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
ARID4B	51742	broad.mit.edu	37	1	235345584	235345584	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:235345584C>A	ENST00000264183.3	-	20	3147	c.2650G>T	c.(2650-2652)Gaa>Taa	p.E884*	ARID4B_ENST00000349213.3_Nonsense_Mutation_p.E798*|ARID4B_ENST00000366603.2_Nonsense_Mutation_p.E884*	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	884					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTTCTTTTTTCCTCCAAACCA	0.343000													7	101					0.00307968	0.00315885	0.003080	1	0
GRAMD1A	57655	broad.mit.edu	37	19	35502416	35502416	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:35502416C>T	ENST00000599564.1	+	8	896	c.825C>T	c.(823-825)ttC>ttT	p.F275F	GRAMD1A_ENST00000317991.5_Silent_p.F188F|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000411896.2_Silent_p.F181F			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	188						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACCGCTGCTTCCTCCTCATCT	0.617000													11	129					0	0	0.002450	0	0
SDHAP1	255812	broad.mit.edu	37	3	195698269	195698269	+	RNA	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:195698269G>C	ENST00000427841.1	-	0	1603					NR_003264.2																						CAACATTCGTGACAGATTCTT	0.398000													7	71					0	0	0.003080	0	0
IMPA2	3613	broad.mit.edu	37	18	12028874	12028874	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr18:12028874C>T	ENST00000269159.3	+	7	875	c.633C>T	c.(631-633)ctC>ctT	p.L211L	IMPA2_ENST00000589238.1_Silent_p.L22L|IMPA2_ENST00000588927.1_Silent_p.L22L	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	211					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	CATTGGCACTCTGCCACCTGG	0.617000													42	63					0	0	0.010771	0	0
RIPK1	8737	broad.mit.edu	37	6	3081283	3081283	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:3081283G>C	ENST00000259808.4	+	4	690	c.392G>C	c.(391-393)gGa>gCa	p.G131A	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Intron|RIPK1_ENST00000380409.2_Missense_Mutation_p.G131A			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	131	Protein kinase.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TACTTACATGGAAAAGGCGTG	0.368000													13	42					0	0	0.001368	0	0
FLG2	388698	broad.mit.edu	37	1	152323370	152323370	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:152323370G>A	ENST00000388718.5	-	3	6964	c.6892C>T	c.(6892-6894)Cat>Tat	p.H2298Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2298							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)			GTCTGTCCATGAGTAGTTTCC	0.483000													25	313					0	0	0.002780	0	0
MALAT1	378938	broad.mit.edu	37	11	65272924	65272924	+	RNA	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:65272924G>A	ENST00000534336.1	+	0	7692					NR_002819.2																						AATCTCAAGCGGTGCTTGAAG	0.463000													15	70					0	0	0.008871	0	0
WDR31	114987	broad.mit.edu	37	9	116083793	116083793	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:116083793G>A	ENST00000374193.4	-	8	882	c.636C>T	c.(634-636)ctC>ctT	p.L212L	WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000374195.3_Silent_p.L87L|WDR31_ENST00000341761.4_Silent_p.L211L	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	212										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						AAGCCCACCTGAGGGTTTTAT	0.478000													13	26					0	0	0.002450	0	0
ACIN1	22985	broad.mit.edu	37	14	23549752	23549752	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:23549752C>G	ENST00000262710.1	-	6	1293	c.966G>C	c.(964-966)gaG>gaC	p.E322D	ACIN1_ENST00000555053.1_Missense_Mutation_p.E322D|ACIN1_ENST00000457657.1_Missense_Mutation_p.E282D|ACIN1_ENST00000605057.1_Missense_Mutation_p.E264D	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	322	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TTTTGGGTCTCTCATCCATCA	0.463000													30	83					0	0	0.007291	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104245125	104245125	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:104245125C>G	ENST00000202556.9	-	4	593	c.311G>C	c.(310-312)aGa>aCa	p.R104T		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	104					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)				TATTACATTTCTCTGAGTTCG	0.363000													17	42					0	0	0.006122	0	0
IGSF21	84966	broad.mit.edu	37	1	18703351	18703351	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:18703351G>A	ENST00000251296.1	+	8	1542	c.1159G>A	c.(1159-1161)Gac>Aac	p.D387N	IGSF21_ENST00000473951.1_3'UTR	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	387	Ig-like 2.					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)		CCGCCTCCTGGACGGCAGCGC	0.657000													20	43					0	0	0.007413	0	0
OR4D2	124538	broad.mit.edu	37	17	56247319	56247319	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:56247319C>G	ENST00000545221.1	+	1	303	c.303C>G	c.(301-303)atC>atG	p.I101M		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	101					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						TGGGTCAGATCTTCTTCTTCC	0.527000													10	121					0	0	0.006214	0	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709486	31709486	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:31709486G>A	ENST00000382835.2	-	1	526	c.501C>T	c.(499-501)aaC>aaT	p.N167N		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	167						intermediate filament				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						TGGATTCAGGGTTCTGAGACT	0.478000													31	78					0	0	0.010818	0	0
TTL	150465	broad.mit.edu	37	2	113258890	113258890	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:113258890G>C	ENST00000233336.5	+	4	768	c.577G>C	c.(577-579)Gag>Cag	p.E193Q		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	193	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		TCTGCTGCTTGAGCCAGGTCA	0.463000			T	ETV6	ALL								13	49					0	0	0.001368	0	0
SETD5	55209	broad.mit.edu	37	3	9517533	9517533	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:9517533C>T	ENST00000402466.1	+	24	4561	c.3793C>T	c.(3793-3795)Cag>Tag	p.Q1265*	SETD5_ENST00000402198.1_Nonsense_Mutation_p.Q1363*|SETD5_ENST00000302463.6_Nonsense_Mutation_p.Q1265*|SETD5_ENST00000407969.1_Nonsense_Mutation_p.Q1382*|SETD5_ENST00000406341.1_Nonsense_Mutation_p.Q1363*			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1363	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TTCAGTTTCTCAGTCCAGCAC	0.552000													19	22					0	0	0.008871	0	0
C4orf45	152940	broad.mit.edu	37	4	159836377	159836377	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:159836377G>A	ENST00000434826.2	-	4	575	c.491C>T	c.(490-492)tCa>tTa	p.S164L	C4orf45_ENST00000508011.1_5'UTR	NM_152543.2	NP_689756.2	Q96LM5	CD045_HUMAN	chromosome 4 open reading frame 45	164										large_intestine(2)|lung(3)	5						TCTTGGCAATGATGACTTACA	0.423000													12	24					0	0	0.001855	0	0
SELO	83642	broad.mit.edu	37	22	50654234	50654234	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:50654234G>A	ENST00000380903.2	+	6	1498	c.1440G>A	c.(1438-1440)ctG>ctA	p.L480L	RP3-402G11.5_ENST00000492092.1_3'UTR	NM_031454.1	NP_113642.1																					TGGCCAGGCTGATGGAGCAGT	0.587000													31	63					0	0	0.007291	0	0
NEB	4703	broad.mit.edu	37	2	152381070	152381070	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:152381070C>G	ENST00000397345.3	-	152	22535	c.22333G>C	c.(22333-22335)Gac>Cac	p.D7445H	NEB_ENST00000409198.1_Missense_Mutation_p.D5744H|NEB_ENST00000604864.1_Missense_Mutation_p.D7445H|NEB_ENST00000172853.10_Missense_Mutation_p.D5744H|NEB_ENST00000427231.2_Missense_Mutation_p.D7445H|NEB_ENST00000603639.1_Missense_Mutation_p.D7445H	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5744					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)		TTCTTGATGTCTGGTCGATCA	0.502000													49	146					0	0	0.003610	0	0
MIB1	57534	broad.mit.edu	37	18	19429231	19429231	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr18:19429231C>G	ENST00000261537.6	+	17	2732	c.2468C>G	c.(2467-2469)tCa>tGa	p.S823*	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	823					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			ATGGTGTGCTCAGATATGAAG	0.378000													50	127					0	0	0.003610	0	0
PACSIN2	11252	broad.mit.edu	37	22	43272287	43272287	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:43272287C>G	ENST00000263246.3	-	10	1405	c.1204G>C	c.(1204-1206)Gag>Cag	p.E402Q	PACSIN2_ENST00000496919.1_5'UTR|PACSIN2_ENST00000407585.1_Missense_Mutation_p.E361Q|PACSIN2_ENST00000403744.3_Missense_Mutation_p.E402Q|PACSIN2_ENST00000402229.1_Missense_Mutation_p.E402Q|PACSIN2_ENST00000337959.4_Missense_Mutation_p.E361Q	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	402					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				TTGTTAGACTCATCGTCTGAC	0.617000													14	51					0	0	0.003163	0	0
CDH13	1012	broad.mit.edu	37	16	83636065	83636065	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:83636065G>C	ENST00000566620.1	+	8	1257	c.967G>C	c.(967-969)Gaa>Caa	p.E323Q	CDH13_ENST00000268613.10_Missense_Mutation_p.E370Q|CDH13_ENST00000428848.3_Missense_Mutation_p.E284Q	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	323	Cadherin 2.				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)		GTAGACTCTGGAAAATCCCAA	0.463000													67	241					0	0	0.003610	0	0
LRRC37B	114659	broad.mit.edu	37	17	30376383	30376383	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:30376383G>C	ENST00000327564.7	+	10	2788	c.2727G>C	c.(2725-2727)caG>caC	p.Q909H	LRRC37B_ENST00000543378.2_Missense_Mutation_p.Q800H|LRRC37B_ENST00000394713.3_Missense_Mutation_p.Q831H|LRRC37B_ENST00000341671.7_Missense_Mutation_p.Q882H|LRRC37B_ENST00000584368.1_Missense_Mutation_p.Q843H			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	882						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ACATGGAACAGAATGAACAGA	0.433000													4	9					0	0	0.009096	0	0
FCGR2A	2212	broad.mit.edu	37	1	161476260	161476260	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:161476260C>G	ENST00000271450.6	+	3	281	c.243C>G	c.(241-243)ctC>ctG	p.L81L	FCGR2A_ENST00000367972.4_Silent_p.L80L|FCGR2A_ENST00000467525.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	81	Ig-like C2-type 1.					integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATGGGAATCTCATTCCCACCC	0.597000													13	75					0	0	0.006122	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662840	662840	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:662840G>A	ENST00000266383.5	+	14	1764	c.1751G>A	c.(1750-1752)gGa>gAa	p.G584E		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	584						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CAGGCCCCTGGAAGGGGCTGG	0.642000													9	36					0	0	0.008291	0	0
USPL1	10208	broad.mit.edu	37	13	31232715	31232715	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:31232715C>T	ENST00000255304.4	+	9	2843	c.2501C>T	c.(2500-2502)tCg>tTg	p.S834L		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	834					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GGCCCTCCATCGTCTAATGGC	0.507000													17	70					0	0	0.006122	0	0
CCNG2	901	broad.mit.edu	37	4	78079754	78079754	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:78079754C>G	ENST00000316355.5	+	2	425	c.69C>G	c.(67-69)gtC>gtG	p.V23V	CCNG2_ENST00000354403.5_Silent_p.V23V|CCNG2_ENST00000509972.1_Silent_p.V23V|CCNG2_ENST00000502280.1_Silent_p.V23V|CCNG2_ENST00000395640.1_Silent_p.V23V|CCNG2_ENST00000497512.1_3'UTR	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	23					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TGTTGAACGTCTACCTGGAAC	0.478000													28	87					0	0	0.005443	0	0
BID	637	broad.mit.edu	37	22	18220787	18220787	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:18220787C>T	ENST00000317361.7	-	5	1036	c.710G>A	c.(709-711)aGa>aAa	p.R237K	BID_ENST00000399774.3_Missense_Mutation_p.R191K|BID_ENST00000399767.1_Missense_Mutation_p.R95K|BID_ENST00000342111.5_3'UTR|BID_ENST00000551952.1_Missense_Mutation_p.R191K|BID_ENST00000399765.1_Missense_Mutation_p.R95K	NM_197966.2	NP_932070.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	191					activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding	p.R237K(1)		large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		TCTTACATTTCTGGCTAAGCT	0.552000													24	66					0	0	0.002780	0	0
LILRA6	79168	broad.mit.edu	37	19	54744933	54744933	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:54744933G>A	ENST00000440558.2	-	5	777	c.729C>T	c.(727-729)ctC>ctT	p.L243L	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Silent_p.L243L|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000396365.2_Silent_p.L243L|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Silent_p.L243L					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6									p.L243L(1)		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)		AGCCACACTGGAGGGTCAGGC	0.637000													13	95					0	0	0.003163	0	0
ZNF766	90321	broad.mit.edu	37	19	52793884	52793884	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:52793884C>T	ENST00000439461.1	+	4	883	c.840C>T	c.(838-840)ttC>ttT	p.F280F	CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000593612.1_Silent_p.F295F|ZNF766_ENST00000359102.4_Silent_p.F295F	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		GCAAGGTCTTCAGTCGAATTA	0.403000													7	24					0	0	0.001984	0	0
FLG	2312	broad.mit.edu	37	1	152283709	152283709	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:152283709C>G	ENST00000368799.1	-	3	3688	c.3653G>C	c.(3652-3654)aGa>aCa	p.R1218T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1218	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)			ACGAGTTTGTCTGCTTGCACT	0.552000									Ichthyosis				126	378					0	0	0.003610	0	0
ZNF608	57507	broad.mit.edu	37	5	123984351	123984351	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:123984351G>A	ENST00000306315.5	-	4	2161	c.1726C>T	c.(1726-1728)Cat>Tat	p.H576Y	ZNF608_ENST00000504926.1_Missense_Mutation_p.H149Y	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	576						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		AAGTGTGCATGAGCCTGGTGG	0.493000													28	89					0	0	0.006320	0	0
ODAM	54959	broad.mit.edu	37	4	71068032	71068032	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:71068032G>A	ENST00000396094.2	+	8	682	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	212					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CACAGCTCCTGAAATTGCTGT	0.373000													12	34					0	0	0.001855	0	0
TMEM108	66000	broad.mit.edu	37	3	133109176	133109176	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:133109176G>A	ENST00000321871.6	+	5	1813	c.1603G>A	c.(1603-1605)Gag>Aag	p.E535K	TMEM108_ENST00000508711.1_Missense_Mutation_p.E65K|TMEM108_ENST00000393130.3_Missense_Mutation_p.E535K	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	535						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGAAACCTCTGAGGTAATGAG	0.532000													43	227					0	0	0.008740	0	0
GBA2	57704	broad.mit.edu	37	9	35737182	35737182	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:35737182T>A	ENST00000378103.3	-	17	3291	c.2768A>T	c.(2767-2769)aAc>aTc	p.N923I	GBA2_ENST00000378094.4_3'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.N929I|GBA2_ENST00000378088.1_3'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	923					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGGCTCAGGTTTGCCATGGC	0.572000													10	89					0	0	0.008291	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12823101	12823101	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:12823101G>A	ENST00000379672.5	+	6	717	c.417G>A	c.(415-417)agG>agA	p.R139R	ARHGAP44_ENST00000340825.3_Silent_p.R139R|ARHGAP44_ENST00000262444.9_Silent_p.R139R	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	139	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						AAAAGCAGAGGAAACACTTAG	0.378000													3	12					0	0	0.004672	0	0
OSCP1	127700	broad.mit.edu	37	1	36883811	36883811	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:36883811C>G	ENST00000356637.5	-	11	1162	c.1099G>C	c.(1099-1101)Gag>Cag	p.E367Q	OSCP1_ENST00000433045.2_Missense_Mutation_p.E312Q|OSCP1_ENST00000235532.5_Missense_Mutation_p.E357Q|OSCP1_ENST00000315643.9_Intron|OSCP1_ENST00000495222.1_5'UTR			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	367					transport	basal plasma membrane		p.E367Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						TCCGTGATCTCAAACTCCCCC	0.577000													7	36					0	0	0.001984	0	0
LEPREL1	55214	broad.mit.edu	37	3	189681803	189681803	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:189681803C>T	ENST00000319332.5	-	14	2175	c.1978G>A	c.(1978-1980)Gga>Aga	p.G660R	LEPREL1_ENST00000427335.2_Missense_Mutation_p.G479R	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	660	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CACCTCTTTCCCTTGGTGACT	0.493000													26	151					0	0	0.004656	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959828	45959828	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:45959828G>A	ENST00000400375.1	-	1	250	c.206C>T	c.(205-207)tCa>tTa	p.S69L	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	69	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GGTGCAGCCTGATTGGCAGGG	0.716000													20	75					0	0	0.012319	0	0
WDFY3	23001	broad.mit.edu	37	4	85672736	85672736	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:85672736G>C	ENST00000322366.6	-	36	6280	c.5873C>G	c.(5872-5874)gCt>gGt	p.A1958G	WDFY3_ENST00000295888.4_Missense_Mutation_p.A1958G			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1958						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GAACTTTTTAGCCGGGTGATT	0.458000													38	91					0	0	0.004289	0	0
CC2D1A	54862	broad.mit.edu	37	19	14020719	14020719	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:14020719C>T	ENST00000318003.7	+	2	385	c.144C>T	c.(142-144)ttC>ttT	p.F48F	CC2D1A_ENST00000589606.1_Silent_p.F48F	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	48					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AGGCTGAGTTCTTGGCTTTGG	0.567000													20	67					0	0	0.008871	0	0
TMEM53	79639	broad.mit.edu	37	1	45120816	45120816	+	Silent	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:45120816G>T	ENST00000372237.3	-	3	412	c.249C>A	c.(247-249)atC>atA	p.I83I	TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372235.3_Intron|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372242.3_Silent_p.I83I	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	83						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					GAAGTGAAGGGATACCCAGTG	0.552000											OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	47					4.68919e-08	4.96942e-08	0.008291	1	0
AIP	9049	broad.mit.edu	37	11	67254633	67254633	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:67254633G>C	ENST00000279146.3	+	2	374	c.256G>C	c.(256-258)Gcc>Ccc	p.A86P		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	86	PPIase FKBP-type.				protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						AGGGGAGATTGCCCAGTTCCT	0.582000									Familial Isolated Pituitary Adenoma				11	129					0	0	0.001368	0	0
ZNF10	7556	broad.mit.edu	37	12	133732691	133732691	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:133732691C>T	ENST00000248211.6	+	5	1081	c.859C>T	c.(859-861)Cat>Tat	p.H287Y	ZNF10_ENST00000402932.2_Missense_Mutation_p.H153Y|ZNF10_ENST00000426665.2_Missense_Mutation_p.H287Y|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF268_ENST00000416488.1_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TCAGCTTATTCATACTGGAGA	0.418000													16	39					0	0	0.004990	0	0
TNK2	10188	broad.mit.edu	37	3	195595101	195595101	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:195595101C>G	ENST00000333602.6	-	12	2640	c.2023G>C	c.(2023-2025)Gag>Cag	p.E675Q	TNK2_ENST00000428187.1_Missense_Mutation_p.E707Q|TNK2_ENST00000392400.1_Missense_Mutation_p.E675Q|TNK2_ENST00000381916.2_Missense_Mutation_p.E753Q	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	675	Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CGCGCCTGCTCAGGCACAAAG	0.682000													10	72					0	0	0.006214	0	0
TMC2	117532	broad.mit.edu	37	20	2560666	2560666	+	Silent	SNP	T	T	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:2560666T>A	ENST00000358864.1	+	7	813	c.798T>A	c.(796-798)ctT>ctA	p.L266L		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	266						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ACCTTGTCCTTTTTGGCTTAA	0.393000													6	82					0	0	0.003080	0	0
MCTS1	28985	broad.mit.edu	37	X	119738100	119738100	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:119738100G>C	ENST00000371317.5	+	1	266	c.9G>C	c.(7-9)aaG>aaC	p.K3N		NM_014060.2	NP_054779.1	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1	3					cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						TCATGTTCAAGAAGTAAGGAC	0.582000													8	24					0	0	0.006214	0	0
S100A14	57402	broad.mit.edu	37	1	153587810	153587810	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:153587810G>C	ENST00000368702.1	-	4	350	c.78C>G	c.(76-78)atC>atG	p.I26M	S100A14_ENST00000344616.2_Missense_Mutation_p.I26M|S100A14_ENST00000368701.1_Missense_Mutation_p.I26M|S100A14_ENST00000368700.3_5'UTR|S100A14_ENST00000476873.1_Missense_Mutation_p.I26M			Q9HCY8	S10AE_HUMAN	S100 calcium binding protein A14	26					calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway	cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm	calcium ion binding|chemokine receptor binding			kidney(2)|large_intestine(1)|lung(1)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAAAGTTCTTGATGAGGGTCT	0.572000													20	38					0	0	0.007413	0	0
TRIP11	9321	broad.mit.edu	37	14	92471181	92471181	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471181C>G	ENST00000267622.4	-	11	3512	c.3139G>C	c.(3139-3141)Gat>Cat	p.D1047H		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1047					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GACAACTGATCAATCTGTTTA	0.328000			T	PDGFRB	AML								9	41					0	0	0.004482	0	0
NAB2	4665	broad.mit.edu	37	12	57484986	57484986	+	Silent	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57484986C>A	ENST00000300131.3	+	2	540	c.162C>A	c.(160-162)ctC>ctA	p.L54L	NAB2_ENST00000554718.1_Intron|NAB2_ENST00000357680.4_Silent_p.L54L|NAB2_ENST00000342556.6_Silent_p.L54L	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	54	NCD1.				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GCGCCAACCTCCTTTCCTACT	0.632000													25	102					7.88262e-20	8.67632e-20	0.003330	1	0
FERMT3	83706	broad.mit.edu	37	11	63990903	63990903	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:63990903G>A	ENST00000279227.5	+	15	2038	c.1943G>A	c.(1942-1944)cGt>cAt	p.R648H	FERMT3_ENST00000345728.5_Missense_Mutation_p.R644H	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	648					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GAGCGGGCCCGTGGGGAGGAG	0.612000													8	42					0	0	0.004482	0	0
TRIP11	9321	broad.mit.edu	37	14	92471643	92471643	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471643C>T	ENST00000267622.4	-	11	3050	c.2677G>A	c.(2677-2679)Gaa>Aaa	p.E893K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	893					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GATGCTAGTTCAGTAACACTA	0.403000			T	PDGFRB	AML								18	89					0	0	0.007413	0	0
NACA	4666	broad.mit.edu	37	12	57106861	57106861	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57106861C>G	ENST00000454682.1	-	7	6365	c.6084G>C	c.(6082-6084)gaG>gaC	p.E2028D	NACA_ENST00000356769.3_Missense_Mutation_p.E165D|NACA_ENST00000546392.1_Missense_Mutation_p.E165D|NACA_ENST00000550952.1_Missense_Mutation_p.E875D|NACA_ENST00000552540.1_Missense_Mutation_p.E165D|NACA_ENST00000393891.4_Missense_Mutation_p.E165D|NACA_ENST00000548563.1_Missense_Mutation_p.E86D	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	165					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CCTCTTCACTCTCCTCTTGTA	0.403000			T	BCL6	NHL								7	41					0	0	0.003080	0	0
TMEM140	55281	broad.mit.edu	37	7	134849728	134849728	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:134849728G>C	ENST00000275767.2	+	2	758	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	C7orf49_ENST00000459937.1_Intron	NM_018295.4	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	179						integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						TGAGAGGGCTGAGAGCAAGCT	0.557000													14	30					0	0	0.003163	0	0
NACC1	112939	broad.mit.edu	37	19	13247198	13247198	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:13247198G>T	ENST00000292431.4	+	3	1225	c.1099G>T	c.(1099-1101)Gag>Tag	p.E367*		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	367					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						CGACCCCTCTGAGAAGCTGGA	0.652000													14	51					4.14922e-12	4.47443e-12	0.004007	1	0
HOMER2	9455	broad.mit.edu	37	15	83518566	83518566	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:83518566C>T	ENST00000304231.8	-	9	1158	c.966G>A	c.(964-966)ctG>ctA	p.L322L	HOMER2_ENST00000426485.1_Silent_p.L267L|HOMER2_ENST00000450735.2_Silent_p.L311L|HOMER2_ENST00000399166.2_Silent_p.L256L	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	322					metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						ACTCCACCTTCAGGTGGCGCT	0.547000											OREG0023389	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	55					0	0	0.004656	0	0
PI4KA	5297	broad.mit.edu	37	22	21107310	21107310	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:21107310C>T	ENST00000255882.6	-	25	2954	c.2868G>A	c.(2866-2868)aaG>aaA	p.K956K	PI4KA_ENST00000572273.1_Silent_p.K898K	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	898					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TCTCCTTGGTCTTGGCCTAGA	0.537000													29	50					0	0	0.007291	0	0
AAK1	22848	broad.mit.edu	37	2	69704114	69704114	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:69704114C>T	ENST00000409085.4	-	21	3065	c.2689G>A	c.(2689-2691)Gat>Aat	p.D897N	AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	897						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						AGATTACTATCTTCTGCAGCT	0.423000													3	11					0	0	0.004672	0	0
C16orf62	57020	broad.mit.edu	37	16	19659193	19659193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:19659193C>T	ENST00000438132.3	+	24	2332	c.2284C>T	c.(2284-2286)Cag>Tag	p.Q762*	C16orf62_ENST00000544275.1_3'UTR|C16orf62_ENST00000251143.5_Nonsense_Mutation_p.Q673*|C16orf62_ENST00000543152.1_Nonsense_Mutation_p.Q422*|C16orf62_ENST00000417362.2_Nonsense_Mutation_p.Q606*|C16orf62_ENST00000542263.1_Nonsense_Mutation_p.Q695*|C16orf62_ENST00000448695.1_Nonsense_Mutation_p.Q523*	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	673						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGTTCTTGTGCAGTTGATTCA	0.328000													24	76					0	0	0.003330	0	0
PARP8	79668	broad.mit.edu	37	5	50118221	50118221	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:50118221G>A	ENST00000281631.5	+	17	2005	c.1847G>A	c.(1846-1848)aGa>aAa	p.R616K	PARP8_ENST00000503750.2_Missense_Mutation_p.R574K|PARP8_ENST00000514342.2_Missense_Mutation_p.R327K|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.R595K|PARP8_ENST00000505697.2_Missense_Mutation_p.R616K|PARP8_ENST00000514067.2_Missense_Mutation_p.R574K	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	616						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ACTTCTATCAGAGAAATGACA	0.308000													18	96					0	0	0.007413	0	0
CACNA1G	8913	broad.mit.edu	37	17	48684289	48684289	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:48684289C>G	ENST00000352832.5	+	23	4754	c.4382C>G	c.(4381-4383)tCc>tGc	p.S1461C	CACNA1G_ENST00000442258.2_Missense_Mutation_p.S1461C|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S1461C|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S1484C|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S1461C|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S1461C|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S1484C|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S1484C|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S1484C|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S1461C|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S1461C|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S1461C|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S1484C	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1484					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTTTTGGCCTCCAAGGATGGT	0.577000													16	41					0	0	0.004007	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93163911	93163911	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:93163911G>C	ENST00000344636.3	+	12	1264	c.1080G>C	c.(1078-1080)aaG>aaC	p.K360N		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	360					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						GCTTTACCAAGAGTCAGGAAA	0.333000													14	37					0	0	0.004007	0	0
B3GALT2	8707	broad.mit.edu	37	1	193150249	193150249	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:193150249C>T	ENST00000367434.4	-	2	1199	c.444G>A	c.(442-444)gaG>gaA	p.E148E	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	148					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						AAGGACTTTTCTCTTGGCATT	0.368000													29	67					0	0	0.007291	0	0
FANCA	2175	broad.mit.edu	37	16	89858379	89858379	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:89858379G>C	ENST00000389301.3	-	13	1211	c.1181C>G	c.(1180-1182)tCt>tGt	p.S394C	FANCA_ENST00000568369.1_Missense_Mutation_p.S394C	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	394					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AACCAGGGCAGACACAAAGGA	0.552000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				15	48					0	0	0.004007	0	0
AGL	178	broad.mit.edu	37	1	100346890	100346890	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:100346890C>T	ENST00000294724.4	+	16	2522	c.2044C>T	c.(2044-2046)Cct>Tct	p.P682S	AGL_ENST00000361915.3_Missense_Mutation_p.P682S|AGL_ENST00000370161.2_Missense_Mutation_p.P666S|AGL_ENST00000361302.3_Missense_Mutation_p.P666S|AGL_ENST00000361522.4_Missense_Mutation_p.P665S|AGL_ENST00000370165.3_Missense_Mutation_p.P682S|AGL_ENST00000370163.3_Missense_Mutation_p.P682S	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	682					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)		TAAGTGGAATCCTGAAGCATT	0.373000													19	58					0	0	0.008871	0	0
CCNT1	904	broad.mit.edu	37	12	49088089	49088089	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:49088089G>A	ENST00000261900.3	-	9	1130	c.908C>T	c.(907-909)tCa>tTa	p.S303L		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	303					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GGTAGAAGTTGACATGCTCAT	0.493000													31	61					0	0	0.008361	0	0
NSUN7	79730	broad.mit.edu	37	4	40752873	40752873	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:40752873C>G	ENST00000381782.2	+	2	658	c.163C>G	c.(163-165)Cag>Gag	p.Q55E	NSUN7_ENST00000316607.5_Missense_Mutation_p.Q55E	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						CAACATTTTTCAGGGTATTCG	0.512000													40	94					0	0	0.006230	0	0
OVCH1	341350	broad.mit.edu	37	12	29649538	29649538	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:29649538G>C	ENST00000318184.5	-	2	133	c.134C>G	c.(133-135)tCt>tGt	p.S45C		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	45	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ACTAATTCTAGAGAAGAATCT	0.413000													40	90					0	0	0.004878	0	0
LIN54	132660	broad.mit.edu	37	4	83859644	83859644	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:83859644G>A	ENST00000340417.3	-	8	1831	c.1454C>T	c.(1453-1455)tCa>tTa	p.S485L	LIN54_ENST00000506560.1_Missense_Mutation_p.S396L|LIN54_ENST00000505397.1_Missense_Mutation_p.S485L|LIN54_ENST00000446851.2_Missense_Mutation_p.S264L|LIN54_ENST00000442461.2_Missense_Mutation_p.S264L|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000395283.2_Missense_Mutation_p.S396L|LIN54_ENST00000510557.1_Missense_Mutation_p.S264L	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	485					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				TGATACATATGAAGACTGCTG	0.353000													4	55					0	0	0.000602	0	0
NACA	4666	broad.mit.edu	37	12	57106606	57106606	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57106606C>T	ENST00000454682.1	-	8	6467	c.6186G>A	c.(6184-6186)ctG>ctA	p.L2062L	NACA_ENST00000356769.3_Silent_p.L199L|NACA_ENST00000546392.1_Silent_p.L199L|NACA_ENST00000550952.1_Silent_p.L909L|NACA_ENST00000552540.1_Silent_p.L199L|NACA_ENST00000393891.4_Silent_p.L199L|NACA_ENST00000548563.1_Silent_p.L120L	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	199					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGTTGTTCTTCAGGGCTCGGA	0.423000			T	BCL6	NHL								15	84					0	0	0.004990	0	0
SLC4A9	83697	broad.mit.edu	37	5	139745591	139745591	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:139745591G>A	ENST00000230993.6	+	13	1990	c.1955G>A	c.(1954-1956)cGc>cAc	p.R652H	SLC4A9_ENST00000506545.1_Intron|SLC4A9_ENST00000432095.2_Missense_Mutation_p.R614H|SLC4A9_ENST00000506757.2_Missense_Mutation_p.R628H|SLC4A9_ENST00000507527.1_Missense_Mutation_p.R652H	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	652	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGACCAGCCGCTTCTTCCCC	0.493000													73	198					0	0	0.003610	0	0
MBD3	53615	broad.mit.edu	37	19	1585105	1585105	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:1585105C>T	ENST00000590550.2	-	1	424	c.51G>A	c.(49-51)aaG>aaA	p.K17K	MBD3_ENST00000434436.3_Silent_p.K73K|MBD3_ENST00000156825.1_Silent_p.K73K|MBD3_ENST00000592012.1_Silent_p.K41K|MBD3_ENST00000585967.1_5'UTR			O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	73	MBD.				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTTGTTCATCTTGCTCATCA	0.647000													6	25					0	0	0.001984	0	0
ZNRF3	84133	broad.mit.edu	37	22	29445929	29445929	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:29445929G>A	ENST00000544604.2	+	8	1935	c.1760G>A	c.(1759-1761)cGc>cAc	p.R587H	ZNRF3_ENST00000402174.1_Missense_Mutation_p.R487H|ZNRF3_ENST00000406323.3_Missense_Mutation_p.R487H|ZNRF3_ENST00000332811.4_Missense_Mutation_p.R487H	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	587						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						TCCACCTTCCGCAGCTCCCTC	0.667000													32	109					0	0	0.012213	0	0
AFM	173	broad.mit.edu	37	4	74361120	74361120	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:74361120G>A	ENST00000226355.3	+	9	1255	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	388	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTGCAACACAGAAAACCCTCC	0.363000													15	44					0	0	0.003163	0	0
