.E4E|AC015691.13_ENST00000394793.2_RNA	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1			tripartite motif containing 6											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGGAGCCTGAGAGATGCAGGA	0.502000											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	22	86					0	0	0.000720815	0	0
VWA8	23078	broad.mit.edu	37	13	42161771	42161771	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:42161771G>A	ENST00000379310.3	-	42	5216	c.5148C>T	c.(5146-5148)cgC>cgT	p.R1716R		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		CTACCACCAGGCGCAGACGCT	0.542000													6	58					0	0	0.00198382	0	0
TTN	7273	broad.mit.edu	37	2	179613203	179613203	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:179613203C>T	ENST00000360870.5	-	46	14146	c.13924G>A	c.(13924-13926)Gaa>Aaa	p.E4642K	TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	756	Ig-like 26.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAATGTATTTCCTGCTGTTCC	0.368000													6	59					0	0	0.000274275	0	0
TDRD5	163589	broad.mit.edu	37	1	179587782	179587782	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:179587782A>G	ENST00000444136.1	+	5	1130	c.880A>G	c.(880-882)Act>Gct	p.T294A	TDRD5_ENST00000367614.1_Missense_Mutation_p.T294A|TDRD5_ENST00000294848.8_Missense_Mutation_p.T294A	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	294					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ACCTGGAGGAACTATCAGTTC	0.313000													15	43					0	0	0.000958276	0	0
MYOCD	93649	broad.mit.edu	37	17	12656124	12656124	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:12656124C>T	ENST00000425538.1	+	10	1719	c.1519C>T	c.(1519-1521)Cct>Tct	p.P507S	MYOCD_ENST00000395988.1_Missense_Mutation_p.P411S|MYOCD_ENST00000343344.4_Missense_Mutation_p.P507S	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	507	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGGCTCTGTTCCTTCTGAGCT	0.572000													5	15					0	0	0.000602214	0	0
IL4R	3566	broad.mit.edu	37	16	27373974	27373974	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:27373974C>T	ENST00000395762.2	+	11	1560	c.1301C>T	c.(1300-1302)cCa>cTa	p.P434L	IL4R_ENST00000380922.3_Missense_Mutation_p.P419L|IL4R_ENST00000170630.2_Missense_Mutation_p.P434L|IL4R_ENST00000543915.2_Missense_Mutation_p.P434L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	434					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TGCCTTCTTCCACCTTCGGGA	0.617000													6	33					0	0	0.000157383	0	0
DTNA	1837	broad.mit.edu	37	18	32395972	32395972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:32395972G>A	ENST00000283365.9	+	8	1054	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	DTNA_ENST00000399121.5_Missense_Mutation_p.E235K|DTNA_ENST00000348997.5_Missense_Mutation_p.E235K|DTNA_ENST00000554864.3_Missense_Mutation_p.E235K|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000595022.1_Missense_Mutation_p.E235K|DTNA_ENST00000269191.6_Missense_Mutation_p.E235K|DTNA_ENST00000598774.1_Missense_Mutation_p.E235K|DTNA_ENST00000315456.6_Missense_Mutation_p.E235K|DTNA_ENST00000597599.1_Missense_Mutation_p.E235K|DTNA_ENST00000444659.1_Missense_Mutation_p.E235K|DTNA_ENST00000269190.7_Missense_Mutation_p.E235K|DTNA_ENST00000598142.1_Missense_Mutation_p.E235K|DTNA_ENST00000399113.3_Missense_Mutation_p.E235K|DTNA_ENST00000598334.1_Missense_Mutation_p.E235K|DTNA_ENST00000399097.3_5'UTR	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	235	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AGCAAATGTGGAAAATGGTGA	0.418000													29	119					0	0	0.00178596	0	0
FMO2	2327	broad.mit.edu	37	1	171174721	171174721	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:171174721C>T	ENST00000441535.1	+	7	1248	c.1131C>T	c.(1129-1131)tcC>tcT	p.S377S	RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000209929.7_Silent_p.S377S|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445909.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	377					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCCTAGGTTCCATTTTCCCAA	0.468000													11	35					0	0	0.00244969	0	0
ELOVL2	54898	broad.mit.edu	37	6	10995380	10995380	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:10995380G>A	ENST00000354666.3	-	5	448	c.365C>T	c.(364-366)tCc>tTc	p.S122F		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	122					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TACTGATTTGGAGAAATAGTA	0.413000													20	88					0	0	0.00278032	0	0
LILRB5	10990	broad.mit.edu	37	19	54760177	54760177	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:54760177G>A	ENST00000450632.1	-	4	434	c.355_splice	c.e4-1	p.A119_splice	LILRB5_ENST00000449561.2_Silent_p.A128A|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Silent_p.A128A			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	128	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACTCGGCAGGGCTAAAAGAG	0.547000													16	78					0	0	0.00121646	0	0
FSTL1	11167	broad.mit.edu	37	3	120128462	120128462	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:120128462G>T	ENST00000295633.3	-	6	735	c.379C>A	c.(379-381)Cag>Aag	p.Q127K	FSTL1_ENST00000424703.2_Missense_Mutation_p.Q92K	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	127					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		TCCAGCCACTGGATGATGCGA	0.502000													9	49					4.68919e-08	2.05212e-07	0.000673444	1	0
SYT10	341359	broad.mit.edu	37	12	33559745	33559745	+	Silent	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:33559745T>C	ENST00000228567.3	-	3	1352	c.1056A>G	c.(1054-1056)aaA>aaG	p.K352K	SYT10_ENST00000535526.1_Silent_p.K171K	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	352						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					AGTGAATATCTTTCCATACTG	0.343000													12	46					0	0	0.00185496	0	0
FAM26F	441168	broad.mit.edu	37	6	116784675	116784675	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:116784675C>T	ENST00000368605.1	+	3	850	c.755C>T	c.(754-756)cCa>cTa	p.P252L	RP1-93H18.6_ENST00000476099.1_RNA|FAM26F_ENST00000368606.3_Missense_Mutation_p.P80L	NM_001010919.1	NP_001010919.1	Q5R3K3	FA26F_HUMAN	family with sequence similarity 26, member F	252						integral to membrane				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		TATAACACTCCAAGCATGAAA	0.388000													28	128					0	0	0.00209593	0	0
CHRDL2	25884	broad.mit.edu	37	11	74407598	74407598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:74407598C>T	ENST00000376332.3	-	11	1742	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K	CHRDL2_ENST00000263671.5_Missense_Mutation_p.G434E	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	416					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					ACCTTCAGCTCCAGGGTCTGG	0.483000													8	74					0	0	0.000274275	0	0
FLRT3	23767	broad.mit.edu	37	20	14306382	14306382	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:14306382C>T	ENST00000378053.3	-	2	2027	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	FLRT3_ENST00000341420.4_Missense_Mutation_p.E591K|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	591					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AAAGAAGTTTCCCTGATTTCC	0.413000													12	65					0	0	0.00244969	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188444	140188444	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140188444G>A	ENST00000530339.1	+	1	1672	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	PCDHA4_ENST00000356878.4_Missense_Mutation_p.E558K|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.E558K|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCTGGACGAAAACGACAA	0.667000													14	54					0	0	0.000566183	0	0
OR13C4	138804	broad.mit.edu	37	9	107289287	107289287	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:107289287G>A	ENST00000277216.3	-	1	203	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						AGATATCCAGGAAAGAGAGGT	0.438000													8	39					0	0	0.000157383	0	0
TRBV6-4	28603	broad.mit.edu	37	7	142250852	142250852	+	RNA	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:142250852G>A	ENST00000390360.3	-	0	215																											TTGAATAATGGATGAGCCTTA	0.483000													7	41					0	0	0.00198382	0	0
CACNA1D	776	broad.mit.edu	37	3	53815622	53815622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:53815622C>T	ENST00000288139.3	+	40	4898	c.4780C>T	c.(4780-4782)Cgg>Tgg	p.R1594W	CACNA1D_ENST00000350061.5_Missense_Mutation_p.R1574W|CACNA1D_ENST00000540742.1_Missense_Mutation_p.R466W|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1559W	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1574					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R1594W(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TGAAGAACTTCGGGCTGTGAT	0.453000													10	69					0	0	0.00136819	0	0
TRIM36	55521	broad.mit.edu	37	5	114482989	114482989	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:114482989C>T	ENST00000513154.1	-	3	691	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000282369.3_Missense_Mutation_p.R134Q|TRIM36_ENST00000515104.1_5'UTR			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	134						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AGTGAAGTTTCGAAACAGACC	0.473000													16	124					0	0	0.000308642	0	0
TFEC	22797	broad.mit.edu	37	7	115596747	115596747	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:115596747T>G	ENST00000265440.7	-	4	548	c.368A>C	c.(367-369)aAa>aCa	p.K123T	TFEC_ENST00000320239.7_Missense_Mutation_p.K94T|TFEC_ENST00000393485.1_Missense_Mutation_p.K94T|TFEC_ENST00000457268.1_Missense_Mutation_p.K56T|TFEC_ENST00000484212.1_Missense_Mutation_p.K213T	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	123						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			AATTTCTCTTTTCATTGGTAG	0.318000													6	17					0	0	0.00116845	0	0
MEP1B	4225	broad.mit.edu	37	18	29795177	29795177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:29795177G>A	ENST00000269202.6	+	12	1759	c.1712G>A	c.(1711-1713)aGa>aAa	p.R571K	MEP1B_ENST00000581447.1_Missense_Mutation_p.R571K	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	571	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CTGAAAAGCAGAGATTTTATA	0.373000													11	55					0	0	0.000673444	0	0
ABCC8	6833	broad.mit.edu	37	11	17485016	17485016	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:17485016A>T	ENST00000302539.4	-	4	673	c.548T>A	c.(547-549)cTc>cAc	p.L183H	ABCC8_ENST00000389817.3_Missense_Mutation_p.L183H	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	183					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTCCACGAGGAGCAGCATCCC	0.597000													26	217					0	0	0.000586117	0	0
SEC14L5	9717	broad.mit.edu	37	16	5053535	5053535	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:5053535C>T	ENST00000251170.7	+	11	1443	c.1263C>T	c.(1261-1263)atC>atT	p.I421I		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	421	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GGCTGCTCATCGTGCGAGCCC	0.657000													8	57					0	0	0.000442599	0	0
LUM	4060	broad.mit.edu	37	12	91502140	91502140	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:91502140G>A	ENST00000266718.4	-	2	1071	c.617C>T	c.(616-618)tCt>tTt	p.S206F	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	206					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						AGTTAGAAGAGAGACAGGGAG	0.413000													9	64					0	0	0.000673444	0	0
NOTCH3	4854	broad.mit.edu	37	19	15284891	15284891	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:15284891G>A	ENST00000263388.2	-	25	4799	c.4724C>T	c.(4723-4725)cCc>cTc	p.P1575L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1575					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GATCACCTCGGGGGCCAGCTC	0.632000													7	27					0	0	0.000274275	0	0
FGF12	2257	broad.mit.edu	37	3	191888290	191888290	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:191888290C>T	ENST00000454309.2	-	4	1395	c.570G>A	c.(568-570)aaG>aaA	p.K190K	FGF12_ENST00000445105.1_Silent_p.K128K|FGF12_ENST00000450716.1_Silent_p.K128K|FGF12_ENST00000430714.1_Silent_p.K91K|FGF12_ENST00000264730.3_Silent_p.K128K	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	190				K -> E (in Ref. 2; AAB18786).	cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		GCTTGGTTTTCTTCACTCTGT	0.428000													21	107					0	0	0.00152264	0	0
SLC6A7	6534	broad.mit.edu	37	5	149576304	149576304	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:149576304C>T	ENST00000230671.2	+	3	614	c.243C>T	c.(241-243)ctC>ctT	p.L81L	SLC6A7_ENST00000524041.1_Silent_p.L81L	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	81						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CCTACTTCCTCATGCTGGCCA	0.662000													8	136					0	0	0.000978159	0	0
STXBP5L	9515	broad.mit.edu	37	3	120977918	120977918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:120977918C>T	ENST00000273666.6	+	18	2132	c.1861C>T	c.(1861-1863)Cca>Tca	p.P621S	STXBP5L_ENST00000471454.1_Missense_Mutation_p.P621S|STXBP5L_ENST00000492541.1_Missense_Mutation_p.P621S|STXBP5L_ENST00000497029.1_Missense_Mutation_p.P621S|STXBP5L_ENST00000472879.1_Missense_Mutation_p.P621S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	621					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GCGAATGCCTCCAGGATATCA	0.378000													7	33					0	0	0.000157383	0	0
CXorf66	347487	broad.mit.edu	37	X	139038113	139038113	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:139038113A>G	ENST00000370540.1	-	3	1051	c.1028T>C	c.(1027-1029)aTc>aCc	p.I343T		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	343						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						ACACGTAATGATTATAACTTT	0.358000													8	45					0	0	0.000157383	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315848	30315848	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:30315848G>A	ENST00000375377.1	-	3	3330	c.3229C>T	c.(3229-3231)Ccc>Tcc	p.P1077S		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1077										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCACCTGGGGGGATTTCTATT	0.612000													12	84					0	0	0.000308642	0	0
TG	7038	broad.mit.edu	37	8	134125787	134125787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:134125787C>T	ENST00000220616.4	+	44	7734	c.7694C>T	c.(7693-7695)tCt>tTt	p.S2565F	TG_ENST00000542445.1_Missense_Mutation_p.S935F|TG_ENST00000519543.1_Missense_Mutation_p.S698F|TG_ENST00000377869.1_Missense_Mutation_p.S2508F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2565					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGGTATTACTCTCTGGAGCAC	0.562000													14	25					0	0	0.000566183	0	0
EEF1A1	1915	broad.mit.edu	37	6	74229629	74229629	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:74229629T>A	ENST00000316292.9	-	1	1112	c.121A>T	c.(121-123)Aaa>Taa	p.K41*	EEF1A1_ENST00000331523.2_Nonsense_Mutation_p.K41*|EEF1A1_ENST00000309268.6_Nonsense_Mutation_p.K41*	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	41						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TTCTCAAATTTTTCAATGGTT	0.413000													13	112					0	0	0.000566183	0	0
NCF1B	654816	broad.mit.edu	37	7	72640033	72640033	+	RNA	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:72640033C>T	ENST00000423083.1	+	0	158					NR_003186.1																						GTCCCCACCTCCTTGACTTCT	0.622000													9	20					0	0	0.000442599	0	0
WT1	7490	broad.mit.edu	37	11	32439123	32439123	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:32439123C>T	ENST00000332351.3	-	4	1234	c.950_splice	c.e4+1	p.G317_splice	WT1_ENST00000379079.2_Splice_Site_p.G105_splice|WT1_ENST00000530998.1_Splice_Site_p.G105_splice|WT1_ENST00000448076.3_Splice_Site_p.G317_splice	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	249					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			AAAACCTTACCCCTTTAAGGT	0.368000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				7	41					0	0	0.000157383	0	0
CDK11B	984	broad.mit.edu	37	1	1572086	1572086	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:1572086G>A	ENST00000407249.3	-	18	1883	c.1884C>T	c.(1882-1884)ttC>ttT	p.F628F	CDK11B_ENST00000341832.6_Silent_p.F581F|CDK11B_ENST00000317673.7_Silent_p.F626F|CDK11B_ENST00000340677.5_Silent_p.F615F			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	638	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						ACTTCCCGGGGAACAGAGGCT	0.572000													11	40					0	0	0.00185496	0	0
STIM1	6786	broad.mit.edu	37	11	4103438	4103438	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:4103438G>A	ENST00000300737.4	+	8	1563	c.994G>A	c.(994-996)Gag>Aag	p.E332K	STIM1_ENST00000533977.1_Missense_Mutation_p.E159K|STIM1_ENST00000527651.1_Missense_Mutation_p.E332K	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	332	Glu-rich.				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GAGGAAAGCAGAGAAGGAGCT	0.478000													10	69					0	0	0.000673444	0	0
PTPRO	5800	broad.mit.edu	37	12	15734691	15734691	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:15734691G>A	ENST00000281171.4	+	23	3541	c.3211G>A	c.(3211-3213)Gaa>Aaa	p.E1071K	PTPRO_ENST00000442921.2_Missense_Mutation_p.E260K|PTPRO_ENST00000348962.2_Missense_Mutation_p.E1043K|PTPRO_ENST00000445537.2_Missense_Mutation_p.E260K|PTPRO_ENST00000542557.1_Missense_Mutation_p.E232K|PTPRO_ENST00000544244.1_Missense_Mutation_p.E232K	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1071	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GATTTCAGAGGAAGAGCAGGA	0.498000													17	30					0	0	0.00074312	0	0
OPRK1	4986	broad.mit.edu	37	8	54141974	54141974	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:54141974C>T	ENST00000265572.3	-	4	1323	c.1026G>A	c.(1024-1026)cgG>cgA	p.R342R	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Silent_p.R253R|OPRK1_ENST00000520287.1_Silent_p.R342R	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	342					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AGCAGAAGTCCCGGAAACACC	0.493000													7	44					0	0	0.000157383	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50189926	50189926	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:50189926C>T	ENST00000335999.6	-	8	1918	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	569	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGAGGTGGCTCTGGGGAAGGC	0.622000													4	24					0	0	0.00116845	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757303	56757303	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:56757303G>A	ENST00000326855.2	+	1	957	c.915G>A	c.(913-915)ggG>ggA	p.G305G		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						AAGTGATAGGGAAAAAGTTAT	0.303000													7	18					0	0	0.000274275	0	0
SAMD15	161394	broad.mit.edu	37	14	77845346	77845346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:77845346G>A	ENST00000216471.4	+	1	1871	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	529										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGAAGATGACGAAACCCAGCC	0.443000													9	50					0	0	0.000442599	0	0
BCAS1	8537	broad.mit.edu	37	20	52583487	52583487	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:52583487T>A	ENST00000395961.3	-	9	1474	c.1308A>T	c.(1306-1308)gaA>gaT	p.E436D	BCAS1_ENST00000434986.2_Intron|BCAS1_ENST00000371435.2_Intron|BCAS1_ENST00000371440.3_Missense_Mutation_p.E467D	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	436						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TTGGTTTGCTTTCTTCTCTTT	0.453000													13	166					0	0	0.000422831	0	0
LAMB1	3912	broad.mit.edu	37	7	107594168	107594168	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:107594168G>A	ENST00000393561.1	-	20	3142	c.2958C>T	c.(2956-2958)taC>taT	p.Y986Y	LAMB1_ENST00000222399.6_Silent_p.Y962Y			P07942	LAMB1_HUMAN	laminin, beta 1	962	Laminin EGF-like 10.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATTGCCAAAGTATCCTGAGG	0.502000													14	73					0	0	0.00074312	0	0
XIST	7503	broad.mit.edu	37	X	73064279	73064279	+	RNA	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:73064279G>A	ENST00000429829.1	-	0	8309					NR_001564.2																						AGGCCTCAGTGATCAGCACCC	0.438000													8	12					0	0	0.000274275	0	0
TPH1	7166	broad.mit.edu	37	11	18042610	18042610	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:18042610C>T	ENST00000250018.2	-	10	1825	c.1263G>A	c.(1261-1263)atG>atA	p.M421I	TPH1_ENST00000341556.2_Missense_Mutation_p.M421I|RP1-59M18.2_ENST00000525523.1_RNA	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	421					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	GCAGCTCATTCATGGCACTGG	0.433000													12	172					0	0	0.00136819	0	0
VEPH1	79674	broad.mit.edu	37	3	157188156	157188156	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:157188156C>T	ENST00000362010.2	-	3	608	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	VEPH1_ENST00000392833.2_Missense_Mutation_p.E101K|VEPH1_ENST00000392832.2_Missense_Mutation_p.E101K|VEPH1_ENST00000494677.1_Missense_Mutation_p.E101K|VEPH1_ENST00000537559.1_Missense_Mutation_p.E101K|VEPH1_ENST00000468233.1_Missense_Mutation_p.E101K|VEPH1_ENST00000543418.1_Missense_Mutation_p.E101K	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	101						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GGAGTGTCTTCGTCTTTCCCA	0.473000													6	47					0	0	0.00198382	0	0
ZNF664	144348	broad.mit.edu	37	12	124497312	124497312	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:124497312C>T	ENST00000539644.1	+	6	2451	c.621C>T	c.(619-621)gcC>gcT	p.A207A	RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000337815.4_Silent_p.A207A|ZNF664_ENST00000538932.2_Silent_p.A207A|ZNF664_ENST00000392404.3_Silent_p.A207A			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		GTGGGAAGGCCTTCAGTCAGA	0.517000													11	48					0	0	0.000978159	0	0
SCN10A	6336	broad.mit.edu	37	3	38760156	38760156	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:38760156G>A	ENST00000449082.2	-	20	3668	c.3669C>T	c.(3667-3669)ttC>ttT	p.F1223F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1223					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCACAATGAGGAAGTCCAGCC	0.527000													5	53					0	0	0.00198382	0	0
DCP2	167227	broad.mit.edu	37	5	112327832	112327832	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:112327832C>T	ENST00000389063.2	+	3	418	c.220C>T	c.(220-222)Ccg>Tcg	p.P74S	DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Missense_Mutation_p.P74S	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN	decapping mRNA 2	74					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		CAGTCATTGTCCGTTTTTGCT	0.338000													9	185					0	0	0.000978159	0	0
MME	4311	broad.mit.edu	37	3	154884716	154884716	+	Silent	SNP	C	C	T	rs147740086		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:154884716C>T	ENST00000460393.1	+	18	1806	c.1686C>T	c.(1684-1686)ccC>ccT	p.P562P	MME_ENST00000493237.1_Silent_p.P562P|MME_ENST00000360490.2_Silent_p.P562P|MME_ENST00000492661.1_Silent_p.P562P|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000462745.1_Silent_p.P562P	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	562					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TTCTGCAGCCCCCCTTCTTTA	0.443000													8	49					0	0	0.000274275	0	0
OR5T1	390155	broad.mit.edu	37	11	56043350	56043350	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:56043350C>T	ENST00000313033.2	+	1	322	c.236C>T	c.(235-237)tCa>tTa	p.S79L		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GGTGTTTTATCATTCTTGGAT	0.373000													8	68					0	0	0.000157383	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393427	145393427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:145393427G>A	ENST00000511217.1	+	4	914	c.862G>A	c.(862-864)Ggc>Agc	p.G288S	SH3RF2_ENST00000359120.4_Missense_Mutation_p.G288S			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	288							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCCGTAGGGGCCCAGGGTC	0.557000													6	59					0	0	0.000157383	0	0
TNR	7143	broad.mit.edu	37	1	175372651	175372651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:175372651C>T	ENST00000367674.1	-	4	1309	c.601G>A	c.(601-603)Gag>Aag	p.E201K	TNR_ENST00000263525.2_Missense_Mutation_p.E201K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	201	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CAGTAGGGCTCCGAGCAATTC	0.582000													22	64					0	0	0.000586117	0	0
TTN	7273	broad.mit.edu	37	2	179584073	179584073	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:179584073G>A	ENST00000589042.1	-	83	24268	c.24044C>T	c.(24043-24045)tCa>tTa	p.S8015L	TTN_ENST00000591111.1_Missense_Mutation_p.S7698L|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S6771L|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7698	Ig-like 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S6771L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGCCAACTGAAATCGGGGC	0.502000													8	77					0	0	0.000442599	0	0
DNAH5	1767	broad.mit.edu	37	5	13900441	13900441	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:13900441G>A	ENST00000265104.4	-	15	2237	c.2133C>T	c.(2131-2133)gaC>gaT	p.D711D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	711	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)					ATATCTGAGGGTCAAAGTTTA	0.433000									Kartagener syndrome				10	67					0	0	0.000978159	0	0
CYP3A7	1551	broad.mit.edu	37	7	99312297	99312297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:99312297G>A	ENST00000336374.2	-	8	681	c.679C>T	c.(679-681)Cca>Tca	p.P227S		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	227					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					GTAAGGAATGGAAAGACTTCT	0.313000													23	118					0	0	0.000878237	0	0
PRDM5	11107	broad.mit.edu	37	4	121774688	121774688	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:121774688C>T	ENST00000264808.3	-	3	425	c.185G>A	c.(184-186)gGg>gAg	p.G62E	PRDM5_ENST00000515109.1_Missense_Mutation_p.G62E|PRDM5_ENST00000428209.2_Missense_Mutation_p.G62E|PRDM5_ENST00000394435.2_Missense_Mutation_p.G62E	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	62	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCCCTTACTCCCACGAACCTG	0.433000													9	115					0	0	0.000978159	0	0
LRGUK	136332	broad.mit.edu	37	7	133861759	133861759	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:133861759T>C	ENST00000285928.2	+	9	1120	c.1051T>C	c.(1051-1053)Ttt>Ctt	p.F351L		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	351	LRRCT.						ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CTTCGTAATTTTTATGCTTCT	0.338000													11	145					0	0	0.000978159	0	0
LRP1B	53353	broad.mit.edu	37	2	141473639	141473639	+	Silent	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:141473639A>G	ENST00000389484.3	-	37	6897	c.5926T>C	c.(5926-5928)Tta>Cta	p.L1976L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1976					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L1976V(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTTCAATTAAGTTGAAACCA	0.343000										TSP Lung(27;0.18)			5	84					0	0	0.000602214	0	0
MMEL1	79258	broad.mit.edu	37	1	2537693	2537693	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:2537693G>A	ENST00000288709.6	-	8	957	c.717C>T	c.(715-717)atC>atT	p.I239I	MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000378412.3_Silent_p.I248I	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	248					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GTACGTAGATGATGTGCCGGC	0.642000													8	57					0	0	0.000274275	0	0
ABCB4	5244	broad.mit.edu	37	7	87101970	87101970	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:87101970C>T	ENST00000265723.4	-	3	213	c.102G>A	c.(100-102)acG>acA	p.T34T	ABCB4_ENST00000545634.1_Silent_p.T34T|ABCB4_ENST00000358400.3_Silent_p.T34T|ABCB4_ENST00000453593.1_Silent_p.T34T|ABCB4_ENST00000359206.3_Silent_p.T34T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	34					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TCACTGTCTTCGTTTTTTTCC	0.249000													21	137					0	0	0.00229938	0	0
FAM83H	286077	broad.mit.edu	37	8	144808726	144808726	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:144808726G>A	ENST00000388913.3	-	5	3030	c.2905C>T	c.(2905-2907)Ctt>Ttt	p.L969F		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	969					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)			AGCTGCCTAAGACGCAAGGAG	0.701000													6	21					0	0	0.000157383	0	0
TMEM54	113452	broad.mit.edu	37	1	33363812	33363812	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:33363812A>C	ENST00000373463.3	-	2	244	c.125T>G	c.(124-126)gTg>gGg	p.V42G	TMEM54_ENST00000475208.1_5'UTR|TMEM54_ENST00000329151.5_Missense_Mutation_p.V42G	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	42						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTAGCGCAGCACTGTGCCATG	0.607000													4	48					0	0	0.00024832	0	0
OR5K3	403277	broad.mit.edu	37	3	98109976	98109976	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:98109976C>T	ENST00000383695.1	+	1	467	c.467C>T	c.(466-468)cCc>cTc	p.P156L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						AACCTGCATCCCATGATTGAA	0.428000													12	72					0	0	0.00185496	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576384	33576384	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:33576384G>A	ENST00000504830.1	-	19	4082	c.3747C>T	c.(3745-3747)ctC>ctT	p.L1249L	ADAMTS12_ENST00000352040.3_Silent_p.L1164L	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1249	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L1249L(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTCCCAGAGGGAGCAGAGTGT	0.517000										HNSCC(64;0.19)			17	74					0	0	0.000422831	0	0
KLHL6	89857	broad.mit.edu	37	3	183226039	183226039	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:183226039C>T	ENST00000341319.3	-	3	752	c.717G>A	c.(715-717)gtG>gtA	p.V239V		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	239	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CCCAGCTCATCACGGTCTCAA	0.552000													11	68					0	0	0.00185496	0	0
LIMK2	3985	broad.mit.edu	37	22	31658612	31658612	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:31658612C>G	ENST00000331728.4	+	7	803	c.689C>G	c.(688-690)aCa>aGa	p.T230R	LIMK2_ENST00000406516.1_Missense_Mutation_p.T152R|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000340552.4_Missense_Mutation_p.T209R|LIMK2_ENST00000333611.4_Missense_Mutation_p.T209R	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	230	PDZ.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						ACGAGCCAGACACTTCAGCTG	0.612000													5	82					0	0	0.00198382	0	0
ABCA8	10351	broad.mit.edu	37	17	66898986	66898986	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:66898986G>A	ENST00000269080.2	-	19	2649	c.2512C>T	c.(2512-2514)Ctt>Ttt	p.L838F	ABCA8_ENST00000586539.1_Missense_Mutation_p.L878F|ABCA8_ENST00000430352.2_Missense_Mutation_p.L878F	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	838						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TACTCCACAAGAAGAGGGCAA	0.388000													5	88					0	0	0.00198382	0	0
RIOK2	55781	broad.mit.edu	37	5	96512855	96512855	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:96512855G>A	ENST00000283109.3	-	4	531	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C	CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.R155C	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	155			R -> H (in dbSNP:rs34916955).				ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		GCAGAGAGACGAGATAAATAT	0.338000													24	122					0	0	0.00047179	0	0
TRPC6	7225	broad.mit.edu	37	11	101344298	101344298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:101344298C>T	ENST00000344327.3	-	7	2375	c.1951G>A	c.(1951-1953)Gga>Aga	p.G651R	TRPC6_ENST00000532133.1_Missense_Mutation_p.G573R|TRPC6_ENST00000348423.4_Missense_Mutation_p.G535R|TRPC6_ENST00000360497.4_Missense_Mutation_p.G596R	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	651					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTGAACATTCCAATCATAAAG	0.358000													8	31					0	0	0.000274275	0	0
GABRG2	2566	broad.mit.edu	37	5	161576178	161576178	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:161576178C>T	ENST00000356592.3	+	8	1447	c.987C>T	c.(985-987)gtC>gtT	p.V329V	GABRG2_ENST00000361925.4_Silent_p.V329V|GABRG2_ENST00000414552.2_Silent_p.V369V|GABRG2_ENST00000393933.4_Silent_p.V234V	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	329					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TCCCCAAGGTCTCCTATGTCA	0.468000													12	42					0	0	0.00136819	0	0
DZIP3	9666	broad.mit.edu	37	3	108407695	108407695	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:108407695C>T	ENST00000361582.3	+	31	3670	c.3440C>T	c.(3439-3441)cCt>cTt	p.P1147L	DZIP3_ENST00000463306.1_Missense_Mutation_p.P1147L	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	1147					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GAAGAAGAGCCTTGTGTGATC	0.358000													4	37					0	0	0.00198382	0	0
TPO	7173	broad.mit.edu	37	2	1491755	1491755	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:1491755G>A	ENST00000345913.4	+	10	1851	c.1760G>A	c.(1759-1761)gGg>gAg	p.G587E	TPO_ENST00000346956.3_Missense_Mutation_p.G587E|TPO_ENST00000349624.3_Missense_Mutation_p.G414E|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.G587E|TPO_ENST00000337415.3_Missense_Mutation_p.G587E|TPO_ENST00000382198.1_Missense_Mutation_p.G414E|TPO_ENST00000382201.3_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	587					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGGGACCACGGGCTGCCAGGT	0.577000													6	65					0	0	0.00116845	0	0
DMXL2	23312	broad.mit.edu	37	15	51773525	51773525	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:51773525G>A	ENST00000251076.5	-	24	6065	c.5778C>T	c.(5776-5778)ttC>ttT	p.F1926F	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Silent_p.F1926F|DMXL2_ENST00000449909.3_Silent_p.F1290F	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1926						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGTGAGAAATGAAGTCAGGCT	0.398000													36	177					0	0	0.000692331	0	0
DPEP3	64180	broad.mit.edu	37	16	68010128	68010128	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:68010128G>A	ENST00000268793.4	-	9	1546	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	366					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GCCCCTGAGGGAACCTGTGTG	0.602000													6	27					0	0	0.00116845	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77396160	77396160	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:77396160C>T	ENST00000282849.5	-	7	1476	c.1056_splice	c.e7-1	p.G353_splice		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	353	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G353E(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CAATAATCCTCCCTATGGGAA	0.408000													7	40					0	0	0.000157383	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56779371	56779371	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:56779371G>A	ENST00000413728.2	-	7	1293	c.750C>T	c.(748-750)tcC>tcT	p.S250S	ARHGEF3_ENST00000497267.1_Silent_p.S215S|ARHGEF3_ENST00000495373.1_Silent_p.S244S|ARHGEF3_ENST00000338458.4_Silent_p.S276S|ARHGEF3_ENST00000496106.1_Silent_p.S250S|ARHGEF3_ENST00000296315.3_Silent_p.S244S	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	244	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GGCTAAAGGGGGATTCTAAAC	0.478000													27	228					0	0	0.001512	0	0
NSD1	64324	broad.mit.edu	37	5	176638324	176638324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:176638324C>T	ENST00000439151.2	+	5	2969	c.2924C>T	c.(2923-2925)tCc>tTc	p.S975F	NSD1_ENST00000361032.4_Missense_Mutation_p.S872F|NSD1_ENST00000354179.4_Missense_Mutation_p.S706F|NSD1_ENST00000347982.4_Missense_Mutation_p.S706F	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	975					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACTCAGAACTCCGCCAATCCT	0.512000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			6	37					0	0	0.00116845	0	0
CD274	29126	broad.mit.edu	37	9	5456165	5456165	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:5456165G>A	ENST00000381577.3	+	2	138	c.52_splice	c.e2+1	p.A18_splice	CD274_ENST00000498261.1_3'UTR|CD274_ENST00000381573.4_Splice_Site_p.A18_splice	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	18					cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation	endomembrane system|integral to membrane	receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		TTTGCTGAACGGTAAGACACC	0.313000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								14	49					0	0	0.000422831	0	0
NBEA	26960	broad.mit.edu	37	13	35615209	35615209	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:35615209G>A	ENST00000400445.3	+	2	968	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	NBEA_ENST00000379939.2_Missense_Mutation_p.R145Q|NBEA_ENST00000310336.4_Missense_Mutation_p.R145Q|NBEA_ENST00000540320.1_Missense_Mutation_p.R145Q	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	145						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCCATTCTACGAAAAAGTGTT	0.408000													9	49					0	0	0.000274275	0	0
CHODL	140578	broad.mit.edu	37	21	19629128	19629128	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:19629128C>A	ENST00000299295.2	+	2	773	c.382C>A	c.(382-384)Cag>Aag	p.Q128K	CHODL_ENST00000400127.1_Missense_Mutation_p.Q87K|CHODL_ENST00000338326.3_Missense_Mutation_p.Q87K|CHODL_ENST00000400128.1_Missense_Mutation_p.Q87K|CHODL_ENST00000400131.1_Missense_Mutation_p.Q87K|CHODL_ENST00000543733.1_Missense_Mutation_p.Q109K|CHODL_ENST00000400135.1_Missense_Mutation_p.Q87K	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	128	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		AAGCAATTCCCAGTACCGGTG	0.507000													8	27					2.17888e-05	9.4963e-05	0.000442599	1	0
OR10J3	441911	broad.mit.edu	37	1	159284007	159284007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:159284007C>T	ENST00000332217.5	-	1	442	c.443G>A	c.(442-444)gGa>gAa	p.G148E		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					CCCCAGTGATCCAGAGGCCAG	0.512000													4	25					0	0	0.00024832	0	0
SYNGR4	23546	broad.mit.edu	37	19	48878892	48878892	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:48878892C>T	ENST00000344846.2	+	4	604	c.354C>T	c.(352-354)ttC>ttT	p.F118F	SYNGR4_ENST00000601610.1_Silent_p.F69F|SYNGR4_ENST00000595322.1_Intron	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	118	MARVEL.					integral to membrane				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		TTGTCTGGTTCATGGGTTTCT	0.602000													7	48					0	0	0.00198382	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919456	142919456	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:142919456C>T	ENST00000408947.3	+	1	327	c.285C>T	c.(283-285)atC>atT	p.I95I		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	95					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CAGTGTATATCCTCTTCAAAG	0.398000													8	111					0	0	0.000442599	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956034	18956034	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:18956034G>A	ENST00000302797.3	-	1	522	c.298C>T	c.(298-300)Cct>Tct	p.P100S	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	100					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATCATCACAGGATAGAGGATT	0.537000													7	233					0	0	0.000442599	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443627	5443627	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:5443627C>T	ENST00000300778.4	+	1	287	c.197C>T	c.(196-198)tCc>tTc	p.S66F	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTTTCTCTCCATGCTGGCC	0.547000													16	61					0	0	0.000566183	0	0
TSG101	7251	broad.mit.edu	37	11	18503293	18503293	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:18503293G>A	ENST00000536719.1	-	9	1101	c.967C>T	c.(967-969)Ccc>Tcc	p.P323S	TSG101_ENST00000357193.3_Missense_Mutation_p.P218S|TSG101_ENST00000251968.3_Missense_Mutation_p.P323S			Q99816	TS101_HUMAN	tumor susceptibility 101	323	SB.				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						TTGTATAAGGGAGCTGTGGGA	0.388000													7	126					0	0	0.000157383	0	0
FAM210B	116151	broad.mit.edu	37	20	54941148	54941148	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:54941148C>T	ENST00000371384.3	+	3	475	c.384C>T	c.(382-384)atC>atT	p.I128I		NM_080821.2	NP_543011.2	Q96KR6	CT108_HUMAN	family with sequence similarity 210, member B	128	DUF1279.					integral to membrane											TGCCTGCAATCCTGCTGAAAC	0.438000													5	53					0	0	0.00198382	0	0
SLC5A5	6528	broad.mit.edu	37	19	18001793	18001793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:18001793G>A	ENST00000222248.3	+	14	2097	c.1750G>A	c.(1750-1752)Gat>Aat	p.D584N		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	584					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGCCATCCTGGATGACAACTT	0.597000													6	63					0	0	0.00116845	0	0
XRCC1	7515	broad.mit.edu	37	19	44065134	44065134	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:44065134C>T	ENST00000594374.1	-	2	207	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	XRCC1_ENST00000262887.5_Silent_p.G61G|XRCC1_ENST00000543982.1_Silent_p.G30G																							AGCCATCATTCCCAATGTCCA	0.577000													9	79					0	0	0.000673444	0	0
ANO4	121601	broad.mit.edu	37	12	101295556	101295556	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:101295556C>T	ENST00000538618.1	+	4	491	c.491C>T	c.(490-492)tCa>tTa	p.S164L	ANO4_ENST00000392977.3_5'UTR|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392979.3_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	0						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGCAGAAGGTCAATAAAAATG	0.532000										HNSCC(74;0.22)			16	78					0	0	0.00121646	0	0
PTCH2	8643	broad.mit.edu	37	1	45292283	45292283	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:45292283G>A	ENST00000447098.2	-	18	2864	c.2853C>T	c.(2851-2853)ttC>ttT	p.F951F	PTCH2_ENST00000372192.3_Silent_p.F951F	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	951					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCCAGAAGAGGAAGGGGGAGC	0.657000									Basal Cell Nevus syndrome				4	24					0	0	0.000602214	0	0
CNR1	1268	broad.mit.edu	37	6	88854696	88854696	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:88854696C>T	ENST00000537554.1	-	2	3860	c.298G>A	c.(298-300)Gag>Aag	p.E100K	CNR1_ENST00000369499.2_Missense_Mutation_p.E100K|CNR1_ENST00000369501.2_Missense_Mutation_p.E100K|CNR1_ENST00000549716.1_Missense_Mutation_p.E39K|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000535130.1_Missense_Mutation_p.E100K|CNR1_ENST00000549890.1_Missense_Mutation_p.E100K|CNR1_ENST00000428600.2_Missense_Mutation_p.E100K|CNR1_ENST00000468898.1_Missense_Mutation_p.E67K	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	100					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ATGAAGTTCTCCCCACACTGG	0.532000													11	40					0	0	0.000978159	0	0
TRAV35	28647	broad.mit.edu	37	14	22690134	22690134	+	RNA	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:22690134C>T	ENST00000390462.1	+	0	93																											CTATGTTTATCCAGGAAGGAG	0.433000													4	13					0	0	0.00024832	0	0
CCDC171	203238	broad.mit.edu	37	9	15591488	15591488	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:15591488C>T	ENST00000380701.3	+	5	805	c.477C>T	c.(475-477)atC>atT	p.I159I	CCDC171_ENST00000535968.1_Silent_p.I159I|CCDC171_ENST00000297641.3_Silent_p.I159I	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	159	Glu-rich.																ACAATATGATCCAAAATTGCA	0.313000													11	62					0	0	0.00244969	0	0
HRG	3273	broad.mit.edu	37	3	186383975	186383975	+	Missense_Mutation	SNP	G	G	A	rs115116898	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:186383975G>A	ENST00000232003.4	+	1	235	c.155G>A	c.(154-156)cGg>cAg	p.R52Q		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	52	Cystatin 1.|Interaction with ATP5A1.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CAATTGCTGCGGATTGCTGAT	0.537000													16	74					0	0	0.000422831	0	0
NLRP12	91662	broad.mit.edu	37	19	54313965	54313965	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:54313965C>T	ENST00000324134.6	-	3	1116	c.948G>A	c.(946-948)gaG>gaA	p.E316E	NLRP12_ENST00000535162.1_Silent_p.E316E|NLRP12_ENST00000391775.3_Silent_p.E316E|NLRP12_ENST00000354278.3_Silent_p.E316E|NLRP12_ENST00000351894.4_Silent_p.E316E|NLRP12_ENST00000391773.1_Silent_p.E316E|NLRP12_ENST00000345770.5_Silent_p.E316E|NLRP12_ENST00000391772.1_Silent_p.E316E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	316	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGGGCCGTTTCTCCTCCCAGC	0.567000													8	39					0	0	0.000442599	0	0
ELF5	2001	broad.mit.edu	37	11	34502435	34502435	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:34502435C>T	ENST00000312319.2	-	6	814	c.585G>A	c.(583-585)tgG>tgA	p.W195*	ELF5_ENST00000257832.2_Nonsense_Mutation_p.W185*|ELF5_ENST00000429939.2_Nonsense_Mutation_p.W90*	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	195					cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				CCCTATCTTCCCATTCCAGAA	0.418000													9	69					0	0	0.000442599	0	0
CACNA1E	777	broad.mit.edu	37	1	181719617	181719617	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:181719617C>T	ENST00000526775.1	+	25	3833	c.3668C>T	c.(3667-3669)gCt>gTt	p.A1223V	CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A1242V|CACNA1E_ENST00000357570.5_Intron|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A1242V|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A1223V	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1242					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CATAGGAACGCTTTGGGGTAA	0.428000													12	45					0	0	0.000422831	0	0
SLC6A6	6533	broad.mit.edu	37	3	14487283	14487283	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:14487283C>T	ENST00000454876.2	+	4	617	c.288C>T	c.(286-288)ttC>ttT	p.F96F	SLC6A6_ENST00000416216.2_Silent_p.F96F|SLC6A6_ENST00000360861.3_Silent_p.F96F|SLC6A6_ENST00000484191.1_3'UTR			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	96					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CTGTGTTTTTCTTGGAGATCA	0.517000													9	76					0	0	0.00136819	0	0
NRAP	4892	broad.mit.edu	37	10	115413812	115413812	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:115413812T>C	ENST00000369358.4	-	5	677	c.433A>G	c.(433-435)Agg>Ggg	p.R145G	NRAP_ENST00000369360.3_Missense_Mutation_p.R145G|NRAP_ENST00000360478.3_Missense_Mutation_p.R145G|NRAP_ENST00000359988.3_Missense_Mutation_p.R145G			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	145						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCAACCATCCTTACAATTTCG	0.458000													22	164					0	0	0.000878237	0	0
ZNF816	125893	broad.mit.edu	37	19	53453516	53453516	+	Silent	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:53453516A>G	ENST00000357666.4	-	5	1812	c.1512T>C	c.(1510-1512)gcT>gcC	p.A504A	ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Silent_p.A504A	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GTTTCTCTCCAGCATGAAGTC	0.393000													10	82					0	0	0.000442599	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132487	91132487	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:91132487C>T	ENST00000373094.1	+	2	2093	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	PCDH11X_ENST00000395337.2_Silent_p.F416F|PCDH11X_ENST00000373088.1_Silent_p.F416F|PCDH11X_ENST00000373097.1_Silent_p.F416F|PCDH11X_ENST00000406881.1_Silent_p.F416F|PCDH11X_ENST00000361724.1_Silent_p.F416F|PCDH11X_ENST00000361655.2_Silent_p.F416F|PCDH11X_ENST00000504220.1_Silent_p.F416F|PCDH11X_ENST00000298274.8_Silent_p.F416F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	416	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTAATCAGTTCCTCCTGGAGA	0.438000													5	36					0	0	0.00116845	0	0
LTF	4057	broad.mit.edu	37	3	46487985	46487985	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:46487985C>T	ENST00000231751.4	-	11	1599		c.e11-1		LTF_ENST00000417439.1_Splice_Site|LTF_ENST00000426532.2_Splice_Site	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin						cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	TGTTGGGATTCTGAAAGAATA	0.413000													7	86					0	0	0.000274275	0	0