METTL6	131965	broad.mit.edu	37	3	15467880	15467880	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:15467880G>C	ENST00000443029.1	-	2	379	c.139C>G	c.(139-141)Ctt>Gtt	p.L47V	METTL6_ENST00000450816.2_Missense_Mutation_p.L47V|METTL6_ENST00000383790.3_Missense_Mutation_p.L47V|METTL6_ENST00000383789.5_Missense_Mutation_p.L47V			Q8TCB7	METL6_HUMAN	methyltransferase like 6	47							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						TTGTAAAAAAGATCCCAATTT	0.373000													14	43					0	0	0.001855	0	0
MALAT1	378938	broad.mit.edu	37	11	65272755	65272755	+	RNA	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:65272755G>T	ENST00000534336.1	+	0	7523					NR_002819.2																						CTAAGGTCAAGAGAAGTGTCA	0.483000													9	32					1.12685e-05	1.17239e-05	0.004482	1	0
GAPVD1	26130	broad.mit.edu	37	9	128086134	128086134	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:128086134C>T	ENST00000470056.1	+	9	1950	c.1790C>T	c.(1789-1791)tCa>tTa	p.S597L	GAPVD1_ENST00000495955.1_Missense_Mutation_p.S597L|GAPVD1_ENST00000394104.2_Missense_Mutation_p.S597L|GAPVD1_ENST00000312123.9_Missense_Mutation_p.S576L|GAPVD1_ENST00000394105.2_Missense_Mutation_p.S597L|GAPVD1_ENST00000297933.6_Missense_Mutation_p.S597L|GAPVD1_ENST00000265956.4_Missense_Mutation_p.S597L|GAPVD1_ENST00000394083.2_Missense_Mutation_p.S576L			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	597					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GAGTCTGTGTCAGAACTTGGA	0.428000													11	53					0	0	0.010729	0	0
ENAM	10117	broad.mit.edu	37	4	71508617	71508617	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:71508617G>A	ENST00000396073.3	+	9	1755	c.1474G>A	c.(1474-1476)Gaa>Aaa	p.E492K	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	492					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TGATCAACATGAAAACTCCTA	0.378000													7	30					0	0	0.004482	0	0
POM121L12	285877	broad.mit.edu	37	7	53103789	53103789	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:53103789C>T	ENST00000408890.4	+	1	441	c.425C>T	c.(424-426)gCg>gTg	p.A142V		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	142								p.A142V(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ATCGGGATCGCGCCCCCTGAG	0.721000													13	30					0	0	0.002450	0	0
CYP11B1	1584	broad.mit.edu	37	8	143961152	143961152	+	Silent	SNP	C	C	G	rs147788769		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:143961152C>G	ENST00000292427.4	-	1	110	c.78G>C	c.(76-78)acG>acC	p.T26T	CYP11B1_ENST00000517471.1_Silent_p.T26T|CYP11B1_ENST00000377675.3_Silent_p.T26T	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	26					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GGGCGGCTCTCGTGCCCAGTG	0.652000									Familial Hyperaldosteronism type I				20	77					0	0	0.008871	0	0
CAD	790	broad.mit.edu	37	2	27463930	27463930	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:27463930G>A	ENST00000264705.4	+	37	5805	c.5643G>A	c.(5641-5643)ctG>ctA	p.L1881L	CAD_ENST00000403525.1_Silent_p.L1818L	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1881	Linker.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CTGCAGAGCTGATGGGAACCC	0.622000													43	101					0	0	0.010771	0	0
KIAA0226	9711	broad.mit.edu	37	3	197427616	197427616	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:197427616C>G	ENST00000273582.5	-	7	1494	c.949G>C	c.(949-951)Gag>Cag	p.E317Q	KIAA0226_ENST00000389665.5_Missense_Mutation_p.E377Q|KIAA0226_ENST00000296343.5_Missense_Mutation_p.E377Q|KIAA0226_ENST00000449205.1_Missense_Mutation_p.E377Q	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	377	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		AGCTGGCTCTCCCCACCTCCT	0.577000													35	76					0	0	0.002836	0	0
ETS2	2114	broad.mit.edu	37	21	40191453	40191453	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:40191453G>A	ENST00000360214.3	+	9	1298	c.838G>A	c.(838-840)Gag>Aag	p.E280K	ETS2_ENST00000360938.3_Missense_Mutation_p.E280K	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	280					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				CGACTCCCCTGAGAACGGTGC	0.557000													46	34					0	0	0.003610	0	0
C1RL	51279	broad.mit.edu	37	12	7260991	7260991	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:7260991C>T	ENST00000266542.4	-	2	248	c.156G>A	c.(154-156)ctG>ctA	p.L52L	C1RL-AS1_ENST00000541775.1_RNA|C1RL_ENST00000545280.1_Intron|C1RL_ENST00000544702.1_Silent_p.L52L|C1RL_ENST00000545337.1_Silent_p.L52L|C1RL-AS1_ENST00000435921.2_RNA	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	52	CUB.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CGGGGGATGTCAGCTGCTGGG	0.632000													18	55					0	0	0.010504	0	0
AP2M1	1173	broad.mit.edu	37	3	183900581	183900581	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:183900581C>T	ENST00000382456.3	+	10	1406	c.1092C>T	c.(1090-1092)atC>atT	p.I364I	AP2M1_ENST00000439647.1_Silent_p.I364I|AP2M1_ENST00000411763.2_Silent_p.I391I|AP2M1_ENST00000292807.5_Silent_p.I366I|AP2M1_ENST00000461733.1_3'UTR|EIF2B5_ENST00000444495.1_Intron	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	366	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AATCGCAGATCAGCGCAGAGA	0.552000													17	93					0	0	0.004990	0	0
SYT14	255928	broad.mit.edu	37	1	210334211	210334211	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:210334211G>A	ENST00000537238.1	+	9	1769	c.1378G>A	c.(1378-1380)Gat>Aat	p.D460N	SYT14_ENST00000472886.1_Missense_Mutation_p.D498N|SYT14_ENST00000367015.1_Missense_Mutation_p.D460N|SYT14_ENST00000534859.1_Missense_Mutation_p.D524N|SYT14_ENST00000422431.1_Missense_Mutation_p.D562N|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367019.1_Missense_Mutation_p.D517N|SYT14_ENST00000399639.2_3'UTR	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	498	C2 2.					integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TCAGCTTTCTGATGTGACACT	0.418000													18	76					0	0	0.006122	0	0
MTG2	26164	broad.mit.edu	37	20	60775858	60775858	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:60775858G>C	ENST00000370823.3	+	7	964	c.946G>C	c.(946-948)Gag>Cag	p.E316Q	MTG2_ENST00000436421.2_Missense_Mutation_p.E158Q|MTG2_ENST00000536470.1_Missense_Mutation_p.E88Q	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2																		TTCTCAGCCTGAGCCGTGGAC	0.547000													63	215					0	0	0.003610	0	0
GSTA3	2940	broad.mit.edu	37	6	52767169	52767169	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:52767169C>T	ENST00000211122.3	-	4	312	c.247G>A	c.(247-249)Ggg>Agg	p.G83R	GSTA3_ENST00000370968.1_Missense_Mutation_p.G33R	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	83	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	ATGTCTTTCCCGTAGAGGTTG	0.448000													50	147					0	0	0.003610	0	0
C17orf62	79415	broad.mit.edu	37	17	80405459	80405459	+	Missense_Mutation	SNP	C	C	T	rs142773924		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:80405459C>T	ENST00000437807.2	-	4	441	c.124G>A	c.(124-126)Gga>Aga	p.G42R	C17orf62_ENST00000578919.1_Missense_Mutation_p.G42R|C17orf62_ENST00000583617.1_Missense_Mutation_p.G42R|C17orf62_ENST00000306645.5_Missense_Mutation_p.G42R|C17orf62_ENST00000434650.2_Intron|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000577732.1_Missense_Mutation_p.G42R|C17orf62_ENST00000578913.1_Missense_Mutation_p.G42R|C17orf62_ENST00000583359.1_5'UTR|C17orf62_ENST00000577436.1_Intron|C17orf62_ENST00000342572.8_Intron|C17orf62_ENST00000585064.1_Missense_Mutation_p.G42R|C17orf62_ENST00000585080.1_Missense_Mutation_p.G42R	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	42						integral to membrane	protein binding			breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCTTTACCTCCGCTGTAGTAG	0.542000													4	14					0	0	0.000602	0	0
GTF2E1	2960	broad.mit.edu	37	3	120499990	120499990	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:120499990G>C	ENST00000283875.5	+	5	1086	c.993G>C	c.(991-993)aaG>aaC	p.K331N		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	331					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		ACGAGAAAAAGACTTCCTCTG	0.547000													9	63					0	0	0.004482	0	0
RCOR1	23186	broad.mit.edu	37	14	103174893	103174893	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:103174893G>A	ENST00000262241.6	+	6	978	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	RCOR1_ENST00000570597.1_Missense_Mutation_p.R248Q	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	248	Interaction with HDAC1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CGCCATGCCCGGAAACAAAAA	0.463000													4	144					0	0	0.000602	0	0
BCAN	63827	broad.mit.edu	37	1	156621404	156621404	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:156621404C>T	ENST00000329117.4	+	7	1556	c.1220C>T	c.(1219-1221)tCc>tTc	p.S407F	BCAN_ENST00000361588.5_Missense_Mutation_p.S407F|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	407	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)					GCCATCTACTCCATCCCCATC	0.572000													9	90					0	0	0.008291	0	0
C15orf57	90416	broad.mit.edu	37	15	40849428	40849428	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:40849428C>G	ENST00000358005.3	-	3	661	c.388G>C	c.(388-390)Gat>Cat	p.D130H	C15orf57_ENST00000558750.1_Missense_Mutation_p.D139H|C15orf57_ENST00000558113.1_Missense_Mutation_p.D130H|RP11-111A22.1_ENST00000561460.1_RNA|C15orf57_ENST00000561011.1_Missense_Mutation_p.D130H|C15orf57_ENST00000560305.1_Missense_Mutation_p.D130H|C15orf57_ENST00000559911.1_Missense_Mutation_p.D130H|C15orf57_ENST00000558871.1_Missense_Mutation_p.D130H|C15orf57_ENST00000416810.2_Missense_Mutation_p.D130H	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	130										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						TCATCAGAATCAAGTCCATCC	0.438000													12	26					0	0	0.002450	0	0
ARID2	196528	broad.mit.edu	37	12	46231439	46231439	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:46231439G>A	ENST00000334344.6	+	10	1451	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.E278K|ARID2_ENST00000444670.1_Missense_Mutation_p.E56K	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	427					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CATGCTCACGGAAATGGGAGA	0.378000			"""N, S, F"""		hepatocellular carcinoma								18	39					0	0	0.006122	0	0
MIR518F	574472	broad.mit.edu	37	19	54203354	54203354	+	RNA	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:54203354G>C	ENST00000384973.1	+	0	86					NR_030194.1																						TACTCTTTGAGAAAAGCAACG	0.378000													13	59					0	0	0.001368	0	0
CDH10	1008	broad.mit.edu	37	5	24511615	24511615	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:24511615G>C	ENST00000264463.4	-	6	1330	c.823C>G	c.(823-825)Cat>Gat	p.H275D		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	275	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H275Y(1)		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)		ACTCGAAGATGAATAGTGTCT	0.418000										HNSCC(23;0.051)			7	28					0	0	0.001984	0	0
MYH7B	57644	broad.mit.edu	37	20	33567491	33567491	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:33567491C>T	ENST00000262873.7	+	5	444	c.352C>T	c.(352-354)Cag>Tag	p.Q118*		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	76	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGCCGAGCTGCAGCCCATGAA	0.647000													25	87					0	0	0.006320	0	0
NRAP	4892	broad.mit.edu	37	10	115368262	115368262	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr10:115368262G>A	ENST00000369358.4	-	32	3881	c.3637C>T	c.(3637-3639)Cgg>Tgg	p.R1213W	NRAP_ENST00000369360.3_Missense_Mutation_p.R1178W|NRAP_ENST00000360478.3_Missense_Mutation_p.R1170W|NRAP_ENST00000359988.3_Missense_Mutation_p.R1205W			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1205						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)		GGATGCTGCCGATATTTACTC	0.438000													60	116					0	0	0.003610	0	0
STAB2	55576	broad.mit.edu	37	12	104129353	104129353	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:104129353G>A	ENST00000388887.2	+	52	5749	c.5545G>A	c.(5545-5547)Gac>Aac	p.D1849N		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1849	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGCTGGCAGGGACATCGTGAG	0.507000													3	10					0	0	0.004672	0	0
TP53INP1	94241	broad.mit.edu	37	8	95942725	95942725	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:95942725C>T	ENST00000342697.4	-	4	1112	c.705G>A	c.(703-705)ccG>ccA	p.P235P	TP53INP1_ENST00000378776.4_Silent_p.P180P|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_3'UTR	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	235					apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					TGTACTGACGCGGGCAGGGCT	0.438000													53	115					0	0	0.003610	0	0
EPPK1	83481	broad.mit.edu	37	8	144943311	144943311	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:144943311C>T	ENST00000525985.1	-	2	4182	c.4111G>A	c.(4111-4113)Ggg>Agg	p.G1371R				P58107	EPIPL_HUMAN	epiplakin 1	1371						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGTGCACCCCGTGGACAGGG	0.637000													8	31					0	0	0.003080	0	0
PLCH2	9651	broad.mit.edu	37	1	2428128	2428128	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:2428128G>A	ENST00000449969.1	+	14	1998	c.1837G>A	c.(1837-1839)Gac>Aac	p.D613N	PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000419816.2_Missense_Mutation_p.D640N|PLCH2_ENST00000378486.3_Missense_Mutation_p.D640N|PLCH2_ENST00000378488.3_Missense_Mutation_p.D640N|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	640					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGCCACCCACGACATAGAGAT	0.682000													4	14					0	0	0.000602	0	0
SLC25A18	83733	broad.mit.edu	37	22	18072904	18072904	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:18072904G>A	ENST00000327451.5	+	11	1388	c.850G>A	c.(850-852)Gct>Act	p.A284T	SLC25A18_ENST00000399813.1_Missense_Mutation_p.A284T	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	284						integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	CATGAAAGGCGCTGGCTGCCG	0.527000													19	81					0	0	0.006122	0	0
HEXA	3073	broad.mit.edu	37	15	72643480	72643480	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:72643480C>A	ENST00000268097.5	-	6	1169	c.666G>T	c.(664-666)atG>atT	p.M222I	HEXA_ENST00000457859.2_Missense_Mutation_p.M30I|HEXA_ENST00000566304.1_Missense_Mutation_p.M233I|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Missense_Mutation_p.M222I|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000429918.2_Missense_Mutation_p.M49I	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	222					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						ATACCTTTCTCATGAGCTCTG	0.468000													10	38					7.03913e-09	7.48963e-09	0.001368	1	0
ARHGEF40	55701	broad.mit.edu	37	14	21556189	21556189	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:21556189C>A	ENST00000298694.4	+	22	4577	c.4450C>A	c.(4450-4452)Caa>Aaa	p.Q1484K	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.Q1436K			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1484					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CCCCAGCCTGCAACCCCCCCA	0.577000													19	79					1.45105e-14	1.57329e-14	0.006122	1	0
TBC1D20	128637	broad.mit.edu	37	20	428599	428599	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:428599C>A	ENST00000354200.4	-	2	337	c.190G>T	c.(190-192)Gag>Tag	p.E64*		NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	64	Rab-GAP TBC.				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				CGTCTGATCTCATCAGTCAGG	0.532000													13	47					6.31663e-08	6.67638e-08	0.003163	1	0
PLEC	5339	broad.mit.edu	37	8	144998102	144998102	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:144998102C>G	ENST00000322810.4	-	31	6575	c.6406G>C	c.(6406-6408)Gag>Cag	p.E2136Q	PLEC_ENST00000527096.1_Missense_Mutation_p.E2022Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E1999Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E2003Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E1967Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E2026Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E1999Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E1985Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E1977Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2136	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGTGCGGCCTCCTCCTCGGCC	0.746000													3	21					0	0	0.004672	0	0
ZBTB24	9841	broad.mit.edu	37	6	109788881	109788881	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:109788881G>A	ENST00000230122.3	-	6	1512	c.1345C>T	c.(1345-1347)Ctt>Ttt	p.L449F		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TGGGTCTGAAGAGAACTCTTT	0.373000													4	23					0	0	0.001168	0	0
SDC4	6385	broad.mit.edu	37	20	43964468	43964468	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:43964468G>A	ENST00000372733.3	-	2	192	c.153C>T	c.(151-153)ccC>ccT	p.P51P	SDC4_ENST00000537976.1_Intron	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	51						extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity	p.P51P(1)	SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				ATTCCTGCCCGGGCCCCACTA	0.582000			T	ROS1	NSCLC								31	47					0	0	0.012213	0	0
TTN	7273	broad.mit.edu	37	2	179398942	179398942	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:179398942C>T	ENST00000589042.1	-	358	102624	c.102400G>A	c.(102400-102402)Gaa>Aaa	p.E34134K	TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E32493K|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25069K|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25261K|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25194K|TTN_ENST00000342992.6_Missense_Mutation_p.E31566K|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592836.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32493	Ig-like 151.|Ser-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)			GGGCCAATTTCAATGGATGCC	0.443000													30	86					0	0	0.008361	0	0
NACA	4666	broad.mit.edu	37	12	57106659	57106659	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57106659C>G	ENST00000454682.1	-	8	6414	c.6133G>C	c.(6133-6135)Gaa>Caa	p.E2045Q	NACA_ENST00000356769.3_Missense_Mutation_p.E182Q|NACA_ENST00000546392.1_Missense_Mutation_p.E182Q|NACA_ENST00000550952.1_Missense_Mutation_p.E892Q|NACA_ENST00000552540.1_Missense_Mutation_p.E182Q|NACA_ENST00000393891.4_Missense_Mutation_p.E182Q|NACA_ENST00000548563.1_Missense_Mutation_p.E103Q	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	182					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						ATGACCAATTCAATGTCCTTA	0.403000			T	BCL6	NHL								10	91					0	0	0.010729	0	0
RALGDS	5900	broad.mit.edu	37	9	135982483	135982483	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:135982483C>T	ENST00000393160.3	-	7	1590	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	RALGDS_ENST00000372047.3_Missense_Mutation_p.E456K|RALGDS_ENST00000372062.3_Missense_Mutation_p.E439K|RALGDS_ENST00000542690.1_Missense_Mutation_p.E539K|RALGDS_ENST00000372050.3_Missense_Mutation_p.E468K|RALGDS_ENST00000393157.3_Missense_Mutation_p.E467K|RALGDS_ENST00000469972.1_5'UTR	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	468	Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CTGGCCACCTCGATCCAGTGC	0.622000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								12	57					0	0	0.010729	0	0
MYRF	745	broad.mit.edu	37	11	61548770	61548770	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:61548770C>T	ENST00000278836.5	+	21	2829	c.2733C>T	c.(2731-2733)agC>agT	p.S911S	MYRF_ENST00000265460.5_Silent_p.S876S|MYRF_ENST00000389602.4_Silent_p.S302S|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		atgttctcagcccaagtccca	0.607000													18	47					0	0	0.004990	0	0
MALAT1	378938	broad.mit.edu	37	11	65272832	65272832	+	RNA	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:65272832G>A	ENST00000534336.1	+	0	7600					NR_002819.2																						TGAAGCATCCGAAGGAATGCT	0.423000													5	30					0	0	0.000602	0	0
ZNF474	133923	broad.mit.edu	37	5	121488078	121488078	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:121488078G>C	ENST00000296600.4	+	2	776	c.393G>C	c.(391-393)ttG>ttC	p.L131F	ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	131						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		CCAAGCATTTGAGGAGGCCAG	0.517000													31	78					0	0	0.009535	0	0
CLASP1	23332	broad.mit.edu	37	2	122165228	122165228	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:122165228C>T	ENST00000263710.4	-	25	2877	c.2488G>A	c.(2488-2490)Gat>Aat	p.D830N	CLASP1_ENST00000545861.1_Missense_Mutation_p.D577N|CLASP1_ENST00000541859.1_Missense_Mutation_p.D563N|CLASP1_ENST00000409078.3_Missense_Mutation_p.D802N|CLASP1_ENST00000397587.3_Missense_Mutation_p.D810N|CLASP1_ENST00000541377.1_Missense_Mutation_p.D808N|CLASP1_ENST00000455322.2_Missense_Mutation_p.D802N	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	830					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTTGAGGCATCACTGTTGGCA	0.502000													38	115					0	0	0.004289	0	0
YTHDC2	64848	broad.mit.edu	37	5	112871369	112871369	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:112871369G>A	ENST00000161863.4	+	7	1189	c.976G>A	c.(976-978)Gat>Aat	p.D326N	YTHDC2_ENST00000515883.1_Missense_Mutation_p.D326N	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	326	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TCGATTTAGTGATTTTTTACT	0.303000													13	48					0	0	0.002450	0	0
RUSC1	23623	broad.mit.edu	37	1	155295461	155295461	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:155295461C>T	ENST00000368352.5	+	6	1963	c.1812C>T	c.(1810-1812)ctC>ctT	p.L604L	RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368354.3_Silent_p.L604L|RUSC1_ENST00000292254.4_Silent_p.L135L|RUSC1_ENST00000368349.4_Silent_p.L135L|RUSC1_ENST00000368347.4_Silent_p.L194L	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	604	RUN.					cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TGGGCCTCCTCAAGTGAGTTG	0.612000													9	15					0	0	0.004482	0	0
CPD	1362	broad.mit.edu	37	17	28789469	28789469	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:28789469C>G	ENST00000225719.4	+	20	3974	c.3898C>G	c.(3898-3900)Ctt>Gtt	p.L1300V	CPD_ENST00000543464.2_Missense_Mutation_p.L1053V	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1300					proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GCCAAGGGAGCTTGTGGTAAC	0.373000													20	49					0	0	0.010504	0	0
CNR1	1268	broad.mit.edu	37	6	88854153	88854153	+	Missense_Mutation	SNP	C	C	A	rs140051374		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:88854153C>A	ENST00000537554.1	-	2	4403	c.841G>T	c.(841-843)Ggg>Tgg	p.G281W	CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Missense_Mutation_p.G281W|CNR1_ENST00000549716.1_Missense_Mutation_p.G220W|CNR1_ENST00000369501.2_Missense_Mutation_p.G281W|CNR1_ENST00000468898.1_Missense_Mutation_p.G248W|CNR1_ENST00000369499.2_Missense_Mutation_p.G281W|CNR1_ENST00000549890.1_Missense_Mutation_p.G281W|CNR1_ENST00000535130.1_Missense_Mutation_p.G281W	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	281					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)	CTGGTGACCCCGATCCAGAAC	0.532000													4	74					0.00909568	0.00929367	0.009096	1	0
ARAP1	116985	broad.mit.edu	37	11	72409008	72409008	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:72409008G>A	ENST00000359373.5	-	19	3536	c.2685C>T	c.(2683-2685)ttC>ttT	p.F895F	ARAP1_ENST00000334211.8_Silent_p.F650F|ARAP1_ENST00000393609.3_Silent_p.F895F|ARAP1_ENST00000455638.2_Silent_p.F895F|ARAP1_ENST00000429686.1_Silent_p.F589F|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393605.3_Silent_p.F655F|ARAP1_ENST00000426523.1_Silent_p.F650F			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	895					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						GCCCCTCCGGGAAGACAGCAC	0.657000													3	21					0	0	0.000602	0	0
STARD13	90627	broad.mit.edu	37	13	33703293	33703293	+	Silent	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:33703293G>T	ENST00000336934.5	-	5	1637	c.1521C>A	c.(1519-1521)gtC>gtA	p.V507V	STARD13_ENST00000399365.3_Silent_p.V389V|STARD13_ENST00000255486.4_Silent_p.V499V	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	507					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GTTCAGGCAAGACATCTTTGG	0.448000													23	90					6.21321e-17	6.82e-17	0.002780	1	0
DNAH11	8701	broad.mit.edu	37	7	21621571	21621571	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:21621571G>C	ENST00000328843.6	+	9	1673	c.1642G>C	c.(1642-1644)Gac>Cac	p.D548H	DNAH11_ENST00000409508.3_Missense_Mutation_p.D548H			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	548	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCTGGAATTTGACAGAAGGCT	0.333000									Kartagener syndrome				3	92					0	0	0.004672	0	0
NOTUM	147111	broad.mit.edu	37	17	79916266	79916266	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:79916266G>A	ENST00000409678.3	-	5	920	c.537C>T	c.(535-537)ttC>ttT	p.F179F		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	179						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGTAGGGGATGAAGCTGCAAC	0.612000													11	44					0	0	0.001368	0	0
BSN	8927	broad.mit.edu	37	3	49702266	49702266	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:49702266C>T	ENST00000296452.4	+	10	11889	c.11775C>T	c.(11773-11775)ttC>ttT	p.F3925F		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3925				F -> L (in Ref. 1; AAC83555).	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)		TTTCCTCATTCTGGTGACCAT	0.557000													30	69					0	0	0.009535	0	0
PLEC	5339	broad.mit.edu	37	8	145007122	145007122	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:145007122G>A	ENST00000322810.4	-	14	2156	c.1987C>T	c.(1987-1989)Cag>Tag	p.Q663*	PLEC_ENST00000527096.1_Nonsense_Mutation_p.Q549*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.Q526*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.Q530*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.Q494*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.Q553*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.Q526*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.Q512*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.Q504*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	663	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCAGGTCCTGCAGGTAGCGC	0.697000													6	29					0	0	0.003080	0	0
FXR1	8087	broad.mit.edu	37	3	180685868	180685868	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:180685868G>A	ENST00000357559.4	+	14	1612	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	FXR1_ENST00000468861.1_Missense_Mutation_p.E325K|FXR1_ENST00000305586.7_Missense_Mutation_p.E325K|FXR1_ENST00000445140.2_Missense_Mutation_p.E410K|FXR1_ENST00000480918.1_Missense_Mutation_p.E397K|FXR1_ENST00000491062.1_Missense_Mutation_p.E361K	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	410					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)			TAACCCCTCTGAAACGGAATC	0.428000													24	161					0	0	0.003330	0	0
UPB1	51733	broad.mit.edu	37	22	24911253	24911253	+	Missense_Mutation	SNP	C	C	T	rs144135211		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:24911253C>T	ENST00000413389.2	+	6	2095	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	UPB1_ENST00000326010.5_Missense_Mutation_p.R236W			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	236	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					TTGCTACGGGCGGCACCACCC	0.562000													26	64					0	0	0.004656	0	0
ZNF70	7621	broad.mit.edu	37	22	24086776	24086776	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:24086776G>C	ENST00000341976.3	-	2	1012	c.552C>G	c.(550-552)ctC>ctG	p.L184L		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	184						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TCTGGTGCCTGAGCAGGTGGG	0.622000													13	48					0	0	0.001368	0	0
DLGAP4	22839	broad.mit.edu	37	20	35155390	35155390	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:35155390G>C	ENST00000373913.3	+	13	3406	c.2926G>C	c.(2926-2928)Gac>Cac	p.D976H	RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000401952.2_Missense_Mutation_p.D976H|DLGAP4_ENST00000475894.1_3'UTR|RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000339266.5_Missense_Mutation_p.D979H|DLGAP4_ENST00000373907.2_Missense_Mutation_p.D979H|DLGAP4_ENST00000340491.4_Missense_Mutation_p.D440H			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	979					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CGAGAGCGCAGACAGCATCGA	0.557000													10	50					0	0	0.008291	0	0
UPRT	139596	broad.mit.edu	37	X	74519710	74519710	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:74519710C>A	ENST00000373379.1	+	5	868	c.703C>A	c.(703-705)Ctt>Att	p.L235I	UPRT_ENST00000373383.4_Missense_Mutation_p.L235I|UPRT_ENST00000530743.1_Missense_Mutation_p.L99I			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	235					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						GAGAAAAGTCCTTCTGATGTA	0.413000													37	23					5.04308e-16	5.51285e-16	0.006230	1	0
STAMBP	10617	broad.mit.edu	37	2	74074516	74074516	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:74074516G>C	ENST00000394070.2	+	5	881	c.378G>C	c.(376-378)aaG>aaC	p.K126N	STAMBP_ENST00000409707.1_Missense_Mutation_p.K126N|STAMBP_ENST00000339566.3_Missense_Mutation_p.K126N|STAMBP_ENST00000394073.1_Missense_Mutation_p.K126N|STAMBP_ENST00000536064.1_Missense_Mutation_p.K126N	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	126	Glu-rich.|Interaction with CHMP3.				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						CTTTGTAGAAGAAGGAAGCAG	0.448000													8	29					0	0	0.004482	0	0
OR4D9	390199	broad.mit.edu	37	11	59283051	59283051	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:59283051G>C	ENST00000329328.3	+	1	666	c.666G>C	c.(664-666)ttG>ttC	p.L222F		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CGGTCATCTTGATGATGCTGA	0.498000													27	156					0	0	0.006320	0	0
TWIST1	7291	broad.mit.edu	37	7	19156446	19156446	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:19156446C>A	ENST00000242261.5	-	1	849	c.499G>T	c.(499-501)Gag>Tag	p.E167*		NM_000474.3	NP_000465.1	Q15672	TWST1_HUMAN	twist family bHLH transcription factor 1	167	Sufficient for transactivation activity (By similarity).				aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			lung(2)|upper_aerodigestive_tract(1)	3						GAGTCCAGCTCGTCGCTCTGG	0.617000													9	18					1.58986e-06	1.66498e-06	0.008291	1	0
FBXL13	222235	broad.mit.edu	37	7	102553560	102553560	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:102553560G>C	ENST00000393772.2	-	11	1407	c.981C>G	c.(979-981)atC>atG	p.I327M	FBXL13_ENST00000379305.3_Missense_Mutation_p.I327M|LRRC17_ENST00000249377.4_5'UTR|FBXL13_ENST00000379306.3_Missense_Mutation_p.I327M|FBXL13_ENST00000313221.4_Missense_Mutation_p.I327M|LRRC17_ENST00000339431.4_5'UTR|FBXL13_ENST00000436908.1_Missense_Mutation_p.I327M|FBXL13_ENST00000379308.3_Missense_Mutation_p.I327M|FBXL13_ENST00000456695.1_Missense_Mutation_p.I327M|FBXL13_ENST00000455112.2_Missense_Mutation_p.I327M			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	327										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GGTCCAGATAGATGAGCTTGT	0.488000													5	22					0	0	0.000602	0	0
TRIP11	9321	broad.mit.edu	37	14	92471470	92471470	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471470C>T	ENST00000267622.4	-	11	3223	c.2850G>A	c.(2848-2850)atG>atA	p.M950I		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	950					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GTGTGGCGTTCATTTGCTCAT	0.368000			T	PDGFRB	AML								15	113					0	0	0.007413	0	0
BACH2	60468	broad.mit.edu	37	6	90648025	90648025	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:90648025C>A	ENST00000257749.4	-	8	2588	c.1881G>T	c.(1879-1881)agG>agT	p.R627S	BACH2_ENST00000537989.1_Missense_Mutation_p.R627S|BACH2_ENST00000343122.3_Missense_Mutation_p.R627S	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	627						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GGAAATCGTTCCTTGGAAGAT	0.423000													18	43					3.51602e-12	3.80187e-12	0.008871	1	0
LIFR	3977	broad.mit.edu	37	5	38481936	38481936	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:38481936C>G	ENST00000263409.4	-	20	3217	c.3055G>C	c.(3055-3057)Gaa>Caa	p.E1019Q	LIFR_ENST00000453190.2_Missense_Mutation_p.E1019Q	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	1019					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AAGTCCTCTTCTGCAGCTATA	0.443000			T	PLAG1	salivary adenoma								20	99					0	0	0.008871	0	0
C19orf57	79173	broad.mit.edu	37	19	14000824	14000824	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:14000824G>C	ENST00000454313.1	-	6	903	c.845C>G	c.(844-846)tCa>tGa	p.S282*	C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000586783.1_Nonsense_Mutation_p.S282*|C19orf57_ENST00000346736.2_Nonsense_Mutation_p.S282*			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	282					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)			GGTAGGAGCTGATGCTGGGGT	0.711000													6	42					0	0	0.001168	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145771162	145771162	+	Missense_Mutation	SNP	C	C	G	rs149131924		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:145771162C>G	ENST00000276826.5	-	5	2193	c.1992G>C	c.(1990-1992)gaG>gaC	p.E664D	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E664D|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E664D			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	664					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCCGGCTGCTCTCGAACTGGG	0.677000													6	20					0	0	0.001168	0	0
FILIP1L	11259	broad.mit.edu	37	3	99649833	99649833	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:99649833G>A	ENST00000331335.5	-	2	502	c.32C>T	c.(31-33)tCa>tTa	p.S11L	CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.S11L|FILIP1L_ENST00000398326.2_Missense_Mutation_p.S11L	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	11						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CTTTTGGGCTGAGCCCTCGGT	0.433000													9	44					0	0	0.010729	0	0
PRPF40B	25766	broad.mit.edu	37	12	50035744	50035744	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:50035744C>T	ENST00000261897.1	+	18	2267	c.1716C>T	c.(1714-1716)gtC>gtT	p.V572V	PRPF40B_ENST00000380281.1_Silent_p.V585V|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Silent_p.V607V			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	585					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						TCGCCCACGTCATAAGCTTTG	0.597000													31	78					0	0	0.009535	0	0
WDHD1	11169	broad.mit.edu	37	14	55474026	55474026	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:55474026C>T	ENST00000360586.3	-	7	637	c.572G>A	c.(571-573)aGa>aAa	p.R191K	WDHD1_ENST00000420358.2_Missense_Mutation_p.R68K|WDHD1_ENST00000421192.1_Missense_Mutation_p.R68K	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	191						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CCAAGCAAGTCTGCAGATTGA	0.318000													6	26					0	0	0.003080	0	0