VIP	7432	broad.mit.edu	37	6	153073396	153073396	+	Silent	SNP	T	T	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:153073396T>G	ENST00000367244.3	+	2	256	c.84T>G	c.(82-84)ctT>ctG	p.L28L	VIP_ENST00000367243.3_Silent_p.L28L	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	28					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		CATGGCCTCTTTACAGGGCAC	0.453000													4	22					0	0	0.00024832	0	0
ITGA4	3676	broad.mit.edu	37	2	182359477	182359477	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:182359477C>T	ENST00000397033.2	+	12	1707	c.1277C>T	c.(1276-1278)tCg>tTg	p.S426L		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	426					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ATCAGCAAATCGTTAAGTATG	0.308000													8	72					0	0	0.000673444	0	0
TRIO	7204	broad.mit.edu	37	5	14387673	14387673	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:14387673C>T	ENST00000344204.4	+	22	3721	c.3697C>T	c.(3697-3699)Ctg>Ttg	p.L1233L	TRIO_ENST00000509967.2_Silent_p.L1184L|TRIO_ENST00000537187.1_Silent_p.L1233L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1233					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGATTTCTCTCTGCGGATGGA	0.433000													10	122					0	0	0.00185496	0	0
COL4A5	1287	broad.mit.edu	37	X	107865993	107865993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:107865993C>T	ENST00000328300.6	+	33	3099	c.2855C>T	c.(2854-2856)cCt>cTt	p.P952L	COL4A5_ENST00000361603.2_Missense_Mutation_p.P952L	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	952	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCAGGCCCTCCTGGACCAATG	0.473000									Alport syndrome with Diffuse Leiomyomatosis				13	29					0	0	0.00185496	0	0
CLEC4E	26253	broad.mit.edu	37	12	8692527	8692527	+	Silent	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:8692527A>G	ENST00000299663.3	-	2	219	c.54T>C	c.(52-54)tcT>tcC	p.S18S	CLEC4E_ENST00000446457.2_Silent_p.S18S|CLEC4E_ENST00000545274.1_Silent_p.S18S	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	18						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					ACATTTGGGAAGAGAAGCATC	0.408000													8	158					0	0	0.000274275	0	0
PFAS	5198	broad.mit.edu	37	17	8169593	8169593	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:8169593C>T	ENST00000314666.6	+	22	2876	c.2743C>T	c.(2743-2745)Ctc>Ttc	p.L915F	PFAS_ENST00000545834.1_Missense_Mutation_p.L491F	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	915					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGACGGAGGCCTCGTCACATG	0.602000													5	46					0	0	0.000602214	0	0
MMP13	4322	broad.mit.edu	37	11	102826123	102826123	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:102826123A>C	ENST00000260302.3	-	2	248	c.220T>G	c.(220-222)Ttc>Gtc	p.F74V	MMP13_ENST00000340273.4_Missense_Mutation_p.F74V	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	74			F -> S (in MANDP1).		collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		AAGCCGAAGAAAGACTGCATT	0.473000													6	81					0	0	0.00198382	0	0
TRIM54	57159	broad.mit.edu	37	2	27521556	27521556	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:27521556G>A	ENST00000296098.4	+	2	560	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	TRIM54_ENST00000380075.2_Missense_Mutation_p.R97Q	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	97					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding	p.R81Q(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTGCAGCGAAACCTGCTA	0.572000													6	29					0	0	0.000157383	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040636	147040636	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:147040636C>T	ENST00000265272.5	-	3	969	c.502G>A	c.(502-504)Gag>Aag	p.E168K	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E168K|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E126K	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	168						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGAGCCTCGTCCACCTGC	0.532000													13	170					0	0	0.000308642	0	0
C20orf26	26074	broad.mit.edu	37	20	20232362	20232362	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:20232362C>T	ENST00000245957.5	+	20	2359	c.2283C>T	c.(2281-2283)atC>atT	p.I761I	C20orf26_ENST00000389656.3_Silent_p.I117I|C20orf26_ENST00000377293.1_Silent_p.I117I|C20orf26_ENST00000377309.2_Silent_p.I117I	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	761										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CGGACGAGATCGTGCCCTACG	0.597000													11	46					0	0	0.000673444	0	0
MATN3	4148	broad.mit.edu	37	2	20205995	20205995	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:20205995G>A	ENST00000407540.3	-	2	362	c.300C>T	c.(298-300)acC>acT	p.T100T	MATN3_ENST00000421259.2_Silent_p.T100T	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	100	VWFA.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTCACTTTGGTGAATTCCA	0.502000													4	15					0	0	0.000602214	0	0
KLK6	5653	broad.mit.edu	37	19	51466790	51466790	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:51466790G>A	ENST00000424910.2	-	2	66	c.56C>T	c.(55-57)tCc>tTc	p.S19F	KLK6_ENST00000376853.4_Intron|KLK6_ENST00000391808.1_5'UTR|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000376851.3_Silent_p.F71F|KLK6_ENST00000310157.2_Silent_p.F71F|KLK6_ENST00000594641.1_Silent_p.F71F			Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	212					amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GCTTCCCCAGGAAGACCTGAA	0.577000													7	41					0	0	0.000442599	0	0
MUC16	94025	broad.mit.edu	37	19	9067716	9067716	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9067716G>A	ENST00000397910.4	-	3	19933	c.19730C>T	c.(19729-19731)tCa>tTa	p.S6577L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6579	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						AATGTCTTCTGAAGTAGTCGG	0.458000													8	69					0	0	0.000274275	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430974	37430974	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:37430974C>T	ENST00000374660.1	+	7	1080	c.981C>T	c.(979-981)atC>atT	p.I327I	ANKRD30A_ENST00000602533.1_Silent_p.I327I|ANKRD30A_ENST00000361713.1_Silent_p.I327I			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	383						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.I327I(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTAGGAAGATCGCATGGGAGA	0.433000													12	75					0	0	0.00185496	0	0
FAT2	2196	broad.mit.edu	37	5	150923884	150923884	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:150923884G>A	ENST00000261800.5	-	9	6816	c.6804C>T	c.(6802-6804)aaC>aaT	p.N2268N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2268	Cadherin 19.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGTGGGAGGGTTATCATTGA	0.502000													10	47					0	0	0.000673444	0	0
SAMD9	54809	broad.mit.edu	37	7	92734952	92734952	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:92734952C>T	ENST00000379958.2	-	3	728	c.459G>A	c.(457-459)agG>agA	p.R153R		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	153						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGGATGGTTGCCTTTCCTTTG	0.368000													23	75					0	0	0.00229938	0	0
LELP1	149018	broad.mit.edu	37	1	153177245	153177245	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:153177245C>T	ENST00000368747.1	+	2	172	c.62C>T	c.(61-63)cCc>cTc	p.P21L		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	21	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACTGCGATCCCAAGTGTGAA	0.443000													8	99					0	0	0.000673444	0	0
NUTM2F	54754	broad.mit.edu	37	9	97082597	97082597	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:97082597C>T	ENST00000335456.7	-	6	1236	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K	NUTM2F_ENST00000341207.4_Missense_Mutation_p.E406K|NUTM2F_ENST00000253262.4_Missense_Mutation_p.E421K					NUT family member 2F																		TTGCCCTTTTCCCGTTGTCCC	0.587000													10	43					0	0	0.000978159	0	0
FLT1	2321	broad.mit.edu	37	13	29008292	29008292	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:29008292G>A	ENST00000282397.4	-	5	830	c.579C>T	c.(577-579)atC>atT	p.I193I	FLT1_ENST00000541932.1_Silent_p.I193I|FLT1_ENST00000539099.1_Silent_p.I193I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	193	Ig-like C2-type 2.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CATTTGATATGATGAAGCCCT	0.408000													11	49					0	0	0.00136819	0	0
SUZ12	23512	broad.mit.edu	37	17	30302528	30302528	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:30302528C>T	ENST00000322652.5	+	7	848	c.619C>T	c.(619-621)Ccc>Tcc	p.P207S	SUZ12_ENST00000580398.1_Missense_Mutation_p.P184S	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	207					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				AAGGCAAGTTCCCACAGGTAA	0.338000			T	JAZF1	endometrial stromal tumours								9	52					0	0	0.000978159	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736304	140736304	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140736304A>C	ENST00000571252.1	+	1	1537	c.1537A>C	c.(1537-1539)Atc>Ctc	p.I513L	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATACAGGGATCCTATATGC	0.522000													16	100					0	0	0.000308642	0	0
MYOF	26509	broad.mit.edu	37	10	95069910	95069910	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:95069910G>A	ENST00000371501.4	-	53	6136	c.6014C>T	c.(6013-6015)tCc>tTc	p.S2005F	MYOF_ENST00000359263.4_Missense_Mutation_p.S2005F|MYOF_ENST00000371502.4_Missense_Mutation_p.S1995F|MYOF_ENST00000358334.5_Missense_Mutation_p.S1992F			Q9NZM1	MYOF_HUMAN	myoferlin	2005					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCAGAGGAAGGAGGTTTCTGG	0.473000													5	76					0	0	0.000602214	0	0
RNF123	63891	broad.mit.edu	37	3	49736246	49736246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:49736246C>T	ENST00000327697.6	+	9	773	c.629C>T	c.(628-630)tCc>tTc	p.S210F	RNF123_ENST00000432042.1_Missense_Mutation_p.S64F	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	210	B30.2/SPRY.					cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GGCACTCTGTCCTTCTGCCTG	0.627000													5	22					0	0	0.00116845	0	0
SERPINB13	5275	broad.mit.edu	37	18	61255990	61255990	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:61255990C>T	ENST00000344731.5	+	2	191	c.89C>T	c.(88-90)tCc>tTc	p.S30F	SERPINB13_ENST00000269489.5_Missense_Mutation_p.S30F	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	30					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						ATCTTCTTTTCCCCTGTGGGC	0.532000													7	39					0	0	0.000157383	0	0
OR9A4	130075	broad.mit.edu	37	7	141619083	141619083	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:141619083G>A	ENST00000548136.1	+	1	467	c.408G>A	c.(406-408)atG>atA	p.M136I	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					ACATCATTATGAACAGACACA	0.458000													18	159					0	0	0.00152264	0	0
ABCC1	4363	broad.mit.edu	37	16	16130356	16130356	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:16130356C>T	ENST00000399408.2	+	7	880	c.705C>T	c.(703-705)ccC>ccT	p.P235P	ABCC1_ENST00000351154.5_Silent_p.P235P|ABCC1_ENST00000345148.5_Silent_p.P235P|ABCC1_ENST00000346370.5_Silent_p.P235P|ABCC1_ENST00000399410.3_Silent_p.P235P|ABCC1_ENST00000349029.5_Silent_p.P235P			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	235					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ACCGCCAGCCCCTGGAGGGCA	0.567000													9	37					0	0	0.000274275	0	0
LIX1	167410	broad.mit.edu	37	5	96440917	96440917	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:96440917C>T	ENST00000274382.4	-	4	755	c.460G>A	c.(460-462)Ggg>Agg	p.G154R	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	154										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		ATAGTCTTCCCCATGTTTGAC	0.448000													7	56					0	0	0.00198382	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996309	19996309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:19996309C>T	ENST00000391403.2	-	1	1569	c.1466G>A	c.(1465-1467)gGt>gAt	p.G489D		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	489						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TGGTGAGGGACCATATGGGGA	0.413000													11	96					0	0	0.00244969	0	0
KIAA1377	57562	broad.mit.edu	37	11	101833039	101833039	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:101833039G>A	ENST00000263468.8	+	6	1543	c.1273G>A	c.(1273-1275)Gat>Aat	p.D425N	KIAA1377_ENST00000537689.1_Missense_Mutation_p.D226N	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	425							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AAGCACTTCAGATTCTCTAAC	0.383000													13	48					0	0	0.00136819	0	0
PCDH15	65217	broad.mit.edu	37	10	55591215	55591215	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:55591215G>A	ENST00000373965.2	-	31	4477	c.4083C>T	c.(4081-4083)atC>atT	p.I1361I	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000320301.6_Silent_p.I1354I|PCDH15_ENST00000361849.3_Silent_p.I1354I|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Silent_p.I1317I|PCDH15_ENST00000395438.1_Silent_p.I1354I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Silent_p.I1354I|PCDH15_ENST00000437009.1_Silent_p.I1283I|PCDH15_ENST00000395445.1_Silent_p.I1361I|PCDH15_ENST00000395433.1_Silent_p.I1332I|PCDH15_ENST00000409834.1_Silent_p.I965I|PCDH15_ENST00000414778.1_Silent_p.I1359I|PCDH15_ENST00000395440.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1354					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTGGAGTCCGGATCTCCAGAA	0.433000										HNSCC(58;0.16)			5	54					0	0	0.000602214	0	0
PLXNA1	5361	broad.mit.edu	37	3	126707643	126707643	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:126707643C>T	ENST00000393409.2	+	1	207	c.207C>T	c.(205-207)aaC>aaT	p.N69N	PLXNA1_ENST00000251772.4_Silent_p.N46N	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	69	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCGCAGTGAACCGCATCTATA	0.647000													5	33					0	0	0.00116845	0	0
SNTG2	54221	broad.mit.edu	37	2	1263176	1263176	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:1263176C>T	ENST00000308624.5	+	13	1169	c.1040C>T	c.(1039-1041)aCc>aTc	p.T347I	SNTG2_ENST00000407292.1_Missense_Mutation_p.T220I	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	347	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCAGAAAGGACCTATCACCTC	0.398000													6	94					0	0	0.00198382	0	0
XKR5	389610	broad.mit.edu	37	8	6679433	6679433	+	RNA	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:6679433G>A	ENST00000518724.1	-	0	915							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		GGCTGTCCCAGAAGCTGAGGT	0.522000													4	15					0	0	0.00024832	0	0
ZNF610	162963	broad.mit.edu	37	19	52869059	52869059	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:52869059G>A	ENST00000601151.1	+	5	751	c.299G>A	c.(298-300)aGg>aAg	p.R100K	ZNF610_ENST00000321287.8_Missense_Mutation_p.R143K|ZNF610_ENST00000403906.3_Missense_Mutation_p.R143K|ZNF610_ENST00000327920.8_Missense_Mutation_p.R143K	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		CAAGCCGGAAGGAAAATTTAC	0.358000													19	201					0	0	0.000958276	0	0
CACNA1E	777	broad.mit.edu	37	1	181725182	181725182	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:181725182G>A	ENST00000526775.1	+	28	4188	c.4023G>A	c.(4021-4023)tgG>tgA	p.W1341*	CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.W967*|CACNA1E_ENST00000367573.2_Nonsense_Mutation_p.W1360*|CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.W1311*|CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.W1292*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.W1360*|CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.W1341*	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1360					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACATTATCTGGGCCCTGCTGA	0.512000													5	17					0	0	0.000602214	0	0
ZNF234	10780	broad.mit.edu	37	19	44661953	44661953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:44661953C>T	ENST00000426739.2	+	6	2042	c.1784C>T	c.(1783-1785)cCc>cTc	p.P595L	ZNF234_ENST00000592437.1_Missense_Mutation_p.P595L	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	595					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GGAGAAAAACCCTATACATGT	0.483000													6	64					0	0	0.00116845	0	0
ITIH1	3697	broad.mit.edu	37	3	52816987	52816987	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:52816987C>T	ENST00000273283.2	+	9	969	c.945C>T	c.(943-945)ctC>ctT	p.L315L	ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000542827.1_Silent_p.L315L|ITIH1_ENST00000540715.1_Silent_p.L173L|ITIH1_ENST00000537050.1_Silent_p.L27L	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	315	VWFA.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		AGGAGGCACTCCTTAAAATTC	0.542000													7	66					0	0	0.000274275	0	0
KCNH6	81033	broad.mit.edu	37	17	61622526	61622526	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:61622526G>A	ENST00000583023.1	+	13	2603	c.2592G>A	c.(2590-2592)ctG>ctA	p.L864L	KCNH6_ENST00000581784.1_Silent_p.L775L|KCNH6_ENST00000314672.5_Silent_p.L828L|KCNH6_ENST00000456941.2_Silent_p.L775L	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	864					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GCTACATTCTGGAAGCCCCTG	0.642000													8	49					0	0	0.000274275	0	0
HAVCR2	84868	broad.mit.edu	37	5	156533856	156533856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:156533856G>A	ENST00000307851.4	-	2	906	c.176C>T	c.(175-177)cCt>cTt	p.P59L	HAVCR2_ENST00000517358.1_5'UTR|CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_Missense_Mutation_p.P59L	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	59	Ig-like V-type.					integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCAAACACAGGACAGGCTCC	0.547000													59	314					0	0	0.000781405	0	0
PDZD2	23037	broad.mit.edu	37	5	32061118	32061118	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:32061118C>T	ENST00000438447.1	+	14	2717	c.2329C>T	c.(2329-2331)Caa>Taa	p.Q777*	PDZD2_ENST00000282493.3_Nonsense_Mutation_p.Q777*			O15018	PDZD2_HUMAN	PDZ domain containing 2	777	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCGCGGGGATCAAATCCTGGA	0.498000													5	46					0	0	0.000157383	0	0
FAM161A	84140	broad.mit.edu	37	2	62067638	62067638	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:62067638G>A	ENST00000404929.1	-	3	512	c.501C>T	c.(499-501)tcC>tcT	p.S167S	FAM161A_ENST00000405894.3_Silent_p.S167S	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	167				S -> F (in Ref. 3; BAB14544).	response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CATACAAGGAGGAAGACTGGC	0.398000													10	88					0	0	0.000673444	0	0
ANKEF1	63926	broad.mit.edu	37	20	10025082	10025082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:10025082G>A	ENST00000378380.3	+	4	916	c.587G>A	c.(586-588)gGg>gAg	p.G196E	SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.G196E	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		TCAAGAGAAGGGGTAGTGGAA	0.448000													22	124					0	0	0.00047179	0	0
OR10H4	126541	broad.mit.edu	37	19	16060184	16060184	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:16060184C>T	ENST00000322107.1	+	1	367	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GGGCTATGATCGCTATGTGGC	0.537000													16	79					0	0	0.000566183	0	0
TRPC5	7224	broad.mit.edu	37	X	111097061	111097061	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:111097061C>T	ENST00000262839.2	-	4	2092	c.1174G>A	c.(1174-1176)Gac>Aac	p.D392N		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	392					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACATGAAGGTCTGTCCTGACA	0.488000													14	32					0	0	0.000566183	0	0
LRRC17	10234	broad.mit.edu	37	7	102574604	102574604	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:102574604G>A	ENST00000249377.4	+	2	525	c.244G>A	c.(244-246)Gat>Aat	p.D82N	FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000393772.2_Intron|LRRC17_ENST00000339431.4_Missense_Mutation_p.D82N|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000436908.1_Intron	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	82					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TTGGCCTCAGGATTTGCTGCA	0.438000													16	65					0	0	0.00074312	0	0
BST2	684	broad.mit.edu	37	19	17516154	17516154	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:17516154G>A	ENST00000252593.6	-	1	303	c.231C>T	c.(229-231)gcC>gcT	p.A77A	BST2_ENST00000527220.1_5'UTR	NM_004335.2	NP_004326.1	Q10589	BST2_HUMAN	bone marrow stromal cell antigen 2	77					B cell activation|cell proliferation|cell-cell signaling|defense response to virus|humoral immune response|innate immune response|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade	anchored to membrane|Golgi apparatus|integral to plasma membrane|late endosome	protein homodimerization activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2)	9						AGCCCTTCTGGGCCTCGGTCA	0.607000													4	34					0	0	0.000602214	0	0
NLRP5	126206	broad.mit.edu	37	19	56545069	56545069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:56545069C>T	ENST00000390649.3	+	9	2609	c.2609C>T	c.(2608-2610)tCt>tTt	p.S870F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	870						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTGTTGGAGTCTTTGAGGTAC	0.413000													17	270					0	0	0.00152264	0	0
OR52N5	390075	broad.mit.edu	37	11	5799749	5799749	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:5799749A>T	ENST00000317093.2	-	1	148	c.116T>A	c.(115-117)cTc>cAc	p.L39H	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CATTGTGCAGAGTGGGAGGGA	0.398000													7	83					0	0	0.000274275	0	0
UGT3A1	133688	broad.mit.edu	37	5	35968221	35968221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:35968221C>T	ENST00000274278.3	-	3	568	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	UGT3A1_ENST00000333811.4_Missense_Mutation_p.E17K|UGT3A1_ENST00000503189.1_Missense_Mutation_p.E71K|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Missense_Mutation_p.E37K	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	71						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TATGATTTTTCCTCCTCTTTA	0.299000													6	56					0	0	0.00116845	0	0
TMEM214	54867	broad.mit.edu	37	2	27262685	27262685	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:27262685C>T	ENST00000238788.9	+	14	1664	c.1602C>T	c.(1600-1602)tcC>tcT	p.S534S	TMEM214_ENST00000404032.3_Silent_p.S489S	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	534						integral to membrane	protein binding	p.S534S(1)		kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						AGCTCTACTCCTACAGTCTGC	0.587000													10	101					0	0	0.000673444	0	0
CYYR1	116159	broad.mit.edu	37	21	27852613	27852613	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:27852613G>A	ENST00000299340.4	-	3	655	c.312C>T	c.(310-312)atC>atT	p.I104I	AP001597.1_ENST00000414486.1_RNA|AP001597.1_ENST00000357401.3_RNA|CYYR1_ENST00000435845.2_3'UTR|CYYR1_ENST00000400043.3_Silent_p.I104I	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	104						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						AGACGGTGTTGATGTGAGTCG	0.502000													7	48					0	0	0.000274275	0	0
WBSCR17	64409	broad.mit.edu	37	7	70800610	70800610	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:70800610C>A	ENST00000333538.5	+	2	947	c.313C>A	c.(313-315)Ccg>Acg	p.P105T	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	105						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TACTCTTTCCCCGGCTGAAGA	0.473000													5	49					0.00116845	0.00505107	0.00116845	1	0
ZNF334	55713	broad.mit.edu	37	20	45131398	45131398	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:45131398C>T	ENST00000457685.2	-	6	1789	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	ZNF334_ENST00000347606.4_Missense_Mutation_p.E194K|ZNF334_ENST00000593880.1_Missense_Mutation_p.E217K			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	194					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)				ATAAGATTTTCGTTTTGATTG	0.363000													8	110					0	0	0.000442599	0	0
LCE1E	353135	broad.mit.edu	37	1	152759921	152759921	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:152759921G>A	ENST00000368770.3	+	2	199	c.146G>A	c.(145-147)gGa>gAa	p.G49E	LCE1E_ENST00000368771.1_Missense_Mutation_p.G49E	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	49	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCAGCTCCGGAGGCTGCTGT	0.657000													16	44					0	0	0.00047179	0	0
MCOLN2	255231	broad.mit.edu	37	1	85406603	85406603	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:85406603G>A	ENST00000370608.3	-	8	986	c.919C>T	c.(919-921)Ctg>Ttg	p.L307L	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Silent_p.L279L	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	307						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CTTGTACACAGAATAAGAGAT	0.428000													8	24					0	0	0.000274275	0	0
PKHD1	5314	broad.mit.edu	37	6	51512847	51512847	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:51512847A>C	ENST00000371117.3	-	63	11655	c.11380T>G	c.(11380-11382)Tca>Gca	p.S3794A		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3794					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACTGAGTCTGATGCTCCTTCC	0.428000													14	99					0	0	0.000308642	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140773107	140773107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140773107C>T	ENST00000398604.2	+	1	727	c.727C>T	c.(727-729)Cct>Tct	p.P243S	PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGGTTTTTCCTCACCCGAT	0.577000													6	100					0	0	0.00116845	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881444	142881444	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:142881444G>A	ENST00000446620.1	+	1	933	c.933G>A	c.(931-933)ctG>ctA	p.L311L		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	311					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					CAATTCTACTGATTCAAGATA	0.473000													5	17					0	0	0.00198382	0	0
PSG1	5669	broad.mit.edu	37	19	43376039	43376039	+	Missense_Mutation	SNP	C	C	T	rs1058692		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:43376039C>T	ENST00000244296.2	-	3	726	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	PSG1_ENST00000595356.1_Missense_Mutation_p.E197K|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000436291.2_Missense_Mutation_p.E197K|PSG1_ENST00000403380.3_Intron|PSG1_ENST00000312439.6_Missense_Mutation_p.E197K	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				CTGTTGGTTTCGGACAGCTTC	0.527000													16	200					0	0	0.000422831	0	0
DPY19L4	286148	broad.mit.edu	37	8	95782759	95782759	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:95782759C>A	ENST00000414645.2	+	13	1513	c.1414C>A	c.(1414-1416)Cac>Aac	p.H472N		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	472						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TCATGTAATTCACACTATTTT	0.348000													10	445					0.000442599	0.00192269	0.000442599	1	0
NEUROD6	63974	broad.mit.edu	37	7	31378687	31378687	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:31378687C>T	ENST00000297142.3	-	2	518	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	66					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						tcttcctcttccctgtcttcc	0.468000													14	72					0	0	0.00185496	0	0
PFKL	5211	broad.mit.edu	37	21	45739290	45739290	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:45739290C>T	ENST00000403390.1	+	12	1260	c.1260C>T	c.(1258-1260)ctC>ctT	p.L420L	PFKL_ENST00000349048.4_Silent_p.L373L			P17858	K6PL_HUMAN	phosphofructokinase, liver	373					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CCACCCAGCTCCGTGGTGGGT	0.592000													5	70					0	0	0.000602214	0	0
SLC28A2	9153	broad.mit.edu	37	15	45554283	45554283	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:45554283C>T	ENST00000347644.3	+	4	306	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	81					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		CAAGAAGATCCTGTTGGGCCT	0.413000													7	102					0	0	0.000157383	0	0
WDR33	55339	broad.mit.edu	37	2	128471199	128471199	+	Missense_Mutation	SNP	C	C	A	rs34080906		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:128471199C>A	ENST00000322313.4	-	18	3424	c.3266G>T	c.(3265-3267)cGg>cTg	p.R1089L		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1089					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTCGGGATCCCGGGGGAAACG	0.617000													7	124					0.000442599	0.00192269	0.000442599	1	0
USH2A	7399	broad.mit.edu	37	1	215901467	215901467	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:215901467G>A	ENST00000366943.2	-	61	12357	c.11971C>T	c.(11971-11973)Ccc>Tcc	p.P3991S	USH2A_ENST00000307340.3_Missense_Mutation_p.P3991S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3991	Fibronectin type-III 25.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGCCATTGGGAGATTCTGGC	0.488000										HNSCC(13;0.011)			10	57					0	0	0.000442599	0	0
LRIT2	340745	broad.mit.edu	37	10	85981738	85981738	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:85981738C>T	ENST00000372113.4	-	3	1596	c.1591G>A	c.(1591-1593)Ggt>Agt	p.G531S	LRIT2_ENST00000538192.1_Missense_Mutation_p.G541S	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	531						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TGCCCTTCACCGTCATCACAG	0.587000													7	91					0	0	0.000673444	0	0
HBG2	3048	broad.mit.edu	37	11	5274582	5274582	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:5274582G>A	ENST00000380259.2	-	8	1609	c.369C>T	c.(367-369)ttC>ttT	p.F123F	HBG2_ENST00000336906.4_Silent_p.F123F|HBG2_ENST00000380252.1_Silent_p.F113F					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCAGGGGTGAATTCTTTGC	0.517000													6	46					0	0	0.000157383	0	0
FUT9	10690	broad.mit.edu	37	6	96651274	96651274	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:96651274C>T	ENST00000302103.5	+	3	569	c.243C>T	c.(241-243)tcC>tcT	p.S81S		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	81					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ACCTTACATCCTGCCAAGCAA	0.423000													9	46					0	0	0.000978159	0	0
ARRDC4	91947	broad.mit.edu	37	15	98511249	98511249	+	Silent	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:98511249T>C	ENST00000268042.6	+	4	692	c.528T>C	c.(526-528)ccT>ccC	p.P176P	ARRDC4_ENST00000538249.1_Silent_p.P89P	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	176					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TCAAGACCCCTGTATTGAAAA	0.348000													12	70					0	0	0.000566183	0	0
SNX20	124460	broad.mit.edu	37	16	50707426	50707426	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:50707426C>T	ENST00000330943.4	-	4	1013	c.842G>A	c.(841-843)gGc>gAc	p.G281D	SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	281					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GAAGTCCTTGCCCAGCGCGTA	0.687000													7	23					0	0	0.00198382	0	0
ALG1	56052	broad.mit.edu	37	16	5128005	5128005	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:5128005C>T	ENST00000588623.1	+	7	1494	c.394C>T	c.(394-396)Ccg>Tcg	p.P132S	ALG1_ENST00000544428.1_Missense_Mutation_p.P132S|ALG1_ENST00000262374.5_Missense_Mutation_p.P243S			Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	243					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				CATGCACTCTCCGTTCAGGGC	0.612000													10	38					0	0	0.00185496	0	0
SP110	3431	broad.mit.edu	37	2	231036431	231036431	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:231036431A>G	ENST00000258381.6	-	17	1945	c.1868T>C	c.(1867-1869)tTt>tCt	p.F623S	SP110_ENST00000358662.4_Intron	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	605	Bromo.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		GATGCCCGTAAAAAAGGAGCT	0.428000													4	73					0	0	0.000602214	0	0
OR10A2	341276	broad.mit.edu	37	11	6891635	6891635	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:6891635C>T	ENST00000307322.4	+	1	712	c.650C>T	c.(649-651)tCa>tTa	p.S217L		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AAGATCCCATCAGCTAAAGGG	0.453000													14	171					0	0	0.00121646	0	0
THOC6	79228	broad.mit.edu	37	16	3077242	3077242	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:3077242C>T	ENST00000326266.8	+	11	1067	c.771C>T	c.(769-771)atC>atT	p.I257I	THOC6_ENST00000575576.1_Silent_p.I233I|THOC6_ENST00000574549.1_Silent_p.I233I|THOC6_ENST00000253952.9_Silent_p.I257I	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	257					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						TCTTCCCCATCCGGGCGCCAC	0.637000													6	42					0	0	0.000157383	0	0
CDH7	1005	broad.mit.edu	37	18	63548017	63548017	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:63548017G>A	ENST00000397968.2	+	12	2671	c.2245G>A	c.(2245-2247)Gat>Aat	p.D749N	CDH7_ENST00000323011.3_Missense_Mutation_p.D749N	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	749					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D749N(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CAGCTCTTTAGATTCCATCAG	0.473000													11	53					0	0	0.00185496	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102463512	102463512	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:102463512G>A	ENST00000360184.4	+	16	3869	c.3705G>A	c.(3703-3705)caG>caA	p.Q1235Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1235	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTCAGCAGCAGGTGGCAAACC	0.557000													7	52					0	0	0.000157383	0	0
VRK3	51231	broad.mit.edu	37	19	50498464	50498464	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:50498464G>A	ENST00000599538.1	-	8	1412	c.748C>T	c.(748-750)Cac>Tac	p.H250Y	VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000316763.3_Missense_Mutation_p.H250Y|VRK3_ENST00000601912.1_Missense_Mutation_p.H200Y|VRK3_ENST00000377011.2_Missense_Mutation_p.H200Y|VRK3_ENST00000601341.1_Missense_Mutation_p.H200Y|VRK3_ENST00000593919.1_Missense_Mutation_p.H250Y|VRK3_ENST00000594948.1_Missense_Mutation_p.H250Y|VRK3_ENST00000594092.1_Missense_Mutation_p.H250Y|VRK3_ENST00000443401.2_Intron			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	250	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TTGTCCTGGTGAACACCGAAA	0.567000													11	41					0	0	0.00185496	0	0
ZNF681	148213	broad.mit.edu	37	19	23938318	23938318	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:23938318G>A	ENST00000402377.3	-	2	180	c.39C>T	c.(37-39)ttC>ttT	p.F13F	ZNF681_ENST00000395385.3_Intron	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	13	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CCTCCAGAGAGAATTCTATGG	0.418000													7	78					0	0	0.000157383	0	0
PRR5L	79899	broad.mit.edu	37	11	36422691	36422691	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:36422691C>T	ENST00000378867.3	+	3	375	c.20C>T	c.(19-21)cCc>cTc	p.P7L	PRR5L_ENST00000311599.5_5'UTR|PRR5L_ENST00000527487.1_Missense_Mutation_p.P7L|PRR5L_ENST00000530639.1_Missense_Mutation_p.P7L|PRR5L_ENST00000389693.3_Intron	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	7										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GGCTTCGCTCCCATTCTGCCC	0.612000													5	30					0	0	0.00116845	0	0
MAP1A	4130	broad.mit.edu	37	15	43820287	43820287	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:43820287C>T	ENST00000382031.1	+	5	7361	c.7330C>T	c.(7330-7332)Cca>Tca	p.P2444S	MAP1A_ENST00000399453.1_Missense_Mutation_p.P2206S|MAP1A_ENST00000300231.5_Missense_Mutation_p.P2206S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2206						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGCTCTGGCTCCAGGACCCCC	0.642000													14	73					0	0	0.00185496	0	0
MID2	11043	broad.mit.edu	37	X	107084245	107084245	+	Missense_Mutation	SNP	C	C	T	rs35716955		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:107084245C>T	ENST00000262843.6	+	2	898	c.350C>T	c.(349-351)cCt>cTt	p.P117L	MID2_ENST00000443968.2_Missense_Mutation_p.P117L	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	117						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CCCAATTCCCCTAGTGAGAGC	0.567000													9	16					0	0	0.000274275	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156643314	156643314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:156643314G>A	ENST00000296518.7	+	9	2050	c.1841G>A	c.(1840-1842)cGa>cAa	p.R614Q	GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R614Q|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R614Q|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R614Q|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R614Q|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.R356Q|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R614Q			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	614					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AGTGTACCACGAAAAATCAAT	0.378000													5	52					0	0	0.00116845	0	0
OR2T11	127077	broad.mit.edu	37	1	248790161	248790161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:248790161G>A	ENST00000330803.2	-	1	330	c.269C>T	c.(268-270)tCc>tTc	p.S90F		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCCACAAAGGAAATGATCTT	0.493000													5	19					0	0	0.000602214	0	0
MID2	11043	broad.mit.edu	37	X	107169345	107169345	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:107169345C>T	ENST00000262843.6	+	9	2167	c.1619C>T	c.(1618-1620)cCc>cTc	p.P540L	MID2_ENST00000443968.2_Missense_Mutation_p.P510L|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	540	B30.2/SPRY.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						AAATTGGATCCCAAAATGACT	0.373000													8	34					0	0	0.000673444	0	0
UGT1A3	54659	broad.mit.edu	37	2	234638355	234638355	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:234638355C>T	ENST00000482026.1	+	1	602	c.583C>T	c.(583-585)Cct>Tct	p.P195S	UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron	NM_019093.2	NP_061966.1														breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CTCCTATATTCCTAGATTACT	0.428000													10	142					0	0	0.000978159	0	0
SLC2A12	154091	broad.mit.edu	37	6	134350155	134350155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:134350155G>A	ENST00000275230.5	-	2	963	c.808C>T	c.(808-810)Cgt>Tgt	p.R270C		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	270						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TCTTTTGAACGAAACAGATCC	0.388000													7	75					0	0	0.00198382	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762066	130762066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:130762066G>A	ENST00000392429.1	+	2	2877	c.499G>A	c.(499-501)Gtc>Atc	p.V167I	TMEM200A_ENST00000545622.1_Missense_Mutation_p.V167I|TMEM200A_ENST00000296978.3_Missense_Mutation_p.V167I	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	167						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CTATTCCACAGTCATTGACAT	0.408000													9	41					0	0	0.000673444	0	0
FUT8	2530	broad.mit.edu	37	14	66028393	66028393	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:66028393C>T	ENST00000360689.5	+	3	1839	c.112C>T	c.(112-114)Cac>Tac	p.H38Y	FUT8_ENST00000394585.1_Missense_Mutation_p.H38Y|FUT8_ENST00000394586.2_Missense_Mutation_p.H38Y|FUT8_ENST00000557164.1_Intron|FUT8_ENST00000358307.2_Intron	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	38					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CCATCCTGATCACTCTAGCCG	0.473000													6	44					0	0	0.00198382	0	0
MGAM	8972	broad.mit.edu	37	7	141797419	141797419	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:141797419C>T	ENST00000475668.2	+	66	7773	c.7719C>T	c.(7717-7719)ttC>ttT	p.F2573F	MGAM_ENST00000549489.2_Silent_p.F1677F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1677					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGCATATTTCCCTAGAGCCC	0.393000													12	48					0	0	0.00244969	0	0
TECRL	253017	broad.mit.edu	37	4	65194254	65194254	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:65194254G>A	ENST00000381210.3	-	3	417	c.307C>T	c.(307-309)Cga>Tga	p.R103*	TECRL_ENST00000507440.1_Nonsense_Mutation_p.R103*	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	103					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AGACCAACTCGAGAAGGGTAC	0.323000													9	76					0	0	0.000673444	0	0
CHD6	84181	broad.mit.edu	37	20	40126089	40126089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:40126089G>A	ENST00000373233.3	-	8	1204	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	CHD6_ENST00000309279.7_Missense_Mutation_p.R343C|CHD6_ENST00000373222.3_3'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	343	Chromo 1.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGTGCGATGCGAGGATCCTTT	0.413000													11	71					0	0	0.00136819	0	0
DISP2	85455	broad.mit.edu	37	15	40655956	40655956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:40655956C>T	ENST00000267889.3	+	2	337	c.250C>T	c.(250-252)Cca>Tca	p.P84S		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	84					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GCCTGTGGGTCCATCCAGCCC	0.647000													5	32					0	0	0.000602214	0	0
PTPRN2	5799	broad.mit.edu	37	7	157997862	157997862	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:157997862C>T	ENST00000389413.3	-	4	484		c.e4+1		PTPRN2_ENST00000389416.4_Splice_Site|PTPRN2_ENST00000389418.4_Splice_Site|PTPRN2_ENST00000409483.1_Splice_Site|PTPRN2_ENST00000404321.2_Splice_Site	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2							integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCCACACTTACCTGGCTGGGC	0.483000													12	61					0	0	0.00136819	0	0
TPRN	286262	broad.mit.edu	37	9	140086682	140086682	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:140086682C>G	ENST00000321773.2	-	3	1918	c.1919G>C	c.(1918-1920)gGg>gCg	p.G640A	TPRN_ENST00000409012.4_Intron			Q4KMQ1	TPRN_HUMAN	taperin	691					sensory perception of sound	stereocilium				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						GTCAGACTCCCCCCAGCGCTC	0.662000													3	37					0	0	0.00024832	0	0
MYLK	4638	broad.mit.edu	37	3	123345668	123345668	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:123345668C>T	ENST00000360772.3	-	31	5460	c.5082G>A	c.(5080-5082)tgG>tgA	p.W1694*	MYLK_ENST00000346322.5_Nonsense_Mutation_p.W1676*|MYLK_ENST00000354792.5_Nonsense_Mutation_p.W545*|MYLK-AS1_ENST00000463408.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000475616.1_Nonsense_Mutation_p.W1745*|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000359169.1_Nonsense_Mutation_p.W1694*|MYLK_ENST00000360304.3_Nonsense_Mutation_p.W1745*			Q15746	MYLK_HUMAN	myosin light chain kinase	1745	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCATTACCTGCCATTTCCTTC	0.483000													9	89					0	0	0.000673444	0	0
OR7C1	26664	broad.mit.edu	37	19	14910907	14910907	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:14910907G>A	ENST00000248073.2	-	1	116	c.42C>T	c.(40-42)ctC>ctT	p.L14L	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	14					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						AAAATCCCAGGAGGAGAAATT	0.443000													8	135					0	0	0.000157383	0	0
COL5A1	1289	broad.mit.edu	37	9	137717680	137717680	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:137717680C>T	ENST00000371817.3	+	63	5411	c.4997C>T	c.(4996-4998)tCc>tTc	p.S1666F		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1666	Fibrillar collagen NC1.				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)		TCCAGGGATTCCTTCAAGGTT	0.567000													5	46					0	0	0.00198382	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443628	5443628	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:5443628C>T	ENST00000300778.4	+	1	288	c.198C>T	c.(196-198)tcC>tcT	p.S66S	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTTTCTCTCCATGCTGGCCC	0.542000													16	63					0	0	0.000566183	0	0
OR6A2	8590	broad.mit.edu	37	11	6816382	6816382	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:6816382G>A	ENST00000332601.3	-	1	746	c.558C>T	c.(556-558)gtC>gtT	p.V186V		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCAATGGAGAGACATCACAGA	0.458000													7	85					0	0	0.000157383	0	0
COL28A1	340267	broad.mit.edu	37	7	7491972	7491972	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:7491972C>T	ENST00000399429.3	-	18	1627	c.1487G>A	c.(1486-1488)gGa>gAa	p.G496E		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	496					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TACTCCAATTCCCACTGGTCC	0.398000													9	73					0	0	0.00185496	0	0
COL4A1	1282	broad.mit.edu	37	13	110822999	110822999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:110822999C>T	ENST00000375820.4	-	42	3758	c.3637G>A	c.(3637-3639)Ggt>Agt	p.G1213S		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1213	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCCGGAGGACCCATGAATCCT	0.617000													7	17					0	0	0.000157383	0	0
CLGN	1047	broad.mit.edu	37	4	141323145	141323145	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:141323145C>T	ENST00000325617.5	-	6	935	c.495G>A	c.(493-495)ttG>ttA	p.L165L	CLGN_ENST00000537281.1_Silent_p.L165L|CLGN_ENST00000414773.1_Silent_p.L165L	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	165					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					ATACCAGAATCAAATCATCAG	0.274000													26	109					0	0	0.00178596	0	0
ZBTB16	7704	broad.mit.edu	37	11	114121132	114121132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:114121132G>A	ENST00000335953.4	+	7	2257	c.1877G>A	c.(1876-1878)gGc>gAc	p.G626D	ZBTB16_ENST00000392996.2_Missense_Mutation_p.G626D|RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000535379.1_3'UTR	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	626					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		ACGCACAACGGCGCCTCGCCC	0.627000													9	53					0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179621485	179621485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:179621485C>T	ENST00000589042.1	-	46	10942	c.10718G>A	c.(10717-10719)aGa>aAa	p.R3573K	TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.R3402K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3257	Ig-like 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCGGACTCTCTTACATCTTT	0.393000													5	42					0	0	0.00198382	0	0
GPR98	84059	broad.mit.edu	37	5	90012354	90012354	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:90012354C>T	ENST00000405460.2	+	43	9351	c.9255C>T	c.(9253-9255)ttC>ttT	p.F3085F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3085					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGCACTTTTTCCTAAGAGAGC	0.408000													5	48					0	0	0.000602214	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503929	140503929	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140503929G>A	ENST00000194152.1	+	1	2349	c.2349G>A	c.(2347-2349)aaG>aaA	p.K783K		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		783					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGAAGTTAAGGAAAACCCCA	0.448000													6	60					0	0	0.000157383	0	0
DNAH7	56171	broad.mit.edu	37	2	196799407	196799407	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:196799407G>A	ENST00000312428.6	-	21	3479	c.3379C>T	c.(3379-3381)Ctc>Ttc	p.L1127F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1127	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCTCTATGAGTTCTACAACC	0.403000													15	117					0	0	0.000422831	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473546	53473546	+	RNA	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:53473546C>T	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TTTTTTCTCTCCTAAATGGAT	0.358000													13	41					0	0	0.00136819	0	0
INO80	54617	broad.mit.edu	37	15	41341560	41341560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:41341560G>A	ENST00000361937.3	-	21	2925	c.2501C>T	c.(2500-2502)tCc>tTc	p.S834F	INO80_ENST00000401393.3_Missense_Mutation_p.S834F			Q9ULG1	INO80_HUMAN	INO80 complex subunit	834	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGGCTTTAGGGAAATATGAAA	0.403000													10	71					0	0	0.000442599	0	0
GRIK2	2898	broad.mit.edu	37	6	102069868	102069868	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:102069868G>A	ENST00000369138.1	+	2	650	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	GRIK2_ENST00000369134.4_Missense_Mutation_p.E5K|GRIK2_ENST00000358361.3_Missense_Mutation_p.E54K|GRIK2_ENST00000421544.1_Missense_Mutation_p.E54K|GRIK2_ENST00000318991.6_Missense_Mutation_p.E54K|GRIK2_ENST00000369137.3_Missense_Mutation_p.E54K|GRIK2_ENST00000413795.1_Missense_Mutation_p.E54K	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	54					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.E54K(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GGGAGCTGAGGAACTTGCATT	0.348000													4	33					0	0	0.000602214	0	0
RYR2	6262	broad.mit.edu	37	1	237801733	237801733	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:237801733G>A	ENST00000366574.2	+	45	7186	c.6869G>A	c.(6868-6870)tGg>tAg	p.W2290*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.W2274*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.W2288*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2290	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACATTGGGTGGAACCCAGTT	0.408000													10	176					0	0	0.00136819	0	0
RSPO4	343637	broad.mit.edu	37	20	944609	944609	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:944609C>T	ENST00000217260.4	-	4	660	c.564G>A	c.(562-564)agG>agA	p.R188R	RSPO4_ENST00000400634.2_Intron	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	188	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						TGGGACATTTCCTTGACTCAG	0.667000													7	64					0	0	0.00198382	0	0
SPHKAP	80309	broad.mit.edu	37	2	228855998	228855998	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:228855998C>T	ENST00000392056.3	-	10	4812	c.4766G>A	c.(4765-4767)aGc>aAc	p.S1589N	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1560N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1589						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACCCTCTGTGCTTTCTGACTG	0.408000													9	99					0	0	0.000442599	0	0
ATG7	10533	broad.mit.edu	37	3	11406164	11406164	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:11406164C>T	ENST00000354449.3	+	16	1856	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W	ATG7_ENST00000446450.2_Missense_Mutation_p.R572W|ATG7_ENST00000354956.5_Missense_Mutation_p.R611W	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	611					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CAGTGACGATCGGATGAATGA	0.488000													15	115					0	0	0.000958276	0	0
ZNF577	84765	broad.mit.edu	37	19	52376117	52376117	+	Missense_Mutation	SNP	G	G	A	rs140596477		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:52376117G>A	ENST00000420592.1	-	6	2282	c.949C>T	c.(949-951)Cac>Tac	p.H317Y	ZNF577_ENST00000451628.2_Missense_Mutation_p.H317Y|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000301399.5_Missense_Mutation_p.H376Y			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCTCTTATGTGAGTTTTCTCA	0.443000													11	115					0	0	0.000978159	0	0
CCDC141	285025	broad.mit.edu	37	2	179733925	179733925	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:179733925G>A	ENST00000420890.2	-	15	2430	c.2313C>T	c.(2311-2313)ttC>ttT	p.F771F	CCDC141_ENST00000295723.5_Silent_p.F196F	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	196							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GTTTTTGATGGAAGTGAATAA	0.423000													14	90					0	0	0.00244969	0	0
TDRD1	56165	broad.mit.edu	37	10	115963905	115963905	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:115963905G>A	ENST00000251864.2	+	9	1208	c.1055G>A	c.(1054-1056)gGa>gAa	p.G352E	TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369281.2_Missense_Mutation_p.G352E|TDRD1_ENST00000369282.1_Missense_Mutation_p.G352E|TDRD1_ENST00000369280.1_Missense_Mutation_p.G352E	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	352	Tudor 1.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ATTGATTATGGAAATGAAGAA	0.338000													10	74					0	0	0.000978159	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140772815	140772815	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140772815C>T	ENST00000398604.2	+	1	435	c.435C>T	c.(433-435)atC>atT	p.I145I	PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAACGAAATCGCGGTTCCTG	0.438000													9	62					0	0	0.000442599	0	0
OR8B12	219858	broad.mit.edu	37	11	124413290	124413290	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:124413290C>T	ENST00000306842.2	-	1	285	c.261G>A	c.(259-261)agG>agA	p.R87R		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TGATGTTCTTCCTTGAGACAA	0.433000													10	35					0	0	0.000673444	0	0
TRIM60	166655	broad.mit.edu	37	4	165961679	165961679	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:165961679G>A	ENST00000512596.1	+	3	671	c.455G>A	c.(454-456)aGg>aAg	p.R152K	TRIM60_ENST00000508504.1_Missense_Mutation_p.R152K|TRIM60_ENST00000341062.5_Missense_Mutation_p.R152K	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	152						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GAGCCCTTGAGGAATAATATA	0.383000													6	55					0	0	0.00198382	0	0
TRBV6-4	28603	broad.mit.edu	37	7	142250851	142250851	+	RNA	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:142250851G>A	ENST00000390360.3	-	0	216																											TTTGAATAATGGATGAGCCTT	0.488000													7	42					0	0	0.00198382	0	0
OR1A2	26189	broad.mit.edu	37	17	3101680	3101680	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:3101680C>T	ENST00000381951.1	+	1	868	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						CATCTATAGTCTGAGAAATTG	0.453000													11	87					0	0	0.000308642	0	0
PTPRT	11122	broad.mit.edu	37	20	40980835	40980835	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:40980835G>A	ENST00000373198.3	-	10	1886	c.1651C>T	c.(1651-1653)Cac>Tac	p.H551Y	PTPRT_ENST00000373184.1_Missense_Mutation_p.H551Y|PTPRT_ENST00000373187.1_Missense_Mutation_p.H551Y|PTPRT_ENST00000373190.1_Missense_Mutation_p.H551Y|PTPRT_ENST00000373193.3_Missense_Mutation_p.H551Y|PTPRT_ENST00000373201.1_Missense_Mutation_p.H551Y|PTPRT_ENST00000356100.2_Missense_Mutation_p.H551Y	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	551	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACAAAGAGGTGGTGGGTTTCA	0.572000													10	56					0	0	0.000978159	0	0
SLIT3	6586	broad.mit.edu	37	5	168176556	168176556	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:168176556C>T	ENST00000519560.1	-	19	2477	c.2058G>A	c.(2056-2058)ggG>ggA	p.G686G	SLIT3_ENST00000332966.8_Silent_p.G686G|SLIT3_ENST00000404867.3_Silent_p.G686G	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	686	LRRCT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCTAGGGTTCCCACTGACGA	0.552000													12	89					0	0	0.00185496	0	0
OR2T34	127068	broad.mit.edu	37	1	248737443	248737443	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:248737443G>A	ENST00000328782.2	-	1	637	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGCAGCACAGGTACGTGAGC	0.527000													32	88					0	0	0.00195071	0	0
CASP5	838	broad.mit.edu	37	11	104871083	104871083	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:104871083A>C	ENST00000393141.2	-	6	927	c.896T>G	c.(895-897)cTg>cGg	p.L299R	CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000531367.1_Missense_Mutation_p.L144R|CASP5_ENST00000260315.3_Missense_Mutation_p.L286R|CASP5_ENST00000444749.2_Missense_Mutation_p.L228R|CASP5_ENST00000526056.1_Missense_Mutation_p.L299R|CASP5_ENST00000418434.1_Missense_Mutation_p.L144R	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	286					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GTCATAAAGCAGCACATCCGG	0.488000													23	99					0	0	0.00188189	0	0
LRRC7	57554	broad.mit.edu	37	1	70509680	70509680	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:70509680C>T	ENST00000035383.5	+	20	3929	c.3899C>T	c.(3898-3900)cCc>cTc	p.P1300L	LRRC7_ENST00000415775.2_Missense_Mutation_p.P584L|LRRC7_ENST00000310961.5_Intron	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1300						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGCATGCTGCCCTATGGAGGT	0.398000													6	36					0	0	0.00116845	0	0
MYLK3	91807	broad.mit.edu	37	16	46761279	46761279	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:46761279C>T	ENST00000394809.4	-	8	1898	c.1783G>A	c.(1783-1785)Ggt>Agt	p.G595S	MYLK3_ENST00000536476.1_Missense_Mutation_p.G254S	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	595	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AAGAGCTCACCCCCGTCCACG	0.572000													4	17					0	0	0.000602214	0	0
CMYA5	202333	broad.mit.edu	37	5	79032011	79032011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:79032011G>A	ENST00000446378.2	+	2	7454	c.7423G>A	c.(7423-7425)Gaa>Aaa	p.E2475K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2475						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GGTGCTGGCAGAAAAACAAAA	0.378000													7	47					0	0	0.00198382	0	0
ECE1	1889	broad.mit.edu	37	1	21563260	21563260	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:21563260G>A	ENST00000415912.2	-	12	1544	c.1419C>T	c.(1417-1419)acC>acT	p.T473T	ECE1_ENST00000264205.6_Silent_p.T486T|ECE1_ENST00000436918.2_Silent_p.T489T|ECE1_ENST00000374893.6_Silent_p.T489T|ECE1_ENST00000357071.4_Silent_p.T477T	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	489					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CTGATTTTCGGGTTTCCTCAT	0.567000													15	188					0	0	0.000566183	0	0
NOS1	4842	broad.mit.edu	37	12	117768817	117768817	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:117768817G>A	ENST00000317775.6	-	2	743	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F	NOS1_ENST00000344089.3_Missense_Mutation_p.L20F|NOS1_ENST00000338101.4_Missense_Mutation_p.L20F	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	20	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CGCTTGAAGAGACGAACAGAA	0.547000													12	49					0	0	0.000308642	0	0
ZBP1	81030	broad.mit.edu	37	20	56191463	56191463	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:56191463G>A	ENST00000340462.4	-	2	376	c.96C>T	c.(94-96)gcC>gcT	p.A32A	ZBP1_ENST00000371173.3_Silent_p.A32A|ZBP1_ENST00000538947.1_5'UTR|ZBP1_ENST00000541799.1_Silent_p.A32A|ZBP1_ENST00000395822.3_Intron|ZBP1_ENST00000343535.4_Silent_p.A32A			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	32						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TCACCAGCTGGGCAAGTTTCA	0.577000													11	68					0	0	0.00244969	0	0
DAB1	1600	broad.mit.edu	37	1	57476414	57476414	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:57476414C>T	ENST00000371236.2	-	14	1885	c.1622G>A	c.(1621-1623)aGt>aAt	p.S541N	DAB1_ENST00000371231.1_Missense_Mutation_p.S574N|DAB1_ENST00000414851.2_Missense_Mutation_p.S523N|DAB1_ENST00000439789.2_Missense_Mutation_p.S455N|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.S539N|DAB1_ENST00000371234.4_Missense_Mutation_p.S541N			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	574					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGGCTCCCCACTGGGCTCACC	0.448000													5	81					0	0	0.000157383	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104208206	104208206	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:104208206G>A	ENST00000202556.9	-	11	2025	c.1743C>T	c.(1741-1743)tcC>tcT	p.S581S	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	581	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GGAGGTACATGGAGTATATGG	0.498000													10	78					0	0	0.00136819	0	0
CCDC85A	114800	broad.mit.edu	37	2	56419872	56419872	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:56419872C>T	ENST00000407595.2	+	2	1039	c.537C>T	c.(535-537)ggC>ggT	p.G179G	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	179										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGGGTGCAGGCTGCGCAGGCA	0.607000													5	40					0	0	0.00116845	0	0
ADCK3	56997	broad.mit.edu	37	1	227149142	227149142	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:227149142C>A	ENST00000366779.1	+	7	2827	c.56C>A	c.(55-57)aCc>aAc	p.T19N	ADCK3_ENST00000366776.1_Missense_Mutation_p.T19N|ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000366778.1_Intron|ADCK3_ENST00000366775.1_5'UTR|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366777.3_Missense_Mutation_p.T19N			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	19					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GTCAAGCTGACCCAGGCGGCC	0.632000													6	29					2.0095e-06	8.77247e-06	0.00198382	1	0
SPEN	23013	broad.mit.edu	37	1	16260429	16260429	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:16260429C>T	ENST00000375759.3	+	11	7898	c.7694C>T	c.(7693-7695)gCc>gTc	p.A2565V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2565	RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTCAGTGCTGCCCCTTGCCTA	0.522000													38	123					0	0	0.000953801	0	0
FGD1	2245	broad.mit.edu	37	X	54497077	54497077	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:54497077G>A	ENST00000375135.3	-	3	1331	c.598C>T	c.(598-600)Ccc>Tcc	p.P200S		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	200	Pro-rich.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCTGCCCTGGGAGCCAGGCCC	0.652000													4	10					0	0	0.000602214	0	0
TGM3	7053	broad.mit.edu	37	20	2308866	2308866	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:2308866C>T	ENST00000381458.5	+	9	1251	c.1188C>T	c.(1186-1188)gaC>gaT	p.D396D		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	396					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TTAATGCCGACCGCATCACCT	0.562000													13	38					0	0	0.000308642	0	0
ZNF143	7702	broad.mit.edu	37	11	9537807	9537807	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:9537807G>A	ENST00000396602.2	+	14	1703	c.1584G>A	c.(1582-1584)caG>caA	p.Q528Q	ZNF143_ENST00000299606.2_Silent_p.Q500Q|ZNF143_ENST00000530463.1_Silent_p.Q527Q|ZNF143_ENST00000396604.1_Silent_p.Q527Q|ZNF143_ENST00000396597.3_Silent_p.Q497Q	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	528					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		TGGTAACGCAGGATGGCACGC	0.498000													6	37					0	0	0.00116845	0	0
KIAA1109	84162	broad.mit.edu	37	4	123255673	123255673	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:123255673C>T	ENST00000264501.4	+	69	12194	c.11821C>T	c.(11821-11823)Cct>Tct	p.P3941S	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P3941S			Q2LD37	K1109_HUMAN	KIAA1109	3941					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CACCTTACTTCCTCCCCAGCC	0.398000													6	33					0	0	0.000157383	0	0
TTC37	9652	broad.mit.edu	37	5	94814123	94814123	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:94814123G>A	ENST00000358746.2	-	40	4534	c.4236C>T	c.(4234-4236)tcC>tcT	p.S1412S		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1412							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TCATTCCTTGGGATTGATACA	0.438000													6	41					0	0	0.00116845	0	0
NR1D2	9975	broad.mit.edu	37	3	24018800	24018800	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:24018800C>T	ENST00000312521.4	+	8	1949	c.1630C>T	c.(1630-1632)Cat>Tat	p.H544Y	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	544					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						AATGAAAAACCATCCAAATGA	0.403000													5	75					0	0	0.000602214	0	0
KIF1B	23095	broad.mit.edu	37	1	10381867	10381867	+	Silent	SNP	C	C	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:10381867C>A	ENST00000377086.1	+	24	2512	c.2310C>A	c.(2308-2310)gcC>gcA	p.A770A	KIF1B_ENST00000377081.1_Silent_p.A770A|KIF1B_ENST00000263934.6_Silent_p.A724A			O60333	KIF1B_HUMAN	kinesin family member 1B	770					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GGGGCAATGCCGTGTACCTAA	0.512000													5	65					0.00116845	0.00505107	0.00116845	1	0
ADD2	119	broad.mit.edu	37	2	70918027	70918027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:70918027G>A	ENST00000264436.3	-	8	1184	c.740C>T	c.(739-741)tCc>tTc	p.S247F	ADD2_ENST00000413157.2_Missense_Mutation_p.S247F|ADD2_ENST00000407644.2_Missense_Mutation_p.S247F|ADD2_ENST00000430656.1_Missense_Mutation_p.S263F|ADD2_ENST00000355733.3_Missense_Mutation_p.S247F|AC007395.3_ENST00000457851.1_RNA	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	247					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GGCATTGTGGGAGACAGGCAG	0.577000													6	33					0	0	0.000157383	0	0
SYT3	84258	broad.mit.edu	37	19	51135934	51135934	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:51135934G>A	ENST00000338916.4	-	2	916	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	SYT3_ENST00000544769.1_Missense_Mutation_p.P95S|SYT3_ENST00000600079.1_Missense_Mutation_p.P95S|SYT3_ENST00000593901.1_Missense_Mutation_p.P95S	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	95						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TTGCGCAGGGGGCCACCGCCC	0.677000													7	25					0	0	0.000274275	0	0
TAF1L	138474	broad.mit.edu	37	9	32632916	32632916	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:32632916G>A	ENST00000242310.4	-	1	2751	c.2662C>T	c.(2662-2664)Cgt>Tgt	p.R888C		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	888					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.R888C(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTTGGTAAACGAAAATCAGAC	0.478000													21	91					0	0	0.00047179	0	0
NBPF1	55672	broad.mit.edu	37	1	16901664	16901664	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:16901664G>A	ENST00000430580.2	-	20	3067	c.2180C>T	c.(2179-2181)tCg>tTg	p.S727L	NBPF1_ENST00000432949.1_Missense_Mutation_p.S185L|NBPF1_ENST00000287968.8_Missense_Mutation_p.S92L	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	727	NBPF 3.					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)		GGGGGCAGACGATTTCTGCAC	0.428000													31	459					0	0	0.00222228	0	0
AP3B2	8120	broad.mit.edu	37	15	83346866	83346866	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:83346866C>T	ENST00000261722.3	-	11	1443	c.1236G>A	c.(1234-1236)cgG>cgA	p.R412R	AP3B2_ENST00000535359.1_Silent_p.R412R|AP3B2_ENST00000535348.1_Silent_p.R380R|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	412					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCTGGAATTCCCGTAGGACAG	0.587000													6	38					0	0	0.00198382	0	0
OBSCN	84033	broad.mit.edu	37	1	228467961	228467961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:228467961C>T	ENST00000570156.2	+	34	9106	c.9032C>T	c.(9031-9033)tCc>tTc	p.S3011F	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.S1429F|OBSCN_ENST00000284548.11_Missense_Mutation_p.S2582F|OBSCN_ENST00000422127.1_Missense_Mutation_p.S2582F	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2012	Ig-like 30.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGTGAGCTGTCCCACGAGGAT	0.637000													5	19					0	0	0.000602214	0	0
A2ML1	144568	broad.mit.edu	37	12	8990110	8990110	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:8990110G>A	ENST00000299698.7	+	8	983	c.803G>A	c.(802-804)cGa>cAa	p.R268Q		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	112						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TACTGGTATCGAGAGGTGGAA	0.493000													6	56					0	0	0.000274275	0	0
GPR35	2859	broad.mit.edu	37	2	241570128	241570128	+	Silent	SNP	G	G	A	rs147827675		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:241570128G>A	ENST00000319838.5	+	6	1701	c.759G>A	c.(757-759)acG>acA	p.T253T	GPR35_ENST00000403859.1_Silent_p.T253T|GPR35_ENST00000407714.1_Silent_p.T253T|GPR35_ENST00000430267.1_Silent_p.T253T|GPR35_ENST00000438013.2_Silent_p.T284T	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	253			T -> M (in dbSNP:rs12468485).			integral to plasma membrane	G-protein coupled receptor activity	p.T253T(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		TCCTGGAGACGATCCGTCGCG	0.627000													8	49					0	0	0.000274275	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290912	141290912	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:141290912C>T	ENST00000247452.3	-	3	1209	c.862G>A	c.(862-864)Gag>Aag	p.E288K		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	288	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGGCACCTCCCGATACTCC	0.507000										HNSCC(46;0.14)			5	21					0	0	0.00116845	0	0
MSGN1	343930	broad.mit.edu	37	2	17997928	17997928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:17997928C>T	ENST00000281047.3	+	1	166	c.143C>T	c.(142-144)tCc>tTc	p.S48F		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	48					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CAGAGCCTTTCCCCGGCTCCA	0.647000													7	37					0	0	0.00198382	0	0
POLR1B	84172	broad.mit.edu	37	2	113321967	113321967	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:113321967C>T	ENST00000263331.5	+	10	2217	c.1637C>T	c.(1636-1638)cCc>cTc	p.P546L	POLR1B_ENST00000537335.1_Missense_Mutation_p.P335L|POLR1B_ENST00000541869.1_Missense_Mutation_p.P584L|POLR1B_ENST00000417433.2_Missense_Mutation_p.P490L|POLR1B_ENST00000409894.3_Missense_Mutation_p.P395S	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	546					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GATGGAGCTCCCCACCGATCA	0.517000													8	53					0	0	0.000157383	0	0
PANX1	24145	broad.mit.edu	37	11	93913146	93913146	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:93913146G>A	ENST00000227638.3	+	4	1309	c.924G>A	c.(922-924)gtG>gtA	p.V308V	PANX1_ENST00000436171.2_Silent_p.V308V	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	308					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTCTCAAAGTGTACGAAATCC	0.438000													7	23					0	0	0.00198382	0	0
LAMB1	3912	broad.mit.edu	37	7	107626714	107626714	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:107626714G>A	ENST00000393561.1	-	4	774	c.590C>T	c.(589-591)tCg>tTg	p.S197L	LAMB1_ENST00000222399.6_Missense_Mutation_p.S173L|LAMB1_ENST00000393560.1_Missense_Mutation_p.S173L			P07942	LAMB1_HUMAN	laminin, beta 1	173	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.S173L(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCTGGAAACGAGGCCTCACA	0.453000													9	69					0	0	0.000274275	0	0
EGFLAM	133584	broad.mit.edu	37	5	38352349	38352349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:38352349C>T	ENST00000322350.5	+	5	807	c.461C>T	c.(460-462)tCg>tTg	p.S154L	EGFLAM_ENST00000354891.3_Missense_Mutation_p.S154L	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	154	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATTGTGGTTTCGGATTCTGAG	0.522000													11	138					0	0	0.00136819	0	0
MYO3B	140469	broad.mit.edu	37	2	171239646	171239646	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:171239646G>A	ENST00000334231.6	+	11	1159	c.1159G>A	c.(1159-1161)Gac>Aac	p.D387N	MYO3B_ENST00000409044.3_Missense_Mutation_p.D378N|MYO3B_ENST00000408978.4_Missense_Mutation_p.D378N|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	378	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ATATGTTGGAGACATCTTAAT	0.343000													9	121					0	0	0.000442599	0	0
CCDC157	550631	broad.mit.edu	37	22	30766800	30766800	+	Silent	SNP	G	G	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:30766800G>C	ENST00000405659.1	+	5	1615	c.906G>C	c.(904-906)ggG>ggC	p.G302G	CCDC157_ENST00000338306.3_Silent_p.G302G			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	302										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						AGGCTGAAGGGCAGAAGGATG	0.677000													9	24					0	0	0.000673444	0	0
FAM83F	113828	broad.mit.edu	37	22	40415271	40415271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:40415271G>A	ENST00000333407.5	+	2	683	c.589G>A	c.(589-591)Gac>Aac	p.D197N	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	197										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CATCATCCTGGACGAGGCAGG	0.527000													15	59					0	0	0.000566183	0	0
MCPH1	79648	broad.mit.edu	37	8	6479056	6479056	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:6479056C>T	ENST00000344683.5	+	13	2372	c.2296C>T	c.(2296-2298)Cct>Tct	p.P766S	CTD-2541M15.1_ENST00000522897.1_RNA|CTD-2541M15.1_ENST00000515608.1_RNA|MCPH1_ENST00000521175.1_3'UTR	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	766	BRCT 3.					microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GTTTGTCTCGCCTGCCAGCAG	0.657000													5	18					0	0	0.000602214	0	0
MROH2B	133558	broad.mit.edu	37	5	41009457	41009457	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:41009457C>T	ENST00000399564.4	-	32	3795	c.3345G>A	c.(3343-3345)ggG>ggA	p.G1115G	MROH2B_ENST00000506092.2_Silent_p.G670G	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GCAAGAGTTTCCCACTGGAGG	0.512000													14	90					0	0	0.000422831	0	0
NFXL1	152518	broad.mit.edu	37	4	47912954	47912954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:47912954C>T	ENST00000507489.1	-	3	469	c.293G>A	c.(292-294)aGa>aAa	p.R98K	NFXL1_ENST00000381538.3_Missense_Mutation_p.R98K|NFXL1_ENST00000329043.3_Missense_Mutation_p.R98K	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	98						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						AACAAGTTTTCTGGCTGCAGC	0.328000													12	59					0	0	0.00185496	0	0
LIPK	643414	broad.mit.edu	37	10	90486639	90486639	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:90486639C>T	ENST00000404190.1	+	2	193	c.193C>T	c.(193-195)Cca>Tca	p.P65S		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	65					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TTATAGGATTCCACATGGAAG	0.363000													4	22					0	0	0.00024832	0	0
PLA2G3	50487	broad.mit.edu	37	22	31533740	31533740	+	Missense_Mutation	SNP	G	G	A	rs145598562		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:31533740G>A	ENST00000215885.3	-	4	1274	c.1022C>T	c.(1021-1023)gCc>gTc	p.A341V		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	341					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GCCTGTGGGGGCCACATCAAG	0.617000													18	100					0	0	0.00152264	0	0
BAG6	7917	broad.mit.edu	37	6	31617056	31617056	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:31617056G>A	ENST00000404765.2	-	4	632	c.343C>T	c.(343-345)Cct>Tct	p.P115S	BAG6_ENST00000211379.5_Missense_Mutation_p.P115S|BAG6_ENST00000362049.6_Missense_Mutation_p.P115S|BAG6_ENST00000375976.4_Missense_Mutation_p.P115S|BAG6_ENST00000439687.2_Missense_Mutation_p.P115S|BAG6_ENST00000375964.6_Missense_Mutation_p.P115S			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	115					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CGAGTACCAGGGGGGGATCCC	0.587000													17	242					0	0	0.000958276	0	0
KIAA1257	57501	broad.mit.edu	37	3	128690150	128690150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:128690150G>A	ENST00000265068.5	-	8	1315	c.1148C>T	c.(1147-1149)gCc>gTc	p.A383V	RP11-723O4.6_ENST00000508239.1_5'UTR|KIAA1257_ENST00000511438.1_Missense_Mutation_p.A383V|KIAA1257_ENST00000515659.1_Missense_Mutation_p.A271V	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	383										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CGGCATGACGGCCAGCTGGAT	0.592000											OREG0015784	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	20					0	0	0.000602214	0	0
SLC35F4	341880	broad.mit.edu	37	14	58060701	58060701	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:58060701G>A	ENST00000556826.1	-	2	481	c.245C>T	c.(244-246)tCc>tTc	p.S82F	SLC35F4_ENST00000554729.1_5'UTR|SLC35F4_ENST00000339762.6_Missense_Mutation_p.S118F	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AACTCCTGAGGATCCTTGGTT	0.458000													4	35					0	0	0.000602214	0	0
SVOPL	136306	broad.mit.edu	37	7	138305866	138305866	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:138305866C>T	ENST00000421622.1	-	10	1126	c.918G>A	c.(916-918)acG>acA	p.T306T	SVOPL_ENST00000463557.1_Intron|SVOPL_ENST00000419765.3_Silent_p.T426T|SVOPL_ENST00000288513.5_Silent_p.T274T|SVOPL_ENST00000436657.1_Silent_p.T274T			Q8N434	SVOPL_HUMAN	SVOP-like	426						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AAGCGCGCATCGTGGTGGGGT	0.602000													5	17					0	0	0.00116845	0	0
RBM25	58517	broad.mit.edu	37	14	73538380	73538380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:73538380C>T	ENST00000261973.7	+	2	316	c.31C>T	c.(31-33)Ccc>Tcc	p.P11S	RBM25_ENST00000525321.1_Missense_Mutation_p.P11S|RBM25_ENST00000526754.1_Missense_Mutation_p.P11S|RBM25_ENST00000527432.1_Missense_Mutation_p.P11S|RBM25_ENST00000540173.1_Missense_Mutation_p.P11S	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	11					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GAATCGCCCTCCCATGGGAAT	0.433000													7	57					0	0	0.000274275	0	0
GLRA1	2741	broad.mit.edu	37	5	151231166	151231166	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:151231166C>T	ENST00000274576.4	-	7	990		c.e7-1		GLRA1_ENST00000455880.2_Splice_Site|GLRA1_ENST00000471351.2_Splice_Site|GLRA1_ENST00000545569.1_Splice_Site	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1						muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTGAATTTACCTGCAAGAAAT	0.493000													6	34					0	0	0.00116845	0	0
CHGB	1114	broad.mit.edu	37	20	5903799	5903799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:5903799G>A	ENST00000378961.4	+	4	1213	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	337						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGCTTCAGAGGAAGAACCTGA	0.527000													12	76					0	0	0.00136819	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208316	140208316	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140208316G>A	ENST00000529310.1	+	1	754	c.640G>A	c.(640-642)Gcc>Acc	p.A214T	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.A214T|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCCTGACAGCCACAGATGG	0.443000													7	46					0	0	0.000157383	0	0
ABCA2	20	broad.mit.edu	37	9	139905119	139905119	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:139905119G>A	ENST00000265662.5	-	40	6274	c.6127C>T	c.(6127-6129)Cgg>Tgg	p.R2043W	ABCA2_ENST00000371605.3_Missense_Mutation_p.R2042W|ABCA2_ENST00000341511.6_Missense_Mutation_p.R2043W			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2042					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCGTCTCCCCGGAGCACTCGC	0.637000													16	72					0	0	0.00188189	0	0
A2ML1	144568	broad.mit.edu	37	12	9020603	9020603	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:9020603C>T	ENST00000299698.7	+	30	4063	c.3883C>T	c.(3883-3885)Cct>Tct	p.P1295S	A2ML1_ENST00000539547.1_Missense_Mutation_p.P804S	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1139						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GCCCAATGTCCCTGGAATGTA	0.488000													7	91					0	0	0.000274275	0	0
RANBP17	64901	broad.mit.edu	37	5	170720920	170720920	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:170720920G>A	ENST00000523189.1	+	26	3141	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	993					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CATTGTCTTTGAAGACTGTCG	0.493000			T	TRD@	ALL								13	239					0	0	0.000958276	0	0
MSH4	4438	broad.mit.edu	37	1	76344743	76344743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:76344743G>A	ENST00000263187.3	+	12	1711	c.1607G>A	c.(1606-1608)gGa>gAa	p.G536E		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	536					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TCTGCTCGAGGATTTTTCATC	0.348000								Mismatch excision repair (MMR)					8	58					0	0	0.000157383	0	0
ACADM	34	broad.mit.edu	37	1	76198367	76198367	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:76198367C>T	ENST00000370841.4	+	3	594	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C	ACADM_ENST00000370834.5_Missense_Mutation_p.R53C|ACADM_ENST00000543667.1_5'UTR|ACADM_ENST00000541113.1_Missense_Mutation_p.R17C|ACADM_ENST00000420607.2_Missense_Mutation_p.R57C	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	53			R -> C (in ACADMD).		carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						AGCTACTGCTCGTAAATTTGC	0.343000													11	173					0	0	0.00136819	0	0
RNASEH1	246243	broad.mit.edu	37	2	3597967	3597967	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:3597967G>A	ENST00000315212.3	-	4	860	c.505C>T	c.(505-507)Cct>Tct	p.P169S		NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	169	RNase H.				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		ACTTACAAAGGATGGCCTGGC	0.493000													9	154					0	0	0.000673444	0	0
IFIH1	64135	broad.mit.edu	37	2	163124026	163124026	+	Missense_Mutation	SNP	T	T	A	rs116508532	by1000genomes	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:163124026T>A	ENST00000263642.2	-	15	3256	c.2861A>T	c.(2860-2862)tAt>tTt	p.Y954F		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	954					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ATTTATTTGATAGTCGGCACA	0.368000													6	79					0	0	0.000157383	0	0
TFR2	7036	broad.mit.edu	37	7	100229756	100229756	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:100229756G>A	ENST00000462107.1	-	8	1202	c.915C>T	c.(913-915)tcC>tcT	p.S305S	TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000431692.1_Intron|TFR2_ENST00000223051.3_Silent_p.S305S			Q9UP52	TFR2_HUMAN	transferrin receptor 2	305					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTGGGTCCTGGGAGAAGTCCG	0.612000													27	67					0	0	0.00127121	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69093743	69093743	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:69093743C>T	ENST00000332644.5	-	10	1298	c.1137G>A	c.(1135-1137)tgG>tgA	p.W379*		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	379	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CAACAAGATGCCAGATATTTC	0.368000													4	39					0	0	0.00024832	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213251135	213251135	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:213251135C>T	ENST00000366960.3	+	3	389	c.239C>T	c.(238-240)cCa>cTa	p.P80L	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.P68L|RPS6KC1_ENST00000543470.1_5'UTR|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_5'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	80	PX.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TTGTTTCCTCCATTTGCTAAA	0.269000													14	61					0	0	0.000422831	0	0
INADL	10207	broad.mit.edu	37	1	62293127	62293127	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:62293127C>T	ENST00000371158.2	+	16	1966	c.1852C>T	c.(1852-1854)Cga>Tga	p.R618*	INADL_ENST00000316485.6_Nonsense_Mutation_p.R618*	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	618	PDZ 4.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AAAATCTCGCCGAGAAGCAGT	0.438000													14	143					0	0	0.00185496	0	0
SLC38A10	124565	broad.mit.edu	37	17	79226063	79226063	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:79226063G>A	ENST00000374759.3	-	13	2260	c.1877C>T	c.(1876-1878)gCc>gTc	p.A626V	SLC38A10_ENST00000288439.5_Missense_Mutation_p.A626V	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	626					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCCCCCCTTGGCCTTTTCCCC	0.706000													9	19					0	0	0.000274275	0	0
NOD2	64127	broad.mit.edu	37	16	50745443	50745443	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:50745443C>T	ENST00000300589.2	+	4	1726	c.1621C>T	c.(1621-1623)Cgg>Tgg	p.R541W		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	541	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CAGTCTTCTTCGGGGCCGCCT	0.607000													6	34					0	0	0.00198382	0	0
PRKAA2	5563	broad.mit.edu	37	1	57158174	57158174	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:57158174C>T	ENST00000371244.4	+	4	540	c.475_splice	c.e4+1	p.F158_splice		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	158	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TAGCCGATTTCGGTATGTAAC	0.413000													7	81					0	0	0.000274275	0	0
TSFM	10102	broad.mit.edu	37	12	58180876	58180876	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:58180876C>T	ENST00000454289.3	+	4	627	c.414C>T	c.(412-414)gtC>gtT	p.V138V	TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000540550.1_Silent_p.V138V|TSFM_ENST00000543727.1_Silent_p.V138V|TSFM_ENST00000550559.1_Silent_p.V138V|TSFM_ENST00000350762.5_Silent_p.V98V|TSFM_ENST00000548851.1_Silent_p.V138V|TSFM_ENST00000323833.8_Silent_p.V138V	NM_005726.5	NP_005717.3	P43897	EFTS_HUMAN	Ts translation elongation factor, mitochondrial	138					regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity			endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AACTGTTGGTCCAGCAAGTAG	0.378000													4	22					0	0	0.000602214	0	0
IL18R1	8809	broad.mit.edu	37	2	102992492	102992492	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:102992492C>T	ENST00000409599.1	+	6	950	c.594C>T	c.(592-594)atC>atT	p.I198I	IL18R1_ENST00000233957.1_Silent_p.I198I			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	198	Ig-like C2-type 2.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TATTTAATATCACCAAAACCT	0.333000													16	58					0	0	0.00121646	0	0
TMEM161B	153396	broad.mit.edu	37	5	87516402	87516402	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:87516402G>A	ENST00000296595.6	-	5	548	c.424C>T	c.(424-426)Cta>Tta	p.L142L	TMEM161B_ENST00000514135.1_Silent_p.L142L|TMEM161B_ENST00000511218.1_5'UTR|TMEM161B_ENST00000512429.1_Silent_p.L131L|TMEM161B_ENST00000506536.1_5'UTR|TMEM161B_ENST00000509387.1_Silent_p.L15L	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	142						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AAAACAAGTAGGCACCAGACT	0.338000													18	94					0	0	0.000958276	0	0
DDI1	414301	broad.mit.edu	37	11	103907887	103907887	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:103907887G>A	ENST00000302259.3	+	1	580	c.337G>A	c.(337-339)Gga>Aga	p.G113R	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	113					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		ACAGCACCCTGGACAGCAGCA	0.687000													6	27					0	0	0.00116845	0	0
TRERF1	55809	broad.mit.edu	37	6	42236751	42236751	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:42236751G>A	ENST00000541110.1	-	5	1146	c.578C>T	c.(577-579)cCa>cTa	p.P193L	TRERF1_ENST00000372922.4_Missense_Mutation_p.P193L|TRERF1_ENST00000340840.2_Missense_Mutation_p.P193L|TRERF1_ENST00000354325.2_Missense_Mutation_p.P193L|TRERF1_ENST00000372917.4_Missense_Mutation_p.P193L			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	193					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGCCGGTGCTGGGGGCTCCAT	0.622000													6	49					0	0	0.00198382	0	0
ZNF831	128611	broad.mit.edu	37	20	57768659	57768659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:57768659C>T	ENST00000371030.2	+	1	2585	c.2585C>T	c.(2584-2586)cCc>cTc	p.P862L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	862						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GATGCCGATCCCGGGGAGGTG	0.647000													9	43					0	0	0.000274275	0	0
CDH10	1008	broad.mit.edu	37	5	24488092	24488092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:24488092C>T	ENST00000264463.4	-	12	2554	c.2047G>A	c.(2047-2049)Gaa>Aaa	p.E683K	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	683					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTTTTTTTCCTCAATGGCT	0.478000										HNSCC(23;0.051)			5	44					0	0	0.00116845	0	0
HTR3B	9177	broad.mit.edu	37	11	113802506	113802506	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:113802506G>A	ENST00000260191.2	+	4	542	c.285G>A	c.(283-285)tgG>tgA	p.W95*	HTR3B_ENST00000537778.1_Nonsense_Mutation_p.W84*	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	95					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TTTTATCCTGGAACTCCAGCA	0.413000													11	67					0	0	0.000978159	0	0
COLQ	8292	broad.mit.edu	37	3	15512102	15512102	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:15512102C>T	ENST00000383785.2	-	11	783	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	COLQ_ENST00000383781.4_Missense_Mutation_p.E210K|COLQ_ENST00000603808.1_Missense_Mutation_p.E220K|COLQ_ENST00000435459.2_Missense_Mutation_p.E210K|COLQ_ENST00000383788.5_Missense_Mutation_p.E220K|COLQ_ENST00000383786.5_Missense_Mutation_p.E186K|COLQ_ENST00000383787.2_Missense_Mutation_p.E211K			Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	220	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						ATCCCAGGTTCACCTTTTGGA	0.537000													9	98					0	0	0.000978159	0	0
SNAP91	9892	broad.mit.edu	37	6	84371229	84371229	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:84371229C>T	ENST00000428679.2	-	5	1037	c.444G>A	c.(442-444)gtG>gtA	p.V148V	SNAP91_ENST00000369694.2_Silent_p.V148V|SNAP91_ENST00000521743.1_Silent_p.V148V|SNAP91_ENST00000195649.6_Silent_p.V148V|SNAP91_ENST00000521485.1_Silent_p.V148V|SNAP91_ENST00000520213.1_Silent_p.V148V|SNAP91_ENST00000439399.2_Silent_p.V148V|SNAP91_ENST00000520302.1_Silent_p.V148V|SNAP91_ENST00000437520.1_Silent_p.V148V			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	148					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ACCCTTTCTTCACCCTGGCAA	0.338000													5	48					0	0	0.000602214	0	0
CADPS	8618	broad.mit.edu	37	3	62464030	62464030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:62464030G>A	ENST00000383710.4	-	23	3584	c.3235C>T	c.(3235-3237)Cgg>Tgg	p.R1079W	CADPS_ENST00000283269.9_Missense_Mutation_p.R1040W|CADPS_ENST00000357948.3_Missense_Mutation_p.R1000W	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1079	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGCAGGTCCCGAATGAAGGTC	0.468000													9	46					0	0	0.000442599	0	0
AKAP4	8852	broad.mit.edu	37	X	49958065	49958065	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:49958065G>A	ENST00000376056.2	-	5	1422	c.1272C>T	c.(1270-1272)gcC>gcT	p.A424A	AKAP4_ENST00000358526.2_Silent_p.A433A|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Silent_p.A424A			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	433					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CACCTATAAGGGCACTGACCA	0.453000													13	80					0	0	0.00074312	0	0
INPP5D	3635	broad.mit.edu	37	2	234091090	234091090	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:234091090C>T	ENST00000359570.5	+	21	2070	c.2070C>T	c.(2068-2070)agC>agT	p.S690S	INPP5D_ENST00000450745.1_Silent_p.S454S|INPP5D_ENST00000538935.1_3'UTR|INPP5D_ENST00000455936.2_Silent_p.S454S			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	702					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GTGACCACAGCCCTGTCTTTG	0.522000													10	54					0	0	0.00136819	0	0
GPR1	2825	broad.mit.edu	37	2	207040918	207040918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:207040918C>T	ENST00000407325.2	-	3	1416	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	GPR1_ENST00000437420.1_Missense_Mutation_p.E352K	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	352						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		TGAGCTGTTTCCAGGAGACAC	0.408000													6	40					0	0	0.000274275	0	0
PRPF6	24148	broad.mit.edu	37	20	62664292	62664292	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:62664292G>T	ENST00000535781.1	+	20	2763	c.2652G>T	c.(2650-2652)aaG>aaT	p.K884N	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	924					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					ACTGGCAGAAGAAGATCGGGG	0.637000													11	36					1.36491e-13	5.9905e-13	0.00185496	1	0
ATP13A2	23400	broad.mit.edu	37	1	17316661	17316661	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:17316661G>A	ENST00000452699.1	-	21	2547	c.2358C>T	c.(2356-2358)ttC>ttT	p.F786F	ATP13A2_ENST00000341676.5_Silent_p.F786F|ATP13A2_ENST00000326735.8_Silent_p.F791F|RP1-37C10.3_ENST00000446261.1_RNA	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	791					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CCATCGGCAGGAACTCGAGAG	0.642000													6	35					0	0	0.00198382	0	0
PIGG	54872	broad.mit.edu	37	4	509863	509863	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:509863C>T	ENST00000453061.2	+	6	1109	c.1003C>T	c.(1003-1005)Cta>Tta	p.L335L	PIGG_ENST00000536264.1_Silent_p.L213L|PIGG_ENST00000310340.5_Silent_p.L335L|PIGG_ENST00000383028.4_Silent_p.L202L|PIGG_ENST00000504346.1_Silent_p.L246L|PIGG_ENST00000503111.1_Silent_p.L246L|PIGG_ENST00000509768.1_Silent_p.L246L|PIGG_ENST00000296306.7_Silent_p.L246L	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	335					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						AGGGAGCCTCCTATTCCCAGT	0.473000													7	74					0	0	0.000157383	0	0
COL4A2	1284	broad.mit.edu	37	13	111098181	111098181	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:111098181C>T	ENST00000360467.5	+	17	1269	c.963C>T	c.(961-963)agC>agT	p.S321S		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	321	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGCAGGGAAGCCGAGGCCTGG	0.478000													22	95					0	0	0.00127121	0	0
PTGFRN	5738	broad.mit.edu	37	1	117491913	117491913	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:117491913C>T	ENST00000393203.2	+	4	1079	c.932C>T	c.(931-933)cCc>cTc	p.P311L		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	311	Ig-like C2-type 3.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GACGTCCGGCCCGAGGTGACG	0.607000													6	38					0	0	0.00116845	0	0
TIMM44	10469	broad.mit.edu	37	19	7998984	7998984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:7998984G>A	ENST00000270538.3	-	5	801	c.533C>T	c.(532-534)gCc>gTc	p.A178V		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	178					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						CTGGGAGAGGGCTCTGAAGGC	0.687000													10	62					0	0	0.00185496	0	0
ARAP1	116985	broad.mit.edu	37	11	72423292	72423292	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:72423292G>A	ENST00000359373.5	-	7	1822	c.971C>T	c.(970-972)cCc>cTc	p.P324L	ARAP1_ENST00000334211.8_Missense_Mutation_p.P79L|ARAP1_ENST00000429686.1_Missense_Mutation_p.P79L|ARAP1_ENST00000393605.3_Missense_Mutation_p.P84L|ARAP1_ENST00000393609.3_Missense_Mutation_p.P324L|ARAP1_ENST00000455638.2_Missense_Mutation_p.P324L|ARAP1_ENST00000426523.1_Missense_Mutation_p.P79L			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	324					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGGTGTGACGGGGGTGGAGCC	0.662000													15	224					0	0	0.00121646	0	0
PAIP1	10605	broad.mit.edu	37	5	43533872	43533872	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:43533872G>A	ENST00000306846.3	-	9	1452	c.1220C>T	c.(1219-1221)tCt>tTt	p.S407F	PAIP1_ENST00000338972.4_Missense_Mutation_p.S295F|PAIP1_ENST00000514514.1_Missense_Mutation_p.S328F|PAIP1_ENST00000436644.2_Missense_Mutation_p.S328F	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	407					mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					AACACCATCAGATGTATAAAA	0.353000													19	121					0	0	0.00152264	0	0
PMFBP1	83449	broad.mit.edu	37	16	72174465	72174465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:72174465C>T	ENST00000537465.1	-	6	811	c.653G>A	c.(652-654)gGt>gAt	p.G218D	PMFBP1_ENST00000355636.6_Missense_Mutation_p.G73D|PMFBP1_ENST00000237353.10_Missense_Mutation_p.G218D			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	218										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TGAATGATCACCCTTGTTCTC	0.393000													13	124					0	0	0.00244969	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101774450	101774450	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:101774450G>A	ENST00000506729.1	-	7	1318	c.1147C>T	c.(1147-1149)Cca>Tca	p.P383S	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.P383S|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.P321S|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000513675.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	383						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ATGAGCACTGGATTCTTCATC	0.274000													20	89					0	0	0.00152264	0	0
ITCH	83737	broad.mit.edu	37	20	33026303	33026303	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:33026303C>T	ENST00000374864.4	+	8	759	c.546C>T	c.(544-546)gaC>gaT	p.D182D	ITCH_ENST00000262650.6_Silent_p.D223D|ITCH_ENST00000535650.1_Silent_p.D72D	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	223					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GATCAGATGACCCTGAAGATG	0.423000													10	82					0	0	0.00185496	0	0
EVC	2121	broad.mit.edu	37	4	5812151	5812151	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:5812151C>T	ENST00000382674.2	+	20	3052	c.2868C>T	c.(2866-2868)tcC>tcT	p.S956S	EVC_ENST00000264956.6_Silent_p.S956S			P57679	EVC_HUMAN	Ellis van Creveld syndrome	956					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACCTTGCCTCCGGGGACCAGA	0.582000													5	17					0	0	0.00198382	0	0