DCHS2	54798	broad.mit.edu	37	4	155278412	155278412	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:155278412C>G	ENST00000357232.3	-	6	758	c.759G>C	c.(757-759)atG>atC	p.M253I	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	253	Cadherin 2.				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)		ctaaactgttcattacttcct	0.443000													30	102					0	0	0.007291	0	0
TAF6	6878	broad.mit.edu	37	7	99710524	99710524	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:99710524C>T	ENST00000344095.4	-	6	996	c.471G>A	c.(469-471)caG>caA	p.Q157Q	TAF6_ENST00000472509.1_Silent_p.Q214Q|TAF6_ENST00000418432.2_Silent_p.Q81Q|TAF6_ENST00000453269.2_Silent_p.Q157Q|TAF6_ENST00000452041.1_Silent_p.Q157Q|TAF6_ENST00000437822.2_Silent_p.Q194Q	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	157					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Q157Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTCAGCCTTCTGTTGCTCTT	0.602000													77	187					0	0	0.003610	0	0
PLG	5340	broad.mit.edu	37	6	161134112	161134112	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:161134112G>C	ENST00000308192.9	+	5	565	c.502G>C	c.(502-504)Gat>Cat	p.D168H	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	168	Kringle 1.				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)	CTATACTACTGATCCAGAAAA	0.478000													24	143					0	0	0.005443	0	0
MCF2L2	23101	broad.mit.edu	37	3	182897459	182897459	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:182897459C>G	ENST00000328913.3	-	29	3424	c.3127G>C	c.(3127-3129)Gac>Cac	p.D1043H	MCF2L2_ENST00000473233.1_Missense_Mutation_p.D1043H	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	1043					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGACTGTCGTCCGACTGGAAA	0.587000													22	225					0	0	0.002780	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39716595	39716595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:39716595C>T	ENST00000553728.1	+	4	1030	c.817C>T	c.(817-819)Caa>Taa	p.Q273*	MIA2_ENST00000280082.3_Nonsense_Mutation_p.Q273*|MIA2_ENST00000556784.1_Nonsense_Mutation_p.Q272*																							TGGTGAGCCTCAAACAGAACA	0.393000													9	36					0	0	0.004482	0	0
GTSE1	51512	broad.mit.edu	37	22	46704811	46704811	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:46704811G>A	ENST00000454366.1	+	4	945	c.733G>A	c.(733-735)Gga>Aga	p.G245R		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	226					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CTCTGTTAGAGGAAGAAGCAT	0.612000													20	71					0	0	0.010504	0	0
XIRP1	165904	broad.mit.edu	37	3	39228635	39228635	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:39228635C>T	ENST00000340369.3	-	2	2530	c.2302G>A	c.(2302-2304)Gag>Aag	p.E768K	XIRP1_ENST00000396251.1_Missense_Mutation_p.E768K|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	768							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)		GCTGCAGTCTCCTGGCTCTCT	0.642000													11	28					0	0	0.010729	0	0
LGALS12	85329	broad.mit.edu	37	11	63283183	63283183	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:63283183G>A	ENST00000415491.2	+	7	1293	c.679G>A	c.(679-681)Gag>Aag	p.E227K	LGALS12_ENST00000340246.5_Missense_Mutation_p.E289K|LGALS12_ENST00000394618.3_Missense_Mutation_p.E288K|LGALS12_ENST00000425950.2_Missense_Mutation_p.E218K|LGALS12_ENST00000255684.5_Missense_Mutation_p.E279K	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	288	Galectin 2.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GAGATTCTTTGAGGTAGGTCA	0.557000													11	37					0	0	0.010729	0	0
NSD1	64324	broad.mit.edu	37	5	176562391	176562391	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:176562391C>G	ENST00000439151.2	+	2	332	c.287C>G	c.(286-288)tCc>tGc	p.S96C	NSD1_ENST00000511258.1_Intron|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.S96C	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	96					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)		GGATCAGAATCCTTTCAAGAC	0.438000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			12	47					0	0	0.010729	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48143273	48143273	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:48143273G>A	ENST00000405493.2	-	10	1024	c.815C>T	c.(814-816)gCt>gTt	p.A272V	RAPGEF3_ENST00000449771.2_Missense_Mutation_p.A314V|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.A314V|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.A314V|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.A272V|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.A272V|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.A272V	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	272					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		ATTCACCAGAGCCAGCTGTCC	0.612000													9	62					0	0	0.006214	0	0
COPB1	1315	broad.mit.edu	37	11	14486569	14486569	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:14486569C>T	ENST00000249923.3	-	18	2598	c.2298G>A	c.(2296-2298)ctG>ctA	p.L766L	COPB1_ENST00000439561.2_Silent_p.L766L	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	766					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						CCACAAGTTTCAGATCCCCTG	0.393000													10	18					0	0	0.006214	0	0
RPS27A	6233	broad.mit.edu	37	2	55460509	55460509	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:55460509C>G	ENST00000272317.6	+	3	383	c.59C>G	c.(58-60)tCg>tGg	p.S20W	RPS27A_ENST00000404735.1_Missense_Mutation_p.S20W|RPS27A_ENST00000402285.3_Missense_Mutation_p.S20W	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	20	Ubiquitin-like.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome			cervix(1)|ovary(1)|urinary_tract(1)	3						GTTGAACCCTCGGATACGATA	0.408000													4	30					0	0	0.000602	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110023720	110023720	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:110023720G>C	ENST00000453089.2	+	2	1638	c.757G>C	c.(757-759)Gac>Cac	p.D253H	ZC3H12C_ENST00000278590.3_Missense_Mutation_p.D284H|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.D285H			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	284							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		AGGCCACAAAGACATTACAGT	0.428000													3	7					0	0	0.004672	0	0
FKBP11	51303	broad.mit.edu	37	12	49315828	49315828	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:49315828C>G	ENST00000550765.1	-	6	943	c.545G>C	c.(544-546)aGa>aCa	p.R182T	FKBP11_ENST00000444214.2_Missense_Mutation_p.R80T|ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Intron|AC073610.5_ENST00000537495.1_3'UTR	NM_016594.2	NP_057678.1	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11, 19 kDa	182					protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(3)|lung(1)	5						GACTTTGGGTCTATTGGCCTT	0.408000													7	104					0	0	0.001984	0	0
SUPT16H	11198	broad.mit.edu	37	14	21827748	21827748	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:21827748C>G	ENST00000216297.2	-	19	2534	c.2196G>C	c.(2194-2196)aaG>aaC	p.K732N		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	732					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TGTGCCGCTTCTTCCCAAACA	0.463000													18	49					0	0	0.007413	0	0
BCKDK	10295	broad.mit.edu	37	16	31121725	31121725	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:31121725G>A	ENST00000394951.1	+	8	1170	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	BCKDK_ENST00000219794.6_Missense_Mutation_p.E183K|BCKDK_ENST00000394950.3_Missense_Mutation_p.E183K|BCKDK_ENST00000287507.3_Missense_Mutation_p.E183K			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	183	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						TTTACAGGATGAAAAGCTCGT	0.592000													20	59					0	0	0.007413	0	0
TUBA8	51807	broad.mit.edu	37	22	18604368	18604368	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:18604368G>C	ENST00000330423.3	+	2	199	c.126G>C	c.(124-126)aaG>aaC	p.K42N	TUBA8_ENST00000316027.6_5'UTR	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	42					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						AAGCTAGCAAGATCAACGATG	0.552000													12	53					0	0	0.010729	0	0
PAPSS1	9061	broad.mit.edu	37	4	108578142	108578142	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:108578142C>T	ENST00000265174.4	-	7	1077	c.805G>A	c.(805-807)Gtt>Att	p.V269I	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	269					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TCTGCCAAAACCTGCACCCAC	0.393000													11	74					0	0	0.008291	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57069957	57069957	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:57069957G>A	ENST00000532437.1	-	6	4970	c.4659C>T	c.(4657-4659)ccC>ccT	p.P1553P	TNKS1BP1_ENST00000358252.3_Silent_p.P1553P			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1553	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGTCCTGACTGGGGGATCTGG	0.637000													5	20					0	0	0.000602	0	0
KDM6B	23135	broad.mit.edu	37	17	7752328	7752328	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:7752328C>T	ENST00000254846.5	+	11	3111	c.2722C>T	c.(2722-2724)Cgc>Tgc	p.R908C	KDM6B_ENST00000448097.2_Missense_Mutation_p.R908C	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	908					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GCCCCCTGCTCGCTCTGAGTC	0.711000													6	11					0	0	0.001168	0	0
PLEC	5339	broad.mit.edu	37	8	144991749	144991749	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:144991749C>T	ENST00000322810.4	-	32	12820	c.12651G>A	c.(12649-12651)ctG>ctA	p.L4217L	PLEC_ENST00000527096.1_Silent_p.L4103L|PLEC_ENST00000345136.3_Silent_p.L4080L|PLEC_ENST00000357649.2_Silent_p.L4084L|PLEC_ENST00000398774.2_Silent_p.L4048L|PLEC_ENST00000436759.2_Silent_p.L4107L|PLEC_ENST00000354589.3_Silent_p.L4080L|PLEC_ENST00000356346.3_Silent_p.L4066L|PLEC_ENST00000354958.2_Silent_p.L4058L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4217	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGGGGTCGGTCAGGATCTCGT	0.617000													12	45					0	0	0.002450	0	0
SAAL1	113174	broad.mit.edu	37	11	18105261	18105261	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:18105261C>T	ENST00000524803.1	-	10	1109	c.1060G>A	c.(1060-1062)Gac>Aac	p.D354N	SAAL1_ENST00000300013.4_Missense_Mutation_p.D353N|SAAL1_ENST00000529318.1_Missense_Mutation_p.D356N			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	354					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						ATGAGGCTGTCAATTAGAGGA	0.363000													4	30					0	0	0.009096	0	0
AHDC1	27245	broad.mit.edu	37	1	27876393	27876393	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:27876393C>T	ENST00000374011.2	-	6	3202	c.2234G>A	c.(2233-2235)cGg>cAg	p.R745Q	AHDC1_ENST00000247087.5_Missense_Mutation_p.R745Q|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	745	Gly-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCCATTCTTCCGGGACCGTCT	0.677000													10	43					0	0	0.006214	0	0
GPR1	2825	broad.mit.edu	37	2	207041250	207041250	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:207041250G>C	ENST00000407325.2	-	3	1084	c.722C>G	c.(721-723)tCc>tGc	p.S241C	GPR1_ENST00000437420.1_Missense_Mutation_p.S241C	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	241						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)		ATGCCTACTGGAGATCAGGAT	0.443000													7	38					0	0	0.001984	0	0
YTHDC2	64848	broad.mit.edu	37	5	112868689	112868689	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:112868689G>C	ENST00000161863.4	+	5	1002	c.789G>C	c.(787-789)gaG>gaC	p.E263D	YTHDC2_ENST00000515883.1_Missense_Mutation_p.E263D	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	263	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TTGCCGCAGAGAGACGGGAAA	0.393000													19	56					0	0	0.007413	0	0
RTTN	25914	broad.mit.edu	37	18	67801735	67801735	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr18:67801735G>A	ENST00000255674.6	-	23	3214	c.2928C>T	c.(2926-2928)ttC>ttT	p.F976F	RTTN_ENST00000437017.1_Silent_p.F976F|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	976							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CAGGCAAACTGAAGACCGATG	0.323000													12	28					0	0	0.001368	0	0
SMG1	23049	broad.mit.edu	37	16	18865140	18865140	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:18865140G>C	ENST00000446231.2	-	31	4945	c.4533C>G	c.(4531-4533)ttC>ttG	p.F1511L	SMG1_ENST00000389467.3_Missense_Mutation_p.F1511L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1511	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CAGACTTGCAGAAAGATATGG	0.403000													11	24					0	0	0.001368	0	0
ATP13A3	79572	broad.mit.edu	37	3	194152469	194152469	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:194152469G>A	ENST00000439040.1	-	22	3189	c.2398C>T	c.(2398-2400)Cat>Tat	p.H800Y	ATP13A3_ENST00000256031.4_Missense_Mutation_p.H800Y			Q9H7F0	AT133_HUMAN	ATPase type 13A3	800					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GCTGATGGATGACTGCACTGC	0.388000													10	45					0	0	0.006214	0	0
PGAP3	93210	broad.mit.edu	37	17	37842184	37842184	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:37842184G>A	ENST00000300658.4	-	2	362	c.270C>T	c.(268-270)ttC>ttT	p.F90F	PGAP3_ENST00000429199.2_Silent_p.F90F|PGAP3_ENST00000378011.4_Silent_p.F90F|PGAP3_ENST00000579146.1_Silent_p.F90F	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	90					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						CCTTGCCATGGAACTGAGGCA	0.537000													6	32					0	0	0.003080	0	0
WNK4	65266	broad.mit.edu	37	17	40936541	40936541	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:40936541G>C	ENST00000246914.5	+	4	1135	c.1114G>C	c.(1114-1116)Gag>Cag	p.E372Q		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	372	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)		GGCCACCTCTGAGTACCCGTA	0.597000													6	36					0	0	0.001984	0	0
TRIP11	9321	broad.mit.edu	37	14	92469778	92469778	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92469778C>T	ENST00000267622.4	-	11	4915	c.4542G>A	c.(4540-4542)ttG>ttA	p.L1514L		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1514					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTTCTCTTTCAATAGCTGTT	0.378000			T	PDGFRB	AML								6	52					0	0	0.001984	0	0
DHX9	1660	broad.mit.edu	37	1	182853912	182853912	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:182853912C>T	ENST00000367549.3	+	27	3535	c.3425C>T	c.(3424-3426)tCa>tTa	p.S1142L	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1142					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TCTAGACCCTCAGCTGCTGGT	0.448000													29	63					0	0	0.010818	0	0
CAPG	822	broad.mit.edu	37	2	85628369	85628369	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:85628369C>A	ENST00000263867.4	-	5	684	c.435G>T	c.(433-435)aaG>aaT	p.K145N	CAPG_ENST00000483659.1_5'UTR|CAPG_ENST00000409724.1_Missense_Mutation_p.K145N|CAPG_ENST00000409921.1_Missense_Mutation_p.K145N|CAPG_ENST00000409670.1_Missense_Mutation_p.K145N	NM_001256140.1|NM_001747.3	NP_001243069.1|NP_001738.2	P40121	CAPG_HUMAN	capping protein (actin filament), gelsolin-like	145					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						GGATGTTCTTCTTCCCCTTCA	0.602000													34	95					2.75727e-19	3.03072e-19	0.004878	1	0
OSGEPL1	64172	broad.mit.edu	37	2	190626240	190626240	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:190626240C>G	ENST00000519810.1	-	3	469	c.127G>C	c.(127-129)Gaa>Caa	p.E43Q	OSGEPL1_ENST00000264151.5_Missense_Mutation_p.E43Q|OSGEPL1_ENST00000522700.1_Missense_Mutation_p.E43Q			Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	43					proteolysis|tRNA processing		metalloendopeptidase activity			large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			CAACTAGTTTCAATTCCCAAT	0.313000													10	78					0	0	0.008291	0	0
KLB	152831	broad.mit.edu	37	4	39448239	39448239	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:39448239G>A	ENST00000257408.4	+	4	1990	c.1893G>A	c.(1891-1893)ctG>ctA	p.L631L		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	631	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GTGAGGGGCTGAAGCTTGGCA	0.627000													27	54					0	0	0.004656	0	0
SLC22A4	6583	broad.mit.edu	37	5	131671648	131671648	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:131671648G>T	ENST00000200652.3	+	8	1573	c.1399G>T	c.(1399-1401)Gcc>Tcc	p.A467S	AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	467					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CACATCCACGGCCTCCAGAGT	0.483000													15	134					1.99824e-07	2.10646e-07	0.004990	1	0
NPC1L1	29881	broad.mit.edu	37	7	44578910	44578910	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:44578910C>T	ENST00000289547.4	-	2	1141	c.1086G>A	c.(1084-1086)ccG>ccA	p.P362P	NPC1L1_ENST00000546276.1_Silent_p.P362P|NPC1L1_ENST00000423141.1_Silent_p.P362P|NPC1L1_ENST00000381160.3_Silent_p.P362P	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	362					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGGCCACCACCGGGATGACAG	0.622000													34	101					0	0	0.002836	0	0
MAN2A2	4122	broad.mit.edu	37	15	91448544	91448544	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:91448544G>T	ENST00000360468.3	+	2	214	c.196G>T	c.(196-198)Gag>Tag	p.E66*	MAN2A2_ENST00000559717.1_Nonsense_Mutation_p.E66*	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	66					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGAGAACCATGAGATTATCAG	0.547000													25	83					1.55469e-16	1.70418e-16	0.003330	1	0
NBPF10	100132406	broad.mit.edu	37	1	145368591	145368591	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:145368591C>T	ENST00000342960.5	+	84	10604	c.10569C>T	c.(10567-10569)atC>atT	p.I3523I	NBPF10_ENST00000369338.1_Silent_p.I639I|NBPF10_ENST00000369339.2_Silent_p.I641I	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3523										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AACAGCACATCAGCTTCGCCC	0.448000													67	511					0	0	0.003610	0	0
NACA	4666	broad.mit.edu	37	12	57112180	57112180	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57112180C>T	ENST00000454682.1	-	3	3415	c.3134G>A	c.(3133-3135)gGa>gAa	p.G1045E	NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGCTGGACTTCCTTTGGGGGA	0.632000			T	BCL6	NHL								31	40					0	0	0.012213	0	0
CELF6	60677	broad.mit.edu	37	15	72582528	72582528	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:72582528G>A	ENST00000287202.5	-	4	717	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000569311.1_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000539635.1_Nonsense_Mutation_p.Q16*|CELF6_ENST00000543764.2_Nonsense_Mutation_p.Q40*|CELF6_ENST00000567083.1_Nonsense_Mutation_p.Q155*|CELF6_ENST00000395258.2_Nonsense_Mutation_p.Q42*	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	155	RRM 2.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CCAAAGGGCTGGAACAGGCGT	0.617000													12	27					0	0	0.001368	0	0
CCL2	6347	broad.mit.edu	37	17	32583786	32583786	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:32583786G>C	ENST00000225831.4	+	3	305	c.240G>C	c.(238-240)caG>caC	p.Q80H	CCL2_ENST00000580907.1_3'UTR	NM_002982.3	NP_002973.1	P13500	CCL2_HUMAN	chemokine (C-C motif) ligand 2	80					angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity			kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)	ACCCCAAGCAGAAGTGGGTTC	0.488000													20	38					0	0	0.008871	0	0
AHSG	197	broad.mit.edu	37	3	186338532	186338532	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:186338532G>C	ENST00000411641.2	+	7	1136	c.917G>C	c.(916-918)gGa>gCa	p.G306A	AHSG_ENST00000273784.5_Missense_Mutation_p.G307A			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	306					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GCTCCTCCAGGACACCAGTTG	0.632000													105	167					0	0	0.003610	0	0
SLC41A1	254428	broad.mit.edu	37	1	205779420	205779420	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:205779420C>G	ENST00000367137.3	-	2	1164	c.150G>C	c.(148-150)gtG>gtC	p.V50V		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	50						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GAGACTCAATCACCACCTCTA	0.642000											OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	76					0	0	0.004482	0	0
FOXD4	2298	broad.mit.edu	37	9	117879	117879	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:117879C>G	ENST00000382500.2	-	1	538	c.241G>C	c.(241-243)Gag>Cag	p.E81Q		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	81					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			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GTGCCAAACTCTGAGGGGTCG	0.711000													14	246					0	0	0.006122	0	0
KIAA0556	23247	broad.mit.edu	37	16	27789012	27789012	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:27789012G>C	ENST00000261588.4	+	26	4652	c.4633G>C	c.(4633-4635)Gag>Cag	p.E1545Q		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1545										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GCCCACATGTGAGCCCACCGT	0.647000													26	93					0	0	0.005443	0	0
MUC16	94025	broad.mit.edu	37	19	9047213	9047213	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:9047213G>A	ENST00000397910.4	-	5	34621	c.34418C>T	c.(34417-34419)aCa>aTa	p.T11473I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11475	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						TGGGAAAGTTGTAGTGCTGTC	0.507000													30	57					0	0	0.009535	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374262	95374262	+	RNA	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:95374262C>T	ENST00000494840.1	-	0	1599					NR_077228.1																						TTTTGACCTTCCAGTCACAAC	0.463000													6	64					0	0	0.003080	0	0
DNAH11	8701	broad.mit.edu	37	7	21639530	21639530	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:21639530G>A	ENST00000328843.6	+	15	2824	c.2793G>A	c.(2791-2793)ctG>ctA	p.L931L	DNAH11_ENST00000409508.3_Silent_p.L931L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	931	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACTTCTTTCTGAAGAATACAG	0.403000									Kartagener syndrome				13	16					0	0	0.001855	0	0
FLG	2312	broad.mit.edu	37	1	152282333	152282333	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:152282333G>C	ENST00000368799.1	-	3	5064	c.5029C>G	c.(5029-5031)Cca>Gca	p.P1677A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1677	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)			CTTTCTCCTGGACTTGACCTT	0.567000									Ichthyosis				129	468					0	0	0.003610	0	0
OR2W3	343171	broad.mit.edu	37	1	248059216	248059216	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:248059216G>C	ENST00000537741.1	+	3	585	c.328G>C	c.(328-330)Gtg>Ctg	p.V110L	OR2W3_ENST00000360358.3_Missense_Mutation_p.V110L			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCTGGGTGGTGTGGAGTGCCT	0.577000													23	60					0	0	0.002299	0	0
TRIP11	9321	broad.mit.edu	37	14	92471478	92471478	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471478C>T	ENST00000267622.4	-	11	3215	c.2842G>A	c.(2842-2844)Gag>Aag	p.E948K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	948					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTCATTTGCTCATGCTGGTAT	0.363000			T	PDGFRB	AML								15	106					0	0	0.008871	0	0
PHF12	57649	broad.mit.edu	37	17	27244465	27244465	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:27244465C>G	ENST00000577226.1	-	7	1318	c.972G>C	c.(970-972)ctG>ctC	p.L324L	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000332830.4_Silent_p.L324L|PHF12_ENST00000268756.3_Silent_p.L324L			Q96QT6	PHF12_HUMAN	PHD finger protein 12	324	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TCTTCTGGTTCAGCTAGGGAC	0.493000													11	47					0	0	0.008291	0	0
GALNT16	57452	broad.mit.edu	37	14	69805378	69805378	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:69805378C>G	ENST00000337827.4	+	10	1305	c.978C>G	c.(976-978)ttC>ttG	p.F326L	GALNT16_ENST00000553669.1_Missense_Mutation_p.F326L|GALNT16_ENST00000448469.3_Missense_Mutation_p.F326L	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		AGCTCTCCTTCAGGGTGTGGA	0.592000													11	92					0	0	0.008291	0	0
IGF2R	3482	broad.mit.edu	37	6	160484469	160484469	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:160484469C>G	ENST00000356956.1	+	27	3841	c.3693C>G	c.(3691-3693)gaC>gaG	p.D1231E		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1231					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AGGTGAAAGACCCAAGGCATG	0.493000													13	74					0	0	0.001855	0	0
ADSL	158	broad.mit.edu	37	22	40745953	40745953	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:40745953C>G	ENST00000216194.7	+	2	327	c.271C>G	c.(271-273)Cac>Gac	p.H91D	ADSL_ENST00000454266.2_Missense_Mutation_p.H91D|ADSL_ENST00000342312.6_Missense_Mutation_p.H91D	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	91					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						TGTGATGGCTCACGTGCACAC	0.468000													4	74					0	0	0.009096	0	0
NSUN7	79730	broad.mit.edu	37	4	40752778	40752778	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:40752778C>A	ENST00000381782.2	+	2	563	c.68C>A	c.(67-69)aCt>aAt	p.T23N	NSUN7_ENST00000316607.5_Missense_Mutation_p.T23N	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						TCCCAACTCACTTCCCTGCCT	0.547000													29	70					2.65835e-16	2.90996e-16	0.007291	1	0
SPON1	10418	broad.mit.edu	37	11	14280917	14280917	+	RNA	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:14280917G>A	ENST00000310358.7	+	0	2119							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		AGAGGTATGTGAAGCAGTTCC	0.652000													3	13					0	0	0.004672	0	0
BEST3	144453	broad.mit.edu	37	12	70049339	70049339	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:70049339T>A	ENST00000330891.5	-	10	1581	c.1355A>T	c.(1354-1356)aAa>aTa	p.K452I	BEST3_ENST00000553096.1_Missense_Mutation_p.K346I|BEST3_ENST00000488961.1_Missense_Mutation_p.K239I|BEST3_ENST00000331471.4_Intron	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	452						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GAAGCAGGATTTCTTCCAGGT	0.592000													5	108					0	0	0.000602	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5306808	5306808	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:5306808G>A	ENST00000274181.7	+	21	3516	c.3378G>A	c.(3376-3378)tcG>tcA	p.S1126S		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1126					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CGGGACCCTCGAGGGGCAGCT	0.672000													4	34					0	0	0.009096	0	0
STK11	6794	broad.mit.edu	37	19	1220487	1220487	+	Missense_Mutation	SNP	G	G	A	rs121913315		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:1220487G>A	ENST00000326873.7	+	4	1753	c.580G>A	c.(580-582)Gac>Aac	p.D194N		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	194	Protein kinase.		D -> N (in PJS).|D -> V (in lung cancer; somatic mutation).|D -> Y (in melanoma; sporadic malignant; somatic mutation).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.D194Y(6)|p.Y156fs*87(4)|p.?(3)|p.D194N(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAAATCTCCGACCTGGGCGT	0.677000	D194N(ALEXANDERCELLS_LIVER)|D194N(PLCPRF5_LIVER)	14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			4	6					0	0	0.001168	0	0
BBS4	585	broad.mit.edu	37	15	73002044	73002044	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:73002044C>T	ENST00000268057.4	+	3	121	c.80C>T	c.(79-81)cCa>cTa	p.P27L	BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000395205.2_Missense_Mutation_p.P35L|BBS4_ENST00000539603.1_Missense_Mutation_p.P15L	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	27	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						TGCCTAGCTCCAGAGTTTCCT	0.358000									Bardet-Biedl syndrome				25	90					0	0	0.006320	0	0
SSBP4	170463	broad.mit.edu	37	19	18543509	18543509	+	Splice_Site	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:18543509G>C	ENST00000270061.6	+	12	970		c.e12-1		SSBP4_ENST00000348495.5_Splice_Site	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4							nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						CTTGTCCCCAGATCCCCTACT	0.647000													11	22					0	0	0.008291	0	0
RIMKLA	284716	broad.mit.edu	37	1	42880305	42880305	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:42880305G>C	ENST00000431473.3	+	5	965	c.836G>C	c.(835-837)gGc>gCc	p.G279A		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	279	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GCTAATGTTGGCTTCCTAGCC	0.483000													23	270					0	0	0.002299	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73280574	73280574	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:73280574C>G	ENST00000286657.4	-	4	655	c.619G>C	c.(619-621)Gaa>Caa	p.E207Q		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	207					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.E207Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGAGCCTGTTCTACAGCTGAT	0.363000													21	52					0	0	0.012319	0	0
SATB2	23314	broad.mit.edu	37	2	200173562	200173562	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:200173562A>G	ENST00000443023.1	-	9	2949	c.1484T>C	c.(1483-1485)gTc>gCc	p.V495A	SATB2_ENST00000260926.5_Missense_Mutation_p.V554A|SATB2_ENST00000417098.1_Missense_Mutation_p.V554A|SATB2_ENST00000428695.1_Missense_Mutation_p.V436A|SATB2_ENST00000457245.1_Missense_Mutation_p.V554A			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	554						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTCATAGATGACATCCCTCTC	0.597000													21	76					0	0	0.002780	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34107680	34107680	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:34107680C>G	ENST00000341394.4	+	10	1225	c.1036C>G	c.(1036-1038)Cca>Gca	p.P346A	CAPRIN1_ENST00000532820.1_Missense_Mutation_p.P346A|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.P346A|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.P265A|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.P346A	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	346					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				CTCTTTGACTCCAGTGGCTCA	0.458000													5	48					0	0	0.000602	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94337703	94337703	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:94337703C>T	ENST00000436063.2	-	5	2049	c.1992G>A	c.(1990-1992)ctG>ctA	p.L664L		NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CTCTCATCTTCAGTGCTTTGA	0.403000													72	151					0	0	0.003610	0	0
PRKAG3	53632	broad.mit.edu	37	2	219695504	219695504	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:219695504G>A	ENST00000439262.2	-	3	214	c.119C>T	c.(118-120)tCg>tTg	p.S40L	PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000392098.3_Missense_Mutation_p.S65L|PRKAG3_ENST00000529249.1_Missense_Mutation_p.S65L	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	65					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCCTCCACCGACTTCTGCCT	0.607000													28	61					0	0	0.010818	0	0
SELT	51714	broad.mit.edu	37	3	150321201	150321201	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:150321201G>C	ENST00000471696.1	+	1	127	c.52G>C	c.(52-54)Gag>Cag	p.E18Q	SELT_ENST00000477889.1_5'UTR|SELT_ENST00000480740.1_Intron|SELT_ENST00000485923.1_5'UTR	NM_016275.3	NP_057359.2	P62341	SELT_HUMAN		18				RSE -> WSD (in Ref. 4; AAH09611).	cell redox homeostasis|selenocysteine incorporation		selenium binding							LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGTCCGGAGCGAGGCCTCGGC	0.602000													7	29					0	0	0.001984	0	0
DYM	54808	broad.mit.edu	37	18	46906126	46906126	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr18:46906126C>A	ENST00000269445.6	-	4	653	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	DYM_ENST00000442713.2_Intron	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	66				E -> K (in Ref. 2; BAC11088).		Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GGATTGTTTTCAACTGCAAGA	0.303000													15	42					2.31682e-05	2.40732e-05	0.003163	1	0
PRUNE2	158471	broad.mit.edu	37	9	79244121	79244121	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:79244121C>T	ENST00000428286.1	-	16	9262	c.8062G>A	c.(8062-8064)Gag>Aag	p.E2688K	PRUNE2_ENST00000466266.2_Intron|PRUNE2_ENST00000376718.3_Missense_Mutation_p.E3046K|PRUNE2_ENST00000443509.2_Missense_Mutation_p.E295K|PRUNE2_ENST00000223609.6_Missense_Mutation_p.E311K			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	3046					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATGATGCTCTCTGGAATGTGG	0.388000													4	14					0	0	0.009096	0	0
CMSS1	84319	broad.mit.edu	37	3	99881149	99881149	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:99881149G>A	ENST00000421999.2	+	4	374	c.228G>A	c.(226-228)aaG>aaA	p.K76K	CMSS1_ENST00000489081.1_Silent_p.K58K	NM_032359.3	NP_115735.2			cms1 ribosomal small subunit homolog (yeast)																		TATCTTAGAAGAAAATTACTG	0.383000													6	51					0	0	0.001168	0	0
KRT5	3852	broad.mit.edu	37	12	52910942	52910942	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:52910942C>G	ENST00000252242.4	-	6	1557	c.1167G>C	c.(1165-1167)atG>atC	p.M389I		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	389	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCATCCGGTTCATCTCAGAGA	0.522000													26	99					0	0	0.003954	0	0
SZT2	23334	broad.mit.edu	37	1	43907767	43907767	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:43907767G>A	ENST00000562955.1	+	55	7668	c.7668G>A	c.(7666-7668)agG>agA	p.R2556R	SZT2_ENST00000372442.1_Silent_p.R1714R	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2613						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTCTGGGAAGGAACTTCTTGC	0.642000													4	46					0	0	0.009096	0	0
C2orf57	165100	broad.mit.edu	37	2	232458485	232458485	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:232458485T>C	ENST00000313965.2	+	1	911	c.823T>C	c.(823-825)Tcc>Ccc	p.S275P		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	275										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CTACATGCGCTCCATGACCAG	0.662000													3	88					0	0	0.004672	0	0
NR1I3	9970	broad.mit.edu	37	1	161199674	161199674	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:161199674C>G	ENST00000367983.4	-	9	1254	c.960G>C	c.(958-960)cgG>cgC	p.R320R	NR1I3_ENST00000504010.1_Silent_p.R252R|NR1I3_ENST00000428574.2_Intron|TOMM40L_ENST00000367987.1_3'UTR|NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000367981.3_Silent_p.R296R|NR1I3_ENST00000367982.4_Silent_p.R324R|TOMM40L_ENST00000474486.1_3'UTR|NR1I3_ENST00000502985.1_3'UTR|NR1I3_ENST00000367979.2_Silent_p.R329R|NR1I3_ENST00000511676.1_Silent_p.R291R|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000367985.3_Silent_p.R286R|NR1I3_ENST00000515621.1_Silent_p.R245R|NR1I3_ENST00000367984.4_Silent_p.R281R|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000442691.2_Intron|NR1I3_ENST00000479324.1_5'UTR|NR1I3_ENST00000511748.1_Intron|TOMM40L_ENST00000367988.3_3'UTR|NR1I3_ENST00000508740.1_Intron|NR1I3_ENST00000508387.1_3'UTR|NR1I3_ENST00000367980.2_Silent_p.R329R|NR1I3_ENST00000505005.1_Intron			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	324					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CATTAATGCTCCGGAGCTCAG	0.557000													15	44					0	0	0.003163	0	0