C6	729	broad.mit.edu	37	5	41149355	41149355	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:41149355C>T	ENST00000263413.3	-	17	2875	c.2611G>A	c.(2611-2613)Gaa>Aaa	p.E871K	C6_ENST00000337836.5_Missense_Mutation_p.E871K	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	871	C5b-binding domain.|Complement control factor I module 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.E871K(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GAACATTTTTCCCAGTCATAG	0.418000													31	167					0	0	0.00283554	0	0
MYCBP2	23077	broad.mit.edu	37	13	77745767	77745767	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:77745767C>T	ENST00000360084.5	-	0	5632				MYCBP2_ENST00000544440.2_Missense_Mutation_p.S1847N|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S1847N|MYCBP2_ENST00000407578.2_Missense_Mutation_p.S1885N			O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATCAAATTCACTCCTGTAGCA	0.358000													4	38					0	0	0.00024832	0	0
IGSF10	285313	broad.mit.edu	37	3	151171298	151171298	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:151171298G>T	ENST00000282466.3	-	3	588	c.589C>A	c.(589-591)Ctg>Atg	p.L197M		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	197					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGGAGGTCAGGAAGTTATCA	0.433000													11	71					0.00010058	0.000437823	0.00136819	1	0
GUCY2F	2986	broad.mit.edu	37	X	108652302	108652302	+	Silent	SNP	C	C	T	rs148430164		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:108652302C>T	ENST00000218006.2	-	9	2178	c.1887G>A	c.(1885-1887)ggG>ggA	p.G629G		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	629	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CTTCTAGGCTCCCTCGGGAAC	0.413000													16	77					0	0	0.00121646	0	0
KCNK10	54207	broad.mit.edu	37	14	88737116	88737116	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:88737116C>T	ENST00000312350.5	-	1	139	c.18G>A	c.(16-18)aaG>aaA	p.K6K	KCNK10_ENST00000340700.5_Intron|KCNK10_ENST00000319231.5_Intron	NM_138318.2	NP_612191.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	0					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						tcctgtcccccttaaatccat	0.522000													18	105					0	0	0.00188189	0	0
COPB1	1315	broad.mit.edu	37	11	14502334	14502334	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:14502334G>A	ENST00000249923.3	-	10	1483	c.1183C>T	c.(1183-1185)Cca>Tca	p.P395S	COPB1_ENST00000439561.2_Missense_Mutation_p.P395S	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	395					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GCCATATCTGGAAATCGGACA	0.313000													9	159					0	0	0.000978159	0	0
CTNND1	1500	broad.mit.edu	37	11	57577669	57577669	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:57577669G>A	ENST00000524630.1	+	15	3019	c.2506G>A	c.(2506-2508)Gaa>Aaa	p.E836K	CTNND1_ENST00000529919.1_Missense_Mutation_p.E842K|CTNND1_ENST00000533667.1_Missense_Mutation_p.E513K|CTNND1_ENST00000428599.2_Missense_Mutation_p.E836K|CTNND1_ENST00000526357.1_Missense_Mutation_p.E782K|CTNND1_ENST00000532463.1_Missense_Mutation_p.E735K|CTNND1_ENST00000529873.1_Missense_Mutation_p.E782K|CTNND1_ENST00000529986.1_Missense_Mutation_p.E735K|CTNND1_ENST00000532245.1_Missense_Mutation_p.E735K|CTNND1_ENST00000526772.1_Missense_Mutation_p.E513K|CTNND1_ENST00000399050.4_Missense_Mutation_p.E842K|CTNND1_ENST00000526938.1_Missense_Mutation_p.E842K|CTNND1_ENST00000361332.4_Missense_Mutation_p.E836K|CTNND1_ENST00000361796.4_Missense_Mutation_p.E836K|CTNND1_ENST00000360682.6_Missense_Mutation_p.E842K|CTNND1_ENST00000361391.6_Missense_Mutation_p.E836K|CTNND1_ENST00000534579.1_Missense_Mutation_p.E782K|CTNND1_ENST00000528621.1_Missense_Mutation_p.E782K|CTNND1_ENST00000415361.2_Missense_Mutation_p.E741K|CTNND1_ENST00000525902.1_Missense_Mutation_p.E519K|CTNND1_ENST00000532649.1_Missense_Mutation_p.E782K|CTNND1_ENST00000530748.1_Missense_Mutation_p.E788K|CTNND1_ENST00000527467.1_Missense_Mutation_p.E519K|CTNND1_ENST00000530094.1_Missense_Mutation_p.E735K|CTNND1_ENST00000529526.1_Missense_Mutation_p.E782K|CTNND1_ENST00000528232.1_Missense_Mutation_p.E741K|CTNND1_ENST00000426142.2_Missense_Mutation_p.E735K|CTNND1_ENST00000399039.4_Missense_Mutation_p.E842K|CTNND1_ENST00000532844.1_Missense_Mutation_p.E788K|CTNND1_ENST00000358694.6_Missense_Mutation_p.E836K|CTNND1_ENST00000532787.1_Missense_Mutation_p.E735K|CTNND1_ENST00000531014.1_Missense_Mutation_p.E513K			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	842					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				ACTGGAAAAAGAAGGATGGAA	0.403000													7	52					0	0	0.000274275	0	0
PSG6	5675	broad.mit.edu	37	19	43411133	43411133	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:43411133G>A	ENST00000187910.2	-	5	1246	c.1181C>T	c.(1180-1182)tCt>tTt	p.S394F	PSG6_ENST00000402603.4_Missense_Mutation_p.S301F|PSG6_ENST00000292125.2_Missense_Mutation_p.S394F	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GTTACGAACAGAGCAAGCATA	0.438000													38	176					0	0	0.000814825	0	0
BCAR3	8412	broad.mit.edu	37	1	94033370	94033370	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:94033370G>A	ENST00000370244.1	-	12	2301	c.2013C>T	c.(2011-2013)caC>caT	p.H671H	BCAR3_ENST00000260502.6_Silent_p.H671H|BCAR3_ENST00000370243.1_Silent_p.H671H|BCAR3_ENST00000539242.1_Silent_p.H347H|BCAR3_ENST00000370247.3_Silent_p.H580H	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	671	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GGGTGTACTGGTGCCGCAGAG	0.488000													19	75					0	0	0.000586117	0	0
RP1L1	94137	broad.mit.edu	37	8	10467464	10467464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:10467464C>T	ENST00000382483.3	-	4	4367	c.4144G>A	c.(4144-4146)Gaa>Aaa	p.E1382K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1382					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGTCCTCCTTCTGGCCCTTCT	0.522000													19	203					0	0	0.00152264	0	0
ADCY7	113	broad.mit.edu	37	16	50346815	50346815	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:50346815G>A	ENST00000394697.2	+	22	2959	c.2619G>A	c.(2617-2619)caG>caA	p.Q873Q	ADCY7_ENST00000254235.3_Silent_p.Q873Q			P51828	ADCY7_HUMAN	adenylate cyclase 7	873					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GGTACCATCAGTCCTATGACT	0.547000													8	73					0	0	0.000442599	0	0
PCCA	5095	broad.mit.edu	37	13	100807254	100807254	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:100807254G>A	ENST00000376285.1	+	5	360	c.322G>A	c.(322-324)Gag>Aag	p.E108K	PCCA_ENST00000376286.4_Missense_Mutation_p.E82K|PCCA_ENST00000376279.3_Missense_Mutation_p.E108K|PCCA_ENST00000485946.1_3'UTR	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	108	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	AATGGCGGATGAGGCTGTCTG	0.463000													14	160					0	0	0.000958276	0	0
SCN1A	6323	broad.mit.edu	37	2	166900401	166900401	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:166900401G>A	ENST00000423058.2	-	11	1838	c.1821C>T	c.(1819-1821)tcC>tcT	p.S607S	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Silent_p.S607S|SCN1A_ENST00000303395.4_Silent_p.S607S|SCN1A_ENST00000375405.3_Silent_p.S607S|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	607						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GCACAAACAAGGAATCTCTAC	0.527000													5	26					0	0	0.000602214	0	0
FAM83B	222584	broad.mit.edu	37	6	54805191	54805191	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:54805191C>T	ENST00000306858.7	+	5	1538	c.1422C>T	c.(1420-1422)atC>atT	p.I474I		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	474										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ATAACCATATCCGCTTTTTGC	0.408000													11	48					0	0	0.00136819	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373975	86373975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:86373975C>T	ENST00000604798.1	-	8	1733	c.529G>A	c.(529-531)Gag>Aag	p.E177K	MGAT4C_ENST00000552808.2_Missense_Mutation_p.E177K|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000548651.1_Missense_Mutation_p.E177K|MGAT4C_ENST00000332156.1_Missense_Mutation_p.E177K|MGAT4C_ENST00000393205.2_Missense_Mutation_p.E206K|MGAT4C_ENST00000549405.2_Missense_Mutation_p.E177K			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	177					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GGGTAATACTCCTCTGGAGCA	0.378000													16	59					0	0	0.000958276	0	0
CCDC180	100499483	broad.mit.edu	37	9	100119947	100119947	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:100119947C>T	ENST00000375202.2	+	39	4787	c.3435C>T	c.(3433-3435)ttC>ttT	p.F1145F	CCDC180_ENST00000357054.1_Silent_p.F1116F|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Silent_p.F1145F					coiled-coil domain containing 180																		GATTAAATTTCTCTCTGCAAC	0.358000													26	206					0	0	0.00283554	0	0
TMEM173	340061	broad.mit.edu	37	5	138858010	138858010	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:138858010G>A	ENST00000330794.4	-	6	937	c.604C>T	c.(604-606)Ctc>Ttc	p.L202F		NM_198282.2	NP_938023.1	Q86WV6	TM173_HUMAN	transmembrane protein 173	202					activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCCAATGGGAGGAGAATATAC	0.562000													10	98					0	0	0.000978159	0	0
TRIM36	55521	broad.mit.edu	37	5	114515705	114515705	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:114515705A>T	ENST00000282369.3	-	1	151	c.30T>A	c.(28-30)ttT>ttA	p.F10L	TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000379618.2_Missense_Mutation_p.F10L|TRIM36_ENST00000379617.2_Missense_Mutation_p.F10L	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	10						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TGATGTAGCCAAATTCACTCA	0.552000													10	117					0	0	0.00136819	0	0
NCAPG2	54892	broad.mit.edu	37	7	158439232	158439232	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:158439232G>A	ENST00000409339.3	-	25	3212	c.3099C>T	c.(3097-3099)acC>acT	p.T1033T	NCAPG2_ENST00000449727.2_Silent_p.T1033T|NCAPG2_ENST00000541468.1_Silent_p.T487T|NCAPG2_ENST00000275830.10_Silent_p.T778T|NCAPG2_ENST00000409423.1_Silent_p.T1033T|NCAPG2_ENST00000356309.3_Silent_p.T1033T			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	1033					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GCTCTGGAGGGGTAAGCTCTT	0.363000													8	50					0	0	0.000442599	0	0
LRP2	4036	broad.mit.edu	37	2	170139449	170139449	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:170139449G>A	ENST00000263816.3	-	10	1390	c.1105C>T	c.(1105-1107)Cac>Tac	p.H369Y	LRP2_ENST00000443831.1_Missense_Mutation_p.H369Y	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	369	EGF-like 2.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGGCACAGGTGACGGCCAGGT	0.438000													9	170					0	0	0.000978159	0	0
DMXL1	1657	broad.mit.edu	37	5	118533521	118533521	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:118533521C>T	ENST00000311085.8	+	32	7695	c.7615C>T	c.(7615-7617)Cga>Tga	p.R2539*	DMXL1_ENST00000539542.1_Nonsense_Mutation_p.R2539*	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2539										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)		AGTTCTTCTCCGACGACTTGA	0.433000													18	89					0	0	0.00152264	0	0
DLG5	9231	broad.mit.edu	37	10	79566529	79566529	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:79566529G>A	ENST00000372391.2	-	26	4959	c.4954C>T	c.(4954-4956)Ccc>Tcc	p.P1652S	DLG5_ENST00000372388.2_Missense_Mutation_p.P1312S|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1652	SH3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TATTTGCTGGGAATCTGCCCG	0.642000													7	54					0	0	0.000442599	0	0
GSTA5	221357	broad.mit.edu	37	6	52701057	52701057	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:52701057C>T	ENST00000370989.1	-	4	407	c.249G>A	c.(247-249)ggG>ggA	p.G83G	GSTA5_ENST00000475052.1_Intron|GSTA5_ENST00000284562.2_Silent_p.G83G			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	83	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TCATGTCTTTCCCATAAAGGT	0.448000													13	155					0	0	0.000308642	0	0
FAM154B	283726	broad.mit.edu	37	15	82574637	82574637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:82574637C>T	ENST00000339465.5	+	3	500	c.431C>T	c.(430-432)cCt>cTt	p.P144L	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.P129L	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	144										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TCTACAGCCCCTTTTAATGGT	0.398000													19	149					0	0	0.00278032	0	0
COL12A1	1303	broad.mit.edu	37	6	75811327	75811327	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:75811327G>A	ENST00000322507.8	-	58	8821	c.8512C>T	c.(8512-8514)Cca>Tca	p.P2838S	COL12A1_ENST00000345356.6_Missense_Mutation_p.P1674S|COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000416123.2_Missense_Mutation_p.P2762S|COL12A1_ENST00000483888.2_Missense_Mutation_p.P2838S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2838	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTGTCTCCTGGAGGTCCCATT	0.433000													9	50					0	0	0.00136819	0	0
REN	5972	broad.mit.edu	37	1	204125862	204125862	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:204125862C>T	ENST00000367195.2	-	6	795	c.752G>A	c.(751-753)gGg>gAg	p.G251E	REN_ENST00000272190.8_Missense_Mutation_p.G254E			P00797	RENI_HUMAN	renin	254					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GTGGAAATTCCCTTCGTAATG	0.502000													7	43					0	0	0.000157383	0	0
ALOX15	246	broad.mit.edu	37	17	4540554	4540554	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:4540554C>T	ENST00000570836.1	-	8	904		c.e8-1		ALOX15_ENST00000293761.3_Splice_Site|ALOX15_ENST00000574640.1_Splice_Site|ALOX15_ENST00000545513.1_Splice_Site			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase						inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	GTGTGCCTCCCTGGGTGGGGG	0.552000													4	30					0	0	0.00024832	0	0
IZUMO1	284359	broad.mit.edu	37	19	49248954	49248954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:49248954C>T	ENST00000332955.2	-	2	710	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	55					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TCTACCCTTTCCATCATGGCT	0.547000													11	79					0	0	0.00185496	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739142	15739142	+	RNA	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:15739142C>T	ENST00000441682.2	+	0	1207							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCTTCCTGACCATGTGCCTGA	0.617000													6	84					0	0	0.00198382	0	0
NDST3	9348	broad.mit.edu	37	4	118976014	118976014	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:118976014G>A	ENST00000296499.5	+	2	1352	c.949G>A	c.(949-951)Gag>Aag	p.E317K	NDST3_ENST00000433996.2_Missense_Mutation_p.E317K	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	317	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TGTGGGAAAAGAGGGAACAAG	0.398000													5	28					0	0	0.000602214	0	0
PLA2G2F	64600	broad.mit.edu	37	1	20469973	20469973	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:20469973G>A	ENST00000375102.3	+	3	306	c.204G>A	c.(202-204)ctG>ctA	p.L68L		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	25					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		TGCTCAACCTGAAGGCCATGG	0.667000													6	70					0	0	0.00198382	0	0
OR2T11	127077	broad.mit.edu	37	1	248789896	248789896	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:248789896G>A	ENST00000330803.2	-	1	595	c.534C>T	c.(532-534)atC>atT	p.I178I		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAACTGCTGGGATCTCACAGA	0.498000													12	29					0	0	0.00185496	0	0
C3	718	broad.mit.edu	37	19	6694599	6694599	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:6694599C>T	ENST00000245907.6	-	24	3089	c.2997G>A	c.(2995-2997)cgG>cgA	p.R999R		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	999					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)		GGTGCTTCAGCCGTTCCGCGT	0.622000													6	36					0	0	0.00198382	0	0
MIA3	375056	broad.mit.edu	37	1	222803707	222803707	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:222803707G>A	ENST00000344922.5	+	4	3170	c.3145G>A	c.(3145-3147)Gaa>Aaa	p.E1049K	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.E1049K	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1049					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ACCTCTAGAGGAAGGCTTGGG	0.537000													12	191					0	0	0.000958276	0	0
CRX	1406	broad.mit.edu	37	19	48342765	48342765	+	Silent	SNP	C	C	T	rs147422878		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:48342765C>T	ENST00000221996.7	+	4	647	c.441C>T	c.(439-441)ccC>ccT	p.P147P	CRX_ENST00000539067.1_Silent_p.P147P|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	147			Missing (in LCA7).		organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CCCCTCTGCCCGGCCCCTCAG	0.672000													8	45					0	0	0.000673444	0	0
ARMC4	55130	broad.mit.edu	37	10	28229653	28229653	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:28229653G>A	ENST00000305242.5	-	13	1917	c.1825C>T	c.(1825-1827)Cgc>Tgc	p.R609C	ARMC4_ENST00000545014.1_Missense_Mutation_p.R134C|ARMC4_ENST00000537576.1_Missense_Mutation_p.R301C	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	609							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GCCCCACAGCGAGCCACTTCC	0.507000													6	58					0	0	0.00198382	0	0
CTAGE6	340307	broad.mit.edu	37	7	143453518	143453518	+	Missense_Mutation	SNP	C	C	T	rs17855659		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:143453518C>T	ENST00000470691.2	-	1	1271	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K		NM_178561.4	NP_848656.2			CTAGE family, member 6													Melanoma(164;0.0903)					TTCTCTTCTTCCTCTATTCGG	0.373000													26	172					0	0	0.000720815	0	0
PTPN6	5777	broad.mit.edu	37	12	7065716	7065716	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:7065716G>A	ENST00000456013.1	+	9	1301	c.1059G>A	c.(1057-1059)gaG>gaA	p.E353E	PTPN6_ENST00000318974.9_Silent_p.E353E|PTPN6_ENST00000447931.2_Silent_p.E314E|PTPN6_ENST00000399448.1_Silent_p.E355E	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	353	Tyrosine-protein phosphatase.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CCACCCGAGAGGTGGAGAAAG	0.622000													13	49					0	0	0.00244969	0	0
CDK18	5129	broad.mit.edu	37	1	205497008	205497008	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:205497008C>T	ENST00000360066.2	+	9	1117	c.816C>T	c.(814-816)ctC>ctT	p.L272L	CDK18_ENST00000506784.1_Silent_p.L302L|CDK18_ENST00000429964.2_Silent_p.L272L|CDK18_ENST00000509056.1_3'UTR	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	270	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						AGAACCTGCTCATCAACGAGA	0.642000													7	51					0	0	0.00198382	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174749	150174749	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:150174749G>A	ENST00000307271.3	+	5	2453	c.1879G>A	c.(1879-1881)Gaa>Aaa	p.E627K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	627						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TCTGAGAAAAGAAAGTGGGTG	0.443000													16	94					0	0	0.000566183	0	0
SNRK	54861	broad.mit.edu	37	3	43381843	43381843	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:43381843C>T	ENST00000296088.7	+	5	1100	c.796C>T	c.(796-798)Cat>Tat	p.H266Y	SNRK_ENST00000437827.1_Missense_Mutation_p.H60Y|SNRK_ENST00000454177.1_Missense_Mutation_p.H266Y|SNRK_ENST00000429705.2_Missense_Mutation_p.H266Y	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	266	Protein kinase.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GATTGAAAATCATCCTTGGCT	0.438000													13	125					0	0	0.00185496	0	0
OSTN	344901	broad.mit.edu	37	3	190967863	190967863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:190967863C>T	ENST00000339051.1	+	3	355	c.355C>T	c.(355-357)Ccc>Tcc	p.P119S	OSTN_ENST00000445281.1_Intron	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	osteocrin	119					cell differentiation|multicellular organismal development|ossification		hormone activity			kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		ATTTGGTATCCCCATGGATCG	0.353000													7	145					0	0	0.000157383	0	0
HIST1H1T	3010	broad.mit.edu	37	6	26107780	26107780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:26107780C>T	ENST00000338379.4	-	1	584	c.542G>A	c.(541-543)aGc>aAc	p.S181N		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	181					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CTTCACTGGGCTCTTCTGCTG	0.473000													15	155					0	0	0.000308642	0	0
CXorf23	256643	broad.mit.edu	37	X	19984628	19984628	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:19984628G>A	ENST00000379687.3	-	2	214	c.181C>T	c.(181-183)Cca>Tca	p.P61S	CXorf23_ENST00000356980.3_Missense_Mutation_p.P61S|CXorf23_ENST00000379682.4_Missense_Mutation_p.P61S	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	61						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						GGAATCCTTGGTTTACTCTGT	0.393000													30	65					0	0	0.00111076	0	0
MKX	283078	broad.mit.edu	37	10	28023495	28023495	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:28023495C>T	ENST00000375790.5	-	5	1160	c.728G>A	c.(727-729)gGa>gAa	p.G243E	MKX_ENST00000419761.1_Missense_Mutation_p.G243E			Q8IYA7	MKX_HUMAN	mohawk homeobox	243					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CCTTGTTTTTCCCATCATGGT	0.448000													11	85					0	0	0.000673444	0	0
ZNF554	115196	broad.mit.edu	37	19	2833880	2833880	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:2833880C>T	ENST00000317243.5	+	5	845	c.647C>T	c.(646-648)gCt>gTt	p.A216V	ZNF554_ENST00000591265.1_3'UTR	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		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)		CAGGAGAAGGCTACTGCATGG	0.527000													5	69					0	0	0.000602214	0	0
ZKSCAN4	387032	broad.mit.edu	37	6	28213461	28213461	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:28213461G>A	ENST00000377294.2	-	5	1314	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	ZKSCAN4_ENST00000423974.2_Silent_p.F202F	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	357					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						AGCTCCCAATGAAGGTCTTTC	0.458000													25	55					0	0	0.00127121	0	0
ATL1	51062	broad.mit.edu	37	14	51087425	51087425	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:51087425G>A	ENST00000441560.2	+	10	1452	c.971G>A	c.(970-972)gGt>gAt	p.G324D	ATL1_ENST00000358385.6_Missense_Mutation_p.G324D|ATL1_ENST00000357032.3_Missense_Mutation_p.G324D|ATL1_ENST00000354525.4_Missense_Mutation_p.G324D	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	324					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						ACCTGCCGGGGTCTGGTGGAG	0.368000													12	59					0	0	0.00244969	0	0
GABRG2	2566	broad.mit.edu	37	5	161580306	161580306	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:161580306C>T	ENST00000356592.3	+	10	1820	c.1360C>T	c.(1360-1362)Cgg>Tgg	p.R454W	GABRG2_ENST00000361925.4_Missense_Mutation_p.R446W|GABRG2_ENST00000414552.2_Missense_Mutation_p.R494W|GABRG2_ENST00000393933.4_Missense_Mutation_p.R351W	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	446					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CTCCTATGCTCGGATCTTCTT	0.463000													12	97					0	0	0.000308642	0	0
HYDIN	54768	broad.mit.edu	37	16	70889118	70889118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:70889118G>A	ENST00000393567.2	-	73	12506	c.12356C>T	c.(12355-12357)tCc>tTc	p.S4119F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4119								p.S4070F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GTCCTGGAAGGAAAAATCGAA	0.527000													9	46					0	0	0.000978159	0	0
SUN1	23353	broad.mit.edu	37	7	883119	883119	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:883119C>T	ENST00000456758.2	+	8	794	c.794C>T	c.(793-795)cCc>cTc	p.P265L	SUN1_ENST00000401592.1_Missense_Mutation_p.P207L|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000403868.1_Missense_Mutation_p.P207L|SUN1_ENST00000405266.1_Missense_Mutation_p.P207L|SUN1_ENST00000425407.2_Missense_Mutation_p.P157L|SUN1_ENST00000457378.2_Missense_Mutation_p.P228L|SUN1_ENST00000389574.3_Missense_Mutation_p.P157L			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	207	EMD-binding.|SYNE2-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCCCCGGGCCCGTGTCGAGA	0.547000													6	201					0	0	0.00116845	0	0
RIT2	6014	broad.mit.edu	37	18	40323527	40323527	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:40323527C>T	ENST00000326695.5	-	5	756	c.585G>A	c.(583-585)ctG>ctA	p.L195L	RIT2_ENST00000590910.1_3'UTR|RIT2_ENST00000589109.1_3'UTR	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	195					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTTTCTCTTCAGTTTCTTTT	0.423000													10	104					0	0	0.000978159	0	0
CFB	629	broad.mit.edu	37	6	31901440	31901440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:31901440C>T	ENST00000456570.1	+	3	365	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	C2_ENST00000452323.2_Missense_Mutation_p.R43C|C2_ENST00000442278.2_Missense_Mutation_p.R34C|C2_ENST00000469372.1_5'UTR|CFB_ENST00000556679.1_Missense_Mutation_p.R104C|C2_ENST00000299367.5_Missense_Mutation_p.R166C|CFB_ENST00000477310.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.R166C			P00751	CFAB_HUMAN	complement factor B	180	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GACAGGCTTCCGCTTTGGTCA	0.627000													33	120					0	0	0.00170553	0	0
FAM26F	441168	broad.mit.edu	37	6	116784674	116784674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:116784674C>T	ENST00000368605.1	+	3	849	c.754C>T	c.(754-756)Cca>Tca	p.P252S	RP1-93H18.6_ENST00000476099.1_RNA|FAM26F_ENST00000368606.3_Missense_Mutation_p.P80S	NM_001010919.1	NP_001010919.1	Q5R3K3	FA26F_HUMAN	family with sequence similarity 26, member F	252						integral to membrane				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		ATATAACACTCCAAGCATGAA	0.388000													28	131					0	0	0.00209593	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54925476	54925476	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:54925476C>T	ENST00000474759.1	+	25	2293	c.2246_splice	c.e25+1	p.Q749_splice	CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000490478.1_Splice_Site_p.Q655_splice|CACNA2D3_ENST00000288197.5_Splice_Site_p.Q749_splice|CACNA2D3_ENST00000415676.2_Splice_Site_p.Q749_splice	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	749						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GCTCACCAATCAGTAAGTAGG	0.502000													6	27					0	0	0.00116845	0	0
ZNF142	7701	broad.mit.edu	37	2	219508926	219508926	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:219508926G>A	ENST00000411696.2	-	7	3092	c.2313C>T	c.(2311-2313)tcC>tcT	p.S771S	ZNF142_ENST00000449707.1_Silent_p.S771S			P52746	ZN142_HUMAN	zinc finger protein 142	771					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCTCCTCTAAGGATGGAGGAT	0.493000													11	84					0	0	0.000673444	0	0
DCLK3	85443	broad.mit.edu	37	3	36779527	36779527	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:36779527C>T	ENST00000416516.2	-	2	1114	c.624G>A	c.(622-624)agG>agA	p.R208R		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	208						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GAGTGGGATTCCTGGGGCTGC	0.587000													5	54					0	0	0.00198382	0	0
HCFC1	3054	broad.mit.edu	37	X	153222905	153222905	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:153222905G>A	ENST00000310441.7	-	13	3179	c.2213C>T	c.(2212-2214)aCc>aTc	p.T738I	HCFC1_ENST00000369984.4_Missense_Mutation_p.T738I|HCFC1_ENST00000354233.3_Missense_Mutation_p.T669I	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	738					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTGCGTGGTAGTGATGAT	0.627000													15	24					0	0	0.000422831	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515917	140515917	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140515917C>T	ENST00000231134.5	+	1	1118	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		301	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCAGAAATTCGCCTGAAAAG	0.438000													16	127					0	0	0.00074312	0	0
PIWIL1	9271	broad.mit.edu	37	12	130841563	130841563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:130841563G>A	ENST00000245255.3	+	13	1777	c.1505G>A	c.(1504-1506)cGa>cAa	p.R502Q		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	502					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATCTATACGCGAAGAAATTAT	0.348000													7	40					0	0	0.00198382	0	0
FBLIM1	54751	broad.mit.edu	37	1	16095092	16095092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:16095092C>T	ENST00000375766.3	+	5	1148	c.508C>T	c.(508-510)Ccg>Tcg	p.P170S	FBLIM1_ENST00000332305.5_Intron|FBLIM1_ENST00000441801.2_Missense_Mutation_p.P170S|FBLIM1_ENST00000375771.1_Missense_Mutation_p.P170S|FBLIM1_ENST00000400773.1_Intron	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	170	Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GCCACCTCCCCCGGCAGAACC	0.632000													6	34					0	0	0.00198382	0	0
MAP3K19	80122	broad.mit.edu	37	2	135743891	135743891	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:135743891G>A	ENST00000375845.3	-	7	2581	c.2551C>T	c.(2551-2553)Cct>Tct	p.P851S	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.P868S|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P738S|MAP3K19_ENST00000315513.3_5'UTR	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		TCTTCTGAAGGGATAAATGGG	0.418000													12	101					0	0	0.00136819	0	0
HGD	3081	broad.mit.edu	37	3	120352175	120352175	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:120352175C>T	ENST00000283871.5	-	13	1466	c.1006_splice	c.e13-1	p.R336_splice		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	336					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CATGCAGTTCCCTGGGAAGGT	0.468000													22	100					0	0	0.00047179	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040889	147040889	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:147040889C>T	ENST00000265272.5	-	3	716	c.249G>A	c.(247-249)aaG>aaA	p.K83K	JAKMIP2_ENST00000507386.1_Silent_p.K83K|JAKMIP2_ENST00000333010.6_Silent_p.K41K	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	83						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCAGCTCCTTCATCTTCT	0.532000													10	126					0	0	0.000673444	0	0
OR5M11	219487	broad.mit.edu	37	11	56310098	56310098	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:56310098G>A	ENST00000528616.2	-	1	659	c.636C>T	c.(634-636)atC>atT	p.I212I		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						ACACCAAGACGATGGTGAGGG	0.502000													7	29					0	0	0.000157383	0	0
TG	7038	broad.mit.edu	37	8	133984964	133984964	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:133984964C>T	ENST00000220616.4	+	34	6217	c.6177C>T	c.(6175-6177)ccC>ccT	p.P2059P	TG_ENST00000542445.1_Silent_p.P429P|TG_ENST00000519543.1_Silent_p.P213P|TG_ENST00000522523.1_3'UTR|TG_ENST00000377869.1_Silent_p.P2002P	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2059					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACACCTATCCCTTCGGATGGT	0.473000													10	90					0	0	0.000442599	0	0
PML	5371	broad.mit.edu	37	15	74328022	74328022	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:74328022C>T	ENST00000268059.6	+	8	2316	c.2220C>T	c.(2218-2220)tcC>tcT	p.S740S	PML_ENST00000569965.1_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000564428.1_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000563500.1_3'UTR|PML_ENST00000268058.3_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000354026.6_Silent_p.S692S	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	0					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GGGGCTCCTCCCATTTATCCC	0.622000			T	"""RARA, PAX5"""	"""APL, ALL"""								7	58					0	0	0.000274275	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86844860	86844860	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:86844860C>A	ENST00000395184.1	+	4	794	c.328C>A	c.(328-330)Cag>Aag	p.Q110K	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.Q15K|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.Q110K	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	110	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GGCAAGCACCCAGAATGATAT	0.468000													5	26					0.00116845	0.00505107	0.00116845	1	0
TIGIT	201633	broad.mit.edu	37	3	114014392	114014392	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:114014392G>A	ENST00000481065.1	+	3	2878	c.262_splice	c.e3-1	p.G88_splice	TIGIT_ENST00000486257.1_Splice_Site_p.G21_splice|TIGIT_ENST00000383671.3_Splice_Site_p.G21_splice			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	21	Ig-like V-type.				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						TCTTCCCTAGGAATGATGACA	0.493000													17	121					0	0	0.00278032	0	0
CYTIP	9595	broad.mit.edu	37	2	158287384	158287384	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:158287384C>T	ENST00000264192.3	-	4	491	c.370G>A	c.(370-372)Ggc>Agc	p.G124S	CYTIP_ENST00000540637.1_Missense_Mutation_p.G18S|CYTIP_ENST00000497432.1_5'UTR	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	124	PDZ.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						GCTTGCAGGCCAGCACAGTGA	0.398000													4	39					0	0	0.000602214	0	0
RNF19B	127544	broad.mit.edu	37	1	33408031	33408031	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:33408031G>A	ENST00000356990.5	-	7	1431	c.1432C>T	c.(1432-1434)Ccc>Tcc	p.P478S	RNF19B_ENST00000373456.7_Missense_Mutation_p.P479S|RNF19B_ENST00000235150.4_Missense_Mutation_p.P478S	NM_001127361.1	NP_001120833.1	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	479						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCAATGCTGGGATTCTTGAGG	0.483000													5	43					0	0	0.00116845	0	0
CSMD3	114788	broad.mit.edu	37	8	113662516	113662516	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:113662516C>A	ENST00000297405.5	-	19	3311	c.3067G>T	c.(3067-3069)Ggt>Tgt	p.G1023C	CSMD3_ENST00000455883.2_Missense_Mutation_p.G919C|CSMD3_ENST00000343508.3_Missense_Mutation_p.G983C|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1023C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1023	Sushi 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAATCATGACCATAGCGACGG	0.433000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	111					5.18039e-06	2.26057e-05	0.000157383	1	0
INSRR	3645	broad.mit.edu	37	1	156821913	156821913	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:156821913G>A	ENST00000368195.3	-	3	1104	c.708C>T	c.(706-708)ggC>ggT	p.G236G	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	236					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTGGCTGCAGCCCCCCAGGC	0.657000													11	17					0	0	0.00244969	0	0
SPTA1	6708	broad.mit.edu	37	1	158639326	158639326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:158639326C>T	ENST00000368148.3	-	14	1885	c.1705G>A	c.(1705-1707)Gaa>Aaa	p.E569K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E569K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	569					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)					GCAGCCTTTTCACGTAGGGCA	0.468000													8	78					0	0	0.000274275	0	0
TG	7038	broad.mit.edu	37	8	134108506	134108506	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:134108506C>T	ENST00000220616.4	+	43	7501	c.7461C>T	c.(7459-7461)ttC>ttT	p.F2487F	SLA_ENST00000338087.5_Intron|TG_ENST00000542445.1_Silent_p.F857F|SLA_ENST00000395352.3_Intron|SLA_ENST00000524345.1_Intron|TG_ENST00000519543.1_Silent_p.F620F|SLA_ENST00000517648.1_Intron|SLA_ENST00000518565.1_Intron|TG_ENST00000377869.1_Silent_p.F2430F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2487					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATGGCCACTTCCTCCGTGAGC	0.532000													15	141					0	0	0.00244969	0	0
TNNI3K	51086	broad.mit.edu	37	1	74929184	74929184	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:74929184C>T	ENST00000370891.2	+	23	2390	c.2374C>T	c.(2374-2376)Ccc>Tcc	p.P792S	TNNI3K_ENST00000326637.3_Missense_Mutation_p.P691S|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.P792S|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.P792S	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						CTATTCCATTCCCAAGCCCAT	0.443000													17	134					0	0	0.000958276	0	0
CHST1	8534	broad.mit.edu	37	11	45672010	45672010	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:45672010C>T	ENST00000308064.2	-	4	1134	c.464G>A	c.(463-465)gGg>gAg	p.G155E		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	155					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CCGGCTGGCCCCGCGGCGGAA	0.682000													12	53					0	0	0.00185496	0	0
ACSL5	51703	broad.mit.edu	37	10	114176675	114176675	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:114176675G>A	ENST00000393081.1	+	13	1420	c.1113G>A	c.(1111-1113)aaG>aaA	p.K371K	ACSL5_ENST00000369410.3_Silent_p.K153K|ACSL5_ENST00000433418.1_Silent_p.K371K|ACSL5_ENST00000356116.1_Silent_p.K427K|ACSL5_ENST00000354655.4_Silent_p.K371K|ACSL5_ENST00000354273.4_Silent_p.K371K|RP11-324O2.6_ENST00000424422.1_RNA	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	371					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CACCCTTGAAGAAGTTCTTGT	0.413000													7	82					0	0	0.000157383	0	0
JMJD1C	221037	broad.mit.edu	37	10	64966362	64966362	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:64966362G>A	ENST00000399262.2	-	10	5285	c.5067C>T	c.(5065-5067)aaC>aaT	p.N1689N	JMJD1C_ENST00000542921.1_Silent_p.N1507N|JMJD1C_ENST00000402544.1_Silent_p.N1470N|JMJD1C_ENST00000399251.1_Silent_p.N1470N	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1689					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TACTATTACTGTTGCTTTGCA	0.363000													10	69					0	0	0.00185496	0	0
COL24A1	255631	broad.mit.edu	37	1	86375671	86375671	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:86375671G>A	ENST00000370571.2	-	26	2998	c.2632C>T	c.(2632-2634)Cca>Tca	p.P878S	COL24A1_ENST00000436319.1_Missense_Mutation_p.P878S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	878	Collagen-like 6.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AGTGGGCCTGGACTTCCACGT	0.388000													15	91					0	0	0.00121646	0	0
IGSF21	84966	broad.mit.edu	37	1	18691827	18691827	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:18691827C>T	ENST00000251296.1	+	6	1034	c.651C>T	c.(649-651)caC>caT	p.H217H		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	217						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GCCTTCTGCACCGTGACCTGG	0.652000													5	41					0	0	0.000602214	0	0
CPED1	79974	broad.mit.edu	37	7	120935617	120935617	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:120935617C>T	ENST00000310396.5	+	23	3459	c.2992C>T	c.(2992-2994)Cga>Tga	p.R998*		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		AACAAATTTTCGATCGCCATA	0.358000													27	59					0	0	0.000720815	0	0
ABCC3	8714	broad.mit.edu	37	17	48741198	48741198	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:48741198C>T	ENST00000285238.8	+	9	1235	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	ABCC3_ENST00000427699.1_Silent_p.I385I	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	385	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GTACTGGGATCATGGGTGTCA	0.552000													8	28					0	0	0.000673444	0	0
PBX3	5090	broad.mit.edu	37	9	128722988	128722988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:128722988G>A	ENST00000373487.4	+	7	1012	c.932G>A	c.(931-933)cGa>cAa	p.R311Q	PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000373489.5_Missense_Mutation_p.R290Q|PBX3_ENST00000373483.2_Missense_Mutation_p.R109Q|PBX3_ENST00000342287.5_Missense_Mutation_p.R290Q|PBX3_ENST00000447726.2_Missense_Mutation_p.R215Q			P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	290					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						GGCAACAAACGAATCAGGTAC	0.473000													8	33					0	0	0.000274275	0	0
ZNF211	10520	broad.mit.edu	37	19	58153435	58153435	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:58153435C>T	ENST00000544273.1	+	5	1944	c.1617C>T	c.(1615-1617)caC>caT	p.H539H	ZNF211_ENST00000391703.3_Silent_p.H466H|ZNF211_ENST00000254182.7_Silent_p.H518H|ZNF211_ENST00000541801.1_Silent_p.H518H|ZNF211_ENST00000420680.1_Silent_p.H531H|ZNF211_ENST00000299871.5_Silent_p.H592H|ZNF211_ENST00000240731.4_Silent_p.H540H|ZNF211_ENST00000347302.3_Silent_p.H527H			Q13398	ZN211_HUMAN	zinc finger protein 211	527						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCATTCAACACCGCAGAGTTC	0.453000													12	52					0	0	0.00136819	0	0
LTN1	26046	broad.mit.edu	37	21	30303532	30303532	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:30303532G>A	ENST00000361371.4	-	29	5333	c.5183C>T	c.(5182-5184)tCc>tTc	p.S1728F	LTN1_ENST00000389194.2_Missense_Mutation_p.S1774F	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1728							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						TTTGGGAAGGGAATAGTTGAA	0.343000													7	112					0	0	0.000274275	0	0
VDR	7421	broad.mit.edu	37	12	48249476	48249476	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:48249476G>A	ENST00000229022.3	-	8	973	c.692C>T	c.(691-693)gCt>gTt	p.A231V	VDR_ENST00000550325.1_Missense_Mutation_p.A281V|VDR_ENST00000549336.1_Missense_Mutation_p.A231V|VDR_ENST00000395324.2_Missense_Mutation_p.A231V|VDR_ENST00000535672.1_Missense_Mutation_p.A199V	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	231	Ligand-binding.|Vitamin D3 binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GACCAGGTCAGCCAGGTGGGG	0.502000													11	48					0	0	0.00185496	0	0
SMARCC1	6599	broad.mit.edu	37	3	47755909	47755909	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:47755909C>T	ENST00000254480.5	-	8	907	c.788G>A	c.(787-789)tGg>tAg	p.W263*	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	263					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)		ATTTACCTTCCATGGTTTTTC	0.343000													15	156					0	0	0.000422831	0	0
TIAM1	7074	broad.mit.edu	37	21	32513747	32513747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:32513747G>A	ENST00000286827.3	-	22	4022	c.3551C>T	c.(3550-3552)tCg>tTg	p.S1184L	TIAM1_ENST00000541036.1_Missense_Mutation_p.S1124L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1184	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GATGAGGTACGACTCCAGCGT	0.567000													13	104					0	0	0.000566183	0	0
FOXD4L1	200350	broad.mit.edu	37	2	114257232	114257232	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:114257232C>T	ENST00000306507.5	+	1	572	c.399C>T	c.(397-399)atC>atT	p.I133I		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	133					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						TCAGCGGCATCTGCGCCTTCA	0.627000													12	201					0	0	0.00074312	0	0
OR10K2	391107	broad.mit.edu	37	1	158390471	158390471	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:158390471G>A	ENST00000314902.2	-	1	185	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GGATGGCAAGGAAGAAGTACA	0.483000													14	26					0	0	0.000422831	0	0
COL20A1	57642	broad.mit.edu	37	20	61956823	61956823	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:61956823G>A	ENST00000422202.1	+	27	3414	c.3346G>A	c.(3346-3348)Gac>Aac	p.D1116N	COL20A1_ENST00000326996.6_Missense_Mutation_p.D1141N|COL20A1_ENST00000435874.1_Missense_Mutation_p.D1116N|COL20A1_ENST00000358894.6_Missense_Mutation_p.D1109N			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1109	Collagen-like 1.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					AGAGAAGGGAGACCATGGGCT	0.667000													9	48					0	0	0.00244969	0	0
CXCL9	4283	broad.mit.edu	37	4	76928573	76928573	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:76928573C>A	ENST00000264888.5	-	1	68	c.30G>T	c.(28-30)ttG>ttT	p.L10F		NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	10					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGATGATGCCCAAGAGGAAAA	0.393000													9	131					0.000978159	0.00424055	0.000978159	1	0
DYNC1I1	1780	broad.mit.edu	37	7	95664990	95664990	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:95664990C>T	ENST00000324972.6	+	13	1534	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000437599.1_Silent_p.F427F|DYNC1I1_ENST00000447467.2_Silent_p.F430F|DYNC1I1_ENST00000359388.4_Silent_p.F410F|DYNC1I1_ENST00000537881.1_Silent_p.F410F|DYNC1I1_ENST00000457059.1_Silent_p.F430F	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	447					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GAATGGCTTTCCCAACGGGAG	0.478000													18	70					0	0	0.00074312	0	0
APOB	338	broad.mit.edu	37	2	21228381	21228381	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:21228381G>C	ENST00000233242.1	-	26	11486	c.11359C>G	c.(11359-11361)Ccc>Gcc	p.P3787A		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3787					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTACCTCGGGGAGTGTTGGT	0.398000													42	272					0	0	0.000781405	0	0
NAALAD2	10003	broad.mit.edu	37	11	89911136	89911136	+	Missense_Mutation	SNP	G	G	A	rs150474449		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:89911136G>A	ENST00000534061.1	+	16	1939	c.1709G>A	c.(1708-1710)cGa>cAa	p.R570Q	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.R537Q	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	570	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GCTCAATTACGAGGAGCACTG	0.348000													6	62					0	0	0.000157383	0	0
CNGA4	1262	broad.mit.edu	37	11	6260704	6260704	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:6260704C>T	ENST00000379936.2	+	2	268	c.153C>T	c.(151-153)atC>atT	p.I51I	CNGA4_ENST00000533426.1_Silent_p.I11I	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	51					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTCATCATCCTCGTGTGCA	0.532000													19	113					0	0	0.000958276	0	0
SBF1	6305	broad.mit.edu	37	22	50899591	50899591	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:50899591G>A	ENST00000380817.2	-	23	3147	c.2964C>T	c.(2962-2964)ttC>ttT	p.F988F	SBF1_ENST00000390679.3_Silent_p.F988F|SBF1_ENST00000348911.6_Silent_p.F989F	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	988					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCCCCACCTGGAATGTGCAGG	0.637000													5	12					0	0	0.000602214	0	0
SYT7	9066	broad.mit.edu	37	11	61290547	61290547	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:61290547C>T	ENST00000263846.4	-	8	1434	c.1107_splice	c.e8+1	p.K369_splice	SYT7_ENST00000542670.1_Splice_Site_p.K577_splice|SYT7_ENST00000539008.1_Splice_Site_p.K652_splice|SYT7_ENST00000542836.1_Splice_Site_p.K413_splice|SYT7_ENST00000540677.1_Splice_Site_p.K444_splice|SYT7_ENST00000535826.1_Splice_Site_p.K488_splice	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	369	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCGCCCCTACCTTGCCGATGA	0.597000													10	92					0	0	0.000978159	0	0
POLR3A	11128	broad.mit.edu	37	10	79767572	79767572	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:79767572G>A	ENST00000372371.3	-	15	2099	c.1962C>T	c.(1960-1962)acC>acT	p.T654T		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	654					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CTGACCCTAGGGTTCCTTTGT	0.433000													10	97					0	0	0.00244969	0	0
AP1B1	162	broad.mit.edu	37	22	29727502	29727502	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:29727502G>A	ENST00000357586.2	-	19	2646	c.2460C>T	c.(2458-2460)atC>atT	p.I820I	AP1B1_ENST00000402502.1_Silent_p.I813I|AP1B1_ENST00000415447.1_Silent_p.I813I|AP1B1_ENST00000432560.2_Silent_p.I813I|AP1B1_ENST00000356015.2_Silent_p.I813I|AP1B1_ENST00000317368.7_Silent_p.I793I|AP1B1_ENST00000405198.1_Silent_p.I820I|AP1B1_ENST00000472057.1_5'UTR	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	820					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGAAGACATCGATGTTGTTCT	0.577000													8	108					0	0	0.000673444	0	0
RGPD3	653489	broad.mit.edu	37	2	107042456	107042456	+	Silent	SNP	G	G	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:107042456G>T	ENST00000409886.3	-	19	2781	c.2694C>A	c.(2692-2694)ccC>ccA	p.P898P	RGPD3_ENST00000304514.7_Silent_p.P898P	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	898					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTACCTTTGTGGGAGTAACAT	0.313000													7	138					0.00136819	0.00591216	0.00136819	1	0
KIAA1210	57481	broad.mit.edu	37	X	118221191	118221191	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:118221191G>A	ENST00000402510.2	-	11	4001	c.4002C>T	c.(4000-4002)tcC>tcT	p.S1334S		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1334										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CTGAGGCTTGGGAAGAATGTT	0.478000													49	102					0	0	0.000781405	0	0
OR2A5	393046	broad.mit.edu	37	7	143748373	143748373	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:143748373G>A	ENST00000408906.2	+	1	913	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ATAGCCTGAGGAACGCAGAGG	0.527000													7	70					0	0	0.000442599	0	0
STYK1	55359	broad.mit.edu	37	12	10777294	10777294	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:10777294G>A	ENST00000075503.3	-	8	1402	c.882C>T	c.(880-882)gcC>gcT	p.A294A		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	294	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						GCCGTTCTGGGGCAAGCCACT	0.502000										HNSCC(73;0.22)			12	121					0	0	0.000422831	0	0
SRP54-AS1	100506157	broad.mit.edu	37	14	35409455	35409455	+	RNA	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:35409455G>A	ENST00000556355.1	-	0	257				RP11-85K15.2_ENST00000555015.1_RNA																							AGAGGATGATGAACAAACACT	0.493000													8	44					0	0	0.000157383	0	0
LPCAT4	254531	broad.mit.edu	37	15	34656262	34656262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:34656262G>A	ENST00000314891.6	-	5	781	c.604C>T	c.(604-606)Cct>Tct	p.P202S		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	202					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						GTGCCCTCAGGAAAGAATAGC	0.458000													6	130					0	0	0.000157383	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779006	31779006	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:31779006C>T	ENST00000375654.4	-	2	933	c.744G>A	c.(742-744)aaG>aaA	p.K248K	HSPA1L_ENST00000417199.3_Silent_p.K248K	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	248					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGTGTTTCCTCTTGAACTCCT	0.582000													21	293					0	0	0.00278032	0	0
PPARG	5468	broad.mit.edu	37	3	12458442	12458442	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:12458442C>T	ENST00000397026.2	+	8	1376	c.993C>T	c.(991-993)atC>atT	p.I331I	PPARG_ENST00000397012.2_Silent_p.I325I|PPARG_ENST00000397010.2_Silent_p.I325I|PPARG_ENST00000309576.6_Silent_p.I325I|PPARG_ENST00000397015.2_Silent_p.I325I|PPARG_ENST00000287820.6_Silent_p.I353I|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000539812.1_Intron			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	353	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	TCCACGAGATCATTTACACAA	0.453000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						39	348					0	0	0.00170553	0	0
SNX31	169166	broad.mit.edu	37	8	101624270	101624270	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:101624270C>T	ENST00000311812.2	-	7	719	c.569G>A	c.(568-570)gGa>gAa	p.G190E	SNX31_ENST00000428383.2_Missense_Mutation_p.G91E	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	190					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			CTCAGAACTTCCAAGACTAAC	0.443000													8	96					0	0	0.000442599	0	0
CD163L1	283316	broad.mit.edu	37	12	7531880	7531880	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:7531880C>T	ENST00000313599.3	-	9	2122	c.2065G>A	c.(2065-2067)Gag>Aag	p.E689K	CD163L1_ENST00000416109.2_Missense_Mutation_p.E699K|CD163L1_ENST00000396630.1_Missense_Mutation_p.E689K			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	689						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGCCTCAGCTCCATATCCGAT	0.448000													5	23					0	0	0.00198382	0	0
ATXN3L	92552	broad.mit.edu	37	X	13337902	13337902	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:13337902C>T	ENST00000380622.2	-	1	616	c.152G>A	c.(151-153)gGa>gAa	p.G51E	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	51	Josephin.				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GGTGACTCCTCCTTCTGCCAT	0.418000													28	65					0	0	0.00283554	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763278	92763278	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:92763278G>A	ENST00000318238.4	-	5	3223	c.2007C>T	c.(2005-2007)atC>atT	p.I669I	SAMD9L_ENST00000437805.1_Silent_p.I669I|SAMD9L_ENST00000411955.1_Silent_p.I669I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	669										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGTCTTTCTCGATGTCTGTCT	0.398000													12	38					0	0	0.00136819	0	0
BSCL2	26580	broad.mit.edu	37	11	62474647	62474647	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:62474647G>A	ENST00000433053.1	-	2	577	c.21C>T	c.(19-21)gaC>gaT	p.D7D	RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000405837.1_Silent_p.D7D|BSCL2_ENST00000360796.5_Silent_p.D7D			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	331					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						CCTCCTTTTGGTCTACCTTTT	0.517000													62	321					0	0	0.000781405	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221688	118221688	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:118221688C>T	ENST00000402510.2	-	11	3504	c.3505G>A	c.(3505-3507)Gaa>Aaa	p.E1169K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1169										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GAGGTCATTTCCTGAACTTTA	0.473000													8	13					0	0	0.000442599	0	0
SYNE1	23345	broad.mit.edu	37	6	152737990	152737990	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:152737990T>A	ENST00000367255.5	-	41	6183	c.5582A>T	c.(5581-5583)gAg>gTg	p.E1861V	SYNE1_ENST00000265368.4_Missense_Mutation_p.E1861V|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1868V|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1868V|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1898V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1861					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGCCGCCTCTCCACAACCTG	0.602000										HNSCC(10;0.0054)			8	46					0	0	0.000274275	0	0
PAX5	5079	broad.mit.edu	37	9	36966612	36966612	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:36966612G>A	ENST00000358127.4	-	6	788	c.714C>T	c.(712-714)gaC>gaT	p.D238D	PAX5_ENST00000523145.1_Silent_p.D130D|PAX5_ENST00000414447.1_Silent_p.D195D|PAX5_ENST00000377853.2_Silent_p.D238D|PAX5_ENST00000522003.1_Silent_p.D130D|PAX5_ENST00000377852.2_Silent_p.D238D|PAX5_ENST00000523241.1_Silent_p.D238D|PAX5_ENST00000446742.1_Silent_p.D172D|PAX5_ENST00000377847.2_Silent_p.D238D|PAX5_ENST00000520154.1_Silent_p.D238D|PAX5_ENST00000520281.1_Silent_p.D195D	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	238					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(41)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CAAACACGCGGTCCAGCACCT	0.622000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								6	18					0	0	0.00116845	0	0
ACAN	176	broad.mit.edu	37	15	89400784	89400784	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:89400784C>T	ENST00000439576.2	+	12	5342	c.4968C>T	c.(4966-4968)ttC>ttT	p.F1656F	ACAN_ENST00000561243.1_Silent_p.F1656F|ACAN_ENST00000352105.7_Silent_p.F1656F|ACAN_ENST00000559004.1_Silent_p.F1656F	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1656					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CATCTGGATTCCCAACTGTTT	0.537000													11	102					0	0	0.00185496	0	0
MAEL	84944	broad.mit.edu	37	1	166961963	166961963	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:166961963C>T	ENST00000367872.4	+	4	610	c.366C>T	c.(364-366)agC>agT	p.S122S	MAEL_ENST00000367870.2_Silent_p.S91S|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	122					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACATTTTTAGCCATGGCGAGC	0.363000													13	63					0	0	0.000308642	0	0
EPHB2	2048	broad.mit.edu	37	1	23111036	23111036	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:23111036C>T	ENST00000400191.3	+	3	296	c.278C>T	c.(277-279)tCg>tTg	p.S93L	EPHB2_ENST00000374632.3_Missense_Mutation_p.S93L|EPHB2_ENST00000544305.1_Missense_Mutation_p.S93L|EPHB2_ENST00000374630.3_Missense_Mutation_p.S93L|EPHB2_ENST00000374627.1_Missense_Mutation_p.S87L	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	93					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ATGAAGTTTTCGGTGCGTGAC	0.572000													6	21					0	0	0.00198382	0	0
MPPED1	758	broad.mit.edu	37	22	43898546	43898546	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:43898546G>A	ENST00000417669.1	+	6	1215	c.771G>A	c.(769-771)aaG>aaA	p.K257K	MPPED1_ENST00000443721.1_Silent_p.K257K|MPPED1_ENST00000439548.1_Silent_p.K99K|MPPED1_ENST00000542779.1_Silent_p.K257K|MPPED1_ENST00000538182.1_Silent_p.K290K|MPPED1_ENST00000414469.2_Silent_p.K151K			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	257							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GGGTCCCCAAGAAGATGCAGC	0.632000													14	74					0	0	0.00074312	0	0
DOK4	55715	broad.mit.edu	37	16	57507902	57507902	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:57507902C>T	ENST00000566936.1	-	6	946	c.649G>A	c.(649-651)Gag>Aag	p.E217K	DOK4_ENST00000569548.1_Missense_Mutation_p.E217K|DOK4_ENST00000340099.4_Missense_Mutation_p.E217K			Q8TEW6	DOK4_HUMAN	docking protein 4	217	IRS-type PTB.						insulin receptor binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						TAAATCTGCTCCCCCTCTTGT	0.597000													5	36					0	0	0.000602214	0	0
CASR	846	broad.mit.edu	37	3	121980902	121980902	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:121980902G>A	ENST00000498619.1	+	4	1458	c.1020G>A	c.(1018-1020)agG>agA	p.R340R	CASR_ENST00000296154.5_Silent_p.R340R|CASR_ENST00000490131.1_Silent_p.R340R	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	340					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCCATCCCAGGAAGTCTGTCC	0.517000													6	44					0	0	0.00198382	0	0
OR7G1	125962	broad.mit.edu	37	19	9226320	9226320	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9226320C>T	ENST00000293614.1	-	1	119	c.120G>A	c.(118-120)ctG>ctA	p.L40L	OR7G1_ENST00000541538.1_Silent_p.L40L			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						GCAGGTTCCCCAGGATGGTGA	0.473000													14	62					0	0	0.00244969	0	0
ANGPT2	285	broad.mit.edu	37	8	6378783	6378783	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:6378783C>T	ENST00000325203.5	-	4	1189	c.715G>A	c.(715-717)Gtg>Atg	p.V239M	MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000415216.1_Missense_Mutation_p.V239M|ANGPT2_ENST00000523120.1_Missense_Mutation_p.V239M|ANGPT2_ENST00000338312.6_Missense_Mutation_p.V187M			O15123	ANGP2_HUMAN	angiopoietin 2	239					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)		GAATTATTCACCGTGGCAGTC	0.348000													8	72					0	0	0.000673444	0	0
ZFAND4	93550	broad.mit.edu	37	10	46148466	46148466	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:46148466C>T	ENST00000374366.3	-	4	469	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	ZFAND4_ENST00000374371.2_Missense_Mutation_p.E76K|ZFAND4_ENST00000344646.5_Missense_Mutation_p.E76K|ZFAND4_ENST00000335258.7_Missense_Mutation_p.E76K			Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	76							zinc ion binding										TTTTCAAGTTCCATGTTATTC	0.313000													8	63					0	0	0.000673444	0	0
LILRA1	11024	broad.mit.edu	37	19	55106777	55106777	+	Missense_Mutation	SNP	C	C	T	rs141328341		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:55106777C>T	ENST00000453777.1	+	5	741	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.R191C|LILRB1_ENST00000396321.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	191	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GAGCCCGAGTCGCAGGTGGTC	0.567000													21	91					0	0	0.00188189	0	0
ATP8A2	51761	broad.mit.edu	37	13	26145762	26145762	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:26145762G>A	ENST00000381655.2	+	18	1736	c.1594G>A	c.(1594-1596)Gtg>Atg	p.V532M	ATP8A2_ENST00000255283.8_Missense_Mutation_p.V492M|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	492					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGCTGCTTTGGTGAAAGGAGC	0.413000													10	78					0	0	0.000673444	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643575	37643575	+	Missense_Mutation	SNP	G	G	A	rs146470162		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:37643575G>A	ENST00000356958.4	-	5	1484	c.1226C>T	c.(1225-1227)tCg>tTg	p.S409L	ZNF585A_ENST00000392157.2_Missense_Mutation_p.S354L|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.S354L			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.S354L(2)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCATATATACGATTTTTCTCC	0.418000													9	62					0	0	0.000442599	0	0
KIAA0355	9710	broad.mit.edu	37	19	34810938	34810938	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:34810938A>C	ENST00000299505.6	+	3	1495	c.622A>C	c.(622-624)Agc>Cgc	p.S208R		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	208										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					AAAAAAGAACAGCGGCAGTGG	0.572000													7	71					0	0	0.00198382	0	0
OR10A4	283297	broad.mit.edu	37	11	6897954	6897954	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:6897954G>A	ENST00000379829.2	+	1	99	c.76G>A	c.(76-78)Gct>Act	p.A26T		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGAGCTTCAGGCTCTACTGTT	0.463000													20	118					0	0	0.00188189	0	0
HIVEP2	3097	broad.mit.edu	37	6	143091182	143091182	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:143091182G>A	ENST00000367603.2	-	5	5436	c.4694C>T	c.(4693-4695)tCt>tTt	p.S1565F	HIVEP2_ENST00000367604.1_Missense_Mutation_p.S1565F|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1565F	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1565	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTCATCTGAAGATTCTTTGCT	0.537000													21	91					0	0	0.00278032	0	0
OR8D4	338662	broad.mit.edu	37	11	123777516	123777516	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:123777516C>T	ENST00000321355.2	+	1	408	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		ACGTGGCCATCTGCAGCCCAC	0.502000													9	75					0	0	0.000274275	0	0
NEXN	91624	broad.mit.edu	37	1	78401623	78401623	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:78401623G>A	ENST00000330010.8	+	10	1472	c.1175G>A	c.(1174-1176)gGa>gAa	p.G392E	NEXN_ENST00000457030.1_Missense_Mutation_p.G442E|NEXN_ENST00000480732.1_3'UTR|NEXN_ENST00000334785.7_Missense_Mutation_p.G456E	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	456	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAAAAAATTGGACAGTTGTCT	0.333000													9	106					0	0	0.000274275	0	0
MYL1	4632	broad.mit.edu	37	2	211163245	211163245	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:211163245G>A	ENST00000352451.3	-	3	350	c.203C>T	c.(202-204)tCc>tTc	p.S68F	MYL1_ENST00000341685.4_Missense_Mutation_p.S24F|MYL1_ENST00000496436.1_5'UTR	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	68	EF-hand 1.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GGTGATCTTGGAATCACCTGT	0.448000													12	42					0	0	0.00185496	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204425175	204425175	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:204425175C>T	ENST00000367187.3	-	12	2308	c.1752G>A	c.(1750-1752)aaG>aaA	p.K584K	PIK3C2B_ENST00000424712.2_Silent_p.K584K|PIK3C2B_ENST00000496872.1_5'UTR	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	584					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CTTCCACGACCTTCTCTGGGA	0.582000													6	22					0	0	0.00198382	0	0
IL37	27178	broad.mit.edu	37	2	113675292	113675292	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:113675292G>A	ENST00000263326.3	+	4	388	c.346G>A	c.(346-348)Ggg>Agg	p.G116R	IL37_ENST00000353225.3_Missense_Mutation_p.G76R|IL37_ENST00000311328.2_Missense_Mutation_p.G90R|IL37_ENST00000349806.3_Missense_Mutation_p.G55R|IL37_ENST00000352179.3_Missense_Mutation_p.G95R	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	116					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						GGTCTCTAAAGGGGAGTTTTG	0.483000													5	93					0	0	0.000602214	0	0
RIMBP2	23504	broad.mit.edu	37	12	130892332	130892332	+	Missense_Mutation	SNP	C	C	T	rs147944919		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:130892332C>T	ENST00000261655.4	-	16	3027	c.2864G>A	c.(2863-2865)cGg>cAg	p.R955Q		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	955	SH3 3.					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)		CACCATTCTCCGCGTCGATAC	0.517000													15	71					0	0	0.000308642	0	0
CNR1	1268	broad.mit.edu	37	6	88853780	88853780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:88853780C>T	ENST00000537554.1	-	2	4776	c.1214G>A	c.(1213-1215)cGa>cAa	p.R405Q	CNR1_ENST00000369499.2_Missense_Mutation_p.R405Q|CNR1_ENST00000369501.2_Missense_Mutation_p.R405Q|CNR1_ENST00000549716.1_Missense_Mutation_p.R344Q|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000535130.1_Missense_Mutation_p.R405Q|CNR1_ENST00000549890.1_Missense_Mutation_p.R405Q|CNR1_ENST00000428600.2_Missense_Mutation_p.R405Q|CNR1_ENST00000468898.1_Missense_Mutation_p.R372Q	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	405					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GAAAGCGTGTCGCAGGTCCTT	0.527000													6	47					0	0	0.00116845	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464517	141464517	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:141464517C>T	ENST00000247879.2	+	1	621	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	187					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					TCTTGGGACTCTGTGGTACCT	0.498000													11	23					0	0	0.00136819	0	0
GALP	85569	broad.mit.edu	37	19	56696603	56696603	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:56696603G>A	ENST00000357330.2	+	6	397	c.315G>A	c.(313-315)atG>atA	p.M105I	GALP_ENST00000440823.1_3'UTR	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	105					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		TGCTCAGCATGAAAATTCCCA	0.433000													7	37					0	0	0.000442599	0	0
CDCP2	200008	broad.mit.edu	37	1	54605385	54605385	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:54605385C>T	ENST00000371330.1	-	4	2005	c.1158G>A	c.(1156-1158)ggG>ggA	p.G386G	CDCP2_ENST00000530059.1_Intron	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	386						extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GCAAAGCCTCCCCTTCGCCCT	0.612000													5	27					0	0	0.00198382	0	0
CCKAR	886	broad.mit.edu	37	4	26483462	26483462	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:26483462G>A	ENST00000295589.3	-	5	1279	c.1085C>T	c.(1084-1086)tCc>tTc	p.S362F		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	362					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GACGCAGGAGGAGGTGTAGGA	0.627000													6	81					0	0	0.00116845	0	0
PTPRN2	5799	broad.mit.edu	37	7	157341681	157341681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:157341681C>T	ENST00000389413.3	-	21	2951	c.2848G>A	c.(2848-2850)Gag>Aag	p.E950K	PTPRN2_ENST00000389416.4_Missense_Mutation_p.E962K|PTPRN2_ENST00000389418.4_Missense_Mutation_p.E979K|PTPRN2_ENST00000409483.1_Missense_Mutation_p.E941K|PTPRN2_ENST00000404321.2_Missense_Mutation_p.E1002K	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	979	Substrate binding (By similarity).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.E979K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTCAAGTGCTCCAGGGTCGCT	0.547000													10	87					0	0	0.00136819	0	0
CDS1	1040	broad.mit.edu	37	4	85556427	85556427	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:85556427C>T	ENST00000295887.5	+	8	1156	c.733C>T	c.(733-735)Cca>Tca	p.P245S		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	245					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		GTTCCTTGTTCCAATATCAAG	0.303000													10	80					0	0	0.000673444	0	0
ADRA1A	148	broad.mit.edu	37	8	26722292	26722292	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:26722292G>A	ENST00000380573.3	-	2	1218	c.195C>T	c.(193-195)atC>atT	p.I65I	ADRA1A_ENST00000380587.1_Silent_p.I65I|ADRA1A_ENST00000380582.3_Silent_p.I65I|ADRA1A_ENST00000380586.1_Silent_p.I65I|ADRA1A_ENST00000380572.3_Silent_p.I65I|ADRA1A_ENST00000519229.1_Silent_p.I65I|ADRA1A_ENST00000358857.5_Silent_p.I65I|ADRA1A_ENST00000354550.4_Silent_p.I65I|ADRA1A_ENST00000276393.4_Silent_p.I65I|ADRA1A_ENST00000380581.2_Silent_p.I65I			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	65					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CCAGGTTGACGATGTAGTAGT	0.602000													10	120					0	0	0.000442599	0	0
WDR65	149465	broad.mit.edu	37	1	43663257	43663257	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:43663257C>T	ENST00000372492.4	+	7	1480	c.1156C>T	c.(1156-1158)Cca>Tca	p.P386S	WDR65_ENST00000528956.1_Missense_Mutation_p.P386S	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	386										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTTGATGTATCCATTGCACTC	0.493000													10	81					0	0	0.000673444	0	0
RNASET2	8635	broad.mit.edu	37	6	167362086	167362086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:167362086G>A	ENST00000366855.6	-	4	736	c.61C>T	c.(61-63)Ccg>Tcg	p.P21S	RNASET2_ENST00000496851.2_5'UTR|RP11-514O12.4_ENST00000507747.1_Silent_p.L39L|RNASET2_ENST00000508775.1_Missense_Mutation_p.P59S|RNASET2_ENST00000476238.2_Missense_Mutation_p.P59S			O00584	RNT2_HUMAN	ribonuclease T2	59					RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		CAGTAATCCGGAGGGTCTCTA	0.388000													8	99					0	0	0.000274275	0	0
MUC16	94025	broad.mit.edu	37	19	9060263	9060263	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:9060263C>T	ENST00000397910.4	-	3	27386	c.27183G>A	c.(27181-27183)gtG>gtA	p.V9061V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9063	Ser-rich.|Thr-rich.			S -> T (in Ref. 3; AAK74120).	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						GCCTGGTGATCACTTCAGTGG	0.498000													7	29					0	0	0.00198382	0	0
LILRA5	353514	broad.mit.edu	37	19	54823207	54823207	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:54823207C>T	ENST00000301219.3	-	4	455	c.336G>A	c.(334-336)ggG>ggA	p.G112G	LILRA5_ENST00000446712.3_Silent_p.G100G|LILRA5_ENST00000346508.3_Silent_p.G100G|LILRA5_ENST00000432233.3_Silent_p.G112G|AC008984.2_ENST00000507363.1_RNA	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	112	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGCGGTATCTCCCTGCATGGT	0.587000													25	110					0	0	0.00127121	0	0
CUBN	8029	broad.mit.edu	37	10	17085910	17085910	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:17085910G>A	ENST00000377833.4	-	26	3810	c.3745C>T	c.(3745-3747)Cgt>Tgt	p.R1249C		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1249	CUB 7.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCACTAGAACGAATAAGAGGG	0.428000													10	42					0	0	0.000978159	0	0
PLS1	5357	broad.mit.edu	37	3	142423340	142423340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:142423340G>A	ENST00000337777.3	+	14	1754	c.1541G>A	c.(1540-1542)gGt>gAt	p.G514D	PLS1_ENST00000497002.1_Missense_Mutation_p.G514D|PLS1_ENST00000457734.2_Missense_Mutation_p.G514D	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	514	Actin-binding 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						CTTGGAGAGGGTGAAAAAGTA	0.318000													27	104					0	0	0.000878237	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77331282	77331282	+	Missense_Mutation	SNP	C	C	T	rs144292157		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:77331282C>T	ENST00000282849.5	-	18	3123	c.2705G>A	c.(2704-2706)cGa>cAa	p.R902Q		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	902					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATTTTGATCTCGCAAGCAAAT	0.383000													8	122					0	0	0.000442599	0	0
CYP2S1	29785	broad.mit.edu	37	19	41700470	41700470	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:41700470G>A	ENST00000310054.4	+	2	415	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	CYP2S1_ENST00000542619.1_5'UTR	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	67					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GTACGGACCGGTGTTCACCAT	0.617000													7	25					0	0	0.000673444	0	0
INADL	10207	broad.mit.edu	37	1	62293185	62293185	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:62293185G>A	ENST00000371158.2	+	16	2024	c.1910G>A	c.(1909-1911)cGg>cAg	p.R637Q	INADL_ENST00000316485.6_Missense_Mutation_p.R637Q	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	637	PDZ 4.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTTTGCTGTCGGAGGTTGTTT	0.443000													10	147					0	0	0.000673444	0	0
FAM212B	55924	broad.mit.edu	37	1	112270349	112270349	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:112270349G>A	ENST00000357260.5	-	2	316	c.135C>T	c.(133-135)ctC>ctT	p.L45L	FAM212B_ENST00000444059.2_Silent_p.L30L|FAM212B_ENST00000534365.1_Silent_p.L45L	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN	family with sequence similarity 212, member B	45										cervix(1)|endometrium(1)	2						GCACCTGGAGGAGCTTCAGTT	0.572000													5	80					0	0	0.000602214	0	0
FREM1	158326	broad.mit.edu	37	9	14748556	14748556	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:14748556C>T	ENST00000380881.4	-	32	6457	c.5642G>A	c.(5641-5643)gGg>gAg	p.G1881E	FREM1_ENST00000380880.3_Missense_Mutation_p.G1880E|FREM1_ENST00000380894.1_Missense_Mutation_p.G416E|FREM1_ENST00000422223.2_Missense_Mutation_p.G1880E			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1880					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGAGGAAGACCCTGGGGGCAG	0.542000													9	93					0	0	0.000673444	0	0
FCGBP	8857	broad.mit.edu	37	19	40424197	40424197	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:40424197T>G	ENST00000221347.6	-	4	2013	c.2006A>C	c.(2005-2007)gAg>gCg	p.E669A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	669	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGGTCGCCCTCATAGTGTTG	0.602000													17	147					0	0	0.000958276	0	0
GRID2	2895	broad.mit.edu	37	4	94690479	94690479	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:94690479G>A	ENST00000282020.4	+	15	2737	c.2479G>A	c.(2479-2481)Gac>Aac	p.D827N	GRID2_ENST00000510992.1_Missense_Mutation_p.D732N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	827					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGGCGCCCTGGACATAAAGAG	0.517000													12	53					0	0	0.000308642	0	0
METTL24	728464	broad.mit.edu	37	6	110636592	110636592	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:110636592A>T	ENST00000338882.4	-	3	509	c.510T>A	c.(508-510)aaT>aaA	p.N170K		NM_001123364.1	NP_001116836.1	Q5JXM2	CF186_HUMAN	methyltransferase like 24	170						extracellular region											GATGAGCTAAATTGAACCTGT	0.458000													7	87					0	0	0.00198382	0	0
SLMO2	51012	broad.mit.edu	37	20	57610109	57610109	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:57610109C>T	ENST00000355937.4	-	6	716	c.538G>A	c.(538-540)Gga>Aga	p.G180R	SLMO2_ENST00000371033.5_Missense_Mutation_p.G150R	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	180										endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			CTTATGGTTCCTCTTGCTGAG	0.428000													8	32					0	0	0.000157383	0	0
LIPI	149998	broad.mit.edu	37	21	15537565	15537565	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:15537565C>T	ENST00000344577.2	-	6	968	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	LIPI_ENST00000536861.1_Missense_Mutation_p.E294K	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	294					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CATGATTTTTCCTTAAAACAG	0.318000													10	41					0	0	0.000978159	0	0
PCDHA13	56136	broad.mit.edu	37	5	140264186	140264186	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140264186C>T	ENST00000289272.2	+	1	2333	c.2333C>T	c.(2332-2334)cCt>cTt	p.P778L	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P778L|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCTTCCTCCTTGTCTGGGT	0.537000													5	37					0	0	0.00116845	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504524	151504524	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:151504524G>A	ENST00000317605.4	+	1	1448	c.343G>A	c.(343-345)Gag>Aag	p.E115K	LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	115					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TCTCTGGGTCGAGTTCATCAC	0.627000													15	48					0	0	0.000566183	0	0
IGSF1	3547	broad.mit.edu	37	X	130410050	130410050	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:130410050G>A	ENST00000370904.1	-	21	3664	c.2754C>T	c.(2752-2754)ttC>ttT	p.F918F	IGSF1_ENST00000361420.3_Silent_p.F927F|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370903.3_Silent_p.F932F|IGSF1_ENST00000370910.1_Silent_p.F918F			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	927	Ig-like C2-type 9.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGTGGAGAAGGAAGTCAGCTG	0.522000													11	20					0	0	0.00244969	0	0
NCAM2	4685	broad.mit.edu	37	21	22906900	22906900	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:22906900G>A	ENST00000400546.1	+	17	2574	c.2325G>A	c.(2323-2325)gaG>gaA	p.E775E	NCAM2_ENST00000284894.7_Silent_p.E633E	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	775					neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGAGAACAGAGGATGAAAGAG	0.403000													4	32					0	0	0.00024832	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37431005	37431005	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:37431005G>A	ENST00000374660.1	+	7	1111	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E338K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E338K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	394						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CACACCTAGGGAAATTATGAG	0.418000													12	73					0	0	0.00136819	0	0
TRAV22	28661	broad.mit.edu	37	14	22539252	22539252	+	RNA	SNP	A	A	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:22539252A>T	ENST00000390450.3	+	0	245																											GGAGGGAGCCAATTCCACGCT	0.478000													6	34					0	0	0.000157383	0	0
BCORL1	63035	broad.mit.edu	37	X	129149396	129149396	+	Missense_Mutation	SNP	G	G	A	rs138477961		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:129149396G>A	ENST00000540052.1	+	3	2692	c.2648G>A	c.(2647-2649)gGa>gAa	p.G883E	BCORL1_ENST00000218147.7_Missense_Mutation_p.G883E|BCORL1_ENST00000359304.2_Missense_Mutation_p.G883E|BCORL1_ENST00000303743.5_Missense_Mutation_p.G883E	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	883					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.G883V(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCCGTGCACGGACTTCCTGAG	0.602000													7	13					0	0	0.000157383	0	0
OR8B12	219858	broad.mit.edu	37	11	124412707	124412707	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:124412707G>A	ENST00000306842.2	-	1	868	c.844C>T	c.(844-846)Ccc>Tcc	p.P282S		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TTTAACACGGGGACTATTATG	0.428000													11	50					0	0	0.00185496	0	0
CCDC68	80323	broad.mit.edu	37	18	52609964	52609964	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:52609964G>A	ENST00000591504.1	-	3	333	c.59C>T	c.(58-60)tCt>tTt	p.S20F	CCDC68_ENST00000432185.1_Missense_Mutation_p.S20F|CCDC68_ENST00000337363.4_Missense_Mutation_p.S20F	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	20										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		ATACAAGGCAGAATTATCTTC	0.373000													5	49					0	0	0.000602214	0	0
UBE3C	9690	broad.mit.edu	37	7	156974326	156974326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:156974326C>T	ENST00000348165.5	+	7	1091	c.731C>T	c.(730-732)cCa>cTa	p.P244L	UBE3C_ENST00000389103.4_Missense_Mutation_p.P201L	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	244					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GTTCTAAAACCATTGCACTTT	0.353000													7	119					0	0	0.000274275	0	0
CDH23	64072	broad.mit.edu	37	10	73453962	73453962	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:73453962C>T	ENST00000224721.6	+	20	2255	c.2250C>T	c.(2248-2250)atC>atT	p.I750I	CDH23_ENST00000299366.7_Silent_p.I790I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	745	Cadherin 7.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACATCCTCATCGTTCGCGCAG	0.632000													4	22					0	0	0.000602214	0	0
FAM90A1	55138	broad.mit.edu	37	12	8376069	8376069	+	Silent	SNP	G	G	A	rs141678042		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:8376069G>A	ENST00000538603.1	-	6	966	c.408C>T	c.(406-408)tcC>tcT	p.S136S	FAM90A1_ENST00000307435.6_Silent_p.S136S	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	136							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		AAGATTCCGTGGATCCTTTTT	0.517000													16	49					0	0	0.000958276	0	0
VIPAS39	63894	broad.mit.edu	37	14	77915670	77915670	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:77915670G>A	ENST00000553888.1	-	6	923	c.413C>T	c.(412-414)gCt>gTt	p.A138V	VIPAS39_ENST00000556412.1_Missense_Mutation_p.A164V|VIPAS39_ENST00000448935.2_Missense_Mutation_p.A89V|VIPAS39_ENST00000327028.4_Missense_Mutation_p.A125V|VIPAS39_ENST00000343765.2_Missense_Mutation_p.A138V|VIPAS39_ENST00000557658.1_Missense_Mutation_p.A138V	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog																		CAGCTCTGGAGCATAGCTTTT	0.473000													8	66					0	0	0.000442599	0	0
OR5A1	219982	broad.mit.edu	37	11	59211349	59211349	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:59211349C>T	ENST00000302030.2	+	1	733	c.708C>T	c.(706-708)ggC>ggT	p.G236G		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CAGCAGAGGGCCGATGGAAAG	0.547000													12	69					0	0	0.00136819	0	0
PAK1	5058	broad.mit.edu	37	11	77047244	77047244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:77047244C>T	ENST00000356341.3	-	13	1831	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	PAK1_ENST00000528203.1_Missense_Mutation_p.E336K|PAK1_ENST00000530617.1_Missense_Mutation_p.E434K|PAK1_ENST00000278568.4_Missense_Mutation_p.E434K|PAK1_ENST00000525542.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	434	Protein kinase.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GTCACAACCTCTGGTGCCATC	0.502000													6	46					0	0	0.00198382	0	0
RIMBP2	23504	broad.mit.edu	37	12	130941052	130941052	+	Missense_Mutation	SNP	G	G	A	rs147862372		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:130941052G>A	ENST00000261655.4	-	4	459	c.296C>T	c.(295-297)tCc>tTc	p.S99F	RIMBP2_ENST00000535703.1_Missense_Mutation_p.S7F|RIMBP2_ENST00000536002.1_Missense_Mutation_p.S7F	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	99						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)		TTTGCCGAGGGAGGTGGCTAG	0.632000													5	33					0	0	0.000157383	0	0
ARAP1	116985	broad.mit.edu	37	11	72422081	72422081	+	Missense_Mutation	SNP	G	G	A	rs147507879		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:72422081G>A	ENST00000359373.5	-	9	2049	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W	ARAP1_ENST00000334211.8_Missense_Mutation_p.R155W|ARAP1_ENST00000429686.1_Missense_Mutation_p.R155W|ARAP1_ENST00000393605.3_Missense_Mutation_p.R160W|ARAP1_ENST00000393609.3_Missense_Mutation_p.R400W|ARAP1_ENST00000455638.2_Missense_Mutation_p.R400W|ARAP1_ENST00000426523.1_Missense_Mutation_p.R155W			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	400	PH 1.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CTCTCTGCCCGGAAGGCAAAG	0.532000													24	203					0	0	0.000720815	0	0
MTUS1	57509	broad.mit.edu	37	8	17611335	17611335	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:17611335C>T	ENST00000381869.3	-	2	2455	c.1982G>A	c.(1981-1983)aGg>aAg	p.R661K	MTUS1_ENST00000262102.6_Missense_Mutation_p.R661K|MTUS1_ENST00000519263.1_Missense_Mutation_p.R661K|MTUS1_ENST00000381862.3_Missense_Mutation_p.R661K	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	661						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AGGGCTAATCCTATCAATGTT	0.383000													6	59					0	0	0.00116845	0	0
ADAM30	11085	broad.mit.edu	37	1	120438653	120438653	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:120438653G>A	ENST00000369400.1	-	1	465	c.307C>T	c.(307-309)Cat>Tat	p.H103Y		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	103					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ATGTAAGGATGATCCTCCAGC	0.517000													64	314					0	0	0.000781405	0	0
NPHP1	4867	broad.mit.edu	37	2	110904405	110904405	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:110904405C>T	ENST00000316534.4	-	14	1518	c.1445G>A	c.(1444-1446)gGt>gAt	p.G482D	NPHP1_ENST00000417665.1_Missense_Mutation_p.G425D|NPHP1_ENST00000393272.3_Missense_Mutation_p.G481D|NPHP1_ENST00000445609.2_Missense_Mutation_p.G426D|NPHP1_ENST00000355301.4_Missense_Mutation_p.G363D			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	481					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TCCTCTTTCACCAGTTGACTA	0.358000													6	57					0	0	0.00198382	0	0
PTPRB	5787	broad.mit.edu	37	12	70953082	70953082	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:70953082C>T	ENST00000551525.1	-	18	4776	c.4752G>A	c.(4750-4752)taG>taA	p.*1584*	PTPRB_ENST00000334414.6_Intron|PTPRB_ENST00000550358.1_Intron|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000261266.5_Intron|PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000538708.1_Intron			P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TATACTTCCTCTACTCCATTT	0.373000													15	78					0	0	0.000422831	0	0
CASR	846	broad.mit.edu	37	3	122003591	122003591	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:122003591G>A	ENST00000498619.1	+	7	3258	c.2820G>A	c.(2818-2820)caG>caA	p.Q940Q	CASR_ENST00000296154.5_Silent_p.Q930Q|CASR_ENST00000490131.1_Silent_p.Q930Q	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	930					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCGAGAGGCAGAAGCAGCAGC	0.642000													6	10					0	0	0.000274275	0	0
EFCAB6	64800	broad.mit.edu	37	22	44067858	44067858	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:44067858G>A	ENST00000262726.7	-	15	1888	c.1635C>T	c.(1633-1635)ttC>ttT	p.F545F	EFCAB6_ENST00000396231.2_Silent_p.F393F	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	545					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTTACTTTATGAAATGTGCAT	0.343000													12	94					0	0	0.000308642	0	0
ASPH	444	broad.mit.edu	37	8	62430127	62430127	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:62430127G>A	ENST00000541428.1	-	24	2159	c.1999C>T	c.(1999-2001)Ccc>Tcc	p.P667S	ASPH_ENST00000379454.4_Missense_Mutation_p.P696S	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	696					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CCTTCCTTGGGAATCACCAAG	0.527000													10	68					0	0	0.00136819	0	0
NDN	4692	broad.mit.edu	37	15	23931639	23931639	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:23931639C>T	ENST00000331837.4	-	1	811	c.726G>A	c.(724-726)atG>atA	p.M242I		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	242	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	p.M242I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TCAGGTAATTCATTTGGACGA	0.592000									Prader-Willi syndrome				10	45					0	0	0.000442599	0	0
PTPRT	11122	broad.mit.edu	37	20	40735493	40735493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:40735493C>T	ENST00000373198.3	-	25	3624	c.3389G>A	c.(3388-3390)gGg>gAg	p.G1130E	PTPRT_ENST00000373184.1_Missense_Mutation_p.G1118E|PTPRT_ENST00000373187.1_Missense_Mutation_p.G1108E|PTPRT_ENST00000373190.1_Missense_Mutation_p.G1107E|PTPRT_ENST00000373193.3_Missense_Mutation_p.G1111E|PTPRT_ENST00000373201.1_Missense_Mutation_p.G1098E|PTPRT_ENST00000356100.2_Missense_Mutation_p.G1117E	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1108	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTCCACCACCCCTTCATTCTC	0.577000													15	49					0	0	0.00244969	0	0
PCDHA7	56141	broad.mit.edu	37	5	140214167	140214167	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140214167G>A	ENST00000525929.1	+	1	199	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.V67M	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCCGGGCGGTGTGCAAATT	0.627000													17	119					0	0	0.000958276	0	0
ITGB8	3696	broad.mit.edu	37	7	20420329	20420329	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:20420329C>T	ENST00000222573.3	+	5	1360	c.676C>T	c.(676-678)Cat>Tat	p.H226Y	ITGB8_ENST00000537992.1_Missense_Mutation_p.H91Y	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	226	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TGGATACATCCATGTGCTGTC	0.408000													21	95					0	0	0.000720815	0	0
TNFRSF9	3604	broad.mit.edu	37	1	7995160	7995160	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:7995160C>T	ENST00000377507.3	-	6	623	c.457G>A	c.(457-459)Gag>Aag	p.E153K		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	153					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		ACGTCCCTCTCCTTCGTCCCA	0.502000													17	40					0	0	0.000958276	0	0
TARSL2	123283	broad.mit.edu	37	15	102255132	102255132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:102255132C>T	ENST00000335968.3	-	4	817	c.601G>A	c.(601-603)Gtc>Atc	p.V201I		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	201					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCACCATTGACTTTGGCTATT	0.418000													8	62					0	0	0.000274275	0	0
ZNF713	349075	broad.mit.edu	37	7	56007624	56007624	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:56007624C>T	ENST00000429591.2	+	4	1256	c.1218C>T	c.(1216-1218)atC>atT	p.I406I	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACAGGAAAATCCATACTCGGG	0.393000													7	37					0	0	0.00198382	0	0
COL4A4	1286	broad.mit.edu	37	2	227886850	227886850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:227886850C>T	ENST00000396625.3	-	44	4337	c.4130G>A	c.(4129-4131)cGa>cAa	p.R1377Q	COL4A4_ENST00000329662.7_Missense_Mutation_p.R1374Q	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1377	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.R1377Q(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCCTGGGATTCGGGGACAGTC	0.582000													8	122					0	0	0.000274275	0	0
SCN11A	11280	broad.mit.edu	37	3	38968369	38968369	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:38968369C>T	ENST00000450244.1	-	4	740	c.542G>A	c.(541-543)aGa>aAa	p.R181K	SCN11A_ENST00000444237.2_Missense_Mutation_p.R181K|SCN11A_ENST00000456224.3_Missense_Mutation_p.R181K|SCN11A_ENST00000302328.3_Missense_Mutation_p.R181K			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	181					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AATGAAACCTCTTGCCAATAT	0.338000													17	107					0	0	0.000566183	0	0
ABCC6	368	broad.mit.edu	37	16	16302616	16302616	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:16302616C>T	ENST00000205557.7	-	7	792	c.763G>A	c.(763-765)Gag>Aag	p.E255K	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	255					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CTCATCCACTCCTTTTCAAGC	0.547000													14	50					0	0	0.000422831	0	0
CAPSL	133690	broad.mit.edu	37	5	35910527	35910527	+	Silent	SNP	T	T	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:35910527T>G	ENST00000397367.2	-	3	382	c.256A>C	c.(256-258)Agg>Cgg	p.R86R	CAPSL_ENST00000397366.1_Silent_p.R86R|CAPSL_ENST00000514524.1_Silent_p.R86R	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	86	EF-hand 2.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TTATCAAACCTCCGGAAAAGT	0.358000													21	91					0	0	0.00188189	0	0
FAM181A	90050	broad.mit.edu	37	14	94394706	94394706	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:94394706G>A	ENST00000267594.5	+	3	568	c.261G>A	c.(259-261)ctG>ctA	p.L87L	FAM181A_ENST00000557719.1_Silent_p.L25L|FAM181A_ENST00000557000.2_Silent_p.L25L|FAM181A_ENST00000556222.1_Silent_p.L25L	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	87										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						AGGCAGCCCTGGATAAGTCCG	0.622000													5	24					0	0	0.00116845	0	0
WNT5A	7474	broad.mit.edu	37	3	55504141	55504141	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:55504141C>T	ENST00000474267.1	-	6	1643	c.1122G>A	c.(1120-1122)gtG>gtA	p.V374V	WNT5A_ENST00000497027.1_Silent_p.V359V|WNT5A_ENST00000493406.1_5'UTR|WNT5A_ENST00000264634.4_Silent_p.V374V			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	374					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CAAACTGGTCCACGATCTCCG	0.547000													5	52					0	0	0.00198382	0	0
NLRP10	338322	broad.mit.edu	37	11	7981952	7981952	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:7981952C>T	ENST00000328600.2	-	2	1368	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	403	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGGGAAAGCTCGGAGCAGCCC	0.537000													8	28					0	0	0.000274275	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872148	51872148	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:51872148C>T	ENST00000371497.5	+	2	3038	c.2151C>T	c.(2149-2151)tcC>tcT	p.S717S	TSHZ2_ENST00000603338.2_Silent_p.S714S|TSHZ2_ENST00000329613.6_Silent_p.S714S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	717					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)			GCTCACCTTCCTGCTCCAGCC	0.577000													5	50					0	0	0.00198382	0	0
C6orf58	352999	broad.mit.edu	37	6	127911434	127911434	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:127911434C>T	ENST00000329722.7	+	5	889	c.877C>T	c.(877-879)Ctt>Ttt	p.L293F		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	293						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		AGTCCTGGTTCTTCTAAATAT	0.338000													9	167					0	0	0.00244969	0	0
IGLV2-18	28814	broad.mit.edu	37	22	23077529	23077529	+	RNA	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:23077529G>A	ENST00000390310.2	+	0	319																											TCCAGGCTGAGGACGAGGCTG	0.552000													7	68					0	0	0.000157383	0	0
PAX8	7849	broad.mit.edu	37	2	113999250	113999250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:113999250G>A	ENST00000429538.3	-	7	849	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S	AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000451179.1_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.P219S|PAX8_ENST00000263335.7_Missense_Mutation_p.P219S|PAX8_ENST00000348715.5_Missense_Mutation_p.P219S|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000436293.2_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.P219S|AC016683.6_ENST00000422956.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	219					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TGCTTTCGGGGTCCGCTGCTG	0.592000			T	PPARG	follicular thyroid		Thyroid dysgenesis						12	38					0	0	0.000308642	0	0
ASMTL	8623	broad.mit.edu	37	X	1531636	1531636	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:1531636C>T	ENST00000534940.1	-	12	1685	c.1460G>A	c.(1459-1461)aGc>aAc	p.S487N	ASMTL_ENST00000416733.2_Missense_Mutation_p.S469N|ASMTL-AS1_ENST00000602357.1_RNA|ASMTL-AS1_ENST00000425740.2_RNA|ASMTL_ENST00000381317.3_Missense_Mutation_p.S545N|ASMTL-AS1_ENST00000420411.2_RNA|ASMTL_ENST00000381333.4_Missense_Mutation_p.S529N|ASMTL-AS1_ENST00000419737.2_RNA	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	545	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGGCTTGCAGCTCTCGGCGAC	0.572000													46	194					0	0	0.000781405	0	0
DPP10	57628	broad.mit.edu	37	2	116283505	116283505	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:116283505C>T	ENST00000410059.1	+	5	878	c.398C>T	c.(397-399)tCa>tTa	p.S133L	DPP10_ENST00000409163.1_Missense_Mutation_p.S83L|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.S126L|DPP10_ENST00000393147.2_Missense_Mutation_p.S137L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	133					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CATTCAGTTTCACCAGATTTA	0.308000													7	35					0	0	0.000673444	0	0