MUC4	4585	broad.mit.edu	37	3	195515905	195515905	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:195515905G>A	ENST00000463781.3	-	2	3005	c.2546C>T	c.(2545-2547)tCc>tTc	p.S849F	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S849F	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	854	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGCTGAGGCGGACAGCAATTC	0.557000													13	109					0	0	0.002450	0	0
OSR2	116039	broad.mit.edu	37	8	99963753	99963753	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:99963753C>G	ENST00000297565.4	+	4	1259	c.763C>G	c.(763-765)Cca>Gca	p.P255A	OSR2_ENST00000457907.2_Missense_Mutation_p.P376A|OSR2_ENST00000522510.1_Missense_Mutation_p.P255A|OSR2_ENST00000435298.2_Intron	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	255					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			ACAGGAATCTCCACACAAATG	0.428000													3	7					0	0	0.004672	0	0
EIF4G2	1982	broad.mit.edu	37	11	10828424	10828424	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:10828424G>C	ENST00000526148.1	-	3	560	c.50C>G	c.(49-51)tCg>tGg	p.S17W	EIF4G2_ENST00000525995.1_5'UTR|EIF4G2_ENST00000525681.1_Missense_Mutation_p.S17W|EIF4G2_ENST00000396525.2_Missense_Mutation_p.S17W|EIF4G2_ENST00000339995.5_Missense_Mutation_p.S17W	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	17					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)		TCCTCCGCCCGAAGAAGCACT	0.388000													27	94					0	0	0.005443	0	0
ZNF784	147808	broad.mit.edu	37	19	56133815	56133815	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:56133815C>T	ENST00000325351.4	-	2	313	c.274G>A	c.(274-276)Gag>Aag	p.E92K	ZNF784_ENST00000591479.1_3'UTR	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CCGCCTCCCTCGGCCCCAGCC	0.711000													5	18					0	0	0.001168	0	0
GPR160	26996	broad.mit.edu	37	3	169802027	169802027	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:169802027C>T	ENST00000355897.5	+	4	875	c.267C>T	c.(265-267)ttC>ttT	p.F89F		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	89						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GCATTAGGTTCACTAAATACC	0.303000													8	82					0	0	0.003080	0	0
SLC6A7	6534	broad.mit.edu	37	5	149576346	149576346	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:149576346C>G	ENST00000230671.2	+	3	656	c.285C>G	c.(283-285)ctC>ctG	p.L95L	SLC6A7_ENST00000524041.1_Silent_p.L95L	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	95						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)	TCCTGGAGCTCTCCCTGGGCC	0.642000													39	115					0	0	0.007835	0	0
MUC16	94025	broad.mit.edu	37	19	9000195	9000195	+	Missense_Mutation	SNP	T	T	C	rs150399289	by1000genomes	TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:9000195T>C	ENST00000397910.4	-	55	40765	c.40562A>G	c.(40561-40563)aAc>aGc	p.N13521S	MUC16_ENST00000380951.5_Missense_Mutation_p.N162S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13523	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						AACACTGGTGTTCTTGAACAC	0.567000													30	39					0	0	0.009535	0	0
LTBP4	8425	broad.mit.edu	37	19	41125251	41125251	+	Splice_Site	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:41125251G>A	ENST00000308370.7	+	26	3268		c.e26-1		LTBP4_ENST00000204005.9_Splice_Site|LTBP4_ENST00000396819.3_Splice_Site|LTBP4_ENST00000243562.9_Splice_Site|LTBP4_ENST00000602240.1_Splice_Site|LTBP4_ENST00000545697.1_Splice_Site	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4						growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTGCTTACAGATGTGAACGA	0.468000													38	104					0	0	0.006999	0	0
SCN2A	6326	broad.mit.edu	37	2	166210745	166210745	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:166210745C>T	ENST00000357398.3	+	17	3253	c.2963C>T	c.(2962-2964)tCt>tTt	p.S988F	SCN2A_ENST00000283256.6_Missense_Mutation_p.S988F|SCN2A_ENST00000375427.2_Missense_Mutation_p.S988F|SCN2A_ENST00000375437.2_Missense_Mutation_p.S988F			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	988					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)	TCCTTCAGTTCTGACAATCTT	0.383000													40	171					0	0	0.011902	0	0
LAT	27040	broad.mit.edu	37	16	28997455	28997455	+	Splice_Site	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:28997455G>C	ENST00000395456.2	+	4	485		c.e4-1		LAT_ENST00000563964.1_Intron|LAT_ENST00000454369.2_Splice_Site|LAT_ENST00000395461.3_Splice_Site|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000566177.1_Splice_Site|LAT_ENST00000354453.4_Splice_Site|LAT_ENST00000564277.1_Splice_Site|LAT_ENST00000360872.5_Splice_Site	NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN	linker for activation of T cells						calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				TGTGTCCTCAGACACGGTTGC	0.612000													36	83					0	0	0.006230	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681334	44681334	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:44681334C>T	ENST00000381176.4	-	4	705	c.573G>A	c.(571-573)ctG>ctA	p.L191L		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	191						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				GGAAGGTCATCAGCGGTGGGC	0.607000													19	72					0	0	0.012319	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1																						CTCTCTCCTGTGGGAGGGGGG	0.632000													3	21					0	0	0.001168	0	0
ALG11	440138	broad.mit.edu	37	13	52593181	52593181	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:52593181G>A	ENST00000521508.1	+	2	182	c.177G>A	c.(175-177)ggG>ggA	p.G59G	ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		GCAAAAATGGGAAAAATCAAA	0.388000													16	39					0	0	0.003163	0	0
G6PD	2539	broad.mit.edu	37	X	153760233	153760233	+	Silent	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:153760233C>A	ENST00000393562.2	-	13	2003	c.1620G>T	c.(1618-1620)gtG>gtT	p.V540V	G6PD_ENST00000393564.2_Silent_p.V510V|G6PD_ENST00000369620.2_Silent_p.V556V	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	510					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGTGGGGGTTCACCCACTTGT	0.677000													7	9					8.12818e-05	8.40193e-05	0.001984	1	0
ZNF383	163087	broad.mit.edu	37	19	37726940	37726940	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:37726940A>G	ENST00000589413.1	+	7	779	c.196A>G	c.(196-198)Atg>Gtg	p.M66V	ZNF383_ENST00000590503.1_Missense_Mutation_p.M66V|ZNF383_ENST00000352998.3_Missense_Mutation_p.M66V			Q8NA42	ZN383_HUMAN	zinc finger protein 383	66	KRAB.				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)			AGAGCCCTGGATGGTTGGCAG	0.498000													26	71					0	0	0.007291	0	0
GDPD3	79153	broad.mit.edu	37	16	30116264	30116264	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:30116264C>T	ENST00000406256.3	-	10	1263	c.886G>A	c.(886-888)Gtc>Atc	p.V296I		NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	296	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						TCCGTTATGACGCCAGTGGCT	0.567000													15	43					0	0	0.003163	0	0
MAP1A	4130	broad.mit.edu	37	15	43815940	43815940	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:43815940G>A	ENST00000382031.1	+	5	3014	c.2983G>A	c.(2983-2985)Gat>Aat	p.D995N	MAP1A_ENST00000300231.5_Missense_Mutation_p.D757N|MAP1A_ENST00000399453.1_Missense_Mutation_p.D757N			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	757						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)	GGAGATCCATGATGAGCCGGA	0.562000													11	16					0	0	0.008291	0	0
AKAP13	11214	broad.mit.edu	37	15	86118486	86118486	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:86118486C>G	ENST00000394518.2	+	6	882	c.787C>G	c.(787-789)Cat>Gat	p.H263D	AKAP13_ENST00000361243.2_Missense_Mutation_p.H263D	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	263					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGATTCACATCATGAACACCC	0.393000													33	91					0	0	0.003271	0	0
GRAMD2	196996	broad.mit.edu	37	15	72460095	72460095	+	Silent	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:72460095G>T	ENST00000309731.7	-	5	367	c.354C>A	c.(352-354)ctC>ctA	p.L118L		NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	118	GRAM.					integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						CCTTGCCAAAGAGGCTGGCAT	0.597000													16	63					6.94344e-10	7.42744e-10	0.006122	1	0
MALAT1	378938	broad.mit.edu	37	11	65271805	65271805	+	RNA	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:65271805G>C	ENST00000534336.1	+	0	6573					NR_002819.2																						AGACTTCACAGAGAATGCAGT	0.413000													6	21					0	0	0.001168	0	0
SOD1	6647	broad.mit.edu	37	21	33031995	33031995	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:33031995G>A	ENST00000270142.6	+	0	61				SOD1_ENST00000389995.4_De_novo_Start_InFrame	NM_000454.4	NP_000445.1	P00441	SODC_HUMAN	superoxide dismutase 1, soluble						activation of MAPK activity|auditory receptor cell stereocilium organization|cell aging|cellular iron ion homeostasis|DNA fragmentation involved in apoptotic nuclear change|double-strand break repair|embryo implantation|glutathione metabolic process|heart contraction|hydrogen peroxide biosynthetic process|locomotory behavior|muscle cell homeostasis|myeloid cell homeostasis|negative regulation of cholesterol biosynthetic process|negative regulation of neuron apoptosis|neurofilament cytoskeleton organization|ovarian follicle development|peripheral nervous system myelin maintenance|placenta development|platelet activation|platelet degranulation|positive regulation of cytokine production|regulation of blood pressure|regulation of mitochondrial membrane potential|regulation of multicellular organism growth|regulation of organ growth|regulation of T cell differentiation in thymus|relaxation of vascular smooth muscle|removal of superoxide radicals|response to axon injury|response to drug|response to ethanol|response to heat|response to hydrogen peroxide|retina homeostasis|sensory perception of sound|spermatogenesis|thymus development	cytoplasmic vesicle|cytosol|dendrite cytoplasm|extracellular matrix|extracellular space|mitochondrial matrix|neuronal cell body|nucleus|peroxisome|protein complex	chaperone binding|copper ion binding|protein homodimerization activity|protein phosphatase 2B binding|superoxide dismutase activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)	4						GCGGAGACGGGGTGCTGGTTT	0.662000													5	9					0	0	0.000602	0	0
WWP2	11060	broad.mit.edu	37	16	69874159	69874159	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:69874159G>C	ENST00000359154.2	+	5	572	c.471G>C	c.(469-471)ctG>ctC	p.L157L	WWP2_ENST00000542271.1_Silent_p.L41L|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.L157L|WWP2_ENST00000356003.2_Silent_p.L157L|WWP2_ENST00000569174.1_Silent_p.L157L	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	157					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCAGTGCCCTGACAGATGGTG	0.602000													3	68					0	0	0.009096	0	0
BRD9	65980	broad.mit.edu	37	5	887482	887482	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:887482C>T	ENST00000323510.4	-	3	362	c.363G>A	c.(361-363)atG>atA	p.M121I	BRD9_ENST00000467963.1_Missense_Mutation_p.M237I|BRD9_ENST00000483173.1_Missense_Mutation_p.M184I|BRD9_ENST00000388890.4_Missense_Mutation_p.M121I|BRD9_ENST00000435709.2_Missense_Mutation_p.M121I			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	237							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TTACTTTGCTCATCATCTTAA	0.507000													18	158					0	0	0.008871	0	0
ESRRG	2104	broad.mit.edu	37	1	216850530	216850530	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:216850530G>A	ENST00000391890.3	-	4	808	c.291C>T	c.(289-291)ctC>ctT	p.L97L	ESRRG_ENST00000463665.1_Silent_p.L97L|ESRRG_ENST00000366940.2_Silent_p.L97L|ESRRG_ENST00000493748.1_Silent_p.L97L|ESRRG_ENST00000408911.3_Silent_p.L120L|ESRRG_ENST00000360012.3_Silent_p.L97L|ESRRG_ENST00000361525.3_Silent_p.L97L|ESRRG_ENST00000487276.1_Silent_p.L97L|ESRRG_ENST00000493603.1_Silent_p.L97L|ESRRG_ENST00000366938.2_Silent_p.L97L|ESRRG_ENST00000366937.1_Silent_p.L125L|ESRRG_ENST00000359162.2_Silent_p.L97L|ESRRG_ENST00000361395.2_Silent_p.L97L	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	120					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GCATCGAGTTGAGCATGTATT	0.502000													23	103					0	0	0.003954	0	0
ATMIN	23300	broad.mit.edu	37	16	81078338	81078338	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:81078338C>G	ENST00000566488.1	+	3	2730	c.1767C>G	c.(1765-1767)gtC>gtG	p.V589V	ATMIN_ENST00000299575.4_Silent_p.V745V|ATMIN_ENST00000564241.1_Silent_p.V589V|ATMIN_ENST00000539819.1_3'UTR			O43313	ATMIN_HUMAN	ATM interactor	745					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CTGAAGGAGTCTCCACTGCTA	0.453000													10	97					0	0	0.006214	0	0
IGHV3-7	28452	broad.mit.edu	37	14	106518403	106518403	+	RNA	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:106518403C>T	ENST00000390598.2	-	0	426																											CTGTGTCTCTCGCACAGTAAT	0.577000													19	280					0	0	0.002780	0	0
MLNR	2862	broad.mit.edu	37	13	49796350	49796350	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:49796350C>T	ENST00000218721.1	+	2	1076	c.1076C>T	c.(1075-1077)tCa>tTa	p.S359L	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	359					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		AACCTCATTTCAAAGAAGTAC	0.512000													37	105					0	0	0.007835	0	0
RUFY3	22902	broad.mit.edu	37	4	71660553	71660553	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:71660553G>A	ENST00000381006.3	+	14	2078	c.1499G>A	c.(1498-1500)aGa>aAa	p.R500K	RUFY3_ENST00000502653.1_Missense_Mutation_p.R447K	NM_001037442.2	NP_001032519.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	335					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AAAGAAAGAAGATTACAAAAC	0.373000													6	90					0	0	0.001984	0	0
MYO7A	4647	broad.mit.edu	37	11	76873901	76873901	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:76873901C>T	ENST00000409709.3	+	14	1829	c.1557C>T	c.(1555-1557)ggC>ggT	p.G519G	MYO7A_ENST00000409893.1_Silent_p.G519G|MYO7A_ENST00000409619.2_Silent_p.G508G|MYO7A_ENST00000458637.2_Silent_p.G519G	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	519	Myosin head-like.		G -> D (in USH1B; the deleterious effect remains to be proven).		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						CTCCCCAGGGCACAGACACCA	0.597000													38	87					0	0	0.004289	0	0
KIAA1551	55196	broad.mit.edu	37	12	32135670	32135670	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:32135670C>G	ENST00000312561.4	+	4	2195	c.1781C>G	c.(1780-1782)aCt>aGt	p.T594S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		GCACGTAAGACTCAGAAGACA	0.358000													11	16					0	0	0.010729	0	0
MCM7	4176	broad.mit.edu	37	7	99696309	99696309	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:99696309G>A	ENST00000303887.5	-	6	1257	c.612C>T	c.(610-612)atC>atT	p.I204I	MCM7_ENST00000343023.6_Silent_p.I204I|MCM7_ENST00000354230.3_Silent_p.I28I	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	204					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)	TTGGGCACATGATCAGAGGCA	0.517000													25	88					0	0	0.003330	0	0
HERC2	8924	broad.mit.edu	37	15	28463722	28463722	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:28463722G>A	ENST00000261609.7	-	38	6049	c.5941C>T	c.(5941-5943)Cat>Tat	p.H1981Y		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1981					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATCTCAGCATGAACTCCAGCA	0.458000													37	71					0	0	0.005524	0	0
ARRDC3	57561	broad.mit.edu	37	5	90670857	90670857	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:90670857C>T	ENST00000265138.3	-	5	1018	c.752G>A	c.(751-753)cGt>cAt	p.R251H		NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	251					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GGATTCCCCACGCAAGTTAGC	0.468000													13	66					0	0	0.001855	0	0
HIVEP2	3097	broad.mit.edu	37	6	143091557	143091557	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:143091557C>T	ENST00000367603.2	-	5	5061	c.4319G>A	c.(4318-4320)cGa>cAa	p.R1440Q	HIVEP2_ENST00000012134.2_Missense_Mutation_p.R1440Q|HIVEP2_ENST00000367604.1_Missense_Mutation_p.R1440Q	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1440					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)		AGAAAGCATTCGCTTGCTACC	0.517000													23	57					0	0	0.002780	0	0
MAP4K1	11184	broad.mit.edu	37	19	39101700	39101700	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:39101700C>G	ENST00000591517.1	-	11	829	c.801G>C	c.(799-801)aaG>aaC	p.K267N	MAP4K1_ENST00000589130.1_Missense_Mutation_p.K263N|MAP4K1_ENST00000396857.2_Missense_Mutation_p.K267N|MAP4K1_ENST00000589002.1_Intron|MAP4K1_ENST00000423454.2_Intron|MAP4K1_ENST00000586296.1_Missense_Mutation_p.K267N	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	267	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CACTGAGCATCTTGGTGGCGC	0.532000													6	16					0	0	0.001168	0	0
FBN2	2201	broad.mit.edu	37	5	127599217	127599217	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:127599217C>G	ENST00000508053.1	-	69	9066	c.8092G>C	c.(8092-8094)Gag>Cag	p.E2698Q	FBN2_ENST00000262464.4_Missense_Mutation_p.E2698Q			P35556	FBN2_HUMAN	fibrillin 2	2698	EGF-like 47; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GACGAGCACTCATTCACGTCG	0.602000													43	127					0	0	0.010771	0	0
GATAD2B	57459	broad.mit.edu	37	1	153790563	153790563	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:153790563G>A	ENST00000368655.4	-	5	925	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	228						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R228W(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCCCCAGGCCGAGAGGGAAGC	0.522000													46	129					0	0	0.010771	0	0
RARS	5917	broad.mit.edu	37	5	167922356	167922356	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:167922356G>C	ENST00000231572.3	+	6	670	c.616G>C	c.(616-618)Gag>Cag	p.E206Q	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	206					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TATAGCTAAAGAGATGCATGT	0.428000													3	161					0	0	0.004672	0	0
GNPDA1	10007	broad.mit.edu	37	5	141385711	141385711	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:141385711C>G	ENST00000508177.1	-	3	1165	c.407G>C	c.(406-408)gGa>gCa	p.G136A	GNPDA1_ENST00000513454.1_Missense_Mutation_p.G136A|GNPDA1_ENST00000500692.2_Missense_Mutation_p.G136A|GNPDA1_ENST00000311337.6_Missense_Mutation_p.G136A|GNPDA1_ENST00000458112.2_Missense_Mutation_p.G102A|GNPDA1_ENST00000503794.1_Missense_Mutation_p.G136A|GNPDA1_ENST00000542860.1_Intron			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	136					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCTCACCTCCAACAAATAG	0.532000													25	76					0	0	0.002780	0	0
TRRAP	8295	broad.mit.edu	37	7	98545957	98545957	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:98545957G>C	ENST00000359863.4	+	33	4850	c.4641G>C	c.(4639-4641)ctG>ctC	p.L1547L	TRRAP_ENST00000446306.3_Silent_p.L1528L|TRRAP_ENST00000355540.3_Silent_p.L1529L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1547					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGGCGATGCTGATCGAGGTAA	0.512000													13	50					0	0	0.001855	0	0
RBM27	54439	broad.mit.edu	37	5	145651095	145651095	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:145651095C>G	ENST00000265271.5	+	19	3012	c.2846C>G	c.(2845-2847)tCt>tGt	p.S949C	RBM27_ENST00000506502.1_Missense_Mutation_p.S894C	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	949					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCATGTCCTCTCAAGGTCGA	0.478000													8	30					0	0	0.008291	0	0
AGL	178	broad.mit.edu	37	1	100366244	100366244	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:100366244C>G	ENST00000294724.4	+	26	3893	c.3415C>G	c.(3415-3417)Cta>Gta	p.L1139V	AGL_ENST00000361915.3_Missense_Mutation_p.L1139V|AGL_ENST00000370161.2_Missense_Mutation_p.L1123V|AGL_ENST00000361302.3_Missense_Mutation_p.L1123V|AGL_ENST00000361522.4_Missense_Mutation_p.L1122V|AGL_ENST00000370165.3_Missense_Mutation_p.L1139V|AGL_ENST00000370163.3_Missense_Mutation_p.L1139V	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1139					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)		CATTCCTAATCTACTGGGTGA	0.398000													37	151					0	0	0.006999	0	0
SCUBE2	57758	broad.mit.edu	37	11	9087482	9087482	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:9087482G>A	ENST00000457346.2	-	7	880	c.806C>T	c.(805-807)tCa>tTa	p.S269L	SCUBE2_ENST00000450649.2_Missense_Mutation_p.S269L|SCUBE2_ENST00000309263.3_Missense_Mutation_p.S269L|SCUBE2_ENST00000520467.1_Missense_Mutation_p.S269L			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	269						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		ATCCACCACTGATGTGGTGTT	0.522000													14	43					0	0	0.002450	0	0
ALPI	248	broad.mit.edu	37	2	233321905	233321905	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:233321905C>T	ENST00000295463.3	+	5	598	c.521C>T	c.(520-522)tCg>tTg	p.S174L		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	174					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CAGCACGCCTCGCCAGCCGGC	0.627000													16	50					0	0	0.003163	0	0
LAMA3	3909	broad.mit.edu	37	18	21404467	21404467	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr18:21404467G>C	ENST00000313654.9	+	21	2750	c.2509G>C	c.(2509-2511)Gac>Cac	p.D837H	LAMA3_ENST00000399516.3_Missense_Mutation_p.D837H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	837	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.D837N(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGTTTTGCAGACCCATTTTC	0.458000													31	75					0	0	0.009535	0	0
ALPK3	57538	broad.mit.edu	37	15	85407691	85407691	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:85407691G>A	ENST00000258888.5	+	12	5291	c.5124G>A	c.(5122-5124)ctG>ctA	p.L1708L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1708	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CACTGTATCTGATCTACCGGC	0.527000													35	59					0	0	0.004878	0	0
WDR35	57539	broad.mit.edu	37	2	20130163	20130163	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:20130163T>A	ENST00000345530.3	-	26	3263	c.3148A>T	c.(3148-3150)Aag>Tag	p.K1050*	WDR35_ENST00000281405.4_Nonsense_Mutation_p.K1039*|WDR35_ENST00000416055.2_Nonsense_Mutation_p.K523*	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1050										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCACCTGTCTTCAGTGCAGTG	0.433000													19	173					0	0	0.012213	0	0
BCKDK	10295	broad.mit.edu	37	16	31121565	31121565	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:31121565G>A	ENST00000394951.1	+	7	1086	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	BCKDK_ENST00000219794.6_Missense_Mutation_p.V155M|BCKDK_ENST00000394950.3_Missense_Mutation_p.V155M|BCKDK_ENST00000287507.3_Missense_Mutation_p.V155M			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	155					branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						CTGCCAGCTGGTGCGACAGCT	0.607000													18	66					0	0	0.004990	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959660	45959660	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:45959660G>C	ENST00000400375.1	-	1	418	c.374C>G	c.(373-375)tCt>tGt	p.S125C	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	125	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						CTGGCAGCTAGACTGCTGGCA	0.617000													32	113					0	0	0.002836	0	0
DTD1	92675	broad.mit.edu	37	20	18724748	18724748	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:18724748C>G	ENST00000377452.3	+	5	662	c.482C>G	c.(481-483)tCa>tGa	p.S161*		NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	161					D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds			large_intestine(4)|lung(1)|ovary(2)	7						aatCAGCTGTCAAAGCTCGAA	0.413000													5	8					0	0	0.000602	0	0
P4HB	5034	broad.mit.edu	37	17	79813047	79813047	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:79813047C>G	ENST00000331483.4	-	4	817	c.595G>C	c.(595-597)Gac>Cac	p.D199H	P4HB_ENST00000472244.1_5'UTR|P4HB_ENST00000439918.2_Missense_Mutation_p.D155H|P4HB_ENST00000576390.1_Intron	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	199					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.D199H(1)		NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CCATCTTTGTCGAGCTGGTAT	0.542000													65	197					0	0	0.003610	0	0
FKBPL	63943	broad.mit.edu	37	6	32097143	32097143	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:32097143C>T	ENST00000375156.3	-	2	685	c.415G>A	c.(415-417)Gag>Aag	p.E139K		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	139					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										GTCCAGCCCTCTGGCGGCCCT	0.562000													85	228					0	0	0.003610	0	0
NEK1	4750	broad.mit.edu	37	4	170523167	170523167	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:170523167G>A	ENST00000439128.2	-	3	846	c.206C>T	c.(205-207)tCa>tTa	p.S69L	NEK1_ENST00000512193.1_Missense_Mutation_p.S69L|NEK1_ENST00000511633.1_Missense_Mutation_p.S69L|NEK1_ENST00000507142.1_Missense_Mutation_p.S69L|NEK1_ENST00000510533.1_Missense_Mutation_p.S69L	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	69	Protein kinase.				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		ACCTTCAAATGATTCTCTATA	0.328000													13	75					0	0	0.001368	0	0
STEAP4	79689	broad.mit.edu	37	7	87913538	87913538	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:87913538G>A	ENST00000380079.4	-	2	148	c.47C>T	c.(46-48)tCa>tTa	p.S16L	STEAP4_ENST00000414498.1_Missense_Mutation_p.S16L|AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.S16L|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	16					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					TTGCTTTTCTGAAGAATTCAT	0.353000													10	34					0	0	0.008291	0	0
POLE	5426	broad.mit.edu	37	12	133248806	133248806	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:133248806C>T	ENST00000320574.5	-	16	1832	c.1789G>A	c.(1789-1791)Gaa>Aaa	p.E597K	POLE_ENST00000535270.1_Missense_Mutation_p.E570K	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	597					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GTTACCTCTTCAAAGTTGGTG	0.557000								DNA polymerases (catalytic subunits)					12	64					0	0	0.001368	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062393	76062393	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:76062393C>T	ENST00000260045.3	-	5	1906	c.1801G>A	c.(1801-1803)Gct>Act	p.A601T		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	601					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CATTTAAGAGCTTTGAGGTGC	0.413000													37	89					0	0	0.013114	0	0
ETS2	2114	broad.mit.edu	37	21	40194812	40194812	+	Nonstop_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:40194812G>T	ENST00000360214.3	+	11	1869	c.1409G>T	c.(1408-1410)tGa>tTa	p.*470L	ETS2_ENST00000360938.3_Nonstop_Mutation_p.*470L	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	0					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				ACGGAGGACTGAGGTCGCCGG	0.657000													31	11					1.74807e-11	1.88e-11	0.010818	1	0
MALAT1	378938	broad.mit.edu	37	11	65273372	65273372	+	RNA	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:65273372G>C	ENST00000534336.1	+	0	8140					NR_002819.2																						TTGAGTGGCTGAGAGGGCTTT	0.428000													21	65					0	0	0.012319	0	0
C1orf159	54991	broad.mit.edu	37	1	1019467	1019467	+	Splice_Site	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:1019467C>T	ENST00000482816.1	-	10	821		c.e10-1		C1orf159_ENST00000448924.1_Silent_p.E292E|C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000379319.1_Intron|C1orf159_ENST00000379339.1_Silent_p.E292E|C1orf159_ENST00000294576.5_Silent_p.E256E|C1orf159_ENST00000379320.1_Silent_p.E256E			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159							integral to membrane						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;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GACCCCACGTCTCGGGAACAG	0.647000													3	23					0	0	0.004672	0	0
PMPCA	23203	broad.mit.edu	37	9	139309033	139309033	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:139309033G>C	ENST00000371717.3	+	5	475	c.466G>C	c.(466-468)Gat>Cat	p.D156H	PMPCA_ENST00000371720.1_Intron|PMPCA_ENST00000399219.3_Intron	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	156					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TGTGTCTGCTGATAGCAAAGG	0.572000													6	94					0	0	0.001168	0	0
FKBPL	63943	broad.mit.edu	37	6	32097257	32097257	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:32097257C>A	ENST00000375156.3	-	2	571	c.301G>T	c.(301-303)Gat>Tat	p.D101Y		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	101					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										AAGCTCCCATCGGGGCAGTAC	0.517000													21	84					1.01871e-10	1.09265e-10	0.008871	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85500377	85500377	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:85500377C>T	ENST00000393217.2	+	15	3422	c.3361C>T	c.(3361-3363)Caa>Taa	p.Q1121*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1121	LRRCT.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CCCACTTCTTCAAGAAACAAA	0.333000													11	61					0	0	0.010729	0	0
BIN3	55909	broad.mit.edu	37	8	22494439	22494439	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:22494439G>A	ENST00000276416.6	-	3	162	c.94C>T	c.(94-96)Cag>Tag	p.Q32*	BIN3_ENST00000399977.4_Silent_p.F4F|BIN3_ENST00000520292.1_Nonsense_Mutation_p.Q32*|BIN3_ENST00000519513.1_Intron|BIN3_ENST00000519335.1_5'UTR	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	32	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		ACTCACTGCTGAAGTTTTCCA	0.547000													10	44					0	0	0.008291	0	0
SYDE1	85360	broad.mit.edu	37	19	15222217	15222217	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:15222217G>A	ENST00000600252.1	+	2	1997	c.355G>A	c.(355-357)Gag>Aag	p.E119K	SYDE1_ENST00000600440.1_Missense_Mutation_p.E395K|SYDE1_ENST00000342784.2_Missense_Mutation_p.E462K			Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	462	Pro-rich.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CTGCCTATCTGAGGACCTGTA	0.592000													4	56					0	0	0.009096	0	0
NACC1	112939	broad.mit.edu	37	19	13247207	13247207	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:13247207G>C	ENST00000292431.4	+	3	1234	c.1108G>C	c.(1108-1110)Gag>Cag	p.E370Q		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	370					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						TGAGAAGCTGGAGCTGGTGAC	0.662000													12	46					0	0	0.002450	0	0
MED16	10025	broad.mit.edu	37	19	873569	873569	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:873569G>C	ENST00000312090.6	-	11	1935	c.1785C>G	c.(1783-1785)gtC>gtG	p.V595V	MED16_ENST00000589119.1_Silent_p.V595V|MED16_ENST00000269814.4_Silent_p.V595V|MED16_ENST00000395808.3_Silent_p.V595V|MED16_ENST00000606828.1_5'UTR|MED16_ENST00000325464.1_Silent_p.V595V			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	595					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|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)		GGTTGATCATGACCTTGTCAA	0.572000													21	33					0	0	0.008871	0	0
IGF1R	3480	broad.mit.edu	37	15	99459287	99459287	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:99459287G>C	ENST00000268035.6	+	9	2534	c.1923G>C	c.(1921-1923)ctG>ctC	p.L641L	IGF1R_ENST00000558762.1_Silent_p.L641L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	641	Fibronectin type-III 2.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	ACGGCAACCTGAGTTACTACA	0.557000													33	105					0	0	0.002836	0	0
SMIM21	284274	broad.mit.edu	37	18	73122767	73122767	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr18:73122767G>C	ENST00000382638.3	-	2	297	c.227C>G	c.(226-228)tCa>tGa	p.S76*	RP11-321M21.3_ENST00000578340.1_Intron|RP11-321M21.3_ENST00000579386.1_Intron|SMIM21_ENST00000579022.1_3'UTR					small integral membrane protein 21																		TTTTCATCTTGAGCAGGGGAA	0.398000													4	15					0	0	0.009096	0	0
TOPORS	10210	broad.mit.edu	37	9	32542604	32542604	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:32542604C>T	ENST00000360538.2	-	3	2035	c.1919G>A	c.(1918-1920)aGa>aAa	p.R640K	TOPORS_ENST00000379858.1_Missense_Mutation_p.R575K	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	640	Arg-rich.|Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TTTGTCTCTTCTCCCTCTAGG	0.423000													80	236					0	0	0.003610	0	0
TBC1D31	93594	broad.mit.edu	37	8	124138784	124138784	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:124138784G>C	ENST00000287380.1	+	13	1831	c.1741G>C	c.(1741-1743)Gaa>Caa	p.E581Q	TBC1D31_ENST00000522420.1_Missense_Mutation_p.E476Q|TBC1D31_ENST00000521676.1_Missense_Mutation_p.E458Q|TBC1D31_ENST00000378080.2_Missense_Mutation_p.E476Q|TBC1D31_ENST00000327098.5_Missense_Mutation_p.E581Q|TBC1D31_ENST00000518805.1_Missense_Mutation_p.E214Q|TBC1D31_ENST00000309336.3_Missense_Mutation_p.E581Q	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		TGTGTTCTCAGAAGTGCTGAC	0.368000													14	28					0	0	0.002450	0	0
ESR2	2100	broad.mit.edu	37	14	64746790	64746790	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:64746790G>A	ENST00000557772.1	-	2	443	c.444C>T	c.(442-444)ttC>ttT	p.F148F	ESR2_ENST00000357782.2_Silent_p.F148F|ESR2_ENST00000353772.3_Silent_p.F148F|ESR2_ENST00000341099.4_Silent_p.F148F|ESR2_ENST00000555483.1_Intron|ESR2_ENST00000555278.1_Silent_p.F148F|ESR2_ENST00000267525.6_Silent_p.F148F|ESR2_ENST00000554572.1_Silent_p.F148F|ESR2_ENST00000553796.1_Silent_p.F148F|ESR2_ENST00000542956.1_Silent_p.F148F|ESR2_ENST00000358599.5_Silent_p.F148F	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	148	Modulating.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	AGACAGCGCAGAAGTGAGCAT	0.478000													39	190					0	0	0.006230	0	0
ZNF546	339327	broad.mit.edu	37	19	40519724	40519724	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:40519724G>C	ENST00000347077.4	+	7	763	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	ZNF546_ENST00000600094.1_Missense_Mutation_p.E157Q|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACATGAATTTGAGAGACAAGA	0.358000													22	32					0	0	0.002299	0	0
CDKN1B	1027	broad.mit.edu	37	12	12874066	12874066	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:12874066C>A	ENST00000396340.1	+	2	561	c.543C>A	c.(541-543)ttC>ttA	p.F181L	CDKN1B_ENST00000477087.1_3'UTR|CDKN1B_ENST00000228872.4_3'UTR			P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	0					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		TCGCTGACTTCATGGAATGGA	0.328000													6	20					0.00116845	0.00120157	0.001168	1	0
MALAT1	378938	broad.mit.edu	37	11	65272327	65272327	+	RNA	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:65272327G>A	ENST00000534336.1	+	0	7095					NR_002819.2																						AAGGGCCAGAGAAGCCAGACC	0.413000													12	31					0	0	0.002450	0	0
OCLM	10896	broad.mit.edu	37	1	186370311	186370311	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:186370311G>C	ENST00000574641.1	+	1	608	c.134G>C	c.(133-135)tGa>tCa	p.*45S	C1orf27_ENST00000367470.3_Intron|C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000419367.3_Intron|C1orf27_ENST00000287859.6_Intron	NM_022375.3	NP_071770.1	Q9Y5M6	TISR_HUMAN	oculomedin	0					visual perception												TTAGTACTTTGAAATTTTTGC	0.289000													8	21					0	0	0.003080	0	0
PTCH2	8643	broad.mit.edu	37	1	45295679	45295679	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:45295679C>G	ENST00000447098.2	-	7	848	c.837G>C	c.(835-837)ctG>ctC	p.L279L	PTCH2_ENST00000372192.3_Silent_p.L279L	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	279					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)					AGCCCCCACTCAGCTCGTGAG	0.607000									Basal Cell Nevus syndrome				10	42					0	0	0.008291	0	0
TANC1	85461	broad.mit.edu	37	2	160087378	160087378	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:160087378C>T	ENST00000263635.6	+	27	5678	c.5441C>T	c.(5440-5442)tCt>tTt	p.S1814F	TANC1_ENST00000454300.1_Missense_Mutation_p.S1708F	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1814						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						CCAGTCCACTCTCAAGAGAAC	0.463000													8	43					0	0	0.006214	0	0
TGFBR2	7048	broad.mit.edu	37	3	30691947	30691947	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:30691947C>G	ENST00000295754.5	+	3	831	c.449C>G	c.(448-450)tCa>tGa	p.S150*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.S175*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	150					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ATCATCTTCTCAGAAGGTGAG	0.433000													17	42					0	0	0.004990	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17699613	17699613	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:17699613C>T	ENST00000399080.2	-	1	93	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	24										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCCGGGTCCTCAGGAGGCGTT	0.602000													40	109					0	0	0.004878	0	0
ANKRD17	26057	broad.mit.edu	37	4	73957704	73957704	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:73957704G>A	ENST00000358602.4	-	29	5757	c.5641C>T	c.(5641-5643)Ctt>Ttt	p.L1881F	ANKRD17_ENST00000330838.6_Missense_Mutation_p.L1630F|ANKRD17_ENST00000509867.2_Missense_Mutation_p.L1768F	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1881					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTAATGGAAGAGAAACTGGA	0.483000													21	116					0	0	0.008871	0	0
TSPYL5	85453	broad.mit.edu	37	8	98289207	98289207	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:98289207C>G	ENST00000322128.3	-	1	969	c.866G>C	c.(865-867)aGa>aCa	p.R289T		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	289					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GTAGCCCAATCTGGCAAGGCC	0.473000													27	69					0	0	0.004656	0	0
DMD	1756	broad.mit.edu	37	X	32398771	32398771	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:32398771C>A	ENST00000357033.4	-	34	4907	c.4701G>T	c.(4699-4701)gaG>gaT	p.E1567D	DMD_ENST00000378677.2_Missense_Mutation_p.E1563D	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1567	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCAAGCATTTCTCCAACTGTT	0.338000													23	17					1.28384e-07	1.35516e-07	0.012319	1	0
FUBP3	8939	broad.mit.edu	37	9	133507625	133507625	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:133507625C>A	ENST00000319725.9	+	16	1545	c.1470C>A	c.(1468-1470)agC>agA	p.S490R		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	490					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		GCTGGGGCAGCACCTACCAGG	0.622000													12	32					4.3838e-07	4.60906e-07	0.001855	1	0
AKAP3	10566	broad.mit.edu	37	12	4736776	4736776	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:4736776C>G	ENST00000545990.2	-	5	1816	c.1292G>C	c.(1291-1293)aGa>aCa	p.R431T	AKAP3_ENST00000228850.1_Missense_Mutation_p.R431T	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	431					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						CATTTTTTCTCTCAATTTAGT	0.408000													21	108					0	0	0.008871	0	0
VPS13C	54832	broad.mit.edu	37	15	62228879	62228879	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:62228879G>A	ENST00000261517.5	-	48	5745	c.5672C>T	c.(5671-5673)tCa>tTa	p.S1891L	VPS13C_ENST00000395898.3_Missense_Mutation_p.S1848L|VPS13C_ENST00000249837.3_Missense_Mutation_p.S1848L|VPS13C_ENST00000395896.4_Missense_Mutation_p.S1891L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1891					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCTTGGTTGTGAGGAAGCTTC	0.373000													8	18					0	0	0.003080	0	0
CERS3	204219	broad.mit.edu	37	15	100943007	100943007	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:100943007C>G	ENST00000284382.4	-	13	1486	c.1063G>C	c.(1063-1065)Gag>Cag	p.E355Q	CERS3_ENST00000538112.2_Missense_Mutation_p.E355Q|RP11-168G16.2_ENST00000560718.1_RNA|CERS3_ENST00000394113.1_Missense_Mutation_p.E355Q|RP11-168G16.2_ENST00000560643.1_RNA|CERS3_ENST00000560944.1_5'UTR	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	355	Poly-Glu.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TTGGTAGcctcttcttcttcc	0.483000													7	23					0	0	0.003080	0	0
PRND	23627	broad.mit.edu	37	20	4705248	4705248	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:4705248C>G	ENST00000305817.2	+	2	122	c.51C>G	c.(49-51)ctC>ctG	p.L17L		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	17					protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						GCATGCTGCTCTTCAGCCACC	0.632000													23	64					0	0	0.002299	0	0
ZNF385B	151126	broad.mit.edu	37	2	180634445	180634445	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:180634445T>C	ENST00000410066.1	-	3	641	c.38A>G	c.(37-39)aAg>aGg	p.K13R		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	13						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CTTTATCCCCTTTTCTTCAAA	0.423000													3	87					0	0	0.004672	0	0
BMPR2	659	broad.mit.edu	37	2	203395617	203395617	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:203395617G>A	ENST00000374580.4	+	8	1607	c.1068G>A	c.(1066-1068)atG>atA	p.M356I	BMPR2_ENST00000374574.2_Missense_Mutation_p.M356I	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	356	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GACTGTCCATGAGGCTGACTG	0.418000													9	23					0	0	0.008291	0	0
CCDC80	151887	broad.mit.edu	37	3	112358405	112358405	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:112358405C>T	ENST00000206423.3	-	2	1301	c.348G>A	c.(346-348)gaG>gaA	p.E116E	CCDC80_ENST00000439685.2_Silent_p.E116E|CCDC80_ENST00000475181.1_5'UTR	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	116										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CTCTGATCATCTCACGCGGAG	0.602000													27	108					0	0	0.008361	0	0
FAM151A	338094	broad.mit.edu	37	1	55081832	55081832	+	Silent	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:55081832G>T	ENST00000302250.2	-	3	436	c.276C>A	c.(274-276)gtC>gtA	p.V92V	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Silent_p.V92V	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	92						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CAGCCTCCAGGACTGTGATGT	0.453000													29	69					1.74807e-11	1.88e-11	0.010818	1	0
SVIL	6840	broad.mit.edu	37	10	29821937	29821937	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr10:29821937C>A	ENST00000375398.2	-	10	1808	c.1359G>T	c.(1357-1359)aaG>aaT	p.K453N	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.K453N			O95425	SVIL_HUMAN	supervillin	453					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GTAGGGTTTTCTTGCTTTGCT	0.483000													25	38					0.00106085	0.00109233	0.006320	1	0
TRIP11	9321	broad.mit.edu	37	14	92469811	92469811	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92469811C>T	ENST00000267622.4	-	11	4882	c.4509G>A	c.(4507-4509)atG>atA	p.M1503I		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1503			M -> V (in dbSNP:rs34839498).		transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CCTTCTCCTTCATTGAGTGGC	0.413000			T	PDGFRB	AML								15	64					0	0	0.003163	0	0
SDK1	221935	broad.mit.edu	37	7	4213926	4213926	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:4213926G>T	ENST00000404826.2	+	33	5012	c.4873G>T	c.(4873-4875)Gcc>Tcc	p.A1625S	SDK1_ENST00000389531.3_Missense_Mutation_p.A1625S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1625	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGAGTATGAAGCCGGGTCAGG	0.552000													42	256					1.38658e-30	1.53893e-30	0.003610	1	0
GPR179	440435	broad.mit.edu	37	17	36499096	36499096	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:36499096C>T	ENST00000342292.4	-	1	597	c.577G>A	c.(577-579)Gac>Aac	p.D193N		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	193						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCAGGGGTGTCCAGGTCCCCA	0.637000													18	77					0	0	0.006122	0	0
LYPLAL1	127018	broad.mit.edu	37	1	219384873	219384873	+	Nonsense_Mutation	SNP	C	C	T	rs140122550		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:219384873C>T	ENST00000366928.5	+	5	564	c.517C>T	c.(517-519)Cag>Tag	p.Q173*	LYPLAL1_ENST00000366927.3_Nonsense_Mutation_p.Q157*|LYPLAL1_ENST00000483635.1_3'UTR	NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	173						cytoplasm	lysophospholipase activity			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TGAATTATTTCAGTGTCATGG	0.353000													29	104					0	0	0.007291	0	0
MALAT1	378938	broad.mit.edu	37	11	65272949	65272949	+	RNA	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:65272949G>A	ENST00000534336.1	+	0	7717					NR_002819.2																						GGGAAAGGGGGAAAGCGGGCA	0.488000													19	87					0	0	0.010504	0	0
VSTM2L	128434	broad.mit.edu	37	20	36572481	36572481	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:36572481C>T	ENST00000373459.4	+	2	460	c.220C>T	c.(220-222)Cag>Tag	p.Q74*	VSTM2L_ENST00000373461.4_Silent_p.F147F|VSTM2L_ENST00000373458.3_Silent_p.F130F			Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	0	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				TCATCGACTTCAGCGACGGCA	0.672000													8	20					0	0	0.004482	0	0
SSFA2	6744	broad.mit.edu	37	2	182763789	182763789	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:182763789G>A	ENST00000431877.2	+	6	632	c.453G>A	c.(451-453)ggG>ggA	p.G151G	SSFA2_ENST00000320370.7_Silent_p.G151G|SSFA2_ENST00000409001.1_Silent_p.G151G|SSFA2_ENST00000428267.2_5'UTR	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	151						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ATCAGAAAGGGAGAAGTATGA	0.323000													5	27					0	0	0.001168	0	0
GATA6	2627	broad.mit.edu	37	18	19761413	19761413	+	Splice_Site	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr18:19761413G>A	ENST00000269216.3	+	4	1579		c.e4-1		GATA6_ENST00000581694.1_Splice_Site	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6						blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			ACTGTTTCTAGCCTTCATCAC	0.418000													11	44					0	0	0.010729	0	0
ALPK3	57538	broad.mit.edu	37	15	85370749	85370749	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:85370749G>C	ENST00000258888.5	+	3	990	c.823G>C	c.(823-825)Gag>Cag	p.E275Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	275					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCAGCTCACAGAGGAGACCCA	0.562000													6	46					0	0	0.001168	0	0
TICRR	90381	broad.mit.edu	37	15	90144539	90144539	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:90144539C>G	ENST00000268138.7	+	10	2269	c.2164C>G	c.(2164-2166)Cag>Gag	p.Q722E	TICRR_ENST00000560985.1_Missense_Mutation_p.Q721E					TOPBP1-interacting checkpoint and replication regulator																		GTGCCAGCTTCAGGTATTTCT	0.373000													6	34					0	0	0.001984	0	0
RNF169	254225	broad.mit.edu	37	11	74546869	74546869	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:74546869C>G	ENST00000299563.4	+	6	1234	c.1221C>G	c.(1219-1221)atC>atG	p.I407M		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	407							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						CTCTCATCATCAAATCAACTC	0.493000													38	120					0	0	0.006230	0	0
YTHDC2	64848	broad.mit.edu	37	5	112889016	112889016	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:112889016C>T	ENST00000161863.4	+	13	2040	c.1827C>T	c.(1825-1827)atC>atT	p.I609I	YTHDC2_ENST00000515883.1_Silent_p.I609I	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	609							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TGGATTTGATCATGCATCTTC	0.343000													9	21					0	0	0.008291	0	0
TRIP11	9321	broad.mit.edu	37	14	92471131	92471131	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471131C>T	ENST00000267622.4	-	11	3562	c.3189G>A	c.(3187-3189)caG>caA	p.Q1063Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1063					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CCAAATCTTTCTGCTGAATAA	0.343000			T	PDGFRB	AML								14	42					0	0	0.002450	0	0
OGFOD3	79701	broad.mit.edu	37	17	80352382	80352382	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:80352382T>A	ENST00000329197.5	-	9	951	c.861A>T	c.(859-861)caA>caT	p.Q287H	OGFOD3_ENST00000313056.5_Intron					2-oxoglutarate and iron-dependent oxygenase domain containing 3																		CATTAACTTCTTGGAACCCAC	0.582000													18	68					0	0	0.010504	0	0
SPOCK1	6695	broad.mit.edu	37	5	136315065	136315065	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:136315065C>T	ENST00000394945.1	-	10	1254	c.1085G>A	c.(1084-1086)gGg>gAg	p.G362E	SPOCK1_ENST00000282223.7_Missense_Mutation_p.G362E|SPOCK1_ENST00000509978.1_5'UTR	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	362	Thyroglobulin type-1.				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAACTCATTCCCATATTTGTC	0.587000													4	104					0	0	0.009096	0	0
WDR35	57539	broad.mit.edu	37	2	20130164	20130164	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:20130164C>T	ENST00000345530.3	-	26	3262	c.3147G>A	c.(3145-3147)ctG>ctA	p.L1049L	WDR35_ENST00000281405.4_Silent_p.L1038L|WDR35_ENST00000416055.2_Silent_p.L522L	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1049										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTGTCTTCAGTGCAGTGT	0.438000													18	174					0	0	0.010818	0	0
LRRC41	10489	broad.mit.edu	37	1	46745255	46745255	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:46745255C>T	ENST00000343304.6	-	8	2337	c.2052G>A	c.(2050-2052)gaG>gaA	p.E684E	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	684										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTGGGCGCTTCTCAAACAGAC	0.552000													45	132					0	0	0.011902	0	0
CEP250	11190	broad.mit.edu	37	20	34054793	34054793	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:34054793C>T	ENST00000397527.1	+	8	1215	c.495C>T	c.(493-495)ttC>ttT	p.F165F	CEP250_ENST00000397524.1_Silent_p.F165F|CEP250_ENST00000342580.4_Silent_p.F165F	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	165					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ACACACAGTTCTTCAAGGGCT	0.522000													18	42					0	0	0.007413	0	0
ABCA2	20	broad.mit.edu	37	9	139910481	139910481	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:139910481C>T	ENST00000265662.5	-	22	3397	c.3250G>A	c.(3250-3252)Gaa>Aaa	p.E1084K	ABCA2_ENST00000371605.3_Missense_Mutation_p.E1083K|ABCA2_ENST00000341511.6_Missense_Mutation_p.E1084K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1083	ABC transporter 1.				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)		CAGAGGTGTTCCTCCACCGTG	0.622000													23	35					0	0	0.002299	0	0
DGKB	1607	broad.mit.edu	37	7	14613864	14613864	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:14613864G>A	ENST00000403951.2	-	20	2165	c.1746C>T	c.(1744-1746)atC>atT	p.I582I	DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Silent_p.I574I|DGKB_ENST00000444700.2_Silent_p.I563I|DGKB_ENST00000258767.5_Silent_p.I582I|DGKB_ENST00000399322.3_Silent_p.I582I|DGKB_ENST00000406247.3_Silent_p.I582I|DGKB_ENST00000402815.1_Silent_p.I581I			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	582					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	AATTATTGATGATACTGTAAG	0.358000													4	160					0	0	0.001168	0	0
OR5H15	403274	broad.mit.edu	37	3	97887885	97887885	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:97887885C>G	ENST00000356526.2	+	1	342	c.342C>G	c.(340-342)ctC>ctG	p.L114L		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						AATGTTTTCTCTTGGCAACAA	0.378000													35	122					0	0	0.002836	0	0
ITPR3	3710	broad.mit.edu	37	6	33656530	33656530	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:33656530C>G	ENST00000374316.5	+	50	7726	c.6666C>G	c.(6664-6666)ttC>ttG	p.F2222L	ITPR3_ENST00000605930.1_Missense_Mutation_p.F2222L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2222					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TTGCCTTCTTCTACCCTTACA	0.612000													18	68					0	0	0.006122	0	0
TRIP11	9321	broad.mit.edu	37	14	92488028	92488028	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92488028G>A	ENST00000267622.4	-	4	833	c.460C>T	c.(460-462)Cct>Tct	p.P154S		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	154					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AAAGCTGAAGGATGATGACTA	0.433000			T	PDGFRB	AML								11	44					0	0	0.008291	0	0
SLC9A7	84679	broad.mit.edu	37	X	46472745	46472745	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:46472745C>G	ENST00000328306.4	-	16	1930	c.1905G>C	c.(1903-1905)ctG>ctC	p.L635L	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	635					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GGGGACTGGTCAGACATCGAG	0.512000													19	27					0	0	0.010504	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122958596	122958596	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:122958596C>T	ENST00000543897.1	-	12	3213	c.858G>A	c.(856-858)caG>caA	p.Q286Q	ZCCHC8_ENST00000538116.1_Silent_p.Q135Q|ZCCHC8_ENST00000536306.1_Silent_p.Q286Q|ZCCHC8_ENST00000336229.4_Silent_p.Q524Q			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	524						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		AGATCCGCCTCTGCTGTTCTT	0.572000													51	107					0	0	0.003610	0	0
MALAT1	378938	broad.mit.edu	37	11	65273364	65273364	+	RNA	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:65273364G>C	ENST00000534336.1	+	0	8132					NR_002819.2																						ATAGGCATTTGAGTGGCTGAG	0.423000													20	65					0	0	0.012319	0	0
APOB	338	broad.mit.edu	37	2	21238409	21238409	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:21238409G>A	ENST00000233242.1	-	22	3468	c.3341C>T	c.(3340-3342)aCa>aTa	p.T1114I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1114					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)	TTCTTCCTTTGTGTCACAACT	0.423000													6	33					0	0	0.003080	0	0
SNRPA	6626	broad.mit.edu	37	19	41257373	41257373	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:41257373G>C	ENST00000243563.3	+	1	610	c.60G>C	c.(58-60)aaG>aaC	p.K20N	SNRPA_ENST00000599570.1_3'UTR	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	20	RRM 1.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCAATGAGAAGATCAAGAAGG	0.522000													47	91					0	0	0.013114	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22886091	22886091	+	Silent	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:22886091G>T	ENST00000276431.4	-	5	785	c.501C>A	c.(499-501)gtC>gtA	p.V167V	TNFRSF10B_ENST00000347739.3_Silent_p.V167V|TNFRSF10B_ENST00000519910.1_5'UTR|TNFRSF10B_ENST00000542226.1_Silent_p.V16V	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	167					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TACAATCACCGACCTTGACCA	0.562000													32	96					9.78485e-24	1.08298e-23	0.002836	1	0
C16orf72	29035	broad.mit.edu	37	16	9210767	9210767	+	Nonstop_Mutation	SNP	T	T	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:9210767T>A	ENST00000327827.7	+	4	1223	c.826T>A	c.(826-828)Taa>Aaa	p.*276K		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	0										endometrium(4)|large_intestine(2)|lung(2)	8						CAGAATGATCTAAACTGCAAA	0.453000													14	84					0	0	0.004007	0	0
CXCR2	3579	broad.mit.edu	37	2	219000410	219000410	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:219000410C>T	ENST00000318507.2	+	3	1313	c.886C>T	c.(886-888)Ctg>Ttg	p.L296L		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	296					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CGACCGGGCTCTGGATGCCAC	0.587000													34	74					0	0	0.010818	0	0
ALPK3	57538	broad.mit.edu	37	15	85405874	85405874	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:85405874G>A	ENST00000258888.5	+	10	4911	c.4744G>A	c.(4744-4746)Gag>Aag	p.E1582K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1582					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGTTGGAGAAGAGATTGAGAT	0.572000													19	58					0	0	0.010504	0	0
CACNA1F	778	broad.mit.edu	37	X	49076130	49076130	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:49076130C>T	ENST00000376265.2	-	20	2600	c.2539G>A	c.(2539-2541)Gag>Aag	p.E847K	CACNA1F_ENST00000376251.1_Missense_Mutation_p.E782K|CACNA1F_ENST00000323022.5_Missense_Mutation_p.E836K	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	847					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GCGCTGCCCTCAGGGATGGGT	0.607000													3	3					0	0	0.009096	0	0
RUNX1	861	broad.mit.edu	37	21	36171624	36171624	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:36171624G>A	ENST00000344691.4	-	5	2437	c.860C>T	c.(859-861)tCt>tTt	p.S287F	RUNX1_ENST00000325074.5_Missense_Mutation_p.S302F|RUNX1_ENST00000300305.3_Missense_Mutation_p.S314F|RUNX1_ENST00000437180.1_Missense_Mutation_p.S314F|RUNX1_ENST00000399240.1_Missense_Mutation_p.S223F	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	287	Pro/Ser/Thr-rich.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.S314fs*168(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						AAGTTCTGCAGAGAGGGTTGT	0.532000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								6	97					0	0	0.001984	0	0
KIAA1429	25962	broad.mit.edu	37	8	95508622	95508622	+	Silent	SNP	T	T	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:95508622T>C	ENST00000297591.5	-	18	4392	c.4317A>G	c.(4315-4317)aaA>aaG	p.K1439K	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1439					mRNA processing|RNA splicing	nucleus		p.K1439fs*18(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTAGAAGCTGTTTTAACTCTG	0.393000													17	35					0	0	0.004990	0	0
SMC4	10051	broad.mit.edu	37	3	160137327	160137327	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:160137327G>T	ENST00000357388.3	+	12	2304	c.1853G>T	c.(1852-1854)aGa>aTa	p.R618I	SMC4_ENST00000360111.2_Missense_Mutation_p.R618I|SMC4_ENST00000344722.5_Missense_Mutation_p.R618I|SMC4_ENST00000462787.1_Missense_Mutation_p.R618I|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.R593I	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	618	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATATATGGAAGATTGGTAAAG	0.353000													7	65					8.12818e-05	8.40193e-05	0.001984	1	0
EGFR	1956	broad.mit.edu	37	7	55224337	55224337	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:55224337C>A	ENST00000275493.2	+	9	1295	c.1118C>A	c.(1117-1119)cCg>cAg	p.P373Q	EGFR_ENST00000454757.2_Missense_Mutation_p.P320Q|EGFR_ENST00000455089.1_Missense_Mutation_p.P328Q|EGFR_ENST00000420316.2_Missense_Mutation_p.P373Q|EGFR_ENST00000342916.3_Missense_Mutation_p.P373Q|EGFR_ENST00000344576.2_Missense_Mutation_p.P373Q|EGFR_ENST00000442591.1_Missense_Mutation_p.P373Q	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	373					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CACATCCTGCCGGTGGCATTT	0.403000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			13	57					1.3612e-06	1.42739e-06	0.003163	1	0
PGBD1	84547	broad.mit.edu	37	6	28251866	28251866	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:28251866C>G	ENST00000405948.2	+	2	696	c.276C>G	c.(274-276)ttC>ttG	p.F92L	PGBD1_ENST00000259883.3_Missense_Mutation_p.F92L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	92	SCAN box.				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TGGAGCAGTTCCTGACCATCC	0.537000													26	74					0	0	0.003954	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681333	44681333	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:44681333T>A	ENST00000381176.4	-	4	706	c.574A>T	c.(574-576)Atg>Ttg	p.M192L		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	192						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TGGAAGGTCATCAGCGGTGGG	0.607000													19	71					0	0	0.002299	0	0
PSMG1	8624	broad.mit.edu	37	21	40549373	40549373	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:40549373C>G	ENST00000331573.3	-	6	1245	c.780G>C	c.(778-780)aaG>aaC	p.K260N	PSMG1_ENST00000380900.2_Missense_Mutation_p.K239N	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	260					proteasome assembly	endoplasmic reticulum	protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				TAACCAAACCCTTCAAGCTTC	0.323000													8	21					0	0	0.003080	0	0
FASN	2194	broad.mit.edu	37	17	80044282	80044282	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:80044282G>C	ENST00000306749.2	-	22	3798	c.3580C>G	c.(3580-3582)Ctg>Gtg	p.L1194V		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1194					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TCCAGCTGCAGGTTCCCGTTG	0.697000													12	27					0	0	0.001855	0	0
DNAH10	196385	broad.mit.edu	37	12	124298073	124298073	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:124298073C>G	ENST00000409039.3	+	19	3178	c.3153C>G	c.(3151-3153)ctC>ctG	p.L1051L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1051	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)		GACTTCAGCTCAGGCATCTGG	0.438000													11	36					0	0	0.008291	0	0
NUP155	9631	broad.mit.edu	37	5	37307413	37307413	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:37307413C>G	ENST00000231498.3	-	25	3092	c.2889G>C	c.(2887-2889)caG>caC	p.Q963H	NUP155_ENST00000513532.1_Missense_Mutation_p.Q899H|NUP155_ENST00000381843.2_Missense_Mutation_p.Q904H|NUP155_ENST00000502533.1_5'UTR	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	963					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTGGAAGGCCTGAAGTCCAA	0.368000													12	65					0	0	0.001368	0	0
MAP1B	4131	broad.mit.edu	37	5	71494026	71494026	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:71494026G>C	ENST00000296755.7	+	5	5142	c.4844G>C	c.(4843-4845)aGa>aCa	p.R1615T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1615						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)		GAATGCCCAAGACCGATGTCA	0.438000													9	107					0	0	0.006214	0	0
AKR7L	246181	broad.mit.edu	37	1	19597298	19597298	+	RNA	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:19597298C>T	ENST00000420396.2	-	0	345				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						GCGCTGTGGTCAGGTGCATGT	0.622000													11	31					0	0	0.008291	0	0
C11orf84	144097	broad.mit.edu	37	11	63581231	63581231	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:63581231G>A	ENST00000294244.4	+	1	372	c.73G>A	c.(73-75)Gag>Aag	p.E25K		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	25										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						AGGGGAGGACGAGGAGGAGGC	0.677000													9	29					0	0	0.004482	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625408	140625408	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:140625408G>A	ENST00000231173.3	+	1	262	c.262G>A	c.(262-264)Gag>Aag	p.E88K		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		88	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)			GATATTAAATGAGAAGCTGGA	0.512000													5	68					0	0	0.001168	0	0
NACA	4666	broad.mit.edu	37	12	57111479	57111479	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57111479C>G	ENST00000454682.1	-	3	4116	c.3835G>C	c.(3835-3837)Gct>Cct	p.A1279P	NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGTGGGGTAGCTAGACCTCCT	0.647000			T	BCL6	NHL								27	76					0	0	0.005443	0	0
ZFP2	80108	broad.mit.edu	37	5	178358777	178358777	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:178358777G>C	ENST00000361362.2	+	5	993	c.463G>C	c.(463-465)Gag>Cag	p.E155Q	ZFP2_ENST00000503510.2_Missense_Mutation_p.E155Q|ZFP2_ENST00000523286.1_Missense_Mutation_p.E155Q|ZFP2_ENST00000520301.1_Missense_Mutation_p.E155Q	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	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)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TCATACTGGAGAGAAACCCTA	0.413000													17	52					0	0	0.007413	0	0
PRRT1	80863	broad.mit.edu	37	6	32118683	32118683	+	Splice_Site	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:32118683C>T	ENST00000211413.5	-	2	144	c.19_splice	c.e2-1	p.G7_splice	PRRT1_ENST00000375152.2_Intron|PRRT1_ENST00000375150.2_Intron	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	7					response to biotic stimulus	integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GTCTGGGAGTCCTGGGGGAGG	0.607000													5	11					0	0	0.000602	0	0
BTBD6	90135	broad.mit.edu	37	14	105716079	105716079	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:105716079C>T	ENST00000463376.2	+	3	844	c.303C>T	c.(301-303)gtC>gtT	p.V101V	BRF1_ENST00000440513.3_Intron|BRF1_ENST00000379937.2_Intron|BTBD6_ENST00000392554.3_Silent_p.V176V|BTBD6_ENST00000536364.1_Silent_p.V176V|BRF1_ENST00000546474.1_Intron|BTBD6_ENST00000327471.3_Silent_p.V101V|BRF1_ENST00000327359.3_Intron			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	176	BTB.					cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		AAGCCTGTGTCAACTTTCTGG	0.567000													6	62					0	0	0.001168	0	0
SLC35D3	340146	broad.mit.edu	37	6	137243566	137243566	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:137243566G>A	ENST00000331858.4	+	0	165					NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3						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)		AGGCCGGCGCGATGCGGCAGC	0.746000													4	9					0	0	0.000602	0	0
ZZEF1	23140	broad.mit.edu	37	17	4009037	4009037	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:4009037G>C	ENST00000381638.2	-	7	1468	c.1344C>G	c.(1342-1344)ctC>ctG	p.L448L	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	448							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CATTAGGGGAGAGGAAAGTTG	0.453000													15	40					0	0	0.004990	0	0
SLC6A14	11254	broad.mit.edu	37	X	115585606	115585606	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:115585606C>T	ENST00000371900.4	+	10	1490	c.1402C>T	c.(1402-1404)Cag>Tag	p.Q468*		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	468					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)	CTGTGTGACTCAGGTATACTA	0.358000													17	21					0	0	0.006122	0	0
RSG1	79363	broad.mit.edu	37	1	16563180	16563180	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:16563180C>T	ENST00000375599.3	-	1	477	c.58G>A	c.(58-60)Gag>Aag	p.E20K		NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	20					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						TCCTTGCCCTCGGCACTCTCG	0.632000													3	5					0	0	0.004672	0	0
IGKV1-17	28937	broad.mit.edu	37	2	89416899	89416899	+	RNA	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:89416899G>A	ENST00000490686.1	-	0	311																											TGCTGATTGTGAGAGTGAATT	0.498000													12	167					0	0	0.001855	0	0
XAF1	54739	broad.mit.edu	37	17	6665494	6665494	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:6665494G>A	ENST00000361842.3	+	5	681	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	XAF1_ENST00000441631.1_Missense_Mutation_p.E148K|XAF1_ENST00000346752.4_Missense_Mutation_p.E129K	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	148					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						TTCAGCTCCTGAAAGGGAAAT	0.408000													12	19					0	0	0.010729	0	0
NPIPA5	100288332	broad.mit.edu	37	16	15457692	15457692	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:15457692G>T	ENST00000360151.4	-	8	876	c.877C>A	c.(877-879)Ctt>Att	p.L293I		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5																		GAGGGTGGAAGGGGAGTGAGC	0.582000													7	63					9.70103e-10	1.03633e-09	0.008291	1	0
ATPAF2	91647	broad.mit.edu	37	17	17921887	17921887	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:17921887G>C	ENST00000474627.3	-	8	1000	c.846C>G	c.(844-846)gtC>gtG	p.V282V	ATPAF2_ENST00000585101.1_Intron	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	282					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					GCTTGTGCTTGACTGTGGTGC	0.642000													25	74					0	0	0.004656	0	0
GRHL1	29841	broad.mit.edu	37	2	10132193	10132193	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:10132193C>G	ENST00000324907.9	+	11	1516	c.1380C>G	c.(1378-1380)ttC>ttG	p.F460L	GRHL1_ENST00000405379.2_Missense_Mutation_p.F460L|GRHL1_ENST00000324883.5_Missense_Mutation_p.F271L	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	460					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TCACAGTTTTCAAACCCTTCA	0.433000													4	26					0	0	0.009096	0	0
NT5C3A	51251	broad.mit.edu	37	7	33060909	33060909	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:33060909C>G	ENST00000396152.2	-	6	615	c.313G>C	c.(313-315)Gag>Cag	p.E105Q	AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000242210.7_Missense_Mutation_p.E144Q|NT5C3A_ENST00000381626.2_Missense_Mutation_p.E93Q|NT5C3A_ENST00000405342.1_Missense_Mutation_p.E105Q|NT5C3A_ENST00000409787.1_Missense_Mutation_p.E105Q|NT5C3A_ENST00000409467.1_Missense_Mutation_p.E93Q	NM_016489.12	NP_057573.2			5'-nucleotidase, cytosolic IIIA																		GGGTACTTCTCTTCTACAGTA	0.313000													19	68					0	0	0.007413	0	0
HRC	3270	broad.mit.edu	37	19	49657579	49657579	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:49657579C>G	ENST00000252825.4	-	1	1102	c.916G>C	c.(916-918)Gat>Cat	p.D306H	HRC_ENST00000595625.1_Missense_Mutation_p.D306H	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	306	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCATCATCATCATTGTCATCT	0.532000													17	55					0	0	0.004990	0	0
ARMC2	84071	broad.mit.edu	37	6	109285456	109285456	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:109285456C>T	ENST00000392644.4	+	16	2394	c.2226C>T	c.(2224-2226)ctC>ctT	p.L742L	ARMC2_ENST00000481850.1_3'UTR|ARMC2_ENST00000368972.3_Silent_p.L577L	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	742							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		GTGTTCTCCTCAATCTCACTG	0.473000													9	25					0	0	0.006214	0	0