ITGA11	22801	broad.mit.edu	37	15	68643055	68643055	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:68643055G>A	ENST00000423218.2	-	9	1055	c.960C>T	c.(958-960)atC>atT	p.I320I	ITGA11_ENST00000315757.7_Silent_p.I320I			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	320	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GGTCACTGGCGATGTATTTGA	0.507000													13	41					0	0	0.00185496	0	0
GRAMD3	65983	broad.mit.edu	37	5	125819252	125819252	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:125819252C>T	ENST00000285689.3	+	9	1294	c.833C>T	c.(832-834)tCt>tTt	p.S278F	GRAMD3_ENST00000513040.1_Missense_Mutation_p.S293F|GRAMD3_ENST00000502348.1_Missense_Mutation_p.S169F|RP11-517I3.1_ENST00000515808.1_RNA|RP11-517I3.1_ENST00000512500.1_RNA|GRAMD3_ENST00000543198.1_Missense_Mutation_p.S255F|GRAMD3_ENST00000511134.1_Missense_Mutation_p.S262F|GRAMD3_ENST00000542322.1_Missense_Mutation_p.S286F|GRAMD3_ENST00000544396.1_Missense_Mutation_p.S174F|GRAMD3_ENST00000515200.1_Missense_Mutation_p.S255F	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	278										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		ACTCCTGAATCTGAGAACTCT	0.383000													9	45					0	0	0.000442599	0	0
PCLO	27445	broad.mit.edu	37	7	82785521	82785521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:82785521C>T	ENST00000423517.2	-	2	773	c.436G>A	c.(436-438)Gaa>Aaa	p.E146K	PCLO_ENST00000333891.8_Missense_Mutation_p.E146K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	146					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGTGCTCTTCCTTTAAATCA	0.403000													6	96					0	0	0.00116845	0	0
DCLK1	9201	broad.mit.edu	37	13	36385035	36385035	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:36385035C>T	ENST00000255448.4	-	12	1836	c.1625G>A	c.(1624-1626)gGc>gAc	p.G542D	DCLK1_ENST00000360631.3_Missense_Mutation_p.G542D|DCLK1_ENST00000379893.1_Missense_Mutation_p.G235D	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	542	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GTACAGGGGGCCGTCTACAAT	0.463000													10	101					0	0	0.000978159	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1606189	1606189	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:1606189C>T	ENST00000382171.2	-	1	324	c.291G>A	c.(289-291)ggG>ggA	p.G97G	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	97	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCCACAACCCCCCTTGGATC	0.677000													6	32					0	0	0.000442599	0	0
LMO7	4008	broad.mit.edu	37	13	76415931	76415931	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:76415931C>T	ENST00000357063.3	+	25	5259	c.3999C>T	c.(3997-3999)gaC>gaT	p.D1333D	LMO7_ENST00000321797.8_Silent_p.D1048D|LMO7_ENST00000526202.1_Silent_p.D925D|LMO7_ENST00000341547.4_Silent_p.D999D|LMO7_ENST00000377534.3_Silent_p.D1333D|LMO7_ENST00000465261.2_Silent_p.D1048D			Q8WWI1	LMO7_HUMAN	LIM domain 7	1333						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)		TTCATGAGGACCAAGGAAAGA	0.517000													9	56					0	0	0.000442599	0	0
SP140	11262	broad.mit.edu	37	2	231103033	231103033	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:231103033T>C	ENST00000392045.3	+	3	457	c.343T>C	c.(343-345)Ttc>Ctc	p.F115L	SP140_ENST00000544128.1_3'UTR|SP140_ENST00000420434.3_Missense_Mutation_p.F115L|SP140_ENST00000350136.5_Missense_Mutation_p.F95L|SP140_ENST00000343805.6_Missense_Mutation_p.F115L|SP140_ENST00000373645.3_Missense_Mutation_p.F115L|SP140_ENST00000486687.2_Missense_Mutation_p.F115L|SP140_ENST00000417495.3_Missense_Mutation_p.F115L	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	115	HSR.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGAAGCATTGTTCAGCAGGAT	0.433000													10	55					0	0	0.000442599	0	0
TUBA1C	84790	broad.mit.edu	37	12	49666051	49666051	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:49666051G>A	ENST00000301072.6	+	4	666	c.391G>A	c.(391-393)Ggt>Agt	p.G131S	RP11-161H23.5_ENST00000550468.2_RNA|TUBA1C_ENST00000541364.1_Missense_Mutation_p.G201S	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	131					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						CCAGTGCACCGGTCTTCAGGG	0.443000													11	71					0	0	0.000308642	0	0
KIAA1217	56243	broad.mit.edu	37	10	24816930	24816930	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:24816930G>A	ENST00000376451.2	+	9	2273	c.2013G>A	c.(2011-2013)gaG>gaA	p.E671E	KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000307544.6_Silent_p.E671E|KIAA1217_ENST00000458595.1_Silent_p.E953E|KIAA1217_ENST00000376462.1_Silent_p.E908E|KIAA1217_ENST00000396446.1_Silent_p.E671E|KIAA1217_ENST00000396445.1_Silent_p.E671E|KIAA1217_ENST00000376454.3_Silent_p.E988E|KIAA1217_ENST00000376452.3_Silent_p.E953E			Q5T5P2	SKT_HUMAN	KIAA1217	988					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAGAGTTTGAGAAGCTCCTAG	0.473000													19	97					0	0	0.000586117	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31124405	31124405	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:31124405C>T	ENST00000304166.4	+	8	781	c.492C>T	c.(490-492)tcC>tcT	p.S164S	ADCYAP1R1_ENST00000409489.1_Silent_p.S164S|ADCYAP1R1_ENST00000396211.2_Silent_p.S164S|ADCYAP1R1_ENST00000409363.1_Silent_p.S143S	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	164					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	p.S164S(2)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						ACAGCACATCCCTCGTCACCC	0.562000													13	89					0	0	0.000566183	0	0
CDH26	60437	broad.mit.edu	37	20	58564020	58564020	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:58564020G>A	ENST00000348616.4	+	9	1385	c.1085G>A	c.(1084-1086)aGg>aAg	p.R362K	CDH26_ENST00000244047.5_Missense_Mutation_p.R362K	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	362	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			AATGAGGAGAGGCTCGTCTTC	0.572000													7	54					0	0	0.00198382	0	0
ING5	84289	broad.mit.edu	37	2	242644072	242644072	+	Silent	SNP	C	C	T	rs139118032	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:242644072C>T	ENST00000313552.6	+	2	68	c.42C>T	c.(40-42)atC>atT	p.I14I	ING5_ENST00000482774.1_3'UTR|ING5_ENST00000406941.1_Silent_p.I14I	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	14					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TTTCAGGTATCGAGAACCTTC	0.468000													8	138					0	0	0.000442599	0	0
TMCO5A	145942	broad.mit.edu	37	15	38228562	38228562	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:38228562T>C	ENST00000558158.1	+	3	192	c.38T>C	c.(37-39)aTt>aCt	p.I13T	TMCO5A_ENST00000319669.4_Missense_Mutation_p.I13T|TMCO5A_ENST00000559502.1_Missense_Mutation_p.I13T|TMCO5A_ENST00000540944.1_Missense_Mutation_p.I13T			Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	13						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						AAAAGAAACATTATCAGTTTG	0.388000													11	51					0	0	0.000978159	0	0
PLCE1	51196	broad.mit.edu	37	10	95848986	95848986	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:95848986G>A	ENST00000371375.1	+	1	135	c.135G>A	c.(133-135)gaG>gaA	p.E45E	PLCE1_ENST00000371380.2_Intron|RP11-429H9.4_ENST00000438899.1_RNA|PLCE1_ENST00000260766.3_Intron|PLCE1_ENST00000371385.3_Silent_p.E45E			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	0					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TAGGCAGAGAGCCCCAGGAGA	0.537000													11	118					0	0	0.00136819	0	0
WFDC1	58189	broad.mit.edu	37	16	84351933	84351933	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:84351933C>T	ENST00000219454.5	+	3	719	c.393C>T	c.(391-393)ctC>ctT	p.L131L	WFDC1_ENST00000568638.1_Silent_p.L131L			Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	131					negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						ATGGCTGGCTCCTGGATGGCC	0.572000													5	50					0	0	0.00116845	0	0
C2orf78	388960	broad.mit.edu	37	2	74042632	74042632	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:74042632C>T	ENST00000409561.1	+	3	1403	c.1282C>T	c.(1282-1284)Caa>Taa	p.Q428*		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	428										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TCTTGAGGACCAAGGGATATT	0.473000													7	40					0	0	0.00198382	0	0
SERPINI2	5276	broad.mit.edu	37	3	167183073	167183073	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:167183073C>T	ENST00000476257.1	-	6	1085	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	SERPINI2_ENST00000264677.4_Missense_Mutation_p.E263K|SERPINI2_ENST00000461846.1_Missense_Mutation_p.E263K|SERPINI2_ENST00000471111.1_Missense_Mutation_p.E263K			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	263					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ATTAGTTTTTCCACTTCTTCT	0.348000													23	136					0	0	0.00278032	0	0
DRD1	1812	broad.mit.edu	37	5	174869097	174869097	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:174869097C>T	ENST00000393752.2	-	2	1998	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	336					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	TTCCGAAAATCAGCATTAAAG	0.468000													13	77					0	0	0.00136819	0	0
AMFR	267	broad.mit.edu	37	16	56401394	56401394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:56401394G>A	ENST00000290649.5	-	12	1771	c.1561C>T	c.(1561-1563)Cca>Tca	p.P521S		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	521					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TCACTGCTTGGCCTTTCCACA	0.498000													44	218					0	0	0.000781405	0	0
ADH1A	124	broad.mit.edu	37	4	100208132	100208132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:100208132C>T	ENST00000209668.2	-	3	247	c.134G>A	c.(133-135)gGa>gAa	p.G45E	ADH1A_ENST00000511656.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	45					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	GCCACAGATTCCTACAGCCAC	0.468000													13	63					0	0	0.00185496	0	0
C1orf158	93190	broad.mit.edu	37	1	12819291	12819291	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:12819291C>T	ENST00000288048.5	+	3	490	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	C1orf158_ENST00000376210.3_Missense_Mutation_p.R54C	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	92										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCCACATCGCTACCTGAT	0.567000													30	127					0	0	0.00209593	0	0
SDR16C5	195814	broad.mit.edu	37	8	57218273	57218273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:57218273G>A	ENST00000396721.2	-	5	717	c.587C>T	c.(586-588)tCt>tTt	p.S196F	SDR16C5_ENST00000303749.3_Missense_Mutation_p.S240F|SDR16C5_ENST00000522671.1_Missense_Mutation_p.S240F			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	240					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TGGCAACAGAGAAGGACAGCT	0.289000													10	104					0	0	0.000442599	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54929986	54929986	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:54929986C>T	ENST00000293373.6	+	28	3109	c.3030C>T	c.(3028-3030)ctC>ctT	p.L1010L	NCKAP1L_ENST00000545638.2_Silent_p.L960L	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1010					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	p.L1010L(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CCCTCCCACTCCTTGCCACTG	0.478000													5	41					0	0	0.00116845	0	0
COL14A1	7373	broad.mit.edu	37	8	121239495	121239495	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:121239495G>A	ENST00000297848.3	+	17	2311	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	COL14A1_ENST00000247781.3_Missense_Mutation_p.E586K|COL14A1_ENST00000309791.4_Missense_Mutation_p.E681K|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	681	Fibronectin type-III 5.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACATGTTATTGAAGGCCTGGA	0.423000													8	54					0	0	0.000274275	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951447	30951447	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:30951447G>A	ENST00000402321.1	-	3	1082	c.765C>T	c.(763-765)ttC>ttT	p.F255F	GAL3ST1_ENST00000406361.1_Silent_p.F255F|GAL3ST1_ENST00000443111.2_Silent_p.F255F|GAL3ST1_ENST00000406955.1_Silent_p.F255F|GAL3ST1_ENST00000401975.1_Silent_p.F255F|GAL3ST1_ENST00000338911.5_Silent_p.F255F|GAL3ST1_ENST00000402369.1_Silent_p.F255F			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	255					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	p.F255F(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GCGACTCGTCGAAGTACTCTT	0.647000													20	82					0	0	0.00047179	0	0
TXNDC16	57544	broad.mit.edu	37	14	52981633	52981633	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:52981633G>A	ENST00000281741.4	-	8	941	c.570C>T	c.(568-570)gtC>gtT	p.V190V	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	190					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CTGTGGTTAAGACAAATTGGT	0.353000													17	114					0	0	0.00074312	0	0
ATP13A4	84239	broad.mit.edu	37	3	193176838	193176838	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:193176838C>T	ENST00000295548.3	-	14	1705	c.1706G>A	c.(1705-1707)aGc>aAc	p.S569N	ATP13A4_ENST00000392443.3_Intron|ATP13A4_ENST00000342695.4_Intron			Q4VNC1	AT134_HUMAN	ATPase type 13A4	0					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ATTGAAGAAGCTTCTCAGATT	0.453000													8	126					0	0	0.000442599	0	0
FERMT1	55612	broad.mit.edu	37	20	6088216	6088216	+	Missense_Mutation	SNP	C	C	T	rs144791466		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:6088216C>T	ENST00000217289.4	-	6	1600	c.812G>A	c.(811-813)cGa>cAa	p.R271Q	FERMT1_ENST00000536936.1_Missense_Mutation_p.R14Q	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	271	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						ATATTTAAATCGTAAGAGCAG	0.373000													9	60					0	0	0.000673444	0	0
CD96	10225	broad.mit.edu	37	3	111368615	111368615	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:111368615G>A	ENST00000352690.4	+	14	1912	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	CD96_ENST00000283285.5_Missense_Mutation_p.E574K	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	574	Pro-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AGAGCCCAACGAAAGTGATCT	0.463000									Opitz Trigonocephaly syndrome				7	113					0	0	0.000157383	0	0
FNDC1	84624	broad.mit.edu	37	6	159687229	159687229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:159687229C>T	ENST00000297267.9	+	21	5598	c.5398C>T	c.(5398-5400)Ctt>Ttt	p.L1800F	FNDC1_ENST00000340366.6_Missense_Mutation_p.L1737F	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1800						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGGAGTTGTTCTTTGTAATTC	0.443000													11	109					0	0	0.000673444	0	0
PQLC2	54896	broad.mit.edu	37	1	19652757	19652757	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:19652757C>T	ENST00000375153.3	+	5	1041	c.401C>T	c.(400-402)tCc>tTc	p.S134F	PQLC2_ENST00000400548.2_Missense_Mutation_p.S69F|PQLC2_ENST00000375155.3_Missense_Mutation_p.S134F	NM_001040125.1	NP_001035214.1	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2	134						integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCATCAACTCCGTGCTGTTG	0.662000													7	24					0	0	0.000673444	0	0
EHHADH	1962	broad.mit.edu	37	3	184947266	184947266	+	Silent	SNP	G	G	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:184947266G>C	ENST00000231887.3	-	4	492	c.417C>G	c.(415-417)ctC>ctG	p.L139L	EHHADH_ENST00000475987.1_5'UTR|EHHADH_ENST00000456310.1_Silent_p.L43L	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	139	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TGAGTCTGGGGAGAAGCTGGG	0.463000													5	24					0	0	0.00198382	0	0
GGCX	2677	broad.mit.edu	37	2	85779675	85779675	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:85779675G>A	ENST00000233838.3	-	10	1383	c.1303C>T	c.(1303-1305)Cgg>Tgg	p.R435W	GGCX_ENST00000473665.1_5'UTR|GGCX_ENST00000430215.3_Missense_Mutation_p.R378W	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	435					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	TTCCATCGCCGACTCTGTGTA	0.493000											OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	92					0	0	0.00127121	0	0
NRG3	10718	broad.mit.edu	37	10	84118519	84118519	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:84118519G>A	ENST00000372142.2	+	3	459	c.185G>A	c.(184-186)cGa>cAa	p.R62Q	NRG3_ENST00000372141.2_Missense_Mutation_p.R283Q|NRG3_ENST00000404576.2_Missense_Mutation_p.R87Q|NRG3_ENST00000404547.1_Missense_Mutation_p.R283Q|NRG3_ENST00000556918.1_Missense_Mutation_p.R113Q	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	283					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TCCACAGAGCGATCCGAGCAC	0.517000													10	75					0	0	0.000673444	0	0
GFRA3	2676	broad.mit.edu	37	5	137593443	137593443	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:137593443C>T	ENST00000274721.3	-	4	916	c.670G>A	c.(670-672)Gac>Aac	p.D224N	GFRA3_ENST00000378362.3_Missense_Mutation_p.D193N	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	224					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGCCCCGGTCGTTGGGGGCA	0.716000													5	22					0	0	0.000602214	0	0
PTGFR	5737	broad.mit.edu	37	1	78958511	78958511	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:78958511T>C	ENST00000370756.3	+	2	320	c.83T>C	c.(82-84)cTt>cCt	p.L28P	PTGFR_ENST00000370757.3_Missense_Mutation_p.L28P|PTGFR_ENST00000370758.1_Missense_Mutation_p.L28P	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	28					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GAAAACCGGCTTTCCGTATTT	0.438000													7	88					0	0	0.00198382	0	0
SUGP2	10147	broad.mit.edu	37	19	19112482	19112482	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:19112482G>A	ENST00000601879.1	-	8	3228	c.2929_splice	c.e8-1	p.V977_splice	SUGP2_ENST00000456085.2_Splice_Site_p.V746_splice|SUGP2_ENST00000337018.6_Splice_Site_p.V977_splice|SUGP2_ENST00000600377.1_Splice_Site_p.V991_splice|SUGP2_ENST00000452918.2_Splice_Site_p.V977_splice			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	977					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CTGGTTCATGGACTAGAAGAC	0.413000													13	81					0	0	0.00185496	0	0
CYP7B1	9420	broad.mit.edu	37	8	65528373	65528373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:65528373C>T	ENST00000310193.3	-	3	898	c.725G>A	c.(724-726)aGa>aAa	p.R242K		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	242					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AATTTTCTCTCTAATAGACTT	0.328000													5	94					0	0	0.00116845	0	0
LRRC32	2615	broad.mit.edu	37	11	76372536	76372536	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:76372536G>A	ENST00000407242.2	-	3	343	c.101C>T	c.(100-102)tCg>tTg	p.S34L	LRRC32_ENST00000260061.5_Missense_Mutation_p.S34L|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.S34L|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	34						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AACCTGGCACGAGACCTTCTT	0.602000													4	10					0	0	0.00024832	0	0
SNHG14	104472715	broad.mit.edu	37	15	25227098	25227098	+	RNA	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:25227098C>T	ENST00000551631.2	+	0	401					NR_001293.1																						GGTAAAATAACCTTATAAAGA	0.378000													19	323					0	0	0.00188189	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21033868	21033868	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:21033868G>A	ENST00000381545.3	+	12	1630	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.E471K|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.E471K|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.E471K|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	471	Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AAGTCAGTGGGAACCAGTCTG	0.368000													17	89					0	0	0.00121646	0	0
SAGE1	55511	broad.mit.edu	37	X	134994496	134994496	+	Silent	SNP	C	C	T	rs137933327	by1000genomes	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:134994496C>T	ENST00000535938.1	+	19	2705	c.2538C>T	c.(2536-2538)ttC>ttT	p.F846F	SAGE1_ENST00000370709.3_Silent_p.F846F|SAGE1_ENST00000324447.3_Silent_p.F846F|SAGE1_ENST00000537770.1_Silent_p.F470F	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	846										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AAAGAATTTTCATTTTGCTTG	0.318000													19	71					0	0	0.00121646	0	0
CD5L	922	broad.mit.edu	37	1	157805837	157805837	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:157805837A>T	ENST00000368174.4	-	3	260	c.164T>A	c.(163-165)aTt>aAt	p.I55N	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	55	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACGTCCTTAATGTCCCAGCC	0.607000													6	85					0	0	0.00198382	0	0
DCC	1630	broad.mit.edu	37	18	50683759	50683759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:50683759C>T	ENST00000442544.2	+	8	1911	c.1295C>T	c.(1294-1296)cCc>cTc	p.P432L	DCC_ENST00000580146.1_3'UTR|DCC_ENST00000412726.1_Missense_Mutation_p.P280L|DCC_ENST00000581580.1_Missense_Mutation_p.P87L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	432	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCTTCGGCTCCCAGAGATGTG	0.532000													21	94					0	0	0.000878237	0	0
ATP10B	23120	broad.mit.edu	37	5	160033961	160033961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:160033961C>T	ENST00000327245.5	-	19	3817	c.2971G>A	c.(2971-2973)Gtt>Att	p.V991I		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	991					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTTCTGGAACCACAGCTTCT	0.478000													11	73					0	0	0.00185496	0	0
MYH11	4629	broad.mit.edu	37	16	15853472	15853472	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:15853472G>A	ENST00000338282.6	-	12	1468	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F	MYH11_ENST00000396324.3_Silent_p.F461F|MYH11_ENST00000576790.1_Silent_p.F454F|MYH11_ENST00000300036.5_Silent_p.F454F|MYH11_ENST00000452625.2_Silent_p.F461F	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	454	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGATCCCCAGGAAGGAAGCCC	0.527000			T	CBFB	AML								18	87					0	0	0.00121646	0	0
ELMOD1	55531	broad.mit.edu	37	11	107506453	107506453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:107506453G>A	ENST00000265840.7	+	6	647	c.382G>A	c.(382-384)Gat>Aat	p.D128N	ELMOD1_ENST00000531234.1_Missense_Mutation_p.D122N|ELMOD1_ENST00000443271.2_Missense_Mutation_p.D128N	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	128					phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		AGAGGCCTATGATTCTGATAA	0.463000													9	45					0	0	0.000274275	0	0
CLCN1	1180	broad.mit.edu	37	7	143016847	143016847	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:143016847G>A	ENST00000343257.2	+	2	267		c.e2-1			NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1						muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TCTCTGTCCAGATTTATGGCC	0.463000													28	114					0	0	0.00106085	0	0
XRCC4	7518	broad.mit.edu	37	5	82400780	82400780	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:82400780C>T	ENST00000282268.3	+	2	217	c.42C>T	c.(40-42)ccC>ccT	p.P14P	XRCC4_ENST00000338635.6_Silent_p.P14P|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000396027.4_Silent_p.P14P|XRCC4_ENST00000511817.1_Silent_p.P14P	NM_003401.3|NM_022406.2|NM_022550.2	NP_003392.1|NP_071801.1|NP_072044.1	Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	14					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		TTTCTGAACCCAGTATAACTC	0.343000								Non-homologous end-joining					11	59					0	0	0.000978159	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686417	108686417	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:108686417C>T	ENST00000397688.2	-	3	686	c.317G>A	c.(316-318)gGg>gAg	p.G106E	CMKLR1_ENST00000552995.1_Missense_Mutation_p.G106E|CMKLR1_ENST00000412676.1_Missense_Mutation_p.G108E|CMKLR1_ENST00000550402.1_Missense_Mutation_p.G108E|CMKLR1_ENST00000312143.7_Missense_Mutation_p.G108E	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	108					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						CATGGCTGTCCCGAAAACCCA	0.522000													5	46					0	0	0.00116845	0	0
TAF1L	138474	broad.mit.edu	37	9	32633276	32633276	+	Missense_Mutation	SNP	G	G	A	rs149009358		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:32633276G>A	ENST00000242310.4	-	1	2391	c.2302C>T	c.(2302-2304)Cgt>Tgt	p.R768C		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	768					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ACTGGAGCACGAAAAAGGTTG	0.413000													10	58					0	0	0.000442599	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480247	140480247	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140480247G>A	ENST00000231130.2	+	1	14	c.14G>A	c.(13-15)gGa>gAa	p.G5E	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		5					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGCGGGAGGAGAGCGATTT	0.522000													9	63					0	0	0.000673444	0	0
PSG1	5669	broad.mit.edu	37	19	43372344	43372344	+	Silent	SNP	A	A	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:43372344A>T	ENST00000244296.2	-	5	1289	c.1152T>A	c.(1150-1152)atT>atA	p.I384I	PSG1_ENST00000595356.1_Silent_p.I384I|PSG1_ENST00000595124.1_Silent_p.I291I|PSG1_ENST00000436291.2_Silent_p.I384I|PSG1_ENST00000403380.3_Silent_p.I291I|PSG1_ENST00000312439.6_Silent_p.I384I	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GCTTTGTAGTAATATGGCGGA	0.458000													36	135					0	0	0.00128727	0	0
NDUFAF1	51103	broad.mit.edu	37	15	41689109	41689109	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:41689109G>A	ENST00000260361.4	-	2	530	c.149C>T	c.(148-150)tCc>tTc	p.S50F		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	50					mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		CCTCTGTGAGGAGGCTTTGCC	0.443000													26	123					0	0	0.000878237	0	0
IL1RL1	9173	broad.mit.edu	37	2	102957191	102957191	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:102957191G>A	ENST00000311734.2	+	5	852	c.513G>A	c.(511-513)gtG>gtA	p.V171V	IL1RL1_ENST00000393393.3_Silent_p.V171V|IL1RL1_ENST00000409584.1_Silent_p.V171V|IL1RL1_ENST00000233954.1_Silent_p.V171V|IL1RL1_ENST00000404917.2_Silent_p.V54V			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	171	Ig-like C2-type 2.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TTGATAATGTGATGACTGAGG	0.413000													9	80					0	0	0.000978159	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559123	140559123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140559123C>T	ENST00000239444.2	+	1	1753	c.1508C>T	c.(1507-1509)tCc>tTc	p.S503F		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		503	Cadherin 5.				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)			CCCCTCGCCTCCCTGGTCTCC	0.667000													15	430					0	0	0.00074312	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745513	140745513	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140745513A>G	ENST00000518069.1	+	1	1616	c.1616A>G	c.(1615-1617)aAc>aGc	p.N539S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGTGGGAACCCTCCACTT	0.557000													12	136					0	0	0.000422831	0	0
TP53	7157	broad.mit.edu	37	17	7578478	7578478	+	Missense_Mutation	SNP	G	G	A	rs137852790		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:7578478G>A	ENST00000420246.2	-	5	584	c.452C>T	c.(451-453)cCc>cTc	p.P151L	TP53_ENST00000269305.4_Missense_Mutation_p.P151L|TP53_ENST00000455263.2_Missense_Mutation_p.P151L|TP53_ENST00000445888.2_Missense_Mutation_p.P151L|TP53_ENST00000359597.4_Missense_Mutation_p.P151L|TP53_ENST00000413465.2_Missense_Mutation_p.P151L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (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.P151H(31)|p.P151R(9)|p.0?(8)|p.P151L(7)|p.T150fs*16(6)|p.?(5)|p.P58H(2)|p.P19H(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P58R(1)|p.Q144_G154del11(1)|p.P19R(1)|p.Q144fs*16(1)|p.P152fs*14(1)|p.P151fs*30(1)|p.T18fs*16(1)|p.T150_P151delTP(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)		GCCGGGCGGGGGTGTGGAATC	0.607000		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)			5	26					0	0	0.00116845	0	0
BICC1	80114	broad.mit.edu	37	10	60560789	60560789	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:60560789G>A	ENST00000373886.3	+	14	2002	c.1998G>A	c.(1996-1998)acG>acA	p.T666T	BICC1_ENST00000263103.1_Silent_p.T292T	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	666					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TGCAAGGCACGAAAAACTCAC	0.383000													7	29					0	0	0.000978159	0	0
RBPJ	3516	broad.mit.edu	37	4	26417244	26417244	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:26417244G>A	ENST00000342320.4	+	4	476	c.300G>A	c.(298-300)caG>caA	p.Q100Q	RBPJ_ENST00000504907.1_Silent_p.Q100Q|RBPJ_ENST00000507561.1_Silent_p.Q79Q|RBPJ_ENST00000342295.1_Silent_p.Q114Q|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000348160.4_Silent_p.Q101Q|RBPJ_ENST00000355476.3_Silent_p.Q100Q|RBPJ_ENST00000361572.6_Silent_p.Q114Q|RBPJ_ENST00000345843.3_Silent_p.Q99Q			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	114					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				AAATGCAGCAGCTAAACTTGG	0.398000													14	174					0	0	0.000566183	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781827	128781827	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:128781827G>A	ENST00000529694.1	+	2	1035	c.659G>A	c.(658-660)cGg>cAg	p.R220Q	KCNJ5_ENST00000338350.4_Missense_Mutation_p.R220Q|KCNJ5_ENST00000533599.1_Missense_Mutation_p.R220Q	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	220					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CTCATGTTCCGGGTGGGCGAC	0.587000													8	45					0	0	0.000274275	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66992626	66992626	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:66992626C>T	ENST00000276570.5	+	5	635	c.348C>T	c.(346-348)atC>atT	p.I116I	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	116					protein folding	membrane	heat shock protein binding|unfolded protein binding	p.I116I(1)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			TGTTTGTCATCGTTGGCCTCT	0.557000													15	38					0	0	0.000566183	0	0
PDE3A	5139	broad.mit.edu	37	12	20790115	20790115	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:20790115C>T	ENST00000359062.3	+	9	2123	c.2083C>T	c.(2083-2085)Cca>Tca	p.P695S	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	695					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TTGGAATTTTCCAATTTTTGA	0.333000													12	42					0	0	0.00185496	0	0
CNKSR1	10256	broad.mit.edu	37	1	26515987	26515987	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:26515987C>T	ENST00000531191.1	+	20	2323	c.1316C>T	c.(1315-1317)tCc>tTc	p.S439F	CNKSR1_ENST00000361530.6_Missense_Mutation_p.S697F|CNKSR1_ENST00000374253.5_Missense_Mutation_p.S704F			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	704	PH.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGAGCACTCCCATCTCTGC	0.632000													10	88					0	0	0.00136819	0	0
COL5A2	1290	broad.mit.edu	37	2	189917648	189917648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:189917648G>A	ENST00000374866.3	-	39	2924	c.2650C>T	c.(2650-2652)Cct>Tct	p.P884S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	884					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TGAGGGCCAGGGGATCCTGCT	0.493000													7	32					0	0	0.00198382	0	0
CDH13	1012	broad.mit.edu	37	16	83781718	83781718	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:83781718C>T	ENST00000566620.1	+	11	1834	c.1544C>T	c.(1543-1545)tCt>tTt	p.S515F	RP11-298D21.1_ENST00000569165.1_RNA|CDH13_ENST00000428848.3_Missense_Mutation_p.S476F|CDH13_ENST00000268613.10_Missense_Mutation_p.S562F|RP11-298D21.1_ENST00000570056.1_RNA|RP11-298D21.1_ENST00000563981.1_RNA	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	515	Cadherin 4.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TTCAGGTATTCTGTTTACAAG	0.473000													25	118					0	0	0.000692331	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140724888	140724888	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140724888C>T	ENST00000253812.6	+	1	1288	c.1288C>T	c.(1288-1290)Ccg>Tcg	p.P430S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGGGAAGCCCGCCACTGTC	0.478000													5	62					0	0	0.00116845	0	0
BPIFB3	359710	broad.mit.edu	37	20	31644491	31644491	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:31644491G>A	ENST00000375494.3	+	2	268	c.268G>A	c.(268-270)Gag>Aag	p.E90K		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	90	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										TGGCGTTGTCGAGGAGCTCTC	0.582000													5	37					0	0	0.00116845	0	0
NR2F1	7025	broad.mit.edu	37	5	92929486	92929486	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:92929486C>T	ENST00000327111.3	+	3	2897	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	404					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		AACTCTCATCCGCGATATGTT	0.587000													16	77					0	0	0.00074312	0	0
RPH3A	22895	broad.mit.edu	37	12	113319643	113319643	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:113319643G>A	ENST00000389385.4	+	15	1815	c.1318G>A	c.(1318-1320)Gcc>Acc	p.A440T	RPH3A_ENST00000551052.1_Missense_Mutation_p.A436T|RPH3A_ENST00000548866.1_Missense_Mutation_p.A391T|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000415485.3_Missense_Mutation_p.A440T|RPH3A_ENST00000420983.2_Missense_Mutation_p.A440T|RPH3A_ENST00000543106.2_Missense_Mutation_p.A440T|RPH3A_ENST00000447659.2_Missense_Mutation_p.A391T	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	440	C2 1.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CCTGCCGGGAGCCAGCAAGGT	0.582000													8	40					0	0	0.000673444	0	0
TLN2	83660	broad.mit.edu	37	15	63092632	63092632	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:63092632G>A	ENST00000561311.1	+	48	6530	c.6300G>A	c.(6298-6300)aaG>aaA	p.K2100K	TLN2_ENST00000306829.6_Silent_p.K2100K			Q9Y4G6	TLN2_HUMAN	talin 2	2100					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GTGCTACCAAGGGAGCTGCCA	0.557000													13	65					0	0	0.00185496	0	0
SLC2A7	155184	broad.mit.edu	37	1	9078381	9078381	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:9078381G>A	ENST00000400906.1	-	5	489	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	164						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		ATGCCTCTCAGGTTCTTGGGG	0.577000													7	43					0	0	0.00198382	0	0
KIAA1217	56243	broad.mit.edu	37	10	24810719	24810719	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:24810719C>T	ENST00000376451.2	+	7	1626	c.1366C>T	c.(1366-1368)Cca>Tca	p.P456S	KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P456S|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P738S|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P693S|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P456S|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P456S|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P773S|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P738S			Q5T5P2	SKT_HUMAN	KIAA1217	773					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGGAGAATTTCCAACCTTACA	0.537000													28	118					0	0	0.00127121	0	0
PNPLA5	150379	broad.mit.edu	37	22	44277535	44277535	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:44277535C>T	ENST00000216177.4	-	8	1234	c.1102G>A	c.(1102-1104)Gat>Aat	p.D368N	PNPLA5_ENST00000593866.1_Missense_Mutation_p.D254N|PNPLA5_ENST00000381198.2_Missense_Mutation_p.D254N|PNPLA5_ENST00000597664.1_Missense_Mutation_p.D368N	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	368					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GCCGGCACATCGGGCAGCCAC	0.657000													4	12					0	0	0.000602214	0	0
PTER	9317	broad.mit.edu	37	10	16547034	16547034	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:16547034G>A	ENST00000378000.1	+	5	960	c.714G>A	c.(712-714)aaG>aaA	p.K238K	PTER_ENST00000423462.2_Intron|PTER_ENST00000298942.3_Silent_p.K238K|PTER_ENST00000535784.2_Silent_p.K238K	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	238					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						TTCTTGATAAGAAAGAGCTCT	0.388000													8	113					0	0	0.00136819	0	0
CA3	761	broad.mit.edu	37	8	86356323	86356323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:86356323G>A	ENST00000285381.2	+	4	495	c.412G>A	c.(412-414)Gat>Aat	p.D138N	RP11-317J10.2_ENST00000521761.1_RNA|RP11-317J10.2_ENST00000517697.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	138					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	p.D138Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GAAGCAGCGCGATGGGATCGC	0.383000													7	62					0	0	0.000157383	0	0
CXCL12	6387	broad.mit.edu	37	10	44871427	44871427	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:44871427C>T	ENST00000374426.2	-	4	357	c.320G>A	c.(319-321)cGa>cAa	p.R107Q	CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000395795.4_Intron	NM_001033886.2	NP_001029058.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	0					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	CTTCTTCTGTCGCTTCTTTTT	0.393000													30	328					0	0	0.00209593	0	0
SLC1A7	6512	broad.mit.edu	37	1	53558264	53558264	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:53558264G>A	ENST00000371494.4	-	7	1120	c.993C>T	c.(991-993)atC>atT	p.I331I		NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	331						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GAGCCTGCAGGATGCCACGGA	0.642000													4	18					0	0	0.00024832	0	0
EDA	1896	broad.mit.edu	37	X	69255459	69255459	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:69255459G>A	ENST00000374552.4	+	8	1418	c.1176G>A	c.(1174-1176)taG>taA	p.*392*	EDA_ENST00000524573.1_Silent_p.*387*|EDA_ENST00000374553.2_Silent_p.*390*	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	0					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						CTGCATCCTAGATTCCCCCCA	0.567000													10	28					0	0	0.00136819	0	0
KDELC1	79070	broad.mit.edu	37	13	103445760	103445760	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:103445760G>A	ENST00000376004.4	-	4	939	c.603C>T	c.(601-603)atC>atT	p.I201I	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	201						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CATGAGTCTTGATATAAACCT	0.343000													35	167					0	0	0.000953801	0	0
GPR50	9248	broad.mit.edu	37	X	150349595	150349595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:150349595G>A	ENST00000218316.3	+	2	1609	c.1540G>A	c.(1540-1542)Gag>Aag	p.E514K		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	514	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCCATGCTGAGCCCACCAC	0.607000													7	19					0	0	0.000157383	0	0
PXDNL	137902	broad.mit.edu	37	8	52320917	52320917	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:52320917G>A	ENST00000356297.4	-	17	3367	c.3267C>T	c.(3265-3267)tcC>tcT	p.S1089S	PXDNL_ENST00000543296.1_Silent_p.S1089S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1089					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGATTATTCTGGACGGTGAAA	0.517000													8	37					0	0	0.000274275	0	0
CTNND1	1500	broad.mit.edu	37	11	57576844	57576844	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:57576844A>T	ENST00000524630.1	+	14	2836	c.2323A>T	c.(2323-2325)Act>Tct	p.T775S	CTNND1_ENST00000529919.1_Missense_Mutation_p.T781S|CTNND1_ENST00000533667.1_Missense_Mutation_p.T452S|CTNND1_ENST00000428599.2_Missense_Mutation_p.T775S|CTNND1_ENST00000526357.1_Missense_Mutation_p.T721S|CTNND1_ENST00000532463.1_Missense_Mutation_p.T674S|CTNND1_ENST00000529873.1_Missense_Mutation_p.T721S|CTNND1_ENST00000529986.1_Missense_Mutation_p.T674S|CTNND1_ENST00000532245.1_Missense_Mutation_p.T674S|CTNND1_ENST00000526772.1_Missense_Mutation_p.T452S|CTNND1_ENST00000399050.4_Missense_Mutation_p.T781S|CTNND1_ENST00000526938.1_Missense_Mutation_p.T781S|CTNND1_ENST00000361332.4_Missense_Mutation_p.T775S|CTNND1_ENST00000361796.4_Missense_Mutation_p.T775S|CTNND1_ENST00000360682.6_Missense_Mutation_p.T781S|CTNND1_ENST00000361391.6_Missense_Mutation_p.T775S|CTNND1_ENST00000534579.1_Missense_Mutation_p.T721S|CTNND1_ENST00000528621.1_Missense_Mutation_p.T721S|CTNND1_ENST00000415361.2_Missense_Mutation_p.T680S|CTNND1_ENST00000525902.1_Missense_Mutation_p.T458S|CTNND1_ENST00000532649.1_Missense_Mutation_p.T721S|CTNND1_ENST00000530748.1_Missense_Mutation_p.T727S|CTNND1_ENST00000527467.1_Missense_Mutation_p.T458S|CTNND1_ENST00000530094.1_Missense_Mutation_p.T674S|CTNND1_ENST00000529526.1_Missense_Mutation_p.T721S|CTNND1_ENST00000528232.1_Missense_Mutation_p.T680S|CTNND1_ENST00000426142.2_Missense_Mutation_p.T674S|CTNND1_ENST00000399039.4_Missense_Mutation_p.T781S|CTNND1_ENST00000532844.1_Missense_Mutation_p.T727S|CTNND1_ENST00000358694.6_Missense_Mutation_p.T775S|CTNND1_ENST00000532787.1_Missense_Mutation_p.T674S|CTNND1_ENST00000531014.1_Missense_Mutation_p.T452S			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	781					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TATTTTGAACACTATCAACGA	0.448000													7	70					0	0	0.00198382	0	0
BACE2	25825	broad.mit.edu	37	21	42615318	42615318	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:42615318G>A	ENST00000330333.6	+	5	1226	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_Missense_Mutation_p.E255K|BACE2_ENST00000347667.4_Missense_Mutation_p.E255K	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	255					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GGGTGGAATTGAACCAAGTTT	0.388000													14	79					0	0	0.00074312	0	0
SH3RF2	153769	broad.mit.edu	37	5	145442053	145442053	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:145442053C>T	ENST00000511217.1	+	9	2031	c.1979C>T	c.(1978-1980)cCc>cTc	p.P660L	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Missense_Mutation_p.P660L			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	660							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTCCCATCCCACCTCCGGA	0.552000													10	54					0	0	0.000442599	0	0
VCAN	1462	broad.mit.edu	37	5	82808152	82808152	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:82808152C>T	ENST00000265077.3	+	6	1544	c.979C>T	c.(979-981)Cgt>Tgt	p.R327C	VCAN_ENST00000343200.5_Missense_Mutation_p.R327C|VCAN_ENST00000342785.4_Missense_Mutation_p.R327C|VCAN_ENST00000513984.1_Missense_Mutation_p.R327C|VCAN_ENST00000512590.2_Missense_Mutation_p.R279C|VCAN_ENST00000502527.2_Missense_Mutation_p.R327C	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	327	Link 2.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AACCCTGTATCGTTTTGAGAA	0.507000													11	38					0	0	0.00244969	0	0
GPR83	10888	broad.mit.edu	37	11	94113452	94113452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:94113452G>A	ENST00000243673.2	-	4	1306	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	GPR83_ENST00000539203.2_Missense_Mutation_p.P337S	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	379						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTGAAGGAAGGAACTGGGGAG	0.562000													11	51					0	0	0.00136819	0	0
CRX	1406	broad.mit.edu	37	19	48342764	48342764	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:48342764C>T	ENST00000221996.7	+	4	646	c.440C>T	c.(439-441)cCc>cTc	p.P147L	CRX_ENST00000539067.1_Missense_Mutation_p.P147L|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	147			Missing (in LCA7).		organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CCCCCTCTGCCCGGCCCCTCA	0.672000													8	45					0	0	0.000978159	0	0
TPO	7173	broad.mit.edu	37	2	1491699	1491699	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:1491699C>T	ENST00000345913.4	+	10	1795	c.1704C>T	c.(1702-1704)tcC>tcT	p.S568S	TPO_ENST00000346956.3_Silent_p.S568S|TPO_ENST00000349624.3_Silent_p.S395S|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Silent_p.S568S|TPO_ENST00000337415.3_Silent_p.S568S|TPO_ENST00000382198.1_Silent_p.S395S|TPO_ENST00000382201.3_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	568					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TTGTGCTGTCCAATTCCAGCA	0.582000													12	69					0	0	0.000978159	0	0
SI	6476	broad.mit.edu	37	3	164764689	164764689	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:164764689C>T	ENST00000264382.3	-	16	1889	c.1827G>A	c.(1825-1827)tgG>tgA	p.W609*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	609	Isomaltase.				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)	CCATTTGTTCCCATGAAGCAG	0.393000										HNSCC(35;0.089)			9	64					0	0	0.000673444	0	0
THEMIS	387357	broad.mit.edu	37	6	128150694	128150694	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:128150694C>T	ENST00000368250.1	-	4	897	c.399G>A	c.(397-399)acG>acA	p.T133T	THEMIS_ENST00000543064.1_Silent_p.T212T|THEMIS_ENST00000537166.1_Silent_p.T177T|THEMIS_ENST00000368248.2_Silent_p.T212T			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	212	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GAAATGGATTCGTTGAGTCCC	0.353000													19	87					0	0	0.00152264	0	0
GPR97	222487	broad.mit.edu	37	16	57717958	57717958	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:57717958G>A	ENST00000333493.4	+	9	1157	c.996G>A	c.(994-996)aaG>aaA	p.K332K	GPR97_ENST00000450388.3_Silent_p.K212K|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000327655.6_Silent_p.K122K	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	332					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTGGCTCAAAGGGGTCTGATG	0.597000													6	53					0	0	0.00198382	0	0
OR52A1	23538	broad.mit.edu	37	11	5173466	5173466	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:5173466G>A	ENST00000380367.1	-	2	551	c.134C>T	c.(133-135)tCc>tTc	p.S45F	OR52A1_ENST00000328942.1_Missense_Mutation_p.S45F			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	45					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAAGCAAGGAATTTCCAAT	0.468000													7	51					0	0	0.000157383	0	0
NPR3	4883	broad.mit.edu	37	5	32739084	32739084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:32739084C>T	ENST00000265074.8	+	3	1350	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	NPR3_ENST00000434067.2_Missense_Mutation_p.S120F|NPR3_ENST00000415167.2_Missense_Mutation_p.S336F|NPR3_ENST00000415685.2_Missense_Mutation_p.S120F	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	336					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GAGAAGTTTTCCATGGAGGTG	0.443000													14	101					0	0	0.00185496	0	0
LMO2	4005	broad.mit.edu	37	11	33886175	33886175	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:33886175C>T	ENST00000257818.2	-	5	1266	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	LMO2_ENST00000395833.3_Missense_Mutation_p.R77Q	NM_005574.3	NP_005565.2	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	77	LIM zinc-binding 2.				multicellular organismal development	nucleus	protein binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						GCAGAGCTTCCGGCCCAGTTT	0.652000			T	TRD@	T-ALL								7	33					0	0	0.000274275	0	0
LAMA2	3908	broad.mit.edu	37	6	129837342	129837342	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:129837342C>T	ENST00000421865.2	+	65	9268	c.9219C>T	c.(9217-9219)ctC>ctT	p.L3073L		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	3073	Laminin G-like 5.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAGATGACCTCAAGCAGTTTG	0.448000													29	236					0	0	0.000814825	0	0
FREM1	158326	broad.mit.edu	37	9	14801666	14801666	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:14801666C>T	ENST00000380881.4	-	21	4496	c.3681G>A	c.(3679-3681)atG>atA	p.M1227I	FREM1_ENST00000380880.3_Missense_Mutation_p.M1226I|FREM1_ENST00000422223.2_Missense_Mutation_p.M1226I			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1226					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGAGGAGTTCCATGGAAAAGC	0.413000													8	28					0	0	0.000673444	0	0
TSPYL6	388951	broad.mit.edu	37	2	54483120	54483120	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:54483120C>T	ENST00000317802.7	-	1	289	c.169G>A	c.(169-171)Gag>Aag	p.E57K	ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	57					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						GCGACCCCCTCCTCTGGAAGC	0.602000													13	79					0	0	0.00074312	0	0
MXRA5	25878	broad.mit.edu	37	X	3242419	3242419	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:3242419G>A	ENST00000217939.6	-	5	1461	c.1307C>T	c.(1306-1308)tCc>tTc	p.S436F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	436						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GATATCTATGGATGGCTGCAT	0.483000													16	40					0	0	0.00121646	0	0
SYT16	83851	broad.mit.edu	37	14	62463248	62463248	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:62463248G>A	ENST00000430451.2	+	1	708	c.511G>A	c.(511-513)Gga>Aga	p.G171R	SYT16_ENST00000446982.2_Missense_Mutation_p.G171R	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	171										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AACTGTTAATGGAAAAAAGCA	0.398000													9	69					0	0	0.000978159	0	0
C20orf196	149840	broad.mit.edu	37	20	5843758	5843758	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:5843758G>A	ENST00000303142.6	+	3	354	c.267G>A	c.(265-267)aaG>aaA	p.K89K		NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	89										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						AGTCAGAGAAGGAAGAGGATG	0.463000													10	62					0	0	0.000978159	0	0
TRIM42	287015	broad.mit.edu	37	3	140409882	140409882	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:140409882C>T	ENST00000286349.3	+	4	2124	c.1933C>T	c.(1933-1935)Cct>Tct	p.P645S		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	645	Fibronectin type-III.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TACTTCTCCTCCTAACAACGT	0.433000													9	72					0	0	0.00136819	0	0
DNAH5	1767	broad.mit.edu	37	5	13721327	13721327	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:13721327C>T	ENST00000265104.4	-	71	12165	c.12061G>A	c.(12061-12063)Gga>Aga	p.G4021R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4021	AAA 6 (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)					TATTTTTCTCCCATGGAGTCC	0.453000									Kartagener syndrome				5	40					0	0	0.000602214	0	0
SH3RF1	57630	broad.mit.edu	37	4	170077757	170077757	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:170077757C>T	ENST00000284637.9	-	3	808	c.467G>A	c.(466-468)aGc>aAc	p.S156N	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	156	SH3 1.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GTCACCTTTGCTGAATTTAAG	0.398000													7	84					0	0	0.00198382	0	0
TCL6	27004	broad.mit.edu	37	14	96137710	96137710	+	RNA	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:96137710C>T	ENST00000467865.1	+	0	2067				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		ctgtctcattcgcctctggat	0.468000			T	TRA@	T-ALL								7	21					0	0	0.000442599	0	0
FAM47E-STBD1	100631383	broad.mit.edu	37	4	77230768	77230768	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:77230768G>A	ENST00000237642.6	+	2	1436	c.692G>A	c.(691-693)gGa>gAa	p.G231E	FAM47E-STBD1_ENST00000539752.1_Missense_Mutation_p.G82E|FAM47E_ENST00000515604.1_3'UTR	NM_003943.4	NP_003934.1																					CTAAACCAGGGAATGGACAAT	0.517000													4	27					0	0	0.00024832	0	0
FCAR	2204	broad.mit.edu	37	19	55396927	55396927	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:55396927G>A	ENST00000355524.3	+	3	361	c.351G>A	c.(349-351)ctG>ctA	p.L117L	FCAR_ENST00000391726.3_Silent_p.L105L|FCAR_ENST00000359272.4_Silent_p.L105L|FCAR_ENST00000469767.1_Silent_p.L117L|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000345937.4_Silent_p.L117L|FCAR_ENST00000391725.3_Silent_p.L117L|FCAR_ENST00000391723.3_Silent_p.L105L|FCAR_ENST00000391724.3_Silent_p.L105L	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	117					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CCCTGGAGCTGGTAGTGACAG	0.433000													5	39					0	0	0.000602214	0	0
GCKR	2646	broad.mit.edu	37	2	27731106	27731106	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:27731106G>A	ENST00000264717.2	+	16	1473	c.1410G>A	c.(1408-1410)ggG>ggA	p.G470G	GCKR_ENST00000424318.2_Silent_p.G280G	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	470	SIS 2.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					AATATGAAGGGAACTTCATCC	0.493000													10	86					0	0	0.00136819	0	0
MED23	9439	broad.mit.edu	37	6	131944520	131944520	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:131944520G>A	ENST00000403834.3	-	5	540	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	MED23_ENST00000368058.1_Missense_Mutation_p.R123W|MED23_ENST00000354577.4_Missense_Mutation_p.R123W|MED23_ENST00000368060.3_Missense_Mutation_p.R123W|MED23_ENST00000540546.1_Missense_Mutation_p.R123W|MED23_ENST00000368053.4_Missense_Mutation_p.R123W|MED23_ENST00000539158.1_Missense_Mutation_p.R123W|MED23_ENST00000368068.3_Missense_Mutation_p.R123W			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	123					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ATTATTTTCCGAACCAGTTTA	0.343000													8	85					0	0	0.000978159	0	0
SCN2A	6326	broad.mit.edu	37	2	166172225	166172225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:166172225G>A	ENST00000375437.2	+	11	1918	c.1628G>A	c.(1627-1629)gGa>gAa	p.G543E	SCN2A_ENST00000375427.2_Missense_Mutation_p.G543E|SCN2A_ENST00000283256.6_Missense_Mutation_p.G543E|SCN2A_ENST00000357398.3_Missense_Mutation_p.G543E	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	543					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TCCTTGGAAGGAAGTAGGCTG	0.338000													19	91					0	0	0.00152264	0	0
DLEC1	9940	broad.mit.edu	37	3	38141900	38141900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:38141900G>A	ENST00000308059.6	+	19	2869	c.2848G>A	c.(2848-2850)Gaa>Aaa	p.E950K	DLEC1_ENST00000346219.3_Missense_Mutation_p.E950K|DLEC1_ENST00000452631.2_Missense_Mutation_p.E950K			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	950					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GCTGGAGGTGGAAAATGGTGC	0.502000													8	61					0	0	0.000673444	0	0
SCN11A	11280	broad.mit.edu	37	3	38936173	38936173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:38936173C>T	ENST00000450244.1	-	15	2884	c.2686G>A	c.(2686-2688)Gag>Aag	p.E896K	SCN11A_ENST00000444237.2_Missense_Mutation_p.E896K|SCN11A_ENST00000456224.3_Missense_Mutation_p.E896K|SCN11A_ENST00000302328.3_Missense_Mutation_p.E896K			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	896					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATACCAAGCTCCTCCTGGGTC	0.517000													5	53					0	0	0.000602214	0	0
C8B	732	broad.mit.edu	37	1	57425727	57425727	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:57425727G>A	ENST00000543257.1	-	3	625	c.59C>T	c.(58-60)tCt>tTt	p.S20F	C8B_ENST00000535057.1_5'UTR|C8B_ENST00000371237.4_Missense_Mutation_p.S72F	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	72					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGTGGTCCAAGAGGACCAACT	0.522000													6	31					0	0	0.00198382	0	0
ADRA2B	151	broad.mit.edu	37	2	96781752	96781752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:96781752G>A	ENST00000409345.3	-	1	232	c.137C>T	c.(136-138)cCt>cTt	p.P46L		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	46					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CAGGTTCTGAGGGGCGCGCAG	0.632000													4	20					0	0	0.000602214	0	0
NRDE2	55051	broad.mit.edu	37	14	90769098	90769098	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:90769098G>A	ENST00000354366.3	-	6	1609	c.1377C>T	c.(1375-1377)caC>caT	p.H459H	NRDE2_ENST00000357904.3_Silent_p.H228H	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		GCAACGCAGGGTGAGATAAGA	0.433000													5	52					0	0	0.000602214	0	0
ITGA1	3672	broad.mit.edu	37	5	52235711	52235711	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:52235711C>T	ENST00000282588.6	+	26	3680	c.3222C>T	c.(3220-3222)ctC>ctT	p.L1074L	CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	1074					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CATGTAATCTCACTTCTTCTG	0.313000													8	61					0	0	0.000673444	0	0
GIMAP8	155038	broad.mit.edu	37	7	150163938	150163938	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:150163938G>A	ENST00000307271.3	+	2	726	c.152G>A	c.(151-153)aGa>aAa	p.R51K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	51						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		ATGTGCCAGAGAGAGAGTTGG	0.468000													13	112					0	0	0.000422831	0	0
TMEM202	338949	broad.mit.edu	37	15	72699430	72699430	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:72699430C>T	ENST00000341689.3	+	4	545	c.491C>T	c.(490-492)aCc>aTc	p.T164I	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	164						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						GTCCTAGCTACCTGCTTGCTC	0.517000													13	67					0	0	0.000958276	0	0
DNMT3B	1789	broad.mit.edu	37	20	31395665	31395665	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:31395665C>T	ENST00000328111.2	+	23	2839	c.2518C>T	c.(2518-2520)Cga>Tga	p.R840*	DNMT3B_ENST00000344505.4_Missense_Mutation_p.P780L|DNMT3B_ENST00000348286.2_Nonsense_Mutation_p.R757*|DNMT3B_ENST00000201963.3_Nonsense_Mutation_p.R832*|DNMT3B_ENST00000456297.2_Nonsense_Mutation_p.R681*|DNMT3B_ENST00000353855.2_Nonsense_Mutation_p.R820*|DNMT3B_ENST00000443239.3_Nonsense_Mutation_p.R715*	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	840			R -> Q (in ICF).		negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCTGTCATCCGACACCTCTT	0.602000													16	71					0	0	0.000958276	0	0
ITFG1	81533	broad.mit.edu	37	16	47399758	47399758	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:47399758G>A	ENST00000320640.6	-	8	971	c.743C>T	c.(742-744)aCt>aTt	p.T248I	ITFG1_ENST00000544001.2_Missense_Mutation_p.T135I	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	248						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TTCCAATATAGTACTGACAGA	0.323000													14	66					0	0	0.00121646	0	0
INPP5D	3635	broad.mit.edu	37	2	234079217	234079217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:234079217G>A	ENST00000359570.5	+	18	1831	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K	INPP5D_ENST00000450745.1_Missense_Mutation_p.E375K|INPP5D_ENST00000538935.1_3'UTR|INPP5D_ENST00000455936.2_Missense_Mutation_p.E375K			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	623					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCTGCTCACAGAGAGGAGGGA	0.577000													6	40					0	0	0.00198382	0	0
UNC93A	54346	broad.mit.edu	37	6	167719430	167719430	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:167719430C>T	ENST00000230256.3	+	6	1043	c.868C>T	c.(868-870)Cag>Tag	p.Q290*	UNC93A_ENST00000366829.2_Nonsense_Mutation_p.Q248*	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	290						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCTGGGCATCCAGTTCGTCGG	0.612000													12	141					0	0	0.00136819	0	0
CBS	875	broad.mit.edu	37	21	44492176	44492176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:44492176C>T	ENST00000398165.3	-	3	387	c.128G>A	c.(127-129)tGg>tAg	p.W43*	CBS_ENST00000398168.1_Nonsense_Mutation_p.W43*|CBS_ENST00000398158.1_Nonsense_Mutation_p.W43*|CBS_ENST00000359624.3_Nonsense_Mutation_p.W43*|CBS_ENST00000470912.1_5'UTR|CBS_ENST00000352178.5_Nonsense_Mutation_p.W43*	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	43					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)	GGGCCGGATCCACAGGGGCTC	0.677000													11	187					0	0	0.00136819	0	0
RASGRP1	10125	broad.mit.edu	37	15	38811524	38811524	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:38811524G>A	ENST00000310803.5	-	4	552	c.375C>T	c.(373-375)atC>atT	p.I125I	RASGRP1_ENST00000558164.1_Silent_p.I125I|RASGRP1_ENST00000450598.2_Silent_p.I125I|RASGRP1_ENST00000539159.1_Silent_p.I77I|RASGRP1_ENST00000559830.1_Silent_p.I125I|RASGRP1_ENST00000561180.1_Silent_p.I176I	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	125	N-terminal Ras-GEF.				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CAAAATAACAGATCTTCAGGC	0.423000													19	87					0	0	0.00278032	0	0
PGM5	5239	broad.mit.edu	37	9	71114251	71114251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:71114251C>T	ENST00000396396.1	+	10	1817	c.1588C>T	c.(1588-1590)Ccc>Tcc	p.P530S		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	530					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CGAGAGGGATCCCAGCGGCCA	0.572000													6	22					0	0	0.00198382	0	0
FRMPD2	143162	broad.mit.edu	37	10	49450299	49450299	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:49450299A>C	ENST00000374201.3	-	5	774	c.472T>G	c.(472-474)Tgt>Ggt	p.C158G	FRMPD2_ENST00000305531.3_Missense_Mutation_p.C134G|FRMPD2_ENST00000407470.4_Missense_Mutation_p.C127G	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	158	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TGAACCCGACAAGCTTCCAGA	0.582000													8	67					0	0	0.000274275	0	0
SYTL3	94120	broad.mit.edu	37	6	159181674	159181674	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:159181674G>A	ENST00000297239.9	+	14	1505	c.1311G>A	c.(1309-1311)gcG>gcA	p.A437A	SYTL3_ENST00000367081.3_Silent_p.A163A|SYTL3_ENST00000360448.3_Silent_p.A369A			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	437					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		GTCCCCAGGCGGAGAAATACG	0.552000													6	45					0	0	0.000442599	0	0
TRIM42	287015	broad.mit.edu	37	3	140409883	140409883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:140409883C>T	ENST00000286349.3	+	4	2125	c.1934C>T	c.(1933-1935)cCt>cTt	p.P645L		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	645	Fibronectin type-III.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ACTTCTCCTCCTAACAACGTA	0.428000													10	72					0	0	0.00185496	0	0
PCDHA2	56146	broad.mit.edu	37	5	140174900	140174900	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140174900C>T	ENST00000526136.1	+	1	351	c.351C>T	c.(349-351)ttC>ttT	p.F117F	PCDHA2_ENST00000378132.1_Silent_p.F117F|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.F117F	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGTTTTCCATGTGGAAG	0.532000													16	154					0	0	0.000566183	0	0
TRPM2	7226	broad.mit.edu	37	21	45837845	45837845	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:45837845A>G	ENST00000397928.1	+	21	3627	c.3182A>G	c.(3181-3183)cAg>cGg	p.Q1061R	TRPM2_ENST00000300481.9_Missense_Mutation_p.Q1041R|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.Q1061R|TRPM2_ENST00000397932.2_Missense_Mutation_p.Q1061R	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1061						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CACACGGACCAGATTTGGAAG	0.617000													6	44					0	0	0.000157383	0	0
CSMD1	64478	broad.mit.edu	37	8	3443759	3443759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:3443759G>A	ENST00000520002.1	-	10	1679	c.1124C>T	c.(1123-1125)tCa>tTa	p.S375L	CSMD1_ENST00000602723.1_Missense_Mutation_p.S375L|CSMD1_ENST00000542608.1_Missense_Mutation_p.S374L|CSMD1_ENST00000539096.1_Missense_Mutation_p.S374L|CSMD1_ENST00000537824.1_Missense_Mutation_p.S374L|CSMD1_ENST00000400186.3_Missense_Mutation_p.S375L|CSMD1_ENST00000602557.1_Missense_Mutation_p.S375L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	375	Sushi 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTCCTCACATGAAAACTGTAC	0.408000													6	26					0	0	0.00198382	0	0
FAM175B	23172	broad.mit.edu	37	10	126523103	126523103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:126523103C>T	ENST00000298492.5	+	9	856	c.811C>T	c.(811-813)Ccg>Tcg	p.P271S		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	271						BRISC complex	polyubiquitin binding			NS(1)	1						CAGACAGATGCCGTCTGAAAG	0.478000													6	43					0	0	0.00116845	0	0
FYB	2533	broad.mit.edu	37	5	39153648	39153648	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:39153648G>A	ENST00000351578.6	-	3	1384	c.1194C>T	c.(1192-1194)tcC>tcT	p.S398S	FYB_ENST00000512982.1_Silent_p.S398S|FYB_ENST00000540520.1_Silent_p.S408S|FYB_ENST00000505428.1_Silent_p.S398S|FYB_ENST00000515010.1_Silent_p.S398S	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	398	Interaction with SKAP1.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCCGGATGGGATGGTGGAG	0.488000													21	101					0	0	0.00152264	0	0
TP53	7157	broad.mit.edu	37	17	7579717	7579717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:7579717G>A	ENST00000420246.2	-	3	211	c.79C>T	c.(79-81)Cct>Tct	p.P27S	TP53_ENST00000269305.4_Missense_Mutation_p.P27S|TP53_ENST00000455263.2_Missense_Mutation_p.P27S|TP53_ENST00000445888.2_Missense_Mutation_p.P27S|TP53_ENST00000359597.4_Missense_Mutation_p.P27S|TP53_ENST00000413465.2_Missense_Mutation_p.P27S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	27	Interaction with HRMT1L2.|Transcription activation (acidic).				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.0?(8)|p.P27fs*17(2)|p.P13fs*18(1)|p.L26fs*11(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)		TTGTTTTCAGGAAGTCTGAAA	0.622000		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)			5	28					0	0	0.000157383	0	0
SYT4	6860	broad.mit.edu	37	18	40851750	40851750	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:40851750G>A	ENST00000255224.3	-	3	1265	c.897C>T	c.(895-897)tcC>tcT	p.S299S	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.S281S	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	299	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TGTTTGTGGTGGACTGATAGC	0.393000													7	45					0	0	0.000157383	0	0
IGHV3-48	28424	broad.mit.edu	37	14	106994268	106994268	+	RNA	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:106994268G>A	ENST00000390624.2	-	0	78																											CCAACTCCATGGTGAGTCCTC	0.483000													9	90					0	0	0.000673444	0	0
FAM135B	51059	broad.mit.edu	37	8	139164741	139164741	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:139164741C>T	ENST00000395297.1	-	13	2147	c.1977G>A	c.(1975-1977)aaG>aaA	p.K659K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	659										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGTGAGAGTCCTTTAGGGAAG	0.493000										HNSCC(54;0.14)			5	79					0	0	0.000602214	0	0
MYBPC1	4604	broad.mit.edu	37	12	102045123	102045123	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:102045123G>A	ENST00000549145.1	+	15	1542	c.1442G>A	c.(1441-1443)gGc>gAc	p.G481D	MYBPC1_ENST00000553190.1_Missense_Mutation_p.G468D|MYBPC1_ENST00000551300.1_Missense_Mutation_p.G369D|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.G468D|MYBPC1_ENST00000361685.2_Missense_Mutation_p.G493D|MYBPC1_ENST00000547509.1_Missense_Mutation_p.G454D|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000547405.1_Missense_Mutation_p.G442D|MYBPC1_ENST00000545503.2_Missense_Mutation_p.G468D|MYBPC1_ENST00000541119.1_Missense_Mutation_p.G456D|MYBPC1_ENST00000536007.1_Missense_Mutation_p.G449D|MYBPC1_ENST00000441232.1_Missense_Mutation_p.G468D|MYBPC1_ENST00000392934.3_Missense_Mutation_p.G455D|MYBPC1_ENST00000361466.2_Missense_Mutation_p.G493D|MYBPC1_ENST00000360610.2_Missense_Mutation_p.G468D|MYBPC1_ENST00000452455.2_Missense_Mutation_p.G468D			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	468	Ig-like C2-type 4.		H -> Q (in dbSNP:rs3817552).		cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ACTAAAAATGGCCTACCTGTT	0.443000													19	121					0	0	0.000586117	0	0
UNC13C	440279	broad.mit.edu	37	15	54307482	54307482	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:54307482C>T	ENST00000545554.1	+	1	2382	c.2382C>T	c.(2380-2382)ttC>ttT	p.F794F	UNC13C_ENST00000537900.1_Silent_p.F794F|UNC13C_ENST00000260323.11_Silent_p.F794F			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	794					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTTTCAGCTTCCCAAAATTTG	0.438000													8	12					0	0	0.000274275	0	0
FCGBP	8857	broad.mit.edu	37	19	40399431	40399431	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:40399431G>A	ENST00000221347.6	-	13	6271	c.6264C>T	c.(6262-6264)ttC>ttT	p.F2088F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2088	VWFD 5.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTTGGAAATTGAATCGGTGCC	0.632000													14	36					0	0	0.00244969	0	0
OR4A15	81328	broad.mit.edu	37	11	55135834	55135834	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:55135834C>T	ENST00000314706.3	+	1	475	c.475C>T	c.(475-477)Cat>Tat	p.H159Y		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TAAGCCTCTTCATGAATTGAT	0.413000													10	91					0	0	0.000673444	0	0
JAK3	3718	broad.mit.edu	37	19	17943659	17943659	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:17943659G>A	ENST00000458235.1	-	18	2529	c.2430C>T	c.(2428-2430)gcC>gcT	p.A810A	JAK3_ENST00000534444.1_Silent_p.A810A|JAK3_ENST00000527670.1_Silent_p.A810A	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	810					B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GGTCTTGGCAGGCATAGAGCT	0.627000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								9	37					0	0	0.000274275	0	0
SOGA3	387104	broad.mit.edu	37	6	127796726	127796726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:127796726C>T	ENST00000556132.1	-	6	3309	c.2445G>A	c.(2443-2445)atG>atA	p.M815I	SOGA3_ENST00000465909.2_Missense_Mutation_p.M815I|SOGA3_ENST00000481848.2_Missense_Mutation_p.M815I|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000368268.2_Missense_Mutation_p.M815I|SOGA3_ENST00000525778.1_Missense_Mutation_p.M815I	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	815						integral to membrane											GGATGTCCTTCATCTGCTGCC	0.672000													10	82					0	0	0.000978159	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907563	12907563	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:12907563C>T	ENST00000317869.6	-	2	805	c.580G>A	c.(580-582)Gtg>Atg	p.V194M		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						AGAGAATCCACTTTCTGTTTT	0.433000													19	169					0	0	0.00229938	0	0
BSCL2	26580	broad.mit.edu	37	11	62474646	62474646	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:62474646G>A	ENST00000433053.1	-	2	578	c.22C>T	c.(22-24)Caa>Taa	p.Q8*	RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000405837.1_Nonsense_Mutation_p.Q8*|BSCL2_ENST00000360796.5_Nonsense_Mutation_p.Q8*			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	332					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						TCCTCCTTTTGGTCTACCTTT	0.517000													65	315					0	0	0.000781405	0	0
HIPK4	147746	broad.mit.edu	37	19	40889916	40889916	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:40889916C>T	ENST00000291823.2	-	2	880	c.596G>A	c.(595-597)tGg>tAg	p.W199*		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	199	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GCCCAGGGACCACACGTCCAC	0.642000													5	37					0	0	0.00116845	0	0
MYCT1	80177	broad.mit.edu	37	6	153043241	153043241	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:153043241C>T	ENST00000367245.5	+	2	569	c.561C>T	c.(559-561)ctC>ctT	p.L187L	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	187						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TGGTGACTCTCCCTTCTTCCA	0.493000													9	45					0	0	0.000673444	0	0
RYR2	6262	broad.mit.edu	37	1	237801734	237801734	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:237801734G>A	ENST00000366574.2	+	45	7187	c.6870G>A	c.(6868-6870)tgG>tgA	p.W2290*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.W2274*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.W2288*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2290	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACATTGGGTGGAACCCAGTTG	0.403000													11	178					0	0	0.00185496	0	0
DSC1	1823	broad.mit.edu	37	18	28734748	28734748	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:28734748C>T	ENST00000257197.3	-	5	877	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	DSC1_ENST00000257198.5_Missense_Mutation_p.E206K|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	206	Cadherin 1.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GCAAACTGTTCATATTTCTCA	0.328000													7	27					0	0	0.000274275	0	0
XDH	7498	broad.mit.edu	37	2	31604543	31604543	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:31604543G>A	ENST00000379416.3	-	12	1136	c.1088C>T	c.(1087-1089)cCc>cTc	p.P363L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	363	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CATGAACACGGGGTTGAGGTC	0.577000													6	25					0	0	0.000157383	0	0
CCDC73	493860	broad.mit.edu	37	11	32632752	32632752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:32632752G>A	ENST00000335185.5	-	17	2999	c.2956C>T	c.(2956-2958)Ccc>Tcc	p.P986S		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	986										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TCTCCCTTGGGATCTGGATGG	0.383000													25	95					0	0	0.00278032	0	0
GABRQ	55879	broad.mit.edu	37	X	151821657	151821657	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:151821657C>T	ENST00000370306.2	+	9	1832	c.1812C>T	c.(1810-1812)gtC>gtT	p.V604V		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	604						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CTGACTACGTCCCAAAGGTCG	0.512000													8	32					0	0	0.000274275	0	0
TPST2	8459	broad.mit.edu	37	22	26937078	26937078	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:26937078G>A	ENST00000338754.4	-	3	789	c.519C>T	c.(517-519)ttC>ttT	p.F173F	TPST2_ENST00000398110.2_Silent_p.F173F|TPST2_ENST00000403880.1_Silent_p.F173F	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	173					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TGGAGTTGGGGAACAGGCGCG	0.612000													7	37					0	0	0.000442599	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15880441	15880441	+	RNA	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:15880441C>T	ENST00000595525.1	+	0	529				CYP4F24P_ENST00000587443.2_RNA																							TCTTGCACCTCCTGCCGGCAG	0.592000													6	28					0	0	0.000157383	0	0
MYLK4	340156	broad.mit.edu	37	6	2685801	2685801	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:2685801G>A	ENST00000274643.7	-	5	693	c.351C>T	c.(349-351)ttC>ttT	p.F117F	MYLK4_ENST00000268446.5_Silent_p.F117F	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	117	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				GAACCTGGCCGAAACGCCCTC	0.582000													7	90					0	0	0.000274275	0	0
LOC645752	645752	broad.mit.edu	37	15	78212414	78212414	+	RNA	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:78212414C>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TTAGCATATTCGTCCTGCTCT	0.532000													8	79					0	0	0.000673444	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307795	46307795	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:46307795C>T	ENST00000221538.3	-	3	1510	c.1368G>A	c.(1366-1368)aaG>aaA	p.K456K	RSPH6A_ENST00000600188.1_Silent_p.K192K|RSPH6A_ENST00000597055.1_Silent_p.K456K	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	456						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						TGAAGAACTTCTTGATCTTTC	0.617000													9	59					0	0	0.000673444	0	0
ADAM23	8745	broad.mit.edu	37	2	207426961	207426961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:207426961C>T	ENST00000264377.3	+	13	1617	c.1289C>T	c.(1288-1290)tCg>tTg	p.S430L	ADAM23_ENST00000374416.1_Missense_Mutation_p.S430L|ADAM23_ENST00000374415.3_Missense_Mutation_p.S430L	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	430	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CAAGTATTATCGCAGAGCCTG	0.423000													22	214					0	0	0.00278032	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717196	142717196	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:142717196C>T	ENST00000381779.4	-	2	1954	c.1729G>A	c.(1729-1731)Gaa>Aaa	p.E577K	SLITRK4_ENST00000338017.4_Missense_Mutation_p.E577K|SLITRK4_ENST00000356928.1_Missense_Mutation_p.E577K	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	577	LRRCT 2.					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)					CATAAGATTTCATTTTTGAGG	0.463000													6	39					0	0	0.00198382	0	0
COL17A1	1308	broad.mit.edu	37	10	105815633	105815633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:105815633C>T	ENST00000353479.5	-	18	1884	c.1594G>A	c.(1594-1596)Gga>Aga	p.G532R	COL17A1_ENST00000369733.3_Missense_Mutation_p.G532R|COL17A1_ENST00000480127.1_5'UTR	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	532	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGGTCTGCTCCCGCCGCGGGT	0.552000													10	55					0	0	0.000673444	0	0
C3orf56	285311	broad.mit.edu	37	3	126915912	126915912	+	Silent	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:126915912T>C	ENST00000398112.1	+	2	624	c.384T>C	c.(382-384)ttT>ttC	p.F128F		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		CCAACCTATTTCCTTTCCCCA	0.607000													15	127					0	0	0.000958276	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784346	140784346	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140784346C>T	ENST00000573521.1	+	1	1827	c.1827C>T	c.(1825-1827)ttC>ttT	p.F609F	PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCCTATTCAAGGCCAGTG	0.612000													9	35					0	0	0.000673444	0	0
SRGAP2	23380	broad.mit.edu	37	1	206632142	206632142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:206632142C>T	ENST00000414007.1	+	18	2261	c.2261C>T	c.(2260-2262)tCc>tTc	p.S754F	SRGAP2_ENST00000419187.2_Missense_Mutation_p.212_212insF			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	894	SH3.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GATAAGTGTTCCATCAGTGGG	0.617000													7	18					0	0	0.000442599	0	0
CNTN6	27255	broad.mit.edu	37	3	1262377	1262377	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:1262377G>A	ENST00000446702.2	+	3	689	c.62G>A	c.(61-63)gGt>gAt	p.G21D	CNTN6_ENST00000350110.2_Missense_Mutation_p.G21D|CNTN6_ENST00000539053.1_5'UTR			Q9UQ52	CNTN6_HUMAN	contactin 6	21					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CCAGGTGATGGTCTTTTAAGC	0.328000													8	87					0	0	0.000274275	0	0
IGHV7-81	28378	broad.mit.edu	37	14	107283016	107283016	+	RNA	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:107283016C>T	ENST00000390639.2	-	0	180																											TAACCAGAAGCCTTGCAGGAG	0.572000													5	57					0	0	0.00116845	0	0
ASIC5	51802	broad.mit.edu	37	4	156775387	156775387	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:156775387C>T	ENST00000537611.2	-	3	473	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	143						integral to membrane|plasma membrane											GCAGTAATTTCTTGAAGATGG	0.388000													5	38					0	0	0.00116845	0	0
SENP7	57337	broad.mit.edu	37	3	101044876	101044876	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:101044876G>A	ENST00000394095.2	-	24	3117	c.3064C>T	c.(3064-3066)Cct>Tct	p.P1022S	SENP7_ENST00000394091.1_Missense_Mutation_p.P858S|SENP7_ENST00000314261.7_Missense_Mutation_p.P956S|SENP7_ENST00000394085.3_Missense_Mutation_p.P210S|SENP7_ENST00000358203.3_Missense_Mutation_p.P858S|SENP7_ENST00000394094.2_Missense_Mutation_p.P957S|SENP7_ENST00000348610.3_Missense_Mutation_p.P989S	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	1022	Protease.				proteolysis	nucleus	cysteine-type peptidase activity	p.P956T(1)|p.P1022T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACATGACGAGGAAACCACTTC	0.363000													5	29					0	0	0.000602214	0	0
PSG11	5680	broad.mit.edu	37	19	43519496	43519496	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:43519496G>A	ENST00000401740.1	-	4	839	c.736C>T	c.(736-738)Cct>Tct	p.P246S	PSG11_ENST00000320078.7_Missense_Mutation_p.P246S|PSG11_ENST00000403486.1_Missense_Mutation_p.P124S|PSG11_ENST00000306322.7_Missense_Mutation_p.P124S			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	246	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GTGACTGAAGGGAAAATTCTG	0.468000													19	103					0	0	0.00152264	0	0
CPNE4	131034	broad.mit.edu	37	3	131274340	131274340	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:131274340C>T	ENST00000512055.1	-	16	3243		c.e16+1		CPNE4_ENST00000429747.1_Splice_Site|CPNE4_ENST00000502818.1_Splice_Site|CPNE4_ENST00000512332.1_Splice_Site|CPNE4_ENST00000511604.1_Splice_Site			Q96A23	CPNE4_HUMAN	copine IV											central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CACTCACTCACCGTGTACTCT	0.448000													6	35					0	0	0.00198382	0	0
THBS1	7057	broad.mit.edu	37	15	39882122	39882122	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:39882122C>T	ENST00000260356.5	+	13	2208	c.2043C>T	c.(2041-2043)ggC>ggT	p.G681G		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	681	EGF-like 3.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GCAAGCCTGGCTACGCTGGCA	0.592000													4	9					0	0	0.00024832	0	0
NSUN7	79730	broad.mit.edu	37	4	40778248	40778248	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:40778248G>T	ENST00000381782.2	+	7	1503	c.1008G>T	c.(1006-1008)aaG>aaT	p.K336N	NSUN7_ENST00000316607.5_Missense_Mutation_p.K336N	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CTGACTTGAAGACCCTTTTCA	0.299000													21	132					1.10923e-09	4.86032e-09	0.00278032	1	0
NEUROD6	63974	broad.mit.edu	37	7	31378675	31378675	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:31378675C>T	ENST00000297142.3	-	2	530	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	70					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.E70*(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						AACCCAttttcatcttcctct	0.483000													17	93					0	0	0.000566183	0	0
RIMS1	22999	broad.mit.edu	37	6	72945352	72945352	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:72945352G>A	ENST00000264839.7	+	8	1778	c.1778G>A	c.(1777-1779)gGg>gAg	p.G593E	RIMS1_ENST00000517960.1_Missense_Mutation_p.G593E|RIMS1_ENST00000522291.1_Missense_Mutation_p.G593E|RIMS1_ENST00000401910.3_Missense_Mutation_p.G67E|RIMS1_ENST00000491071.2_Missense_Mutation_p.G593E|RIMS1_ENST00000523963.1_Missense_Mutation_p.G67E|RIMS1_ENST00000348717.5_Missense_Mutation_p.G593E|RIMS1_ENST00000517827.1_Missense_Mutation_p.G52E|RIMS1_ENST00000425662.2_5'UTR|RIMS1_ENST00000521978.1_Missense_Mutation_p.G593E|RIMS1_ENST00000518273.1_Missense_Mutation_p.G593E|RIMS1_ENST00000520567.1_Missense_Mutation_p.G593E			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	593					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TCTAAAGAGGGGGACCGATTA	0.363000													4	12					0	0	0.000602214	0	0
SHANK2	22941	broad.mit.edu	37	11	70319106	70319106	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:70319106G>A	ENST00000338508.4	-	33	5420	c.5421C>T	c.(5419-5421)gcC>gcT	p.A1807A	SHANK2_ENST00000449833.2_Silent_p.A1211A|SHANK2_ENST00000423696.2_Silent_p.A1427A|SHANK2_ENST00000409161.1_Silent_p.A1210A			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1427					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGTCCATGAAGGCCTCTTTAT	0.468000													9	140					0	0	0.000274275	0	0
LCE3B	353143	broad.mit.edu	37	1	152586504	152586504	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:152586504C>T	ENST00000335633.1	+	1	218	c.218C>T	c.(217-219)tCc>tTc	p.S73F		NM_178433.1	NP_848520.1	Q5TA77	LCE3B_HUMAN	late cornified envelope 3B	73	Cys-rich.				keratinization					large_intestine(1)|lung(2)|prostate(1)	4	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		AGCTCCAACTCCTGTGACAGA	0.627000													30	64					0	0	0.00058488	0	0
GALNT18	374378	broad.mit.edu	37	11	11398774	11398774	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:11398774G>A	ENST00000227756.4	-	5	1343	c.932C>T	c.(931-933)cCc>cTc	p.P311L		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		GGCCTTGGGGGGATTTAGGTA	0.537000													5	52					0	0	0.00116845	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129015484	129015484	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:129015484T>A	ENST00000274487.4	+	17	2661	c.2516T>A	c.(2515-2517)aTt>aAt	p.I839N	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	839	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAACAGTCTATTAATAGTGAC	0.388000													25	87					0	0	0.001512	0	0
SAMD4A	23034	broad.mit.edu	37	14	55236879	55236879	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:55236879C>T	ENST00000251091.5	+	7	1695	c.1390C>T	c.(1390-1392)Ctc>Ttc	p.L464F	SAMD4A_ENST00000392067.3_Missense_Mutation_p.L552F|SAMD4A_ENST00000555192.1_Missense_Mutation_p.L143F|SAMD4A_ENST00000357634.3_Missense_Mutation_p.L551F|SAMD4A_ENST00000554335.1_Missense_Mutation_p.L552F	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	552					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						GGTGCAGAAGCTCTTTCGGTC	0.423000													12	93					0	0	0.000978159	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716344	13716344	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:13716344G>A	ENST00000279593.3	-	13	4037	c.3828C>T	c.(3826-3828)gcC>gcT	p.A1276A		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1276					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TAGTGGTGGAGGCGTTTGACG	0.582000													9	63					0	0	0.000274275	0	0
FBXO24	26261	broad.mit.edu	37	7	100198451	100198451	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:100198451G>A	ENST00000241071.6	+	10	1994	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.E596K|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_3'UTR|FBXO24_ENST00000468962.1_Missense_Mutation_p.E546K	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	558						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTTCTTCTGGGAGGCCCTGGA	0.617000													9	39					0	0	0.000673444	0	0
INMT	11185	broad.mit.edu	37	7	30795141	30795141	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:30795141C>T	ENST00000013222.5	+	3	482	c.466C>T	c.(466-468)Ctc>Ttc	p.L156F	INMT_ENST00000484180.1_3'UTR|INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000409539.1_Missense_Mutation_p.L155F	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	156						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						TGTGTTGCCTCTCGCCGACTG	0.652000													5	30					0	0	0.00198382	0	0
CMYA5	202333	broad.mit.edu	37	5	79027333	79027333	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:79027333G>A	ENST00000446378.2	+	2	2776	c.2745G>A	c.(2743-2745)gaG>gaA	p.E915E		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	915						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGGCACAGGAGGAAGAAATTG	0.423000													8	43					0	0	0.000157383	0	0
LCK	3932	broad.mit.edu	37	1	32742265	32742265	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:32742265C>T	ENST00000333070.4	+	9	942	c.842C>T	c.(841-843)tCc>tTc	p.S281F	LCK_ENST00000336890.5_Missense_Mutation_p.S281F|LCK_ENST00000373564.3_Missense_Mutation_p.S288F	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	281	Protein kinase.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	GGCAGCATGTCCCCGGACGCC	0.632000			T	TRB@	T-ALL								13	43					0	0	0.000566183	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480965	140480965	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:140480965G>A	ENST00000231130.2	+	1	732	c.732G>A	c.(730-732)caG>caA	p.Q244Q	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		244					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATTTGCACAGCCGCTCTATG	0.507000													23	102					0	0	0.000586117	0	0
SGSM1	129049	broad.mit.edu	37	22	25294504	25294504	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:25294504C>T	ENST00000400358.4	+	19	2645	c.2588C>T	c.(2587-2589)tCt>tTt	p.S863F	SGSM1_ENST00000400359.4_Missense_Mutation_p.S918F	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	918	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TCCCCTGTGTCTTCCAGCGGC	0.557000													11	88					0	0	0.00185496	0	0
PRDM9	56979	broad.mit.edu	37	5	23526672	23526672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:23526672G>A	ENST00000296682.3	+	11	1657	c.1475G>A	c.(1474-1476)aGa>aAa	p.R492K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	492					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R492K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTGGGAAAAAGAATAATGGAA	0.448000										HNSCC(3;0.000094)			5	30					0	0	0.000602214	0	0
MIER2	54531	broad.mit.edu	37	19	334403	334403	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:334403G>A	ENST00000264819.4	-	3	250	c.240C>T	c.(238-240)tcC>tcT	p.S80S	MIER2_ENST00000592722.1_5'UTR	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		CAAGTACCTGGGAGATGAAGT	0.572000													7	77					0	0	0.000157383	0	0
BTNL8	79908	broad.mit.edu	37	5	180377043	180377043	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:180377043G>A	ENST00000340184.4	+	8	1208	c.1002G>A	c.(1000-1002)caG>caA	p.Q334Q	BTNL8_ENST00000505126.1_Silent_p.Q127Q|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000400707.3_Silent_p.Q209Q|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000511704.1_Silent_p.Q218Q|BTNL8_ENST00000533815.2_Silent_p.Q150Q	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	334	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCTTCTCAGAGTTTCCAAG	0.512000													21	29					0	0	0.00047179	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156910002	156910002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:156910002C>T	ENST00000368194.3	-	36	4769	c.3730G>A	c.(3730-3732)Gat>Aat	p.D1244N	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.D1204N|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.D620N|ARHGEF11_ENST00000487682.1_5'UTR	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1204					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CACTCACCATCTTCCAGAGCG	0.632000													10	26					0	0	0.000978159	0	0
PIK3R5	23533	broad.mit.edu	37	17	8814709	8814709	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:8814709C>T	ENST00000447110.1	-	2	227	c.103_splice	c.e2+1	p.A35_splice	PIK3R5_ENST00000581552.1_Splice_Site_p.A35_splice|PIK3R5_ENST00000584803.1_Splice_Site_p.A35_splice	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	35	Heterodimerization (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TTGGACCGACCTGACCAGGAG	0.652000													14	43					0	0	0.000958276	0	0
EEF1A2	1917	broad.mit.edu	37	20	62127379	62127379	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:62127379C>T	ENST00000217182.3	-	3	319	c.154G>A	c.(154-156)Gga>Aga	p.G52R	EEF1A2_ENST00000298049.7_Missense_Mutation_p.G52R	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	52						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TTGAAGGATCCCTTCCCCATC	0.632000											OREG0026129	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	29					0	0	0.00198382	0	0
SPEG	10290	broad.mit.edu	37	2	220354299	220354299	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:220354299G>A	ENST00000312358.7	+	36	8691	c.8559G>A	c.(8557-8559)caG>caA	p.Q2853Q	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2853	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGGGCCTGCAGGCTGCCCGGC	0.667000													5	52					0	0	0.000602214	0	0
AHCTF1	25909	broad.mit.edu	37	1	247081627	247081627	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:247081627G>A	ENST00000366508.1	-	2	287	c.151C>T	c.(151-153)Cca>Tca	p.P51S	AHCTF1_ENST00000326225.3_Missense_Mutation_p.P25S|AHCTF1_ENST00000391829.2_Missense_Mutation_p.P16S			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	16	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GTCACTTCTGGAAATGGCAGG	0.373000													8	64					0	0	0.000442599	0	0
MUC16	94025	broad.mit.edu	37	19	8999484	8999484	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:8999484C>T	ENST00000397910.4	-	56	40894	c.40691G>A	c.(40690-40692)aGa>aAa	p.R13564K	MUC16_ENST00000380951.5_Missense_Mutation_p.R205K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13566	SEA 10.			Missing (in Ref. 3; AAK74120).	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						TAGCTGCTCTCTGTCCAGTCC	0.592000													10	60					0	0	0.000442599	0	0
ABCA13	154664	broad.mit.edu	37	7	48308594	48308594	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:48308594C>T	ENST00000435803.1	+	16	2047	c.2023C>T	c.(2023-2025)Cct>Tct	p.P675S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	675					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGAGGAATCTCCTTGTTTTGA	0.289000													7	44					0	0	0.000157383	0	0
FREM1	158326	broad.mit.edu	37	9	14851493	14851493	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:14851493G>A	ENST00000380881.4	-	7	1759	c.944C>T	c.(943-945)tCc>tTc	p.S315F	FREM1_ENST00000380880.3_Missense_Mutation_p.S314F|FREM1_ENST00000422223.2_Missense_Mutation_p.S314F			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	314					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGTAGTCAAGGAGGTCAGGAT	0.483000													16	74					0	0	0.00074312	0	0
MYH3	4621	broad.mit.edu	37	17	10536920	10536920	+	Silent	SNP	G	G	A	rs74406856	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:10536920G>A	ENST00000583535.1	-	33	4722	c.4635C>T	c.(4633-4635)ctC>ctT	p.L1545L	MYH3_ENST00000226209.7_Silent_p.L1545L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1545					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTGCTTCCTCGAGAGCCAGCT	0.532000													5	56					0	0	0.00116845	0	0
TENM3	55714	broad.mit.edu	37	4	183713818	183713818	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:183713818C>G	ENST00000511685.1	+	26	6116	c.5993C>G	c.(5992-5994)cCc>cGc	p.P1998R	TENM3_ENST00000406950.2_Missense_Mutation_p.P1998R					teneurin transmembrane protein 3																		CAAATTGGTCCCCTGATTGAC	0.423000													55	288					0	0	0.000781405	0	0
ZNF429	353088	broad.mit.edu	37	19	21719397	21719397	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:21719397C>T	ENST00000358491.4	+	4	750	c.542C>T	c.(541-543)tCa>tTa	p.S181L	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TGTGGCAAATCATTTTGCATG	0.313000													8	53					0	0	0.000442599	0	0
KRTAP5-AS1	338651	broad.mit.edu	37	11	1619548	1619548	+	RNA	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:1619548C>T	ENST00000424148.1	+	0	1399					NR_021489.1																						TGTGGAGCTCCCTGAGCCTGG	0.532000													12	76					0	0	0.000308642	0	0
COL9A1	1297	broad.mit.edu	37	6	71011744	71011744	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:71011744G>A	ENST00000357250.6	-	2	206	c.48C>T	c.(46-48)ttC>ttT	p.F16F	COL9A1_ENST00000370496.3_Silent_p.F16F	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	16					axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AGGGTTCCAGGAAACTGCACA	0.448000													6	24					0	0	0.00198382	0	0
SCN9A	6335	broad.mit.edu	37	2	167141201	167141201	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:167141201C>T	ENST00000375387.4	-	12	2079	c.1739G>A	c.(1738-1740)gGa>gAa	p.G580E	SCN9A_ENST00000409672.1_Missense_Mutation_p.G579E|SCN9A_ENST00000409435.1_Missense_Mutation_p.G579E|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.G580E			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	579						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G579V(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CTCATTGTCTCCAAAAATGCT	0.507000													6	35					0	0	0.00116845	0	0
NCOA6	23054	broad.mit.edu	37	20	33364185	33364185	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:33364185G>A	ENST00000374796.2	-	5	2872	c.302C>T	c.(301-303)cCc>cTc	p.P101L	NCOA6_ENST00000359003.2_Missense_Mutation_p.P101L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	101	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGCTTCCCGGGGGATGTTGAA	0.468000													7	54					0	0	0.000157383	0	0
GAREM	64762	broad.mit.edu	37	18	29847906	29847906	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:29847906C>T	ENST00000399218.4	-	6	2611	c.2556G>A	c.(2554-2556)gaG>gaA	p.E852E	GAREM_ENST00000269209.6_Silent_p.E853E	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1									p.E852D(1)									ATTTGAAATCCTCTGAGAGGA	0.413000													4	45					0	0	0.00024832	0	0
OR6Y1	391112	broad.mit.edu	37	1	158516941	158516941	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:158516941C>T	ENST00000302617.3	-	1	954	c.955G>A	c.(955-957)Gga>Aga	p.G319R		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GCCCCATTTCCCTGGGGCCCA	0.453000													8	30					0	0	0.000274275	0	0
FAM83A	84985	broad.mit.edu	37	8	124206335	124206335	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:124206335C>T	ENST00000518448.1	+	4	2734	c.720C>T	c.(718-720)atC>atT	p.I240I	FAM83A_ENST00000536633.1_Silent_p.I240I|FAM83A_ENST00000318462.6_Silent_p.I240I|FAM83A_ENST00000276699.6_Silent_p.I240I|FAM83A_ENST00000522648.1_Silent_p.I184I|FAM83A_ENST00000546351.1_Silent_p.I184I			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	240										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CTGGCCAAATCCGGGAGAAGT	0.488000													7	52					0	0	0.000274275	0	0