EPYC	1833	broad.mit.edu	37	12	91358091	91358091	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:91358091G>A	ENST00000261172.3	-	7	903	c.811C>T	c.(811-813)Ctg>Ttg	p.L271L		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	271					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						TGCATTTCCAGAATGTTGTTA	0.338000													5	22					0	0	0.000602	0	0
INPP5D	3635	broad.mit.edu	37	2	234091127	234091127	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:234091127C>A	ENST00000359570.5	+	21	2107	c.2107C>A	c.(2107-2109)Cag>Aag	p.Q703K	INPP5D_ENST00000538935.1_3'UTR|INPP5D_ENST00000455936.2_Missense_Mutation_p.Q467K|INPP5D_ENST00000450745.1_Missense_Mutation_p.Q467K			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	715					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)		AGTCACTTCCCAGTTTGTCTC	0.507000													18	65					1.33834e-09	1.42589e-09	0.007413	1	0
GALNT10	55568	broad.mit.edu	37	5	153760021	153760021	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:153760021G>A	ENST00000297107.6	+	6	905	c.768G>A	c.(766-768)cgG>cgA	p.R256R	GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000377661.2_Silent_p.R194R|GALNT10_ENST00000425427.2_Silent_p.R256R|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	256						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GCATTGCTCGGAACCGCAAGA	0.512000													43	126					0	0	0.009718	0	0
NUP37	79023	broad.mit.edu	37	12	102471251	102471251	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:102471251G>A	ENST00000552283.1	-	7	710	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	NUP37_ENST00000251074.1_Missense_Mutation_p.R191W			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	191					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			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						TCATAAAACCGGATTGTTCCA	0.368000													20	62					0	0	0.007413	0	0
UBQLN1	29979	broad.mit.edu	37	9	86276731	86276731	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:86276731C>T	ENST00000376395.4	-	11	2264	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	UBQLN1_ENST00000257468.7_Missense_Mutation_p.E553K	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	581	UBA.				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						AGTAACCTTTCAATAGCTGCA	0.383000													24	69					0	0	0.003330	0	0
TRIP11	9321	broad.mit.edu	37	14	92470704	92470704	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92470704C>T	ENST00000267622.4	-	11	3989	c.3616G>A	c.(3616-3618)Gag>Aag	p.E1206K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1206					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TGTAGAAGCTCCTCAAATTGA	0.398000			T	PDGFRB	AML								16	64					0	0	0.004990	0	0
DPYSL4	10570	broad.mit.edu	37	10	134012379	134012379	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr10:134012379G>A	ENST00000338492.4	+	8	879	c.715G>A	c.(715-717)Gct>Act	p.A239T	DPYSL4_ENST00000368627.1_Missense_Mutation_p.A139T|DPYSL4_ENST00000368629.1_Missense_Mutation_p.A139T	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	239					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GGTGTACCGAGCTGTCACCAT	0.657000													4	41					0	0	0.009096	0	0
CACNA2D1	781	broad.mit.edu	37	7	81662153	81662153	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:81662153C>T	ENST00000356860.3	-	12	1441	c.1103G>A	c.(1102-1104)aGa>aAa	p.R368K	CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R368K	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	368	VWFA.					voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CTCCTGGGCTCTCTCTTCTCC	0.279000													13	24					0	0	0.002450	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79973108	79973108	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:79973108C>G	ENST00000306729.7	+	13	1608	c.1511C>G	c.(1510-1512)tCt>tGt	p.S504C	ASPSCR1_ENST00000582404.1_3'UTR|ASPSCR1_ENST00000306739.4_Intron|ASPSCR1_ENST00000580534.1_Intron	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	500							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGCCGAGCCTCTCCAAGCACT	0.632000			T	TFE3	alveolar soft part sarcoma								20	79					0	0	0.010504	0	0
ANKZF1	55139	broad.mit.edu	37	2	220099962	220099962	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:220099962A>T	ENST00000323348.5	+	10	1793	c.1619A>T	c.(1618-1620)cAt>cTt	p.H540L	ANKZF1_ENST00000409849.1_Missense_Mutation_p.H330L|ANKZF1_ENST00000410034.3_Missense_Mutation_p.H540L	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	540						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTCTCCTGCATGCAGCAGCT	0.587000													28	60					0	0	0.006320	0	0
EVPL	2125	broad.mit.edu	37	17	74018542	74018542	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:74018542C>T	ENST00000301607.3	-	5	811	c.558G>A	c.(556-558)caG>caA	p.Q186Q	EVPL_ENST00000586740.1_Silent_p.Q186Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	186	Globular 1.				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						CGATCTCCTTCTGCAGGATGT	0.672000													3	44					0	0	0.004672	0	0
DNAH17	8632	broad.mit.edu	37	17	76455098	76455098	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:76455098G>A	ENST00000389840.5	-	61	9928	c.9804C>T	c.(9802-9804)atC>atT	p.I3268I	DNAH17_ENST00000585328.1_Silent_p.I3277I|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTTGTTTTTGATCCGGGACA	0.582000													21	61					0	0	0.010504	0	0
RSPH4A	345895	broad.mit.edu	37	6	116938309	116938309	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:116938309G>A	ENST00000229554.5	+	1	660	c.523G>A	c.(523-525)Gag>Aag	p.E175K	RSPH4A_ENST00000368580.4_Missense_Mutation_p.E175K|RSPH4A_ENST00000368581.4_Missense_Mutation_p.E175K	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	175					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TAAACAGAAAGAGCTGAGATT	0.512000									Kartagener syndrome				33	116					0	0	0.003755	0	0
BDP1	55814	broad.mit.edu	37	5	70786860	70786860	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:70786860G>A	ENST00000358731.4	+	11	1805	c.1542G>A	c.(1540-1542)aaG>aaA	p.K514K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	514					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)		AATGCAGTAAGGAGCAGATGC	0.383000													7	34					0	0	0.001984	0	0
PCNT	5116	broad.mit.edu	37	21	47773920	47773920	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:47773920G>A	ENST00000359568.5	+	11	1806	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	567	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGTGGGTTTAGAAGAGAAACC	0.498000													3	14					0	0	0.004672	0	0
PCDH17	27253	broad.mit.edu	37	13	58208612	58208612	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:58208612G>T	ENST00000377918.3	+	1	1958	c.1932G>T	c.(1930-1932)gaG>gaT	p.E644D		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	644	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCAGCGGCGAGATCCGCACGC	0.657000													43	122					2.13384e-23	2.35845e-23	0.003610	1	0
MDN1	23195	broad.mit.edu	37	6	90402813	90402813	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:90402813C>T	ENST00000369393.3	-	63	10051	c.9936G>A	c.(9934-9936)aaG>aaA	p.K3312K	MDN1_ENST00000428876.1_Silent_p.K3312K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3312					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGGCCTGTTTCTTCAACAGGT	0.512000													14	35					0	0	0.004007	0	0
PDGFRL	5157	broad.mit.edu	37	8	17486079	17486079	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:17486079C>T	ENST00000541323.1	+	5	1034	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	PDGFRL_ENST00000398074.3_Missense_Mutation_p.R197W|PDGFRL_ENST00000251630.6_Missense_Mutation_p.R197W	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	197						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		GGTTCCTTGTCGGGTGACCGT	0.532000													34	89					0	0	0.003755	0	0
HOXD8	3234	broad.mit.edu	37	2	176995585	176995585	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:176995585C>T	ENST00000313173.4	+	1	1118	c.491C>T	c.(490-492)tCg>tTg	p.S164L	HOXD8_ENST00000544999.1_Missense_Mutation_p.S164L|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Missense_Mutation_p.S60L|HOXD8_ENST00000450510.2_Missense_Mutation_p.S164L|HOXD8_ENST00000429017.1_5'UTR	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	164					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GACTGTAAATCGTCCAGTGGT	0.488000													25	118					0	0	0.003330	0	0
KLK4	9622	broad.mit.edu	37	19	51410250	51410250	+	Silent	SNP	A	A	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:51410250A>C	ENST00000324041.1	-	5	704	c.705T>G	c.(703-705)ggT>ggG	p.G235G	KLK4_ENST00000431178.2_3'UTR	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	235	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		TGGTGTAGACACCTGGCACGC	0.552000													33	96					0	0	0.002836	0	0
GLI1	2735	broad.mit.edu	37	12	57857788	57857788	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57857788C>G	ENST00000228682.2	+	3	198	c.107C>G	c.(106-108)tCt>tGt	p.S36C	GLI1_ENST00000543426.1_Intron|GLI1_ENST00000546141.1_Intron	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	36					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CTAGGACTGTCTGGCCCGCCC	0.552000													42	204					0	0	0.011902	0	0
SMTN	6525	broad.mit.edu	37	22	31484020	31484020	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:31484020G>A	ENST00000333137.7	+	3	339	c.121G>A	c.(121-123)Gag>Aag	p.E41K	SMTN_ENST00000358743.1_Missense_Mutation_p.E41K|SMTN_ENST00000347557.2_Missense_Mutation_p.E41K|SMTN_ENST00000475548.1_3'UTR	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	41					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	p.E41K(2)|p.E33K(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCAGCGGCAGGAGCTGGAGCG	0.652000													6	28					0	0	0.001984	0	0
TANGO6	79613	broad.mit.edu	37	16	68961608	68961608	+	Silent	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:68961608C>A	ENST00000261778.1	+	13	2277	c.2265C>A	c.(2263-2265)gcC>gcA	p.A755A	RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		GAGCCTTTGCCACTGAGGCCG	0.502000													14	140					1.05317e-09	1.12357e-09	0.002450	1	0
VEPH1	79674	broad.mit.edu	37	3	157188282	157188282	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:157188282C>T	ENST00000362010.2	-	3	482	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	VEPH1_ENST00000468233.1_Missense_Mutation_p.E59K|VEPH1_ENST00000392832.2_Missense_Mutation_p.E59K|VEPH1_ENST00000543418.1_Missense_Mutation_p.E59K|VEPH1_ENST00000494677.1_Missense_Mutation_p.E59K|VEPH1_ENST00000537559.1_Missense_Mutation_p.E59K|VEPH1_ENST00000392833.2_Missense_Mutation_p.E59K	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	59						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)			ATACAGATTTCAACTACTGCC	0.408000													30	121					0	0	0.003271	0	0
NPR1	4881	broad.mit.edu	37	1	153661438	153661438	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:153661438C>T	ENST00000368680.3	+	16	2899	c.2427C>T	c.(2425-2427)agC>agT	p.S809S		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	809					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GGGAGAACAGCAGCAACATCC	0.637000													32	100					0	0	0.008361	0	0
INPP1	3628	broad.mit.edu	37	2	191235867	191235867	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:191235867C>G	ENST00000392329.2	+	7	1639	c.939C>G	c.(937-939)ttC>ttG	p.F313L	INPP1_ENST00000541441.1_Missense_Mutation_p.F313L|INPP1_ENST00000322522.4_Missense_Mutation_p.F313L	NM_001128928.1	NP_001122400.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	313					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	ATACCACATTCAAATGGGACT	0.468000													15	55					0	0	0.006122	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122774	12122774	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:12122774G>A	ENST00000379388.2	+	4	3078	c.2746G>A	c.(2746-2748)Gga>Aga	p.G916R		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	916					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.G916R(1)		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)				TCTTGGTACTGGACAGTCCCT	0.517000													12	47					0	0	0.001368	0	0
WDR3	10885	broad.mit.edu	37	1	118483837	118483837	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:118483837C>G	ENST00000349139.4	+	8	927	c.880C>G	c.(880-882)Ctt>Gtt	p.L294V	WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	294						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		AGGCAGGATTCTTGCTTGCCA	0.413000													5	55					0	0	0.001984	0	0
ZIC5	85416	broad.mit.edu	37	13	100622424	100622424	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:100622424G>A	ENST00000267294.4	-	1	1739	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	502					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CGGAGCGCGCGAAGACCTTGC	0.662000													22	95					0	0	0.002780	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870254	151870254	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:151870254G>C	ENST00000329342.5	+	3	1169	c.944G>C	c.(943-945)tGa>tCa	p.*315S		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	0							protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAAGAGTGAGTCTGAGCA	0.577000													29	60					0	0	0.007291	0	0
ETS2	2114	broad.mit.edu	37	21	40194646	40194646	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:40194646G>A	ENST00000360214.3	+	11	1703	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	ETS2_ENST00000360938.3_Missense_Mutation_p.E415K	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	415					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				GATGAACTACGAGAAGCTGAG	0.493000													60	44					0	0	0.003610	0	0
SCN1A	6323	broad.mit.edu	37	2	166900256	166900256	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:166900256C>A	ENST00000423058.2	-	11	1983	c.1966G>T	c.(1966-1968)Gga>Tga	p.G656*	SCN1A_ENST00000303395.4_Nonsense_Mutation_p.G656*|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.G656*|SCN1A_ENST00000409050.1_Intron	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	656						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)	ACTGAAGGTCCACCAACCAAG	0.478000													6	75					8.12818e-05	8.40193e-05	0.001984	1	0
MAP4K1	11184	broad.mit.edu	37	19	39103253	39103253	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:39103253G>A	ENST00000591517.1	-	9	691	c.663C>T	c.(661-663)ctC>ctT	p.L221L	MAP4K1_ENST00000589130.1_Silent_p.L217L|MAP4K1_ENST00000396857.2_Silent_p.L221L|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000586296.1_Silent_p.L221L	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	221	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTGCCTACCTGAGAGGGTGCA	0.607000													13	23					0	0	0.001855	0	0
FCAR	2204	broad.mit.edu	37	19	55401037	55401037	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:55401037G>A	ENST00000391723.3	+	4	562	c.562G>A	c.(562-564)Gac>Aac	p.D188N	FCAR_ENST00000345937.4_Silent_p.T128T|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391725.3_Silent_p.T202T|FCAR_ENST00000391726.3_Silent_p.T116T|FCAR_ENST00000353758.4_Silent_p.T115T|FCAR_ENST00000391724.3_Silent_p.T190T|FCAR_ENST00000355524.3_Silent_p.T224T|FCAR_ENST00000359272.4_Silent_p.T212T	NM_133274.2	NP_579808.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	0	Ig-like C2-type 2.				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)		AAGATTACACGACGCAGAACT	0.532000													102	303					0	0	0.003610	0	0
DENND4B	9909	broad.mit.edu	37	1	153911479	153911479	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:153911479G>C	ENST00000361217.4	-	13	2280	c.1862C>G	c.(1861-1863)tCt>tGt	p.S621C		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	621	dDENN.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGCAGCTGAGAGTAAAGTTT	0.537000													4	17					0	0	0.009096	0	0
RNF17	56163	broad.mit.edu	37	13	25348972	25348972	+	Silent	SNP	A	A	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:25348972A>C	ENST00000255324.5	+	3	299	c.247A>C	c.(247-249)Aga>Cga	p.R83R	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Silent_p.R83R|RNF17_ENST00000255325.5_Silent_p.R83R	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	83					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)		TGTAAATACTAGACAACGCTA	0.348000													16	27					0	0	0.004990	0	0
OPA3	80207	broad.mit.edu	37	19	46056955	46056955	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:46056955C>G	ENST00000263275.4	-	2	411	c.357G>C	c.(355-357)tgG>tgC	p.W119C	OPA3_ENST00000323060.3_Intron|OPA3_ENST00000544371.1_Missense_Mutation_p.W66C	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	119					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		GCAGCGCGTTCCAGGCAGCAC	0.716000													6	20					0	0	0.001984	0	0
NACA	4666	broad.mit.edu	37	12	57112997	57112997	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57112997C>A	ENST00000454682.1	-	3	2598	c.2317G>T	c.(2317-2319)Gag>Tag	p.E773*	NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CCAGAGTCCTCAGTTGGGCAC	0.493000			T	BCL6	NHL								9	16					0.000442599	0.000456323	0.006214	1	0
PCDHB2	56133	broad.mit.edu	37	5	140475302	140475302	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:140475302G>C	ENST00000194155.4	+	1	1076	c.928G>C	c.(928-930)Gat>Cat	p.D310H		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		310	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)			ACAGAAACTGGATTTCGAATC	0.408000													16	49					0	0	0.004007	0	0
NACA	4666	broad.mit.edu	37	12	57110480	57110480	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57110480C>T	ENST00000454682.1	-	3	5115	c.4834G>A	c.(4834-4836)Gag>Aag	p.E1612K	NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GTAGGTGCCTCTTTGGGGGAA	0.607000			T	BCL6	NHL								10	23					0	0	0.008291	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725254	106725254	+	RNA	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:106725254G>T	ENST00000390609.2	-	0	376																											TTCATTTGCAGATACAGCGTG	0.522000													49	399					7.84493e-40	8.71902e-40	0.003610	1	0
IRF1	3659	broad.mit.edu	37	5	131825145	131825145	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:131825145C>T	ENST00000245414.4	-	2	284	c.26G>A	c.(25-27)aGa>aAa	p.R9K	IRF1_ENST00000463784.1_Intron|IRF1_ENST00000405885.2_Missense_Mutation_p.R9K	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	9					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TAGCCAGGGTCTCATGCGCAT	0.493000													18	54					0	0	0.008871	0	0
SYT14	255928	broad.mit.edu	37	1	210334216	210334216	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:210334216G>A	ENST00000537238.1	+	9	1774	c.1383G>A	c.(1381-1383)gtG>gtA	p.V461V	SYT14_ENST00000472886.1_Silent_p.V499V|SYT14_ENST00000367015.1_Silent_p.V461V|SYT14_ENST00000534859.1_Silent_p.V525V|SYT14_ENST00000422431.1_Silent_p.V563V|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367019.1_Silent_p.V518V|SYT14_ENST00000399639.2_3'UTR	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	499	C2 2.					integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TTTCTGATGTGACACTCATAC	0.418000													17	77					0	0	0.006122	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681481	44681481	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:44681481C>T	ENST00000381176.4	-	4	558	c.426G>A	c.(424-426)atG>atA	p.M142I		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	142						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				GGTCCTGTTTCATCCATCGTC	0.652000													36	95					0	0	0.003271	0	0
UNC79	57578	broad.mit.edu	37	14	94041424	94041424	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:94041424C>G	ENST00000553484.1	+	17	2245	c.2091C>G	c.(2089-2091)atC>atG	p.I697M	UNC79_ENST00000555664.1_Missense_Mutation_p.I697M|UNC79_ENST00000256339.4_Missense_Mutation_p.I520M|UNC79_ENST00000393151.2_Missense_Mutation_p.I697M			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	697						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						AGTTAGATATCATGGTTCCAC	0.328000													9	20					0	0	0.004482	0	0
EFHB	151651	broad.mit.edu	37	3	19924047	19924047	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:19924047C>G	ENST00000295824.9	-	12	2484	c.2323G>C	c.(2323-2325)Gaa>Caa	p.E775Q	EFHB_ENST00000344838.4_Missense_Mutation_p.E645Q	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	775					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TATACCTCTTCTTTTGATCTG	0.299000													3	9					0	0	0.004672	0	0
HENMT1	113802	broad.mit.edu	37	1	109191450	109191450	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:109191450G>C	ENST00000370032.5	-	8	1340	c.920C>G	c.(919-921)tCa>tGa	p.S307*	HENMT1_ENST00000370031.1_Nonsense_Mutation_p.S338*|HENMT1_ENST00000402983.1_Nonsense_Mutation_p.S307*	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	307					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity	p.G306_P310delGSKAP(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						AGGGGCCTTTGAGCCACCAAT	0.517000													9	56					0	0	0.006214	0	0
LTBR	4055	broad.mit.edu	37	12	6499994	6499994	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:6499994C>G	ENST00000228918.4	+	10	1525	c.1199C>G	c.(1198-1200)tCt>tGt	p.S400C	LTBR_ENST00000539925.1_Missense_Mutation_p.S381C|LTBR_ENST00000541102.1_Missense_Mutation_p.S257C	NM_002342.1	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	400					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CCCGGGCTCTCTACACCCCAC	0.632000													56	123					0	0	0.003610	0	0
NRXN3	9369	broad.mit.edu	37	14	79432618	79432618	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:79432618G>A	ENST00000554719.1	+	9	2018	c.1527G>A	c.(1525-1527)ctG>ctA	p.L509L	NRXN3_ENST00000335750.5_Silent_p.L509L	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCAGCTACCTGAGCCTTGCCA	0.483000													17	81					0	0	0.007413	0	0
SMCO3	440087	broad.mit.edu	37	12	14959195	14959195	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:14959195G>A	ENST00000316048.2	-	2	492	c.420C>T	c.(418-420)gtC>gtT	p.V140V	C12orf60_ENST00000330828.2_Intron|C12orf60_ENST00000527783.1_Intron	NM_001013698.2	NP_001013720.2			single-pass membrane protein with coiled-coil domains 3																		TGCCAGTTGTGACATTTGAGC	0.438000													5	110					0	0	0.001168	0	0
KLRC3	3823	broad.mit.edu	37	12	10570960	10570960	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:10570960C>G	ENST00000396439.2	-	4	513	c.469G>C	c.(469-471)Gat>Cat	p.D157H	KLRC3_ENST00000381903.2_Missense_Mutation_p.D157H|KLRC3_ENST00000381904.2_Missense_Mutation_p.D157H|NKG2-E_ENST00000539033.1_Missense_Mutation_p.D157H	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3											large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TCTTCATTATCTATACAAAGC	0.323000													29	84					0	0	0.002836	0	0
USP35	57558	broad.mit.edu	37	11	77920693	77920693	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:77920693C>G	ENST00000529308.1	+	10	2053	c.1792C>G	c.(1792-1794)Ctc>Gtc	p.L598V	USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.L329V|USP35_ENST00000441408.2_Missense_Mutation_p.L184V|USP35_ENST00000530267.1_Missense_Mutation_p.L166V	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	598					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GGACCTCTCTCTCGCCTTCCC	0.622000													10	132					0	0	0.006214	0	0
NUDT19	390916	broad.mit.edu	37	19	33183199	33183199	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:33183199G>A	ENST00000397061.3	+	1	333	c.333G>A	c.(331-333)aaG>aaA	p.K111K		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	111	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					ATGACCACAAGACCGACAACA	0.716000													13	27					0	0	0.003163	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41738568	41738568	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:41738568C>T	ENST00000352645.4	+	12	1490	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	ZC3H7B_ENST00000351589.4_Silent_p.I411I	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	427					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCTTGCTCATCAAGAACCCCT	0.602000													4	47					0	0	0.009096	0	0
CAPG	822	broad.mit.edu	37	2	85628366	85628366	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:85628366C>T	ENST00000263867.4	-	5	687	c.438G>A	c.(436-438)aaG>aaA	p.K146K	CAPG_ENST00000483659.1_5'UTR|CAPG_ENST00000409724.1_Silent_p.K146K|CAPG_ENST00000409921.1_Silent_p.K146K|CAPG_ENST00000409670.1_Silent_p.K146K	NM_001256140.1|NM_001747.3	NP_001243069.1|NP_001738.2	P40121	CAPG_HUMAN	capping protein (actin filament), gelsolin-like	146					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						CACGGATGTTCTTCTTCCCCT	0.592000													34	96					0	0	0.004878	0	0
MALAT1	378938	broad.mit.edu	37	11	65272344	65272344	+	RNA	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:65272344G>A	ENST00000534336.1	+	0	7112					NR_002819.2																						GACCCAGTAAGAAAAAATAGC	0.418000													9	27					0	0	0.006214	0	0
MKNK1	8569	broad.mit.edu	37	1	47046281	47046281	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:47046281G>A	ENST00000371946.4	-	4	318	c.155C>T	c.(154-156)tCt>tTt	p.S52F	MKNK1_ENST00000465783.1_Missense_Mutation_p.S52F|MKNK1_ENST00000341183.5_Missense_Mutation_p.S52F|MKNK1_ENST00000428112.2_Missense_Mutation_p.S52F|MKNK1_ENST00000371944.4_5'UTR|MKNK1_ENST00000545730.1_Missense_Mutation_p.S52F|MKNK1_ENST00000371945.4_Missense_Mutation_p.S52F	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	52	Protein kinase.				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					AAGCAATTCAGAGGTCAGCTT	0.478000													22	41					0	0	0.003330	0	0
TAS1R3	83756	broad.mit.edu	37	1	1268701	1268701	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:1268701C>G	ENST00000339381.5	+	5	1574	c.1542C>G	c.(1540-1542)ttC>ttG	p.F514L		NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	514					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	TCAAGGGGTTCCACTCCTGCT	0.711000													4	8					0	0	0.009096	0	0
RUNX1	861	broad.mit.edu	37	21	36171681	36171681	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:36171681G>A	ENST00000344691.4	-	5	2380	c.803C>T	c.(802-804)tCt>tTt	p.S268F	RUNX1_ENST00000325074.5_Missense_Mutation_p.S283F|RUNX1_ENST00000300305.3_Missense_Mutation_p.S295F|RUNX1_ENST00000437180.1_Missense_Mutation_p.S295F|RUNX1_ENST00000399240.1_Missense_Mutation_p.S204F	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	268	Pro/Ser/Thr-rich.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TGGGTGCACAGAAGGAGAGGC	0.522000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								7	79					0	0	0.001984	0	0
PRKAR2A	5576	broad.mit.edu	37	3	48789027	48789027	+	Silent	SNP	G	G	A	rs143784793	byFrequency	TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:48789027G>A	ENST00000265563.8	-	11	1455	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	PRKAR2A_ENST00000296446.8_Silent_p.L380L|PRKAR2A_ENST00000454963.1_Silent_p.L402L	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	402					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		CCTACTGCCCGAGGTTGCCCA	0.522000													13	14					0	0	0.001368	0	0
PRSS3	5646	broad.mit.edu	37	9	33796723	33796723	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:33796723G>A	ENST00000361005.5	+	2	294	c.294G>A	c.(292-294)ctG>ctA	p.L98L	PRSS3_ENST00000429677.3_Silent_p.L34L|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_Silent_p.L55L|PRSS3_ENST00000379405.3_Silent_p.L41L	NM_007343.3	NP_031369.2	P35030	TRY3_HUMAN	protease, serine, 3	98	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			AGGTGTCCCTGAATTCTGGCT	0.547000													7	178					0	0	0.006122	0	0
ANKZF1	55139	broad.mit.edu	37	2	220101166	220101166	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:220101166G>A	ENST00000323348.5	+	14	2354	c.2180G>A	c.(2179-2181)tGa>tAa	p.*727*	ANKZF1_ENST00000409849.1_Silent_p.*517*|ANKZF1_ENST00000410034.3_Silent_p.*727*	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	0						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTCTTCCTGATCTCTTACA	0.557000													12	38					0	0	0.001855	0	0
CRTC3	64784	broad.mit.edu	37	15	91161162	91161162	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:91161162C>T	ENST00000420329.2	+	8	808	c.661C>T	c.(661-663)Ccg>Tcg	p.P221S	CRTC3_ENST00000268184.6_Missense_Mutation_p.P221S	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	221					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GTTAAATGTTCCGAAGCCACT	0.438000			T	MAML2	salivary gland mucoepidermoid								12	47					0	0	0.001368	0	0
RSPH10B	222967	broad.mit.edu	37	7	5967846	5967846	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:5967846C>T	ENST00000405415.1	-	19	2799	c.2413G>A	c.(2413-2415)Gat>Aat	p.D805N	RSPH10B_ENST00000404406.1_Missense_Mutation_p.D805N|RSPH10B_ENST00000441023.2_Missense_Mutation_p.D805N|RSPH10B_ENST00000535104.1_5'UTR|RSPH10B_ENST00000539903.1_3'UTR|RSPH10B_ENST00000337579.3_Missense_Mutation_p.D805N			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	805										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		AGTTCGTCATCTTCCATCTTC	0.522000													46	253					0	0	0.003610	0	0
CABP1	9478	broad.mit.edu	37	12	121093905	121093905	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:121093905G>C	ENST00000453000.1	+	1	804	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	CABP1_ENST00000351200.2_Intron|CABP1_ENST00000316803.3_Intron|CABP1_ENST00000288616.3_Missense_Mutation_p.E19Q			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	0	Pro-rich.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GATGTGCCAGGAGGAACAGAC	0.652000													9	35					0	0	0.004482	0	0
WDR35	57539	broad.mit.edu	37	2	20130165	20130165	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:20130165A>G	ENST00000345530.3	-	26	3261	c.3146T>C	c.(3145-3147)cTg>cCg	p.L1049P	WDR35_ENST00000281405.4_Missense_Mutation_p.L1038P|WDR35_ENST00000416055.2_Missense_Mutation_p.L522P	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1049										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTGTCTTCAGTGCAGTGTC	0.438000													18	174					0	0	0.010818	0	0
MALAT1	378938	broad.mit.edu	37	11	65272459	65272459	+	RNA	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:65272459G>A	ENST00000534336.1	+	0	7227					NR_002819.2																						GCTTCCAGTTGAATTCACCAG	0.343000													8	18					0	0	0.003080	0	0
SARDH	1757	broad.mit.edu	37	9	136596561	136596561	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:136596561C>G	ENST00000371872.4	-	4	813	c.556G>C	c.(556-558)Gag>Cag	p.E186Q	SARDH_ENST00000298628.5_Missense_Mutation_p.E186Q|SARDH_ENST00000439388.1_Missense_Mutation_p.E186Q|SARDH_ENST00000371867.1_Missense_Mutation_p.E97Q|SARDH_ENST00000422262.2_Missense_Mutation_p.E18Q	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	186					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GTCTTGGTCTCTGCCGGGCTC	0.627000													7	71					0	0	0.001984	0	0
DNA2	1763	broad.mit.edu	37	10	70231756	70231756	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr10:70231756G>A	ENST00000399180.2	-	1	123	c.124C>T	c.(124-126)Cat>Tat	p.H42Y	DNA2_ENST00000399179.2_5'UTR			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	0					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TGTCCCAAATGACCTGCGCCA	0.657000													17	20					0	0	0.004990	0	0
TMEM44	93109	broad.mit.edu	37	3	194309351	194309351	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:194309351C>G	ENST00000381975.3	-	10	1255	c.1190G>C	c.(1189-1191)tGa>tCa	p.*397S	TMEM44-AS1_ENST00000419571.1_RNA|TMEM44_ENST00000392432.2_Silent_p.V445V|TMEM44_ENST00000476750.1_5'UTR|TMEM44_ENST00000347147.4_Silent_p.V398V|TMEM44_ENST00000473092.1_Silent_p.V408V|TMEM44-AS1_ENST00000453671.1_RNA|TMEM44-AS1_ENST00000447982.1_RNA|TMEM44_ENST00000273580.7_Silent_p.V409V			Q2T9K0	TMM44_HUMAN	transmembrane protein 44	0						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CTTCGAGGTTCACATCTTCAG	0.498000													10	235					0	0	0.008291	0	0
ABAT	18	broad.mit.edu	37	16	8875251	8875251	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:8875251C>A	ENST00000569156.1	+	16	1783	c.1526C>A	c.(1525-1527)tCa>tAa	p.S509*	ABAT_ENST00000268251.8_Silent_p.L489L|ABAT_ENST00000567812.1_Silent_p.L504L|TMEM186_ENST00000564869.1_5'UTR|ABAT_ENST00000425191.2_Silent_p.L489L|ABAT_ENST00000396600.2_Silent_p.L489L			P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	0					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	ACCTGTTCCTCAATATTTTCA	0.478000													20	53					5.03518e-11	5.40791e-11	0.007413	1	0
RALGDS	5900	broad.mit.edu	37	9	135985044	135985044	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:135985044C>T	ENST00000393160.3	-	4	741	c.388G>A	c.(388-390)Gag>Aag	p.E130K	RALGDS_ENST00000372047.3_Missense_Mutation_p.E173K|RALGDS_ENST00000372062.3_Missense_Mutation_p.E156K|RALGDS_ENST00000542690.1_Missense_Mutation_p.E256K|RALGDS_ENST00000372050.3_Missense_Mutation_p.E185K|RALGDS_ENST00000393157.3_Missense_Mutation_p.E184K	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	185	N-terminal Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CCACCATCCTCGTCGGAATAG	0.557000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								18	61					0	0	0.008871	0	0
SLC16A14	151473	broad.mit.edu	37	2	230902183	230902183	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:230902183C>G	ENST00000295190.4	-	5	1904	c.1446G>C	c.(1444-1446)atG>atC	p.M482I		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	482						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GTATTCCTATCATGTAAAGCA	0.328000													6	31					0	0	0.001984	0	0
CRELD1	78987	broad.mit.edu	37	3	9979762	9979762	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:9979762C>T	ENST00000383811.3	+	4	1031	c.432C>T	c.(430-432)ccC>ccT	p.P144P	CRELD1_ENST00000326434.5_Silent_p.P144P|CRELD1_ENST00000397170.3_Silent_p.P144P|CRELD1_ENST00000452070.1_Silent_p.P144P	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	144					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						TCTGCTGCCCCGCAGGCACCT	0.652000													5	20					0	0	0.000602	0	0
TRIP11	9321	broad.mit.edu	37	14	92470587	92470587	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92470587C>G	ENST00000267622.4	-	11	4106	c.3733G>C	c.(3733-3735)Gag>Cag	p.E1245Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1245					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TGGTGAAGCTCTTCCTGAAGC	0.408000			T	PDGFRB	AML								8	39					0	0	0.003080	0	0
LRRC66	339977	broad.mit.edu	37	4	52861814	52861814	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:52861814G>C	ENST00000343457.3	-	4	1380	c.1374C>G	c.(1372-1374)ttC>ttG	p.F458L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	458						integral to membrane		p.F458L(2)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GTGTCACCCAGAAAGGGGTCT	0.562000													26	72					0	0	0.003330	0	0
RSRC1	51319	broad.mit.edu	37	3	157920866	157920866	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:157920866G>A	ENST00000295930.3	+	4	488	c.326G>A	c.(325-327)aGg>aAg	p.R109K	RSRC1_ENST00000480820.1_Missense_Mutation_p.R109K|RSRC1_ENST00000475278.2_Missense_Mutation_p.R109K|RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000312179.6_Intron	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	109	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			TGTAGGTCCAGGTCAAGACCT	0.393000													4	45					0	0	0.009096	0	0
BICD2	23299	broad.mit.edu	37	9	95481630	95481630	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:95481630C>G	ENST00000356884.6	-	5	1364	c.1297G>C	c.(1297-1299)Gag>Cag	p.E433Q	BICD2_ENST00000375512.3_Missense_Mutation_p.E433Q	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	433					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCCAAGATCTCAGGCCCGTTG	0.637000													6	56					0	0	0.001984	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450679	85450679	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:85450679C>G	ENST00000393217.2	+	8	2169	c.2108C>G	c.(2107-2109)tCt>tGt	p.S703C		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	703										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAAGTCAACTCTCTTAAATCT	0.373000													46	119					0	0	0.009718	0	0
NKTR	4820	broad.mit.edu	37	3	42680839	42680839	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:42680839G>C	ENST00000232978.8	+	13	3831	c.3643G>C	c.(3643-3645)Gag>Cag	p.E1215Q	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1215					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GGAGGTGGCTGAGAAGAGCCA	0.527000													21	43					0	0	0.012319	0	0
CECR2	27443	broad.mit.edu	37	22	17956654	17956654	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:17956654G>C	ENST00000262608.8	+	1	28	c.28G>C	c.(28-30)Gat>Cat	p.D10H	CECR2_ENST00000497534.1_3'UTR|CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000342247.5_Missense_Mutation_p.D9H|CECR2_ENST00000400573.4_Missense_Mutation_p.D29H	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	51					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)		TCTTCACAGAGATGACGTGGA	0.463000													22	57					0	0	0.003330	0	0
FLG	2312	broad.mit.edu	37	1	152283989	152283989	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:152283989C>T	ENST00000368799.1	-	3	3408	c.3373G>A	c.(3373-3375)Gaa>Aaa	p.E1125K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1125	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)			TCAGACTGTTCATGAGTGCTC	0.607000									Ichthyosis				124	299					0	0	0.003610	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27834486	27834486	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:27834486G>C	ENST00000318304.8	+	21	2204	c.1921G>C	c.(1921-1923)Gat>Cat	p.D641H	PPFIBP1_ENST00000537927.1_Missense_Mutation_p.D488H|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.D610H|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.D635H	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	641					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TAGTGACTTGGATATGCCATT	0.418000													11	103					0	0	0.001368	0	0
FSCN3	29999	broad.mit.edu	37	7	127236417	127236417	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:127236417C>T	ENST00000265825.5	+	3	1096	c.877C>T	c.(877-879)Cga>Tga	p.R293*	FSCN3_ENST00000420086.2_Nonsense_Mutation_p.R159*	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	293						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GCGCTTAAACCGAATGTCCTT	0.537000													44	86					0	0	0.003610	0	0
HMGB2	3148	broad.mit.edu	37	4	174254786	174254786	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:174254786G>A	ENST00000296503.5	-	2	888	c.15C>T	c.(13-15)gaC>gaT	p.D5D	HMGB2_ENST00000446922.2_Silent_p.D5D|HMGB2_ENST00000438704.2_Silent_p.D5D			P26583	HMGB2_HUMAN	high mobility group box 2	5					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GCTTGTTGGGGTCTCCTTTAC	0.642000													4	64					0	0	0.009096	0	0
DIS3L2	129563	broad.mit.edu	37	2	233001212	233001212	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:233001212C>G	ENST00000325385.7	+	8	1009	c.733C>G	c.(733-735)Cga>Gga	p.R245G	DIS3L2_ENST00000409307.1_Missense_Mutation_p.R245G|DIS3L2_ENST00000360410.4_Silent_p.L264L|DIS3L2_ENST00000273009.6_Missense_Mutation_p.R245G	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	245							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AAAACATTCTCGAGCAGCAAC	0.433000													21	85					0	0	0.002780	0	0
PDE3A	5139	broad.mit.edu	37	12	20799804	20799804	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:20799804C>A	ENST00000359062.3	+	12	2525	c.2485C>A	c.(2485-2487)Ctg>Atg	p.L829M	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	829	Catalytic (By similarity).				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)	GTTGATGGCGCTGTATGTGGC	0.428000													33	126					1.62565e-12	1.7602e-12	0.012213	1	0
TRIM39	56658	broad.mit.edu	37	6	30297129	30297129	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:30297129C>T	ENST00000376659.5	+	3	633	c.35C>T	c.(34-36)tCt>tTt	p.S12F	TRIM39_ENST00000396551.3_Missense_Mutation_p.S12F|TRIM39_ENST00000396548.1_Missense_Mutation_p.S12F|TRIM39_ENST00000396547.1_Missense_Mutation_p.S12F|TRIM39_ENST00000376656.4_Missense_Mutation_p.S12F|TRIM39_ENST00000540416.1_Missense_Mutation_p.S12F	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						GCTGGGGCCTCTGCAGCCTCT	0.473000													50	149					0	0	0.003610	0	0
CCDC180	100499483	broad.mit.edu	37	9	100056386	100056386	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:100056386G>A	ENST00000357054.1	+	13	1179	c.244G>A	c.(244-246)Gac>Aac	p.D82N	CCDC180_ENST00000375202.2_5'UTR|CCDC180_ENST00000395220.1_Missense_Mutation_p.D82N|RP11-23J9.5_ENST00000375204.2_RNA|CCDC180_ENST00000411667.2_5'UTR|CCDC180_ENST00000375205.2_Missense_Mutation_p.D122N|RP11-23J9.4_ENST00000534123.1_RNA					coiled-coil domain containing 180																		TGAGGGAGCAGACATGGGTAA	0.607000													21	50					0	0	0.008871	0	0
TRIP11	9321	broad.mit.edu	37	14	92470328	92470328	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92470328C>G	ENST00000267622.4	-	11	4365	c.3992G>C	c.(3991-3993)aGa>aCa	p.R1331T		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1331					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTACTTGCTCTAAGACACTC	0.383000			T	PDGFRB	AML								9	57					0	0	0.006214	0	0
BEST3	144453	broad.mit.edu	37	12	70049452	70049452	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:70049452C>G	ENST00000330891.5	-	10	1468	c.1242G>C	c.(1240-1242)agG>agC	p.R414S	BEST3_ENST00000553096.1_Missense_Mutation_p.R308S|BEST3_ENST00000488961.1_Missense_Mutation_p.R201S|BEST3_ENST00000331471.4_Intron	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	414						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TTGTCTGCCTCCTGTAGCTTC	0.562000													25	114					0	0	0.004656	0	0
NPTX2	4885	broad.mit.edu	37	7	98256620	98256620	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:98256620C>G	ENST00000265634.3	+	4	1197	c.1032C>G	c.(1030-1032)atC>atG	p.I344M		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	344	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GGCACCCCATCAAGCCCGGGG	0.662000													16	40					0	0	0.007413	0	0
AKAP4	8852	broad.mit.edu	37	X	49958507	49958507	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:49958507A>G	ENST00000376056.2	-	5	980	c.830T>C	c.(829-831)aTg>aCg	p.M277T	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.M277T|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Missense_Mutation_p.M286T			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	286					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)					AGTGCCACGCATTTCTGCAGC	0.498000													15	21					0	0	0.003163	0	0
NPLOC4	55666	broad.mit.edu	37	17	79563226	79563226	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:79563226C>G	ENST00000374747.5	-	11	1165	c.1036G>C	c.(1036-1038)Gac>Cac	p.D346H	NPLOC4_ENST00000539314.1_Missense_Mutation_p.D185H|NPLOC4_ENST00000331134.6_Missense_Mutation_p.D346H			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	346					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TTCTGGAAGTCTCCTGCAGTG	0.443000													24	59					0	0	0.003330	0	0
CACNA1G	8913	broad.mit.edu	37	17	48683370	48683370	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:48683370G>C	ENST00000352832.5	+	22	4711	c.4339G>C	c.(4339-4341)Gac>Cac	p.D1447H	CACNA1G_ENST00000442258.2_Missense_Mutation_p.D1447H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.D1447H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.D1470H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D1447H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.D1447H|CACNA1G_ENST00000359106.5_Missense_Mutation_p.D1470H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.D1470H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000416767.4_Missense_Mutation_p.D1470H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.D1470H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.D1447H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.D1447H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.D1447H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.D1470H	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1470					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTACAACTTTGACAACCTTGG	0.587000													21	61					0	0	0.002299	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169684718	169684718	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:169684718C>T	ENST00000444448.2	+	6	724	c.248C>T	c.(247-249)gCg>gTg	p.A83V	NOSTRIN_ENST00000458381.2_Missense_Mutation_p.A83V|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.A55V|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.A5V|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.A55V|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.A83V|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.A5V			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	83					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AAATCCACAGCGGACCTGCAT	0.463000													14	48					0	0	0.003163	0	0
NKTR	4820	broad.mit.edu	37	3	42680982	42680982	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:42680982G>C	ENST00000232978.8	+	13	3974	c.3786G>C	c.(3784-3786)ttG>ttC	p.L1262F	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1262					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CACAAGGCTTGAGAATAGAAA	0.453000													27	42					0	0	0.004656	0	0
CACNG4	27092	broad.mit.edu	37	17	65026887	65026887	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:65026887G>A	ENST00000262138.3	+	4	753	c.751G>A	c.(751-753)Gag>Aag	p.E251K		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	251					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			AAGGTCCACCGAGGCCTCGCC	0.632000													24	58					0	0	0.003330	0	0
ZNF572	137209	broad.mit.edu	37	8	125989717	125989717	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:125989717C>T	ENST00000319286.5	+	3	1361	c.1207C>T	c.(1207-1209)Cag>Tag	p.Q403*		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CATTAGACATCAGAGAACACA	0.423000										HNSCC(60;0.17)			10	56					0	0	0.006214	0	0
SVEP1	79987	broad.mit.edu	37	9	113169862	113169862	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:113169862G>A	ENST00000401783.2	-	38	8354	c.8018C>T	c.(8017-8019)tCa>tTa	p.S2673L	SVEP1_ENST00000297826.5_Missense_Mutation_p.S599L|SVEP1_ENST00000374469.1_Missense_Mutation_p.S2650L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2673	Sushi 21.				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						CAGAAAGTTTGATGAATGTGT	0.443000													55	167					0	0	0.003610	0	0
ALKBH3	221120	broad.mit.edu	37	11	43911373	43911373	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:43911373G>C	ENST00000302708.4	+	6	776	c.365G>C	c.(364-366)aGa>aCa	p.R122T	ALKBH3_ENST00000532410.1_3'UTR|ALKBH3_ENST00000378840.4_Missense_Mutation_p.R121T	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	122					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	ACTGGCATCAGAGAGGGTAAG	0.478000								Direct reversal of damage					11	31					0	0	0.010729	0	0
OR10G4	390264	broad.mit.edu	37	11	123886938	123886938	+	Silent	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:123886938C>A	ENST00000320891.4	+	1	657	c.657C>A	c.(655-657)tcC>tcA	p.S219S		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		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;0.0401)		CCTATGTGTCCATCGTCTGTT	0.542000													36	60					5.8336e-16	6.36828e-16	0.003271	1	0
LIMK1	3984	broad.mit.edu	37	7	73521420	73521420	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:73521420C>G	ENST00000418310.1	+	8	1154	c.1052C>G	c.(1051-1053)tCt>tGt	p.S351C	LIMK1_ENST00000538333.3_Missense_Mutation_p.S287C|LIMK1_ENST00000336180.2_Missense_Mutation_p.S321C			P53667	LIMK1_HUMAN	LIM domain kinase 1	321	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				CTGGGTCGCTCTGAGTCCCTC	0.697000													3	18					0	0	0.004672	0	0
MCL1	4170	broad.mit.edu	37	1	150551469	150551469	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:150551469C>T	ENST00000369026.2	-	1	597	c.538G>A	c.(538-540)Gag>Aag	p.E180K	MCL1_ENST00000307940.3_Missense_Mutation_p.E180K	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 (BCL2-related)	180					anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GAGATAATCTCCAGCGACTGC	0.627000													25	59					0	0	0.003954	0	0
ADD2	119	broad.mit.edu	37	2	70900406	70900406	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:70900406G>A	ENST00000355733.3	-	15	2238	c.1794C>T	c.(1792-1794)ttC>ttT	p.F598F	ADD2_ENST00000264436.3_Intron|ADD2_ENST00000407644.2_Intron	NM_017488.3	NP_059522.1	P35612	ADDB_HUMAN	adducin 2 (beta)	0					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						GGGCAACGCTGAAGAACTCGC	0.542000													12	43					0	0	0.001368	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627818	43627818	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:43627818G>A	ENST00000332857.6	-	4	897	c.869C>T	c.(868-870)tCg>tTg	p.S290L	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		AAAGGCGCACGAGGTTCTGGC	0.552000													83	82					0	0	0.003610	0	0
TMEM45B	120224	broad.mit.edu	37	11	129724648	129724648	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:129724648C>G	ENST00000281441.3	+	3	410	c.322C>G	c.(322-324)Ctg>Gtg	p.L108V	TMEM45B_ENST00000524567.1_Missense_Mutation_p.L108V	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN	transmembrane protein 45B	108						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		GCTCACCTATCTGGTCAGCCA	0.483000													29	40					0	0	0.009535	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084205	26084205	+	RNA	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:26084205C>G	ENST00000478176.1	-	0	252					NR_003678.1																						TCTATTAACTCTTCCTTTGAA	0.393000													12	23					0	0	0.010729	0	0
MALAT1	378938	broad.mit.edu	37	11	65273081	65273081	+	RNA	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:65273081G>A	ENST00000534336.1	+	0	7849					NR_002819.2																						CCCTCACCTCGATGCAGCCAG	0.507000													23	87					0	0	0.012319	0	0
IL10RA	3587	broad.mit.edu	37	11	117860224	117860224	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:117860224G>A	ENST00000227752.3	+	3	376	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.V66M|IL10RA_ENST00000545409.1_Intron	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	86						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CCTTACCGCAGTGACCTTGGA	0.577000													28	37					0	0	0.006320	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101572517	101572517	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:101572517G>A	ENST00000326172.5	+	5	1262	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.E261K|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.E283K	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	383	Required for transcriptional activity (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CAGCGCCTGTGAGGCCATGGT	0.493000													21	124					0	0	0.002780	0	0
RRP1B	23076	broad.mit.edu	37	21	45104516	45104516	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:45104516C>G	ENST00000340648.4	+	10	1091	c.974C>G	c.(973-975)tCc>tGc	p.S325C		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	325					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		AAGCGCCTCTCCAAACTCATC	0.488000													4	44					0	0	0.009096	0	0
S100A16	140576	broad.mit.edu	37	1	153580541	153580541	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:153580541G>C	ENST00000368704.1	-	2	272	c.87C>G	c.(85-87)gtC>gtG	p.V29V	S100A16_ENST00000368703.2_Silent_p.V29V|S100A16_ENST00000368705.2_Silent_p.V29V|S100A16_ENST00000474991.1_5'UTR|S100A16_ENST00000368706.4_Silent_p.V29V			Q96FQ6	S10AG_HUMAN	S100 calcium binding protein A16	29	EF-hand 1.					cytosol|nucleolus	calcium ion binding|protein homodimerization activity			breast(1)|large_intestine(1)|prostate(1)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCTTGTTCTTGACCAGGCTGT	0.532000													13	46					0	0	0.003163	0	0
KIAA1407	57577	broad.mit.edu	37	3	113753906	113753906	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:113753906C>G	ENST00000295878.3	-	6	830	c.684G>C	c.(682-684)caG>caC	p.Q228H	KIAA1407_ENST00000545063.1_Missense_Mutation_p.Q59H	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	228										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCACCAGACACTGAGCCTCCA	0.448000													21	120					0	0	0.010504	0	0
NACA	4666	broad.mit.edu	37	12	57110522	57110522	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57110522C>G	ENST00000454682.1	-	3	5073	c.4792G>C	c.(4792-4794)Gag>Cag	p.E1598Q	NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						ATGAGGAGCTCTTTGGGGGAT	0.597000			T	BCL6	NHL								5	27					0	0	0.001168	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33566371	33566371	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:33566371G>A	ENST00000321505.4	+	2	2121	c.1941G>A	c.(1939-1941)ctG>ctA	p.L647L	KIAA1549L_ENST00000265654.5_Silent_p.L653L|KIAA1549L_ENST00000389726.3_Silent_p.L653L					KIAA1549-like																		CATTGTTTCTGAGGAAATCAA	0.512000													8	17					0	0	0.003080	0	0
MALAT1	378938	broad.mit.edu	37	11	65272679	65272679	+	RNA	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:65272679G>A	ENST00000534336.1	+	0	7447					NR_002819.2																						TAAAGGCACCGAAGGCTTAAA	0.502000													14	40					0	0	0.001855	0	0
PLEKHO2	80301	broad.mit.edu	37	15	65152104	65152104	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:65152104C>G	ENST00000323544.4	+	4	419	c.291C>G	c.(289-291)atC>atG	p.I97M	AC069368.3_ENST00000437723.1_Missense_Mutation_p.I97M	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	97	PH.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCAGCGACATCAAATTCCAGG	0.488000													37	157					0	0	0.008740	0	0
UNC119	9094	broad.mit.edu	37	17	26879514	26879514	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:26879514G>A	ENST00000301032.4	-	1	135	c.62C>T	c.(61-63)tCg>tTg	p.S21L	UNC119_ENST00000335765.4_Missense_Mutation_p.S21L	NM_054035.2	NP_473376.1	Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)	21					phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction				breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					GCTCTGGCCCGAGGGCCCCGG	0.761000													3	9					0	0	0.004672	0	0
ZNF70	7621	broad.mit.edu	37	22	24086061	24086061	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:24086061G>A	ENST00000341976.3	-	2	1727	c.1267C>T	c.(1267-1269)Ctg>Ttg	p.L423L		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	423						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TTGCCGCACAGATTGCACACG	0.547000													59	119					0	0	0.003610	0	0
SMG9	56006	broad.mit.edu	37	19	44251656	44251656	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:44251656G>T	ENST00000601170.1	-	5	840	c.526C>A	c.(526-528)Cgc>Agc	p.R176S	SMG9_ENST00000270066.6_Missense_Mutation_p.R176S			Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	176					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						TGCTTCATGCGCTCTGGGGGC	0.572000													4	60					0.00909568	0.00929367	0.009096	1	0
CFP	5199	broad.mit.edu	37	X	47485839	47485839	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:47485839G>A	ENST00000247153.3	-	8	1261	c.1020C>T	c.(1018-1020)atC>atT	p.I340I	CFP_ENST00000396992.3_Silent_p.I340I|CFP_ENST00000377005.2_Silent_p.I340I	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	340	TSP type-1 5.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GCTGGCCCGGGATTTCTTGAC	0.617000													15	10					0	0	0.004007	0	0
BTBD1	53339	broad.mit.edu	37	15	83687528	83687528	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:83687528G>A	ENST00000379403.2	-	6	1132	c.1133C>T	c.(1132-1134)tCa>tTa	p.S378L	RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|BTBD1_ENST00000261721.4_Silent_p.F407F			Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	0						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		ACATGACCCTGAATGTGTTAG	0.418000													13	48					0	0	0.002450	0	0
TTL	150465	broad.mit.edu	37	2	113258824	113258824	+	Missense_Mutation	SNP	G	G	C	rs2943625		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:113258824G>C	ENST00000233336.5	+	4	702	c.511G>C	c.(511-513)Gat>Cat	p.D171H		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	171	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		AGAGCTTCTCGATTTCATAGA	0.458000			T	ETV6	ALL								9	50					0	0	0.010729	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22850972	22850972	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:22850972C>T	ENST00000283645.4	+	11	1364	c.1234C>T	c.(1234-1236)Ctg>Ttg	p.L412L	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Silent_p.L412L	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	412					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GCTCAAGGTTCTGCACAAAGT	0.448000													21	43					0	0	0.002299	0	0
LIN54	132660	broad.mit.edu	37	4	83858440	83858440	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:83858440G>A	ENST00000340417.3	-	9	1921	c.1544C>T	c.(1543-1545)tCa>tTa	p.S515L	LIN54_ENST00000506560.1_Missense_Mutation_p.S426L|LIN54_ENST00000505397.1_Missense_Mutation_p.S515L|LIN54_ENST00000446851.2_Missense_Mutation_p.S294L|LIN54_ENST00000442461.2_Missense_Mutation_p.S294L|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000395283.2_Missense_Mutation_p.S426L|LIN54_ENST00000510557.1_Missense_Mutation_p.S294L	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	515					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				GGCCGACTCTGATGGGATTAT	0.289000													13	54					0	0	0.001368	0	0
RFPL2	10739	broad.mit.edu	37	22	32587230	32587230	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:32587230C>T	ENST00000400236.3	-	5	1601	c.396G>A	c.(394-396)gaG>gaA	p.E132E	RFPL2_ENST00000248983.4_Silent_p.E132E|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248980.4_Silent_p.E161E|RFPL2_ENST00000400237.1_Silent_p.E222E	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	222							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CGTCAAATCTCTCGGCAAGGT	0.582000													8	95					0	0	0.003080	0	0
SPAG4	6676	broad.mit.edu	37	20	34206846	34206846	+	Splice_Site	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:34206846G>C	ENST00000374273.3	+	8	831	c.717_splice	c.e8-1	p.R240_splice		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	240					spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TCCTTGCAGAGAGTGGCCAAG	0.592000													14	57					0	0	0.002450	0	0
SSPN	8082	broad.mit.edu	37	12	26377309	26377309	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:26377309G>C	ENST00000242729.2	+	2	540	c.363G>C	c.(361-363)atG>atC	p.M121I	SSPN_ENST00000422622.2_Missense_Mutation_p.M18I|SSPN_ENST00000540266.1_Missense_Mutation_p.M18I|SSPN_ENST00000535504.1_Missense_Mutation_p.M121I|RP11-283G6.4_ENST00000540392.1_RNA	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	121					cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					AATTTTCTATGAAAGTAAGTT	0.373000													45	152					0	0	0.010771	0	0
YTHDC2	64848	broad.mit.edu	37	5	112851047	112851047	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:112851047C>T	ENST00000161863.4	+	2	479	c.266C>T	c.(265-267)tCt>tTt	p.S89F	YTHDC2_ENST00000515883.1_Missense_Mutation_p.S89F	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	89	R3H.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GGTTTGGTCTCTAAAAGTAAA	0.333000													15	63					0	0	0.003163	0	0
HGSNAT	138050	broad.mit.edu	37	8	43048965	43048965	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:43048965G>A	ENST00000458501.2	+	14	1527	c.1527G>A	c.(1525-1527)gtG>gtA	p.V509V	HGSNAT_ENST00000379644.4_Silent_p.V481V|HGSNAT_ENST00000297798.7_Silent_p.V213V|HGSNAT_ENST00000521576.1_Silent_p.V198V			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	509			V -> L (does not have any clinical significance; no loss of enzymatic activity).		lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			ACTCCATCGTGATGGCCTTTT	0.403000													24	62					0	0	0.003330	0	0
DDI2	84301	broad.mit.edu	37	1	15983119	15983119	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:15983119G>A	ENST00000480945.1	+	9	1362	c.1191G>A	c.(1189-1191)caG>caA	p.Q397Q		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	397					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CAGAGCGTCAGAAGCCATGAT	0.458000													39	93					0	0	0.007835	0	0
PIWIL2	55124	broad.mit.edu	37	8	22210625	22210625	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:22210625C>T	ENST00000356766.6	+	21	2705	c.2557C>T	c.(2557-2559)Cag>Tag	p.Q853*	PIWIL2_ENST00000521356.1_Nonsense_Mutation_p.Q853*|PIWIL2_ENST00000454009.2_Nonsense_Mutation_p.Q853*	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	853	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GTTTGTAGTTCAGAAGAAAAT	0.413000													33	68					0	0	0.002836	0	0
FRAS1	80144	broad.mit.edu	37	4	79455676	79455676	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:79455676C>T	ENST00000264895.6	+	71	11439	c.10999C>T	c.(10999-11001)Cag>Tag	p.Q3667*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3662					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CACTGAATTTCAGCTCTGCAA	0.418000													28	120					0	0	0.009535	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12918895	12918895	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:12918895G>C	ENST00000240189.2	+	2	118	c.31G>C	c.(31-33)Gag>Cag	p.E11Q		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	11										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)		GAGACTACTGGAGCTGGCGGG	0.557000													35	148					0	0	0.004289	0	0
NRROS	375387	broad.mit.edu	37	3	196386869	196386869	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:196386869G>A	ENST00000328557.4	+	3	558	c.355G>A	c.(355-357)Gag>Aag	p.E119K		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		CTGCCTCTCAGAGAACTACGA	0.672000													7	51					0	0	0.001984	0	0
STK11	6794	broad.mit.edu	37	19	1221279	1221279	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:1221279G>A	ENST00000326873.7	+	6	1975	c.802G>A	c.(802-804)Ggg>Agg	p.G268R		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	268	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)|p.Y246fs*3(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGAACATCGGGAAGGGGAG	0.607000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			5	8					0	0	0.000602	0	0
TMEM147	10430	broad.mit.edu	37	19	36037925	36037925	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:36037925C>T	ENST00000392204.2	+	4	604	c.276C>T	c.(274-276)atC>atT	p.I92I	TMEM147_ENST00000392205.1_Silent_p.I141I|TMEM147_ENST00000222284.5_Silent_p.I141I	NM_001242597.1	NP_001229526.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	141						endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACTCCAACATCAGTCTGGTAG	0.567000													19	93					0	0	0.007413	0	0
MPL	4352	broad.mit.edu	37	1	43812513	43812513	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:43812513C>G	ENST00000372470.3	+	8	1258	c.1216C>G	c.(1216-1218)Ctg>Gtg	p.L406V	MPL_ENST00000413998.2_Missense_Mutation_p.L406V	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	406	Fibronectin type-III 2.				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	p.L406V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAGTGGGCATCTGGAATTGGA	0.567000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						17	80					0	0	0.004007	0	0
OR2C3	81472	broad.mit.edu	37	1	247694956	247694956	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:247694956C>G	ENST00000366487.3	-	2	1219	c.858G>C	c.(856-858)ctG>ctC	p.L286L	GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TAAGTGGGTTCAGCGCAGGAG	0.547000													7	93					0	0	0.003080	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38162181	38162181	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:38162181G>A	ENST00000317025.8	-	14	3052	c.2535C>T	c.(2533-2535)ctC>ctT	p.L845L	WHSC1L1_ENST00000433384.2_Silent_p.L845L|WHSC1L1_ENST00000527502.1_Silent_p.L845L	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	845					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TACTACAGATGAGAATGTAGG	0.438000			T	NUP98	AML								17	94					0	0	0.004990	0	0
LIMK1	3984	broad.mit.edu	37	7	73520530	73520530	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:73520530C>T	ENST00000418310.1	+	7	1030	c.928C>T	c.(928-930)Ccc>Tcc	p.P310S	LIMK1_ENST00000538333.3_Missense_Mutation_p.P246S|LIMK1_ENST00000336180.2_Missense_Mutation_p.P280S			P53667	LIMK1_HUMAN	LIM domain kinase 1	280					actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				GGCTTATACTCCCAGCGGGGA	0.657000													36	176					0	0	0.003755	0	0
UNC5D	137970	broad.mit.edu	37	8	35616848	35616848	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:35616848C>G	ENST00000287272.2	+	13	1987	c.1967C>G	c.(1966-1968)tCa>tGa	p.S656*	UNC5D_ENST00000453357.2_Nonsense_Mutation_p.S720*|UNC5D_ENST00000416672.1_Nonsense_Mutation_p.S730*|UNC5D_ENST00000404895.2_Nonsense_Mutation_p.S725*|UNC5D_ENST00000449677.1_Nonsense_Mutation_p.S301*|UNC5D_ENST00000420357.1_Nonsense_Mutation_p.S658*			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	725					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GAAGTGGTTTCAGATGAAAGG	0.378000													22	68					0	0	0.010504	0	0
RTEL1	51750	broad.mit.edu	37	20	62298846	62298846	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:62298846G>C	ENST00000318100.4	+	8	1466	c.639G>C	c.(637-639)cgG>cgC	p.R213R	RTEL1_ENST00000370018.3_Silent_p.R213R|RTEL1_ENST00000360203.5_Silent_p.R213R|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.R213R|RTEL1_ENST00000508582.2_Silent_p.R237R			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	213	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			ACCTGTCCCGGAACCTGAAGC	0.572000													61	145					0	0	0.003610	0	0
SNAP91	9892	broad.mit.edu	37	6	84311158	84311158	+	Splice_Site	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:84311158C>G	ENST00000428679.2	-	16	1750		c.e16-1		SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000369694.2_Splice_Site|SNAP91_ENST00000521485.1_Splice_Site|SNAP91_ENST00000195649.6_Splice_Site|SNAP91_ENST00000520302.1_Splice_Site|SNAP91_ENST00000439399.2_Splice_Site|SNAP91_ENST00000521743.1_Splice_Site			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa						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)		GCCAAAGAATCTATATTTCAC	0.413000													5	40					0	0	0.000602	0	0
ABAT	18	broad.mit.edu	37	16	8873373	8873373	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:8873373G>A	ENST00000396600.2	+	15	2245	c.1307G>A	c.(1306-1308)cGa>cAa	p.R436Q	ABAT_ENST00000268251.8_Missense_Mutation_p.R436Q|ABAT_ENST00000567812.1_Missense_Mutation_p.R451Q|ABAT_ENST00000569156.1_Missense_Mutation_p.R436Q|ABAT_ENST00000425191.2_Missense_Mutation_p.R436Q	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	436					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GTGAGAGGACGAGGCACCTTT	0.532000													8	51					0	0	0.004482	0	0
CELSR2	1952	broad.mit.edu	37	1	109795615	109795615	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:109795615G>A	ENST00000271332.3	+	1	2975	c.2914G>A	c.(2914-2916)Gac>Aac	p.D972N		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	972	Cadherin 8.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTTTCAGCTGGACATCTTCTC	0.592000													28	76					0	0	0.006320	0	0
MCM2	4171	broad.mit.edu	37	3	127327234	127327234	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:127327234C>T	ENST00000265056.7	+	7	1355	c.1111C>T	c.(1111-1113)Cag>Tag	p.Q371*		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	371					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						GACCATCTATCAGAACTACCA	0.572000													68	229					0	0	0.003610	0	0
ZNF584	201514	broad.mit.edu	37	19	58921347	58921347	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:58921347G>C	ENST00000306910.4	+	2	581	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	ZNF584_ENST00000596281.1_Intron|ZNF584_ENST00000593920.1_Intron|ZNF584_ENST00000322834.7_Missense_Mutation_p.E12Q|ZNF584_ENST00000599238.1_Intron|ZNF584_ENST00000596921.1_Intron	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		GGTGATGTTTGAGGATGTGAC	0.498000													23	81					0	0	0.003330	0	0
CEP104	9731	broad.mit.edu	37	1	3756183	3756183	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:3756183C>G	ENST00000378230.3	-	7	1048	c.724G>C	c.(724-726)Gat>Cat	p.D242H		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	242						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TTTTGCAAATCAGCAATGGCT	0.348000													14	89					0	0	0.002450	0	0
ZNF816	125893	broad.mit.edu	37	19	53454424	53454424	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:53454424G>A	ENST00000357666.4	-	5	904	c.604C>T	c.(604-606)Cat>Tat	p.H202Y	ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.H202Y	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	202					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						TTAGAAATATGAGTTTTGAGC	0.368000													19	66					0	0	0.006122	0	0
SLC22A15	55356	broad.mit.edu	37	1	116577934	116577934	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:116577934G>A	ENST00000369503.4	+	7	1201	c.1071G>A	c.(1069-1071)ttG>ttA	p.L357L	SLC22A15_ENST00000481127.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	357					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GTATCTACTTGATTAACCAAA	0.438000													12	28					0	0	0.010729	0	0