SLC6A12	6539	broad.mit.edu	37	12	310982	310982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:310982G>A	ENST00000428720.1	-	6	1267	c.524C>T	c.(523-525)gCc>gTc	p.A175V	SLC6A12_ENST00000424061.2_Missense_Mutation_p.A175V|SLC6A12_ENST00000397296.2_Missense_Mutation_p.A175V|SLC6A12_ENST00000359674.4_Missense_Mutation_p.A175V|SLC6A12_ENST00000538272.1_Intron|SLC6A12_ENST00000536824.1_Missense_Mutation_p.A175V	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	175					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			CACTGTGCCGGCTCCTGAGTG	0.512000													8	99					0	0	0.000978159	0	0
VAV1	7409	broad.mit.edu	37	19	6821681	6821681	+	Silent	SNP	A	A	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:6821681A>C	ENST00000304076.2	+	3	464	c.370A>C	c.(370-372)Agg>Cgg	p.R124R	VAV1_ENST00000602142.1_Silent_p.R124R|VAV1_ENST00000539284.1_Silent_p.R59R|VAV1_ENST00000599806.1_Silent_p.R69R|VAV1_ENST00000596764.1_Silent_p.R124R	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	124					apoptosis|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|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CGCCCAGAACAGGGGGATCAT	0.647000													4	21					0	0	0.00116845	0	0
BMP7	655	broad.mit.edu	37	20	55758884	55758884	+	Silent	SNP	C	C	T	rs147083949		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:55758884C>T	ENST00000395863.3	-	4	1357	c.852G>A	c.(850-852)acG>acA	p.T284T	BMP7_ENST00000450594.2_Silent_p.T284T|BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Intron	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	284					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			AGTGGACCTCCGTGGCCTTGA	0.642000													6	32					0	0	0.00198382	0	0
DMBX1	127343	broad.mit.edu	37	1	46978144	46978144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:46978144G>A	ENST00000371956.4	+	4	1142	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E	DMBX1_ENST00000360032.3_Missense_Mutation_p.G371E	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	376					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GCCTCCCTGGGACTCGATACG	0.627000													6	47					0	0	0.00198382	0	0
OR8D4	338662	broad.mit.edu	37	11	123777424	123777424	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:123777424G>A	ENST00000321355.2	+	1	316	c.286G>A	c.(286-288)Gga>Aga	p.G96R		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		CTCCTATTCTGGATGCATGAT	0.428000													28	165					0	0	0.000953801	0	0
DCT	1638	broad.mit.edu	37	13	95131435	95131435	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:95131435G>A	ENST00000377028.5	-	1	488	c.75C>T	c.(73-75)ttC>ttT	p.F25F	DCT_ENST00000446125.1_Silent_p.F25F	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	25					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AGACTCGGGGGAACTGACCCT	0.597000													6	20					0	0	0.000157383	0	0
NEB	4703	broad.mit.edu	37	2	152507377	152507377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:152507377C>T	ENST00000397345.3	-	53	7140	c.6938G>A	c.(6937-6939)cGa>cAa	p.R2313Q	NEB_ENST00000172853.10_Missense_Mutation_p.R2313Q|NEB_ENST00000604864.1_Missense_Mutation_p.R2313Q|NEB_ENST00000409198.1_Missense_Mutation_p.R2313Q|NEB_ENST00000603639.1_Missense_Mutation_p.R2313Q|NEB_ENST00000427231.2_Missense_Mutation_p.R2313Q	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2313					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAGTTGCTTTCGGTAGCCTTG	0.393000													26	143					0	0	0.001512	0	0
VAPB	9217	broad.mit.edu	37	20	57009663	57009663	+	Silent	SNP	T	T	C			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:57009663T>C	ENST00000475243.1	+	3	555	c.217T>C	c.(217-219)Tta>Cta	p.L73L	VAPB_ENST00000265619.2_Intron|VAPB_ENST00000395802.3_Intron	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	73	MSP.				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)			CTCAGTGATGTTACAGCCTTT	0.363000													11	57					0	0	0.000673444	0	0
SLC7A2	6542	broad.mit.edu	37	8	17406292	17406292	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:17406292G>A	ENST00000470360.1	+	6	875	c.758G>A	c.(757-759)gGa>gAa	p.G253E	SLC7A2_ENST00000522656.1_Missense_Mutation_p.G213E|SLC7A2_ENST00000004531.10_Missense_Mutation_p.G253E|SLC7A2_ENST00000494857.1_Missense_Mutation_p.G213E|SLC7A2_ENST00000398090.3_Missense_Mutation_p.G253E			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	213					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TTTGTGAAAGGAAATGTGGCA	0.358000													15	128					0	0	0.000308642	0	0
FAM160A2	84067	broad.mit.edu	37	11	6245696	6245696	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:6245696G>A	ENST00000265978.4	-	2	409	c.51C>T	c.(49-51)caC>caT	p.H17H	FAM160A2_ENST00000449352.2_Silent_p.H17H|FAM160A2_ENST00000524416.1_Silent_p.H17H	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	17					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAGGTATACGGTGCCCAGGGC	0.587000													7	51					0	0	0.000442599	0	0
KIF27	55582	broad.mit.edu	37	9	86518863	86518863	+	Silent	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:86518863A>G	ENST00000297814.2	-	4	713	c.570T>C	c.(568-570)aaT>aaC	p.N190N	KIF27_ENST00000334204.2_Silent_p.N190N|KIF27_ENST00000413982.1_Silent_p.N190N	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	190	Kinesin-motor.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GTCTGGCTGCATTCCCCATCT	0.408000													24	117					0	0	0.000720815	0	0
TRIM6	117854	broad.mit.edu	37	11	5632314	5632314	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:5632314G>A	ENST00000380097.3	+	8	1535	c.1293G>A	c.(1291-1293)gtG>gtA	p.V431V	TRIM6_ENST00000506134.1_Silent_p.V228V|TRIM6_ENST00000278302.5_Silent_p.V403V|TRIM6_ENST00000481603.1_3'UTR|TRIM6_ENST00000380107.1_Silent_p.V377V|TRIM6_ENST00000445329.1_Silent_p.V228V|TRIM6_ENST00000515022.1_Silent_p.V228V|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Intron|TRIM6_ENST00000507320.1_Silent_p.V228V|AC015691.13_ENST00000394793.2_RNA	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1			tripartite motif containing 6											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		GATACTGGGTGATTGGGTTAC	0.488000													7	61					0	0	0.000157383	0	0
MCOLN3	55283	broad.mit.edu	37	1	85499870	85499870	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:85499870G>A	ENST00000370587.1	-	5	837	c.461C>T	c.(460-462)tCt>tTt	p.S154F	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Missense_Mutation_p.S98F|MCOLN3_ENST00000370589.2_Missense_Mutation_p.S154F			Q8TDD5	MCLN3_HUMAN	mucolipin 3	154						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TGCCATAGCAGATTGCTTGGT	0.413000													9	71					0	0	0.000274275	0	0
CARS	833	broad.mit.edu	37	11	3028116	3028116	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:3028116G>A	ENST00000397114.3	-	19	2239	c.1863C>T	c.(1861-1863)gaC>gaT	p.D621D	CARS_ENST00000397111.5_Silent_p.D631D|CARS_ENST00000278224.9_Silent_p.D631D|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000380525.4_Silent_p.D714D|CARS_ENST00000401769.3_Silent_p.D644D			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	631					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CACCTTCGTGGTCTTCAAACC	0.587000			T	ALK	ALCL								19	110					0	0	0.00127121	0	0
DES	1674	broad.mit.edu	37	2	220286089	220286089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:220286089G>A	ENST00000373960.3	+	6	1137	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	351	Coil 2B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCAGATGCGGGAATTGGAGGA	0.587000													6	31					0	0	0.000157383	0	0
LDOC1L	84247	broad.mit.edu	37	22	44893125	44893125	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:44893125G>A	ENST00000341255.3	-	2	821	c.312C>T	c.(310-312)ccC>ccT	p.P104P		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	104										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		CCCCGGAAAAGGGCTCGGGCA	0.637000													12	20					0	0	0.00244969	0	0
ZNF852	285346	broad.mit.edu	37	3	44541239	44541239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:44541239G>A	ENST00000436261.1	-	4	1190	c.1030C>T	c.(1030-1032)Cga>Tga	p.R344*	ZNF852_ENST00000489411.1_5'UTR			B6EU87	B6EU87_HUMAN	zinc finger protein 852	344					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						CTCTGATGTCGAATAAGACAT	0.423000													5	37					0	0	0.00116845	0	0
MYO5B	4645	broad.mit.edu	37	18	47376027	47376027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:47376027G>A	ENST00000285039.7	-	32	4524	c.4225C>T	c.(4225-4227)Ctt>Ttt	p.L1409F	MYO5B_ENST00000324581.6_Missense_Mutation_p.L524F|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_5'UTR	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1409					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGTTCTTTAAGGTCCTGGAAG	0.512000													7	79					0	0	0.000157383	0	0
HNF4G	3174	broad.mit.edu	37	8	76459898	76459898	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:76459898G>A	ENST00000396423.2	+	3	458	c.334G>A	c.(334-336)Gcg>Acg	p.A112T	HNF4G_ENST00000354370.1_Missense_Mutation_p.A75T	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	75					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GTGTTTTAGAGCGGGAATGAA	0.294000													23	117					0	0	0.00229938	0	0
PRMT8	56341	broad.mit.edu	37	12	3677890	3677890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:3677890G>A	ENST00000382622.3	+	5	890	c.500G>A	c.(499-501)gGt>gAt	p.G167D	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.G158D	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	167					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			ATATTTAAGGGTAAAGTGGAA	0.522000													10	30					0	0	0.000442599	0	0
LIMK2	3985	broad.mit.edu	37	22	31669481	31669481	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:31669481C>T	ENST00000331728.4	+	14	1716	c.1602C>T	c.(1600-1602)atC>atT	p.I534I	LIMK2_ENST00000406516.1_Silent_p.I456I|LIMK2_ENST00000444929.2_Silent_p.I288I|LIMK2_ENST00000467301.1_3'UTR|LIMK2_ENST00000340552.4_Silent_p.I513I|LIMK2_ENST00000333611.4_Silent_p.I513I	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	534	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CCTTTGGGATCGTTCTCTGTG	0.552000											OREG0026477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	50					0	0	0.000157383	0	0
ANO2	57101	broad.mit.edu	37	12	5963215	5963215	+	Silent	SNP	G	G	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:5963215G>T	ENST00000327087.8	-	4	686	c.615C>A	c.(613-615)acC>acA	p.T205T	ANO2_ENST00000356134.5_Silent_p.T205T|ANO2_ENST00000546188.1_Silent_p.T205T			Q9NQ90	ANO2_HUMAN	anoctamin 2	209						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ATACTTTCTTGGTAGGAACTT	0.512000													9	173					0.000442599	0.00192269	0.000442599	1	0
LILRP2	79166	broad.mit.edu	37	19	55222142	55222142	+	RNA	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:55222142C>T	ENST00000413439.1	+	0	1669																											GCAGATTCTTCCCCTACCTGC	0.617000													8	41					0	0	0.000442599	0	0
HCN1	348980	broad.mit.edu	37	5	45262407	45262407	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:45262407C>T	ENST00000303230.4	-	8	2346	c.2289G>A	c.(2287-2289)ccG>ccA	p.P763P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	763						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTTCATTTTTCGGCGTGGAGC	0.652000													7	37					0	0	0.000157383	0	0
UNC5CL	222643	broad.mit.edu	37	6	41002486	41002486	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:41002486G>A	ENST00000244565.3	-	2	416	c.328C>T	c.(328-330)Cac>Tac	p.H110Y	UNC5CL_ENST00000373164.1_Missense_Mutation_p.H110Y	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	110	ZU5.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCGCCGCGGTGATCCACCTCT	0.567000													10	62					0	0	0.000978159	0	0
ZNF536	9745	broad.mit.edu	37	19	31039827	31039827	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:31039827G>A	ENST00000355537.3	+	4	3448	c.3301G>A	c.(3301-3303)Gac>Aac	p.D1101N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGGCCACGTGGACCCTGCATT	0.542000													6	61					0	0	0.00116845	0	0
MYO15A	51168	broad.mit.edu	37	17	18030452	18030452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:18030452G>A	ENST00000205890.5	+	7	4343	c.4005G>A	c.(4003-4005)atG>atA	p.M1335I		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1335	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGGCCGCCATGAACCAGAAAC	0.567000													5	26					0	0	0.00116845	0	0
BAI3	577	broad.mit.edu	37	6	70064192	70064192	+	Missense_Mutation	SNP	C	C	T	rs142863825		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:70064192C>T	ENST00000370598.1	+	27	4348	c.3527C>T	c.(3526-3528)tCg>tTg	p.S1176L	BAI3_ENST00000546190.1_Missense_Mutation_p.S140L|BAI3_ENST00000238918.8_Missense_Mutation_p.S382L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1176	Poly-Ser.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCTTCGAGTTCGTTTCCTAAT	0.393000													6	82					0	0	0.000157383	0	0
SH2D3C	10044	broad.mit.edu	37	9	130536637	130536637	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:130536637G>A	ENST00000314830.8	-	2	260	c.147C>T	c.(145-147)acC>acT	p.T49T		NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	49					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGCTTCAAAGGTGTCAGGCT	0.582000													9	32					0	0	0.000274275	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518090	113518090	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:113518090C>T	ENST00000284601.3	-	4	3125	c.3057G>A	c.(3055-3057)gaG>gaA	p.E1019E		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1019					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTCCATATTCTCAAGAGGTT	0.383000													7	43					0	0	0.00198382	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421503	62421503	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:62421503G>A	ENST00000245663.4	-	2	758	c.608C>T	c.(607-609)cCc>cTc	p.P203L	ZBTB46_ENST00000302995.2_Missense_Mutation_p.P203L|ZBTB46_ENST00000395104.1_Missense_Mutation_p.P203L	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					ATCGGCCTTGGGCTCCTGATC	0.607000													7	25					0	0	0.00198382	0	0
MTPAP	55149	broad.mit.edu	37	10	30629251	30629251	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:30629251C>T	ENST00000358107.4	-	4	848	c.849G>A	c.(847-849)ttG>ttA	p.L283L	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000263063.3_Silent_p.L153L			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	153					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TCTGGTTTTTCAACTTCAGAT	0.423000													9	101					0	0	0.000673444	0	0
HTR2A	3356	broad.mit.edu	37	13	47466530	47466530	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:47466530G>A	ENST00000378688.4	-	2	739	c.608C>T	c.(607-609)tCa>tTa	p.S203L	HTR2A_ENST00000543956.1_Missense_Mutation_p.S119L|HTR2A_ENST00000542664.1_Missense_Mutation_p.S203L			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	203					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CTTACCTACTGATATGGTCCA	0.443000													32	411					0	0	0.00283554	0	0
ALAS2	212	broad.mit.edu	37	X	55054205	55054205	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:55054205C>T	ENST00000396198.3	-	2	121	c.36G>A	c.(34-36)aaG>aaA	p.K12K	ALAS2_ENST00000335854.4_Intron|ALAS2_ENST00000330807.5_Intron	NM_001037968.3	NP_001033057.1	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	0					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	ACCTCTTTTTCTTGTTCCATC	0.542000													5	20					0	0	0.000157383	0	0
SMCO4	56935	broad.mit.edu	37	11	93212333	93212333	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:93212333G>A	ENST00000298966.2	-	3	408	c.23C>T	c.(22-24)cCc>cTc	p.P8L	SMCO4_ENST00000525141.1_Missense_Mutation_p.P8L|SMCO4_ENST00000527149.1_Missense_Mutation_p.P8L	NM_020179.2	NP_064564.1			single-pass membrane protein with coiled-coil domains 4																		CTCCTTCTTGGGCTTCCCTTT	0.602000													12	53					0	0	0.000308642	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790076	133790076	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:133790076G>A	ENST00000321016.8	-	18	3774	c.3544C>T	c.(3544-3546)Cgg>Tgg	p.R1182W	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R1182W			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1182	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTGGCCTGCCGAGGGCTAGGC	0.716000													13	52					0	0	0.00185496	0	0
TANC1	85461	broad.mit.edu	37	2	160035431	160035431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:160035431C>T	ENST00000263635.6	+	14	2504	c.2267C>T	c.(2266-2268)cCg>cTg	p.P756L	TANC1_ENST00000454300.1_Missense_Mutation_p.P650L	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	756						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AGGGCACTTCCGATTCTCAAC	0.552000													14	144					0	0	0.000958276	0	0
USP54	159195	broad.mit.edu	37	10	75276290	75276290	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:75276290C>T	ENST00000339859.4	-	19	3994	c.3894G>A	c.(3892-3894)gaG>gaA	p.E1298E	USP54_ENST00000497106.1_5'UTR|USP54_ENST00000422491.2_Silent_p.E480E|USP54_ENST00000408019.1_Silent_p.E1298E|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000428547.1_Silent_p.E1148E|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000394811.2_Silent_p.E386E|RP11-137L10.6_ENST00000593790.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1298					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TGTGATTTCTCTCTGGATAGG	0.478000													8	80					0	0	0.000442599	0	0
SYNJ2	8871	broad.mit.edu	37	6	158449911	158449911	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:158449911A>G	ENST00000355585.4	+	3	413	c.338A>G	c.(337-339)gAg>gGg	p.E113G	SYNJ2_ENST00000367122.2_Missense_Mutation_p.E113G|SYNJ2_ENST00000449859.2_Missense_Mutation_p.E62G|SYNJ2_ENST00000367121.3_Missense_Mutation_p.E113G	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	113							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GAGGCCAAGGAGGAGGAACGC	0.507000													5	59					0	0	0.00198382	0	0
SLC26A9	115019	broad.mit.edu	37	1	205896728	205896728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:205896728C>T	ENST00000367135.3	-	10	1220	c.1107G>A	c.(1105-1107)atG>atA	p.M369I	SLC26A9_ENST00000340781.4_Missense_Mutation_p.M369I|SLC26A9_ENST00000367134.2_Missense_Mutation_p.M369I	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	369						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CGAGAGCGATCATCTCCTGCA	0.557000													7	28					0	0	0.00198382	0	0
DNAH9	1770	broad.mit.edu	37	17	11787003	11787003	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:11787003G>A	ENST00000262442.3	+	56	10975	c.10907G>A	c.(10906-10908)gGa>gAa	p.G3636E	DNAH9_ENST00000396001.2_5'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.G3636E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3636	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AACTTCCTGGGAGAAACAGTG	0.498000													8	56					0	0	0.000157383	0	0
CRB1	23418	broad.mit.edu	37	1	197390708	197390708	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:197390708G>A	ENST00000367400.3	+	6	1885	c.1750G>A	c.(1750-1752)Gac>Aac	p.D584N	CRB1_ENST00000538660.1_Missense_Mutation_p.D584N|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.D472N|CRB1_ENST00000544212.1_Missense_Mutation_p.D65N|CRB1_ENST00000535699.1_Missense_Mutation_p.D515N	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	584	Laminin G-like 1.		D -> Y (in LCA8).		cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TACCTTAATCGACGACTCCTG	0.453000													11	43					0	0	0.000978159	0	0
SERPINA9	327657	broad.mit.edu	37	14	94929461	94929461	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:94929461A>T	ENST00000337425.5	-	5	1351	c.1277T>A	c.(1276-1278)cTa>cAa	p.L426Q	SERPINA9_ENST00000448305.2_Missense_Mutation_p.L328Q|SERPINA9_ENST00000298845.7_Missense_Mutation_p.L326Q|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000380365.3_Missense_Mutation_p.L408Q|SERPINA9_ENST00000424550.2_Missense_Mutation_p.L277Q	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	408					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CACTTTCCCTAGAAAGAGAAT	0.428000													7	67					0	0	0.000442599	0	0
PKP2	5318	broad.mit.edu	37	12	33031376	33031376	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:33031376C>T	ENST00000340811.4	-	3	546	c.438G>A	c.(436-438)agG>agA	p.R146R	PKP2_ENST00000070846.6_Silent_p.R146R	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	146					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCTCCAGTCTCCTCAGAGGAT	0.577000													35	159					0	0	0.000953801	0	0
OLFM3	118427	broad.mit.edu	37	1	102302440	102302440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:102302440C>T	ENST00000370103.4	-	2	424	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.E91K|OLFM3_ENST00000359814.3_Missense_Mutation_p.E91K|OLFM3_ENST00000536598.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	91						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CCTACCTTTTCCAGTAGTTGG	0.448000													12	101					0	0	0.00244969	0	0
DNAH5	1767	broad.mit.edu	37	5	13753442	13753442	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:13753442C>T	ENST00000265104.4	-	63	10876	c.10772G>A	c.(10771-10773)gGa>gAa	p.G3591E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3591	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G3591E(1)		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)					GACAATAATTCCATTTTGAAT	0.393000									Kartagener syndrome				11	79					0	0	0.000673444	0	0
LPA	4018	broad.mit.edu	37	6	161010726	161010726	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:161010726G>A	ENST00000447678.1	-	25	3926	c.3806C>T	c.(3805-3807)cCc>cTc	p.P1269L	LPA_ENST00000316300.5_Missense_Mutation_p.P1269L	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3777	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTGGACTGTGGGGCTTTGCTC	0.448000													8	33					0	0	0.000673444	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64629908	64629908	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr5:64629908C>T	ENST00000536360.1	-	8	1891	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	360	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GTGCAGATATCATATCTATGG	0.279000													6	63					0	0	0.00198382	0	0
APOB	338	broad.mit.edu	37	2	21232762	21232762	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:21232762C>T	ENST00000233242.1	-	26	7105	c.6978G>A	c.(6976-6978)ggG>ggA	p.G2326G		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2326				LIG -> PYW (in Ref. 16; AAA51741).	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTTCAAAATCCCCAATAAGAT	0.338000													29	390					0	0	0.00178596	0	0
OIT3	170392	broad.mit.edu	37	10	74684190	74684190	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:74684190G>A	ENST00000334011.5	+	7	1373	c.1155G>A	c.(1153-1155)ggG>ggA	p.G385G		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	385	ZP.					nuclear envelope	calcium ion binding	p.G385G(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GAAATCATGGGATCTTCCCAT	0.512000													6	72					0	0	0.00116845	0	0
KALRN	8997	broad.mit.edu	37	3	123987691	123987691	+	Silent	SNP	C	C	T	rs140029739	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:123987691C>T	ENST00000360013.3	+	5	679	c.552C>T	c.(550-552)atC>atT	p.I184I	KALRN_ENST00000460856.1_Silent_p.I184I|KALRN_ENST00000240874.3_Silent_p.I184I	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	184					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGGAGTGGATCGAACTGCGGC	0.607000													8	29					0	0	0.000157383	0	0
LILRB5	10990	broad.mit.edu	37	19	54760074	54760074	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:54760074G>A	ENST00000450632.1	-	4	537	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S	LILRB5_ENST00000449561.2_Missense_Mutation_p.P163S|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Missense_Mutation_p.P163S			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	163	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGGGTCCTGGGGAGCTTCTGT	0.582000													7	42					0	0	0.00198382	0	0
NAA35	60560	broad.mit.edu	37	9	88593212	88593212	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:88593212A>T	ENST00000361671.5	+	11	926	c.793A>T	c.(793-795)Atg>Ttg	p.M265L	NAA35_ENST00000376040.1_Missense_Mutation_p.M265L	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	265					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						TCAAAAATTGATGGTTCAAGC	0.348000													12	78					0	0	0.00244969	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368537	86368537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:86368537C>T	ENST00000400286.2	-	2	2705	c.2107G>A	c.(2107-2109)Gaa>Aaa	p.E703K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	703						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTCTCTTCTTCCTCTTCCAGA	0.433000													5	45					0	0	0.00116845	0	0
SNHG14	104472715	broad.mit.edu	37	15	25485051	25485051	+	RNA	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:25485051G>A	ENST00000453082.2	+	0	1979				SNORD115-38_ENST00000365037.1_RNA	NR_003343.1																						TGCTCAATAGGATTACGCTGA	0.507000													20	210					0	0	0.000586117	0	0
GTF3C1	2975	broad.mit.edu	37	16	27549503	27549503	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr16:27549503G>A	ENST00000356183.4	-	3	621	c.606C>T	c.(604-606)ttC>ttT	p.F202F	GTF3C1_ENST00000561623.1_Silent_p.F202F	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	202						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCACTTACTTGAAAGCAGTGG	0.552000													16	53					0	0	0.000958276	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55107565	55107565	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:55107565G>A	ENST00000474759.1	+	36	3129	c.3081G>A	c.(3079-3081)atG>atA	p.M1027I	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.M933I|CACNA2D3_ENST00000478261.1_Intron|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.M1027I|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.M1027I	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	1027						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CCATCACCATGGCACCCATTG	0.517000													4	33					0	0	0.000602214	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175678	207175678	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:207175678G>A	ENST00000374423.3	+	5	6812	c.6426G>A	c.(6424-6426)aaG>aaA	p.K2142K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2142							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGCTTCCAAAGAAAAGAAATT	0.358000													12	70					0	0	0.00136819	0	0
RNF133	168433	broad.mit.edu	37	7	122338165	122338165	+	Missense_Mutation	SNP	G	G	A	rs113296018	byFrequency	TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:122338165G>A	ENST00000340112.2	-	1	1045	c.808C>T	c.(808-810)Cgt>Tgt	p.R270C	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	270						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GTCAGAATACGAACTATGTCA	0.388000													9	51					0	0	0.000978159	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361279	70361279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:70361279G>A	ENST00000305107.6	-	1	347	c.301C>T	c.(301-303)Cca>Tca	p.P101S	UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.P101S|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	101					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						GTGTCTTTTGGAAGTTCTGCC	0.323000													4	22					0	0	0.00024832	0	0
KIAA1524	57650	broad.mit.edu	37	3	108301837	108301837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:108301837G>A	ENST00000295746.8	-	3	420	c.344C>T	c.(343-345)tCg>tTg	p.S115L	KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_5'UTR	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	115						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAAAAACACCGAATCAGTGTG	0.418000													7	30					0	0	0.000157383	0	0
PADI4	23569	broad.mit.edu	37	1	17668439	17668439	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:17668439G>A	ENST00000375448.4	+	7	680	c.652_splice	c.e7-1	p.R218_splice	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	218					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CTCTCCTAGGGGGCAAACTGT	0.577000													3	9					0	0	6.4e-05	0	0
CASS4	57091	broad.mit.edu	37	20	55027342	55027342	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:55027342G>A	ENST00000371336.3	+	5	1311	c.1110G>A	c.(1108-1110)aaG>aaA	p.K370K	CASS4_ENST00000360314.3_Silent_p.K370K|CASS4_ENST00000434344.1_Intron	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	370					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AGAAAGCCAAGGAGGTGTCAG	0.512000													6	46					0	0	0.00116845	0	0
TNFRSF4	7293	broad.mit.edu	37	1	1149457	1149457	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:1149457G>A	ENST00000379236.3	-	1	55	c.51C>T	c.(49-51)ctC>ctT	p.L17L		NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	17					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGCCCAGGAGGAGCAGAGCCG	0.701000													4	14					0	0	0.00024832	0	0
HEMGN	55363	broad.mit.edu	37	9	100692587	100692587	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr9:100692587C>T	ENST00000259456.3	-	4	1233	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	364					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GAATATTTTTCAGACCCAGGA	0.368000													19	158					0	0	0.000958276	0	0
C4orf21	55345	broad.mit.edu	37	4	113505138	113505138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:113505138C>T	ENST00000505019.1	-	15	4419	c.4294G>A	c.(4294-4296)Gtg>Atg	p.V1432M		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ACATACCTCACCAAAAGCTGG	0.348000													11	81					0	0	0.00244969	0	0
XIRP1	165904	broad.mit.edu	37	3	39228494	39228494	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr3:39228494G>A	ENST00000340369.3	-	2	2671	c.2443C>T	c.(2443-2445)Cct>Tct	p.P815S	XIRP1_ENST00000396251.1_Missense_Mutation_p.P815S|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	815							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CGTATATAAGGGTGCCCCTGC	0.617000													5	55					0	0	0.00116845	0	0
ARMC4	55130	broad.mit.edu	37	10	28284008	28284008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr10:28284008C>T	ENST00000305242.5	-	2	156	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K		NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	22							binding	p.E22K(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GGGGTGATTTCGAGGATTCCA	0.453000													7	39					0	0	0.000442599	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813820	106813820	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr8:106813820C>T	ENST00000407775.2	+	8	1760	c.1510C>T	c.(1510-1512)Ccc>Tcc	p.P504S	ZFPM2_ENST00000520492.1_Missense_Mutation_p.P372S|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P372S|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P235S|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	504					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GTTTTCTTTCCCCCAAGATAT	0.507000													6	93					0	0	0.00198382	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43796671	43796671	+	Silent	SNP	C	C	T	rs140620963		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr21:43796671C>T	ENST00000291532.3	-	11	2128	c.1173G>A	c.(1171-1173)acG>acA	p.T391T	TMPRSS3_ENST00000380399.1_Silent_p.T475T|TMPRSS3_ENST00000398405.1_Silent_p.T388T|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Silent_p.T390T	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	391	Peptidase S1.			ICNHRDVYGGIISPSMLCAGYLTGGVD -> DLQPQGRVRW HHLPLHALRGLPDGWRWN (in Ref. 1; AAG37012).	cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CCACGCCACCCGTCAGGTAGC	0.657000											OREG0031642	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	7	46					0	0	0.00198382	0	0
CCDC33	80125	broad.mit.edu	37	15	74588161	74588161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:74588161G>A	ENST00000321288.5	+	13	1771	c.1771G>A	c.(1771-1773)Gat>Aat	p.D591N	CCDC33_ENST00000563951.1_3'UTR|CCDC33_ENST00000398814.3_Missense_Mutation_p.D388N			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	591							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CAAGATCCTGGATAAGAAGCT	0.507000													6	62					0	0	0.000274275	0	0
WFS1	7466	broad.mit.edu	37	4	6304104	6304104	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:6304104T>G	ENST00000226760.1	+	8	2752	c.2582T>G	c.(2581-2583)gTg>gGg	p.V861G	WFS1_ENST00000503569.1_Missense_Mutation_p.V861G	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	861					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AGGCGGCACGTGAAGATCGAG	0.627000													18	163					0	0	0.00121646	0	0
FATE1	89885	broad.mit.edu	37	X	150885784	150885784	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chrX:150885784G>A	ENST00000370350.3	+	2	232	c.147G>A	c.(145-147)caG>caA	p.Q49Q		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	49						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GTGCCTCCCAGAAGAAGCAGA	0.517000													24	54					0	0	0.00278032	0	0
PCSK2	5126	broad.mit.edu	37	20	17410135	17410135	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:17410135G>A	ENST00000262545.2	+	7	991	c.676G>A	c.(676-678)Gga>Aga	p.G226R	PCSK2_ENST00000377899.1_Missense_Mutation_p.G207R|PCSK2_ENST00000536609.1_Missense_Mutation_p.G191R	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	226	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAATATCTGTGGAGTTGGAGT	0.488000													17	67					0	0	0.00121646	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390641	61390641	+	RNA	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr18:61390641G>A	ENST00000544088.1	+	0	1249				SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TAATCAGATGGGGTTGAGCAA	0.507000													11	62					0	0	0.00185496	0	0
GPX5	2880	broad.mit.edu	37	6	28493824	28493824	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:28493824C>T	ENST00000412168.2	+	1	123	c.34C>T	c.(34-36)Ccc>Tcc	p.P12S	GPX5_ENST00000469384.1_Missense_Mutation_p.P12S|GPX6_ENST00000483058.1_Intron	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	12					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CCATCTGCTTCCCCTTCTCCT	0.498000													10	127					0	0	0.00136819	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657511	72657511	+	RNA	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:72657511C>T	ENST00000425256.1	-	0	2400					NR_002164.1																						tgtcgtatttcgtcttcagga	0.507000													32	158					0	0	0.00283554	0	0
ERCC5	2073	broad.mit.edu	37	13	103520529	103520529	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr13:103520529C>T	ENST00000355739.4	+	12	4023	c.2600C>T	c.(2599-2601)cCa>cTa	p.P867L	ERCC5_ENST00000375954.1_Missense_Mutation_p.P100L|BIVM-ERCC5_ENST00000602836.1_Silent_p.T1292T	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GAAGGAATACCAACTGTGGGT	0.353000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				12	116					0	0	0.00136819	0	0
DNAH10	196385	broad.mit.edu	37	12	124265846	124265846	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:124265846G>A	ENST00000409039.3	+	6	683	c.658_splice	c.e6+1	p.G220_splice		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	220	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G38S(1)|p.G220S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCAACTTGAAGGTAAGGTTTC	0.353000													8	65					0	0	0.000442599	0	0
TUBB1	81027	broad.mit.edu	37	20	57599251	57599251	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:57599251A>G	ENST00000217133.1	+	4	1038	c.769A>G	c.(769-771)Atg>Gtg	p.M257V		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	257					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGCGGTGAACATGGTCCCCTT	0.642000													5	22					0	0	0.000602214	0	0
MYH7	4625	broad.mit.edu	37	14	23897715	23897715	+	Silent	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:23897715G>A	ENST00000355349.3	-	15	1734	c.1572C>T	c.(1570-1572)atC>atT	p.I524I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	524	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCACCTTCTCGATGAGGTCAA	0.512000													10	43					0	0	0.000442599	0	0
DNAH7	56171	broad.mit.edu	37	2	196619118	196619118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:196619118G>A	ENST00000312428.6	-	63	11807	c.11707C>T	c.(11707-11709)Ctt>Ttt	p.L3903F	DNAH7_ENST00000409063.1_Missense_Mutation_p.L386F	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3903					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCAAACCCAAGAAGATCAATA	0.483000													10	49					0	0	0.000673444	0	0
ATP8B4	79895	broad.mit.edu	37	15	50212451	50212451	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr15:50212451C>T	ENST00000284509.6	-	18	2056	c.1915G>A	c.(1915-1917)Gat>Aat	p.D639N	ATP8B4_ENST00000559829.1_Missense_Mutation_p.D639N	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	639					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACCATCAAATCTCTTTCAATT	0.383000													11	107					0	0	0.00185496	0	0
POTEF	728378	broad.mit.edu	37	2	130877804	130877804	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:130877804C>T	ENST00000357462.5	-	1	378	c.285G>A	c.(283-285)agG>agA	p.R95R	POTEF_ENST00000360967.5_Silent_p.R95R|POTEF_ENST00000361163.4_Silent_p.R95R|POTEF_ENST00000409914.2_Silent_p.R95R			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	95						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CCATCTTGTTCCTGAGTGTCT	0.612000													10	128					0	0	0.00244969	0	0
BBS9	27241	broad.mit.edu	37	7	33423343	33423343	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:33423343C>T	ENST00000242067.6	+	18	2376	c.1855C>T	c.(1855-1857)Cgc>Tgc	p.R619C	BBS9_ENST00000350941.3_Missense_Mutation_p.R579C|BBS9_ENST00000354265.4_Missense_Mutation_p.R584C|BBS9_ENST00000396127.2_Missense_Mutation_p.R584C|BBS9_ENST00000355070.2_Missense_Mutation_p.R614C	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	619					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.R619C(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GCTTATTCTTCGCCTTCAAGA	0.333000									Bardet-Biedl syndrome				9	42					0	0	0.000442599	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202446852	202446852	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:202446852C>T	ENST00000439140.1	-	5	649	c.605G>A	c.(604-606)gGg>gAg	p.G202E	ALS2CR11_ENST00000286195.3_Missense_Mutation_p.G202E|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.G202E|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.G202E	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	202										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CTGAACACTCCCTAACAAGAA	0.343000													16	71					0	0	0.000566183	0	0
NLRP3	114548	broad.mit.edu	37	1	247588501	247588501	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr1:247588501C>T	ENST00000366497.2	+	4	2536	c.1756C>T	c.(1756-1758)Cag>Tag	p.Q586*	NLRP3_ENST00000366496.2_Nonsense_Mutation_p.Q586*|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Nonsense_Mutation_p.Q586*|NLRP3_ENST00000348069.2_Nonsense_Mutation_p.Q586*|NLRP3_ENST00000391828.3_Nonsense_Mutation_p.Q586*|NLRP3_ENST00000391827.2_Nonsense_Mutation_p.Q586*	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	586					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCTGGTAAACCAGGAGAGGAC	0.448000													5	54					0	0	0.000602214	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518307	113518307	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:113518307G>A	ENST00000284601.3	-	4	2908	c.2840C>T	c.(2839-2841)tCt>tTt	p.S947F		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	947					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGATTTCGTAGAAATAGGTTG	0.378000													5	32					0	0	0.00198382	0	0
TGM3	7053	broad.mit.edu	37	20	2308852	2308852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr20:2308852G>A	ENST00000381458.5	+	9	1237	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	392					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TATCTTCGCGGAGGTTAATGC	0.552000													15	43					0	0	0.000308642	0	0
DPP4	1803	broad.mit.edu	37	2	162851471	162851471	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:162851471C>T	ENST00000360534.3	-	25	2759	c.2199_splice	c.e25+1	p.M733_splice	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	733					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TTTTCTATACCATTGCCTGGA	0.468000													6	31					0	0	0.00116845	0	0
SFRP2	6423	broad.mit.edu	37	4	154709608	154709608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:154709608G>A	ENST00000274063.4	-	1	664	c.380C>T	c.(379-381)cCg>cTg	p.P127L		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	127	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				GGACATGACCGGGGCGCAGCG	0.647000													6	66					0	0	0.000157383	0	0
GMIP	51291	broad.mit.edu	37	19	19746342	19746342	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:19746342G>A	ENST00000203556.4	-	15	1579	c.1442C>T	c.(1441-1443)cCc>cTc	p.P481L	GMIP_ENST00000445806.2_Missense_Mutation_p.P452L|GMIP_ENST00000587238.1_Missense_Mutation_p.P455L|GMIP_ENST00000586269.1_5'UTR	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	481					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTTCCCGAAGGGGCTGCCCAG	0.677000													6	26					0	0	0.00116845	0	0
NOP14	8602	broad.mit.edu	37	4	2941319	2941319	+	Silent	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:2941319C>T	ENST00000416614.2	-	16	2318	c.2253G>A	c.(2251-2253)cgG>cgA	p.R751R	NOP14_ENST00000398071.4_Silent_p.R751R|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000512802.1_RNA|NOP14-AS1_ENST00000512712.2_RNA|NOP14-AS1_ENST00000507999.1_RNA|NOP14_ENST00000507120.1_5'UTR|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14-AS1_ENST00000507702.1_RNA|NOP14_ENST00000314262.6_Silent_p.R751R|NOP14_ENST00000502735.1_Silent_p.R751R			P78316	NOP14_HUMAN	NOP14 nucleolar protein	751					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						AGGTCAGCGGCCGGCAGAGCT	0.587000													8	50					0	0	0.000274275	0	0
MKRN1	23608	broad.mit.edu	37	7	140156574	140156574	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr7:140156574G>A	ENST00000480552.1	-	3	311	c.215C>T	c.(214-216)tCt>tTt	p.S72F	MKRN1_ENST00000437223.2_Silent_p.V22V|MKRN1_ENST00000474576.1_Silent_p.V224V|MKRN1_ENST00000255977.2_Silent_p.V288V|MKRN1_ENST00000443720.2_Silent_p.V288V			Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	107							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CTTTCTCATAGACCACCTCCA	0.552000													6	44					0	0	0.00198382	0	0
ANO2	57101	broad.mit.edu	37	12	5841763	5841763	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr12:5841763G>A	ENST00000327087.8	-	15	1539	c.1468C>T	c.(1468-1470)Cga>Tga	p.R490*	ANO2_ENST00000356134.5_Nonsense_Mutation_p.R491*|ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000546188.1_Nonsense_Mutation_p.R491*			Q9NQ90	ANO2_HUMAN	anoctamin 2	495						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ATTTTCTCTCGAACTTTGGTT	0.453000													16	52					0	0	0.00074312	0	0
OR4D2	124538	broad.mit.edu	37	17	56247179	56247179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr17:56247179C>T	ENST00000545221.1	+	1	163	c.163C>T	c.(163-165)Ctc>Ttc	p.L55F		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TGATTCCCAGCTCCACACACC	0.483000													23	94					0	0	0.00106085	0	0
GCC2	9648	broad.mit.edu	37	2	109087883	109087884	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr2:109087883_109087884insA	ENST00000309863.6	+	6	2812_2813	c.2098_2099insA	c.(2098-2100)aaafs	p.K700fs		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	700					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTCAGTTCAGAAAAAAAACAG	0.307													8	371	---	---	---	---					
EPHA5	2044	broad.mit.edu	37	4	66286237	66286238	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr4:66286237_66286238insT	ENST00000273854.3	-	6	2048_2049	c.1448_1449insA	c.(1447-1449)aagfs	p.K483fs	EPHA5_ENST00000432638.2_Frame_Shift_Ins_p.K319fs|EPHA5_ENST00000511294.1_Frame_Shift_Ins_p.K483fs|EPHA5_ENST00000354839.4_Frame_Shift_Ins_p.K483fs	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	483	Fibronectin type-III 2.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.N483S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AAGAGATGCTGTTTTTTGCAAT	0.347										TSP Lung(17;0.13)			18	73	---	---	---	---					
MAP3K5	4217	broad.mit.edu	37	6	137018478	137018478	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:137018478delT	ENST00000359015.4	-	5	1214	c.854delA	c.(853-855)atfs	p.N285fs		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	285					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AGTGTATAAATTACGAGCTTT	0.373													22	99	---	---	---	---					
CCDC28A	25901	broad.mit.edu	37	6	139097330	139097330	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr6:139097330delA	ENST00000332797.6	+	2	498	c.343delA	c.(343-345)aafs	p.K116fs		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	116								p.N117fs*5(2)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TGTCAATGCCAAAAAAAATGC	0.413													9	104	---	---	---	---					
TRIM68	55128	broad.mit.edu	37	11	4626492	4626492	+	Frame_Shift_Del	DEL	T	T	-	rs35257042		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr11:4626492delT	ENST00000300747.5	-	2	532	c.243delA	c.(241-243)aafs	p.K81fs		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	81					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GCAGACGGACTTTTTCTACAA	0.537													8	126	---	---	---	---					
NIN	51199	broad.mit.edu	37	14	51210980	51210980	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr14:51210980delA	ENST00000245441.5	-	23	5358	c.5168delT	c.(5167-5169)tafs	p.L1723fs	NIN_ENST00000530997.2_Frame_Shift_Del_p.L1723fs|NIN_ENST00000453196.1_Frame_Shift_Del_p.L1723fs|NIN_ENST00000389868.3_Frame_Shift_Del_p.L1010fs|NIN_ENST00000382041.3_Frame_Shift_Del_p.L1723fs|NIN_ENST00000382043.4_Frame_Shift_Del_p.L1010fs|NIN_ENST00000324330.9_Frame_Shift_Del_p.L1723fs	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1723					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ACAGCTATTTAATTCCTCACT	0.403			T	PDGFRB	MPD								14	142	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43440068	43440069	+	RNA	DEL	AC	AC	-	rs72310923		TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:43440068_43440069delAC	ENST00000406070.2	-	0	161				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				acacacacaaacacacacacac	0.495													3	4	---	---	---	---					
ZNF229	7772	broad.mit.edu	37	19	44934670	44934670	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr19:44934670delT	ENST00000291187.4	-	6	590	c.268delA	c.(268-270)ggfs	p.R90fs	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Frame_Shift_Del_p.R96fs	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	96	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GAAAAGAACCTTAATTCTTCA	0.413													9	66	---	---	---	---					
MGAT3	4248	broad.mit.edu	37	22	39883513	39883513	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:39883513delC	ENST00000341184.6	+	2	376	c.161delC	c.(160-162)gcfs	p.A54fs		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	54	Pro-rich.				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TGGAACAATGCCCCGGTCACG	0.647													14	120	---	---	---	---					
C22orf26	55267	broad.mit.edu	37	22	46449723	46449723	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A3AA-06A-11D-A196-08	TCGA-EE-A3AA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91551b09-5767-4398-9aef-a73376286ca4	98958654-c8e7-42c9-be84-c406455832aa	g.chr22:46449723delA	ENST00000396008.2	-	1	301	c.251delT	c.(250-252)tgfs	p.L84fs	C22orf26_ENST00000333761.1_Frame_Shift_Del_p.L84fs			Q9NV39	CV026_HUMAN	chromosome 22 open reading frame 26	84	Pro-rich.												Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.0784)|LUAD - Lung adenocarcinoma(64;0.247)		AGGGTGGGGCAAACGCGGAGC	0.751													2	4	---	---	---	---