PCMTD2	55251	broad.mit.edu	37	20	62904683	62904683	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:62904683G>C	ENST00000308824.6	+	6	943	c.816G>C	c.(814-816)aaG>aaC	p.K272N	PCMTD2_ENST00000266078.6_Missense_Mutation_p.K48N|PCMTD2_ENST00000369758.3_Missense_Mutation_p.K245N|PCMTD2_ENST00000299468.7_Intron	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	272						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACGGACTAAAGAACACCCCCA	0.493000													27	87					0	0	0.005443	0	0
OR6C6	283365	broad.mit.edu	37	12	55688558	55688558	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:55688558G>A	ENST00000358433.2	-	1	458	c.459C>T	c.(457-459)atC>atT	p.I153I		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGGGAAATATGATTAAGAATC	0.418000													8	49					0	0	0.003080	0	0
CDH24	64403	broad.mit.edu	37	14	23523752	23523752	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:23523752G>C	ENST00000397359.3	-	5	1006	c.747C>G	c.(745-747)ctC>ctG	p.L249L	CDH24_ENST00000554034.1_Silent_p.L249L|CDH24_ENST00000487137.2_Silent_p.L249L|CDH24_ENST00000267383.5_Silent_p.L249L	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	249	Cadherin 2.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TGACATCGCTGAGCGTGACAG	0.607000											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	27					0	0	0.001368	0	0
TRIP11	9321	broad.mit.edu	37	14	92471517	92471517	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471517C>G	ENST00000267622.4	-	11	3176	c.2803G>C	c.(2803-2805)Gag>Cag	p.E935Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	935					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTCTTTTGCTCTTGTAAAGAC	0.368000			T	PDGFRB	AML								15	107					0	0	0.004007	0	0
MALAT1	378938	broad.mit.edu	37	11	65272108	65272108	+	RNA	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:65272108G>A	ENST00000534336.1	+	0	6876					NR_002819.2																						GGAGGGGACTGAAGCCTTTAG	0.373000													8	23					0	0	0.003080	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1797130	1797130	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:1797130C>T	ENST00000250894.4	+	6	1002	c.845C>T	c.(844-846)tCg>tTg	p.S282L	MAPK8IP3_ENST00000568271.1_3'UTR|MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.S282L	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	282					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TCCGTGCCCTCGGCCGCCGTC	0.672000													30	54					0	0	0.010818	0	0
MOGS	7841	broad.mit.edu	37	2	74690021	74690021	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:74690021C>T	ENST00000233616.4	-	4	1057	c.895G>A	c.(895-897)Ggc>Agc	p.G299S	MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.G193S	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	299					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	p.G299C(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CCTGGCAAGCCGAGGTAGCGT	0.582000													51	134					0	0	0.003610	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													6	40					0	0	0.001984	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530308	140530308	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:140530308A>T	ENST00000231136.1	+	1	470	c.470A>T	c.(469-471)cAc>cTc	p.H157L	PCDHB6_ENST00000543635.1_Missense_Mutation_p.H21L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		157	Cadherin 2.				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)			AAAATGGCACACGATTTAGAC	0.483000													43	156					0	0	0.009718	0	0
TBC1D31	93594	broad.mit.edu	37	8	124109599	124109599	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:124109599G>C	ENST00000287380.1	+	6	839	c.749G>C	c.(748-750)aGa>aCa	p.R250T	TBC1D31_ENST00000309336.3_Missense_Mutation_p.R250T|TBC1D31_ENST00000522420.1_Missense_Mutation_p.R145T|TBC1D31_ENST00000327098.5_Missense_Mutation_p.R250T|TBC1D31_ENST00000521676.1_Missense_Mutation_p.R145T|TBC1D31_ENST00000378080.2_Missense_Mutation_p.R145T	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		CAGCTCTTTAGAATTATCCAG	0.408000													13	50					0	0	0.001855	0	0
SLC1A3	6507	broad.mit.edu	37	5	36686317	36686317	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:36686317G>A	ENST00000265113.4	+	10	2051	c.1575G>A	c.(1573-1575)ctG>ctA	p.L525L	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Silent_p.L480L	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	525					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	CATATCAACTGATTGCACAGG	0.393000													27	185					0	0	0.006320	0	0
CMYA5	202333	broad.mit.edu	37	5	79029812	79029812	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:79029812C>T	ENST00000446378.2	+	2	5255	c.5224C>T	c.(5224-5226)Cag>Tag	p.Q1742*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1742						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)		AGAAGAATTTCAGCCATTTAC	0.423000													11	45					0	0	0.010729	0	0
TRIP11	9321	broad.mit.edu	37	14	92469841	92469841	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92469841C>T	ENST00000267622.4	-	11	4852	c.4479G>A	c.(4477-4479)ctG>ctA	p.L1493L		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1493					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTTTTCTCGCAGCATCATAG	0.378000			T	PDGFRB	AML								20	92					0	0	0.010504	0	0
DNAH17	8632	broad.mit.edu	37	17	76455962	76455962	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:76455962G>A	ENST00000389840.5	-	60	9639	c.9515C>T	c.(9514-9516)gCg>gTg	p.A3172V	DNAH17_ENST00000585328.1_Missense_Mutation_p.A3181V|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GATCTTGGCCGCCTTCCAGCT	0.592000													41	34					0	0	0.007835	0	0
MROH2B	133558	broad.mit.edu	37	5	41057214	41057214	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:41057214G>C	ENST00000399564.4	-	9	1366	c.916C>G	c.(916-918)Cta>Gta	p.L306V	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GTCCTACCTAGAATGAGAAAA	0.413000													10	44					0	0	0.006214	0	0
ATP13A4	84239	broad.mit.edu	37	3	193185208	193185208	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:193185208C>G	ENST00000342695.4	-	10	1333	c.1011G>C	c.(1009-1011)caG>caC	p.Q337H	ATP13A4_ENST00000295548.3_Missense_Mutation_p.Q337H|ATP13A4_ENST00000392443.3_Missense_Mutation_p.Q337H	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	337					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)		CCGCTTCACTCTGTGTTTTCC	0.502000													19	163					0	0	0.010504	0	0
RASD1	51655	broad.mit.edu	37	17	17398763	17398763	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:17398763G>A	ENST00000225688.3	-	2	733	c.522C>T	c.(520-522)ttC>ttT	p.F174F	RASD1_ENST00000579152.1_3'UTR	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	174					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						CCGAGATCTCGAAGTAGGCGC	0.647000													5	9					0	0	0.001168	0	0
FCAR	2204	broad.mit.edu	37	19	55401049	55401049	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:55401049G>C	ENST00000355524.3	+	5	694	c.684G>C	c.(682-684)ttG>ttC	p.L228F	FCAR_ENST00000345937.4_Missense_Mutation_p.L132F|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391725.3_Missense_Mutation_p.L206F|FCAR_ENST00000391726.3_Missense_Mutation_p.L120F|FCAR_ENST00000353758.4_Missense_Mutation_p.L119F|FCAR_ENST00000391724.3_Missense_Mutation_p.L194F|FCAR_ENST00000391723.3_Missense_Mutation_p.D192H|FCAR_ENST00000359272.4_Missense_Mutation_p.L216F	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	228					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)		CGCAGAACTTGATCCGCATGG	0.537000													108	317					0	0	0.003610	0	0
PHF23	79142	broad.mit.edu	37	17	7139717	7139717	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:7139717G>A	ENST00000320316.3	-	4	755	c.529C>T	c.(529-531)Cct>Tct	p.P177S	PHF23_ENST00000454255.2_Missense_Mutation_p.P173S|PHF23_ENST00000576955.1_Missense_Mutation_p.P47S|PHF23_ENST00000571362.1_Missense_Mutation_p.P110S	NM_024297.2	NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	177							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						TTTCGAGGAGGATGGGAGAGG	0.632000													21	49					0	0	0.010504	0	0
KIF27	55582	broad.mit.edu	37	9	86518439	86518439	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:86518439G>C	ENST00000297814.2	-	4	1137	c.994C>G	c.(994-996)Ctc>Gtc	p.L332V	KIF27_ENST00000334204.2_Missense_Mutation_p.L332V|KIF27_ENST00000413982.1_Missense_Mutation_p.L332V	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	332					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						GCATATTTGAGAGAATTTAAG	0.433000													22	80					0	0	0.002299	0	0
CCDC9	26093	broad.mit.edu	37	19	47763996	47763996	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:47763996G>A	ENST00000221922.6	+	5	584	c.362G>A	c.(361-363)cGa>cAa	p.R121Q		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	121	Gly-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GAGCAGCCTCGAGGAGGAGGA	0.716000													12	24					0	0	0.010729	0	0
STAT2	6773	broad.mit.edu	37	12	56740694	56740694	+	Silent	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:56740694C>A	ENST00000314128.4	-	20	1793	c.1770G>T	c.(1768-1770)ctG>ctT	p.L590L	STAT2_ENST00000557235.1_Silent_p.L586L|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	590	SH2.				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TGGTCTTCTTCAGCAGCCGGC	0.607000													21	95					6.33239e-15	6.88453e-15	0.010504	1	0
LRBA	987	broad.mit.edu	37	4	151773393	151773393	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:151773393G>A	ENST00000535741.1	-	23	3942	c.3469C>T	c.(3469-3471)Caa>Taa	p.Q1157*	LRBA_ENST00000507224.1_Nonsense_Mutation_p.Q1157*|LRBA_ENST00000510413.1_Nonsense_Mutation_p.Q1157*|LRBA_ENST00000357115.3_Nonsense_Mutation_p.Q1157*			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1157						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTTCCTTCTTGAAATATTAAT	0.383000													21	66					0	0	0.008871	0	0
DSTYK	25778	broad.mit.edu	37	1	205138659	205138659	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:205138659T>C	ENST00000367162.3	-	3	986	c.956A>G	c.(955-957)aAc>aGc	p.N319S	DSTYK_ENST00000367161.3_Missense_Mutation_p.N319S|DSTYK_ENST00000367160.4_Missense_Mutation_p.N319S	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	319						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						AGCCCCACAGTTCCAGTGACT	0.498000													10	52					0	0	0.008291	0	0
NACA	4666	broad.mit.edu	37	12	57106570	57106570	+	Splice_Site	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57106570C>T	ENST00000454682.1	-	8	6503	c.6222_splice	c.e8+1	p.M2074_splice	NACA_ENST00000356769.3_Splice_Site_p.M211_splice|NACA_ENST00000546392.1_Splice_Site_p.M211_splice|NACA_ENST00000550952.1_Splice_Site_p.M921_splice|NACA_ENST00000552540.1_Splice_Site_p.M211_splice|NACA_ENST00000393891.4_Splice_Site_p.M211_splice|NACA_ENST00000548563.1_Splice_Site_p.M132_splice	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	211					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GAACACTTACCATAATCGCAT	0.403000			T	BCL6	NHL								17	79					0	0	0.006122	0	0
TRPM1	4308	broad.mit.edu	37	15	31338418	31338418	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:31338418G>C	ENST00000542188.1	-	15	2147	c.1834C>G	c.(1834-1836)Ctg>Gtg	p.L612V	TRPM1_ENST00000256552.6_Missense_Mutation_p.L595V|TRPM1_ENST00000397795.2_Missense_Mutation_p.L573V	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	573					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCCATTCCCAGAAGTTTAAGA	0.313000													11	25					0	0	0.008291	0	0
C6orf222	389384	broad.mit.edu	37	6	36285134	36285134	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:36285134C>T	ENST00000437635.2	-	12	2135	c.1958G>A	c.(1957-1959)tGa>tAa	p.*653*		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	0										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						ACACAGCTTTCAATCTGGACT	0.443000													19	37					0	0	0.006122	0	0
SPC24	147841	broad.mit.edu	37	19	11266370	11266370	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:11266370C>G	ENST00000592540.1	-	1	114	c.83G>C	c.(82-84)cGa>cCa	p.R28P		NM_182513.2	NP_872319.1	Q8NBT2	SPC24_HUMAN	SPC24, NDC80 kinetochore complex component	28	Interaction with the N-terminus of SPBC25.|Interaction with the NDC80-CDCA1 subcomplex.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	5						CAGCAGCCGTCGCTGCTGCGC	0.701000													3	10					0	0	0.004672	0	0
FNIP2	57600	broad.mit.edu	37	4	159791564	159791564	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:159791564C>T	ENST00000264433.6	+	14	2967	c.2892C>T	c.(2890-2892)acC>acT	p.T964T	FNIP2_ENST00000379346.3_Silent_p.T987T	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	964					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	p.T964T(1)|p.T290T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TTCATGGGACCGGCAGTGATG	0.562000													16	31					0	0	0.004007	0	0
CLTCL1	8218	broad.mit.edu	37	22	19207486	19207486	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:19207486C>T	ENST00000263200.10	-	18	2899	c.2827G>A	c.(2827-2829)Gag>Aag	p.E943K	CLTCL1_ENST00000427926.1_Missense_Mutation_p.E943K|CLTCL1_ENST00000353891.5_Missense_Mutation_p.E943K	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	943	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TAGCGGGCCTCGCTTTTGAAC	0.552000			T	?	ALCL								38	130					0	0	0.005524	0	0
FAM111A	63901	broad.mit.edu	37	11	58919875	58919875	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:58919875A>G	ENST00000528737.1	+	5	3552	c.734A>G	c.(733-735)aAc>aGc	p.N245S	FAM111A_ENST00000533703.1_Missense_Mutation_p.N245S|FAM111A_ENST00000420244.1_Missense_Mutation_p.N245S|FAM111A_ENST00000531147.1_Missense_Mutation_p.N245S|FAM111A_ENST00000361723.3_Missense_Mutation_p.N245S			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	245					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CTCATTGAAAACAATGACACC	0.418000													15	73					0	0	0.002450	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994519	45994519	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:45994519C>G	ENST00000400374.3	+	1	914	c.884C>G	c.(883-885)tCt>tGt	p.S295C	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	295	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GGGGCTTCCTCTCTGTGCTGC	0.637000													13	181					0	0	0.001368	0	0
MALAT1	378938	broad.mit.edu	37	11	65272931	65272931	+	RNA	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:65272931G>A	ENST00000534336.1	+	0	7699					NR_002819.2																						AGCGGTGCTTGAAGGGGAGGG	0.468000													14	77					0	0	0.007413	0	0
SUPT6H	6830	broad.mit.edu	37	17	27001375	27001375	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:27001375G>C	ENST00000314616.6	+	3	467	c.184G>C	c.(184-186)Gat>Cat	p.D62H	SUPT6H_ENST00000347486.4_Missense_Mutation_p.D62H	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	62	Asp/Glu-rich.			DDDEDEGEEDEGS -> ATAPGHPKLSEGR (in Ref. 1; AAC50821).	chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CAATGACGATGATGATGAAGA	0.473000													10	27					0	0	0.008291	0	0
TRIP11	9321	broad.mit.edu	37	14	92471562	92471562	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471562C>T	ENST00000267622.4	-	11	3131	c.2758G>A	c.(2758-2760)Gaa>Aaa	p.E920K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	920					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTTTGATCTTCAATTATCTTT	0.373000			T	PDGFRB	AML								24	86					0	0	0.002780	0	0
YY1	7528	broad.mit.edu	37	14	100743853	100743853	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:100743853C>T	ENST00000262238.4	+	5	1421	c.1161C>T	c.(1159-1161)ttC>ttT	p.F387F		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	387	Involved in masking transactivation domain.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				TGTGCCCCTTCGATGGTTGTA	0.458000													18	50					0	0	0.004990	0	0
DTX4	23220	broad.mit.edu	37	11	58972245	58972245	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:58972245G>A	ENST00000227451.3	+	9	1827	c.1723G>A	c.(1723-1725)Gag>Aag	p.E575K	DTX4_ENST00000532982.1_Missense_Mutation_p.E469K	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	575					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CATCTGGAATGAGGTCCACCA	0.562000													4	18					0	0	0.009096	0	0
ZNF700	90592	broad.mit.edu	37	19	12060474	12060474	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:12060474C>T	ENST00000482090.1	+	3	1999	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000254321.5_Silent_p.F545F|CTD-2006C1.12_ENST00000586394.1_RNA			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	545					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GTAAAGCCTTCAGATGTTGCA	0.423000													17	61					0	0	0.004007	0	0
SRCAP	10847	broad.mit.edu	37	16	30749759	30749759	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:30749759G>C	ENST00000262518.4	+	34	8783	c.8398G>C	c.(8398-8400)Gaa>Caa	p.E2800Q	SRCAP_ENST00000395059.2_Missense_Mutation_p.E2738Q|SRCAP_ENST00000344771.4_Missense_Mutation_p.E2642Q	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2800	Pro-rich.				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)			GTCAGGGCCAGAATCCTCCCC	0.652000													4	76					0	0	0.009096	0	0
TSSK6	83983	broad.mit.edu	37	19	19625897	19625897	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:19625897C>T	ENST00000360913.3	-	1	941	c.340G>A	c.(340-342)Gac>Aac	p.D114N	TSSK6_ENST00000585580.3_Missense_Mutation_p.D114N			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	114	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.D114N(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GCAAAGAGGTCGCGCGCCTGA	0.657000													22	53					0	0	0.010504	0	0
CEP250	11190	broad.mit.edu	37	20	34054880	34054880	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:34054880G>C	ENST00000397527.1	+	8	1302	c.582G>C	c.(580-582)atG>atC	p.M194I	CEP250_ENST00000397524.1_Missense_Mutation_p.M194I|CEP250_ENST00000342580.4_Missense_Mutation_p.M194I	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	194					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TCCTGGAAATGAAGTCAGCTA	0.527000													16	45					0	0	0.004990	0	0
SUMF2	25870	broad.mit.edu	37	7	56142396	56142396	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:56142396G>A	ENST00000434526.2	+	5	590	c.559G>A	c.(559-561)Gag>Aag	p.E187K	SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000413756.1_Missense_Mutation_p.E168K|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000395436.2_Missense_Mutation_p.E172K|SUMF2_ENST00000342190.6_Missense_Mutation_p.E187K|SUMF2_ENST00000275607.9_Missense_Mutation_p.E80K	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	168						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CACGGAGGAAGAGTGGGAGTT	0.567000											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	112					0	0	0.001984	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	56					0	0	0.009096	0	0
CYFIP1	23191	broad.mit.edu	37	15	22935917	22935917	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:22935917G>A	ENST00000313077.7	+	9	978	c.853G>A	c.(853-855)Gat>Aat	p.D285N	CYFIP1_ENST00000560848.1_Missense_Mutation_p.D285N	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	285					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CTATAAGTTGGATGCCAAGAA	0.368000													5	26					0	0	0.001168	0	0
HOXB7	3217	broad.mit.edu	37	17	46685395	46685395	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:46685395C>A	ENST00000239165.7	-	2	561	c.463G>T	c.(463-465)Gaa>Taa	p.E155*	HOXB7_ENST00000567101.1_5'UTR	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	155						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						TAGTGAAATTCTTTCTCCAGC	0.542000													29	90					7.26314e-15	7.8857e-15	0.007291	1	0
CIT	11113	broad.mit.edu	37	12	120241085	120241085	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:120241085G>A	ENST00000392521.2	-	10	1275	c.1220C>T	c.(1219-1221)tCa>tTa	p.S407L	CIT_ENST00000261833.7_Missense_Mutation_p.S407L	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	407	AGC-kinase C-terminal.				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)		CGAGAAGCCTGAGGGGCTCAG	0.493000													34	85					0	0	0.010818	0	0
USP9X	8239	broad.mit.edu	37	X	41000592	41000592	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:41000592G>A	ENST00000324545.7	+	9	1702	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	USP9X_ENST00000378308.2_Missense_Mutation_p.E357K	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	357					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGCACTGAATGAAGTTAATAA	0.348000													10	5					0	0	0.006214	0	0
NACA	4666	broad.mit.edu	37	12	57110609	57110609	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57110609C>G	ENST00000454682.1	-	3	4986	c.4705G>C	c.(4705-4707)Gaa>Caa	p.E1569Q	NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GCTGGGGCTTCTTTGGGGGTT	0.567000			T	BCL6	NHL								7	20					0	0	0.001984	0	0
MYH9	4627	broad.mit.edu	37	22	36691645	36691645	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:36691645C>T	ENST00000216181.5	-	26	3621	c.3391G>A	c.(3391-3393)Gag>Aag	p.E1131K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1131					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTCTGCTTCTCAGCTTTATTC	0.547000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				7	36					0	0	0.003163	0	0
HDHD3	81932	broad.mit.edu	37	9	116136231	116136231	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:116136231G>C	ENST00000238379.5	-	2	1301	c.404C>G	c.(403-405)tCc>tGc	p.S135C	HDHD3_ENST00000485934.1_5'UTR|HDHD3_ENST00000374180.3_Missense_Mutation_p.S135C	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	135							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						GTCAAAGTTGGAGATCACTGC	0.622000													43	137					0	0	0.003610	0	0
TAOK2	9344	broad.mit.edu	37	16	29994478	29994478	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:29994478C>G	ENST00000308893.4	+	12	2128	c.1085C>G	c.(1084-1086)tCc>tGc	p.S362C	TAOK2_ENST00000416441.2_Missense_Mutation_p.S189C|TAOK2_ENST00000279394.3_Missense_Mutation_p.S362C|TAOK2_ENST00000543033.1_Missense_Mutation_p.S362C	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	362	Ser-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ATCAGCGCCTCCAGCCAGAGC	0.627000													42	96					0	0	0.009718	0	0
KPRP	448834	broad.mit.edu	37	1	152732722	152732722	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:152732722C>T	ENST00000368773.1	+	2	716	c.658C>T	c.(658-660)Cag>Tag	p.Q220*	KPRP_ENST00000606109.1_Nonsense_Mutation_p.Q220*	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	220						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTTTCCCTCAGTATCGGTC	0.577000													9	138					0	0	0.010729	0	0
F11R	50848	broad.mit.edu	37	1	160970527	160970527	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:160970527G>A	ENST00000368026.6	-	4	556	c.282C>T	c.(280-282)atC>atT	p.I94I	F11R_ENST00000537746.1_Intron|F11R_ENST00000472573.1_5'UTR|F11R_ENST00000289779.3_3'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	94	Ig-like V-type 1.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			ACTTGAAGGTGATACCAGTTG	0.537000													9	46					0	0	0.004482	0	0
MUC16	94025	broad.mit.edu	37	19	9011341	9011341	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:9011341C>T	ENST00000397910.4	-	36	39095	c.38892G>A	c.(38890-38892)agG>agA	p.R12964R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12966	SEA 6.				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						AGAGACTGTTCCTGTCCAGGG	0.547000													49	150					0	0	0.003610	0	0
SPIRE2	84501	broad.mit.edu	37	16	89930015	89930015	+	Silent	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:89930015G>T	ENST00000378247.3	+	11	1750	c.1707G>T	c.(1705-1707)ggG>ggT	p.G569G	SPIRE2_ENST00000393062.2_Silent_p.G569G	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	569					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TGAAGAAGGGGAAGGTGAGGC	0.587000													12	60					3.07112e-06	3.20779e-06	0.010729	1	0
R3HDM1	23518	broad.mit.edu	37	2	136399347	136399347	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:136399347C>T	ENST00000264160.4	+	15	1831	c.1461C>T	c.(1459-1461)atC>atT	p.I487I	R3HDM1_ENST00000410054.1_Silent_p.I431I|R3HDM1_ENST00000329971.3_Intron|R3HDM1_ENST00000443537.2_Intron|R3HDM1_ENST00000409606.1_Silent_p.I487I|R3HDM1_ENST00000409478.1_Intron	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	487							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GTATTCTGATCAACCCACAAA	0.418000													14	47					0	0	0.003163	0	0
CBX7	23492	broad.mit.edu	37	22	39530549	39530549	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:39530549G>C	ENST00000216133.5	-	5	660	c.455C>G	c.(454-456)tCg>tGg	p.S152W	CBX7_ENST00000401405.3_Intron|CBX7_ENST00000475962.1_Intron	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	152					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					CTTCTTGCGCGAGAGCCGCAG	0.701000													6	20					0	0	0.001168	0	0
KDM5B	10765	broad.mit.edu	37	1	202725518	202725518	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:202725518C>G	ENST00000367265.3	-	10	2488	c.1324G>C	c.(1324-1326)Gat>Cat	p.D442H	KDM5B_ENST00000367264.2_Missense_Mutation_p.D478H|KDM5B_ENST00000456180.1_5'UTR	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	442					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ATTTTCCCATCTCGGACAGGA	0.418000													40	92					0	0	0.007835	0	0
LIMS2	55679	broad.mit.edu	37	2	128415128	128415128	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:128415128G>A	ENST00000409455.1	-	2	640	c.5C>T	c.(4-6)tCg>tTg	p.S2L	LIMS2_ENST00000545738.2_Missense_Mutation_p.S29L|LIMS2_ENST00000409808.2_Missense_Mutation_p.S2L|LIMS2_ENST00000410011.1_Missense_Mutation_p.S2L|LIMS2_ENST00000324938.5_Missense_Mutation_p.S31L|LIMS2_ENST00000355119.4_Missense_Mutation_p.S7L			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	7					cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CAAGGCGTCCGACATATTGCT	0.662000													24	61					0	0	0.002780	0	0
HRG	3273	broad.mit.edu	37	3	186395631	186395631	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:186395631C>T	ENST00000232003.4	+	7	1617	c.1537C>T	c.(1537-1539)Cca>Tca	p.P513S		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	513					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)		GAGTGGGTTTCCACAAGTTTC	0.363000													33	88					0	0	0.012213	0	0
OR1L3	26735	broad.mit.edu	37	9	125438072	125438072	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:125438072C>T	ENST00000304820.2	+	1	758	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TCTAAGAATTCTCATCGCTGT	0.468000													23	72					0	0	0.012319	0	0
CHD1L	9557	broad.mit.edu	37	1	146756150	146756150	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:146756150G>A	ENST00000369258.4	+	16	1852	c.1832G>A	c.(1831-1833)cGa>cAa	p.R611Q	CHD1L_ENST00000431239.1_Missense_Mutation_p.R517Q|CHD1L_ENST00000361293.5_Missense_Mutation_p.R330Q|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Missense_Mutation_p.R407Q	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	611					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CAAGAGGGCCGATCACTCCGA	0.348000													17	63					0	0	0.004007	0	0
C20orf194	25943	broad.mit.edu	37	20	3299010	3299010	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:3299010C>A	ENST00000252032.9	-	17	1461	c.1394G>T	c.(1393-1395)gGa>gTa	p.G465V	C20orf194_ENST00000453730.2_Missense_Mutation_p.G203V	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	465										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						ACCATTGCCTCCCAGTAAGTC	0.388000													25	61					3.73148e-12	4.02939e-12	0.007291	1	0
TEX35	84066	broad.mit.edu	37	1	178491564	178491564	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:178491564G>A	ENST00000319416.2	+	9	803	c.691G>A	c.(691-693)Gag>Aag	p.E231K	TEX35_ENST00000258298.2_Intron|TEX35_ENST00000367639.1_Intron|TEX35_ENST00000367641.3_3'UTR|TEX35_ENST00000367642.3_3'UTR	NM_032126.4	NP_115502.2			testis expressed 35																		gtcccagactgagggaaggtg	0.522000													5	9					0	0	0.000602	0	0
GAN	8139	broad.mit.edu	37	16	81388253	81388253	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:81388253C>G	ENST00000248272.3	+	3	688	c.526C>G	c.(526-528)Caa>Gaa	p.Q176E		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	176	BACK.				cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GCTGAGTCCTCAAAAGCTTAA	0.408000													21	50					0	0	0.010504	0	0
PIN4	5303	broad.mit.edu	37	X	71401627	71401627	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:71401627G>A	ENST00000218432.5	+	1	102	c.67G>A	c.(67-69)Gct>Act	p.A23T	PIN4_ENST00000423432.2_Missense_Mutation_p.A23T|PIN4_ENST00000373669.2_Missense_Mutation_p.A23T			Q9Y237	PIN4_HUMAN	protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin)	0	Necessary for association with the pre- rRNP complexes.|Necessary for nuclear localization and DNA-binding.				protein folding|rRNA processing	cytoplasm|mitochondrial matrix|nucleolus|preribosome|spindle	bent DNA binding|DNA binding|double-stranded DNA binding|peptidyl-prolyl cis-trans isomerase activity			large_intestine(1)|lung(2)	3	Renal(35;0.156)					TCAACAACAAGCTTCCAAGAT	0.547000													5	11					0	0	0.001168	0	0
VPS33A	65082	broad.mit.edu	37	12	122750886	122750886	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:122750886G>T	ENST00000267199.4	-	1	182	c.70C>A	c.(70-72)Cgc>Agc	p.R24S	VPS33A_ENST00000451053.2_Missense_Mutation_p.R24S|RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.R24S	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	24					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AGGAACTCGCGCAGCTCGCGA	0.667000													10	41					4.68919e-08	4.96942e-08	0.008291	1	0
MYH9	4627	broad.mit.edu	37	22	36691644	36691644	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:36691644T>A	ENST00000216181.5	-	26	3622	c.3392A>T	c.(3391-3393)gAg>gTg	p.E1131V		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1131					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTTCTGCTTCTCAGCTTTATT	0.547000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				7	37					0	0	0.003163	0	0
TIGD4	201798	broad.mit.edu	37	4	153692046	153692046	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:153692046C>G	ENST00000304337.2	-	2	931	c.111G>C	c.(109-111)aaG>aaC	p.K37N		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	37	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CTGCTTTTTTCTTGCCACTTT	0.358000													29	55					0	0	0.006320	0	0
HAX1	10456	broad.mit.edu	37	1	154246316	154246316	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:154246316C>G	ENST00000328703.7	+	3	596	c.383C>G	c.(382-384)tCa>tGa	p.S128*	HAX1_ENST00000457918.2_Nonsense_Mutation_p.S80*|HAX1_ENST00000483970.2_Nonsense_Mutation_p.S136*|HAX1_ENST00000532105.1_5'UTR	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	128	Involved in HCLS1 binding.	Cleavage; by caspase-3.				actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTTCGGGACTCAATGCTTAAG	0.557000									Kostmann syndrome				26	103					0	0	0.006320	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72492036	72492036	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr10:72492036C>T	ENST00000373208.1	+	7	1138	c.1138C>T	c.(1138-1140)Cac>Tac	p.H380Y	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.H377Y	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	377	Peptidase M12B.				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						TGGCATGTGTCACCCCCTGAG	0.597000													3	23					0	0	0.004672	0	0
EPCAM	4072	broad.mit.edu	37	2	47601169	47601169	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:47601169C>G	ENST00000263735.4	+	3	765	c.407C>G	c.(406-408)tCt>tGt	p.S136C	EPCAM_ENST00000405271.1_Missense_Mutation_p.S164C	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	136					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						ATAACCTGCTCTGAGCGAGTG	0.433000													8	39					0	0	0.004482	0	0
RIN3	79890	broad.mit.edu	37	14	93022127	93022127	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:93022127G>C	ENST00000216487.7	+	2	235	c.76G>C	c.(76-78)Gag>Cag	p.E26Q		NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	26	Poly-Glu.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AGGAGAGGAAGAGGAAGAGGA	0.517000													14	22					0	0	0.001855	0	0
KLHL3	26249	broad.mit.edu	37	5	137045500	137045500	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:137045500C>T	ENST00000508657.1	-	3	798	c.84G>A	c.(82-84)gaG>gaA	p.E28E	KLHL3_ENST00000309755.4_Silent_p.E60E|KLHL3_ENST00000394937.3_Silent_p.E60E	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	60						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		GGGCTTCTATCTCGACATCTT	0.537000													26	100					0	0	0.007291	0	0
TNK2	10188	broad.mit.edu	37	3	195595308	195595308	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:195595308G>C	ENST00000333602.6	-	12	2433	c.1816C>G	c.(1816-1818)Cag>Gag	p.Q606E	TNK2_ENST00000428187.1_Missense_Mutation_p.Q638E|TNK2_ENST00000392400.1_Missense_Mutation_p.Q606E|TNK2_ENST00000381916.2_Missense_Mutation_p.Q684E	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	606	Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GTGGGGCTCTGAGGCGGGGTC	0.766000													11	22					0	0	0.010729	0	0
SLC2A1	6513	broad.mit.edu	37	1	43394969	43394969	+	Missense_Mutation	SNP	G	G	C	rs80359823		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:43394969G>C	ENST00000426263.3	-	7	1062	c.884C>G	c.(883-885)aCg>aGg	p.T295R	SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	295			T -> M (in GLUT1DS1; 75% of wild-type glucose uptake activity).		carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GAAGATGCTCGTGGAGTAATA	0.572000													7	9					0	0	0.003080	0	0
RPLP0	6175	broad.mit.edu	37	12	120635242	120635242	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:120635242G>C	ENST00000551150.1	-	6	990	c.675C>G	c.(673-675)gtC>gtG	p.V225V	RPLP0_ENST00000546989.1_Silent_p.V189V|RPLP0_ENST00000552292.1_Silent_p.V15V|RPLP0_ENST00000313104.5_Silent_p.V163V|RPLP0_ENST00000392514.4_Silent_p.V225V|RPLP0_ENST00000228306.4_Silent_p.V225V			P05388	RLA0_HUMAN	ribosomal protein, large, P0	225					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTGCAGACAGACACTGGCAA	0.488000													16	31					0	0	0.004990	0	0
FAM91A1	157769	broad.mit.edu	37	8	124810476	124810476	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:124810476C>T	ENST00000334705.7	+	16	1804	c.1558C>T	c.(1558-1560)Cag>Tag	p.Q520*	FAM91A1_ENST00000521166.1_Nonsense_Mutation_p.Q520*	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	520										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CTGCACCCCTCAGGTAAAGAC	0.453000													17	52					0	0	0.004990	0	0
MOGAT1	116255	broad.mit.edu	37	2	223559247	223559247	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:223559247G>C	ENST00000446656.3	+	4	645	c.645G>C	c.(643-645)ttG>ttC	p.L215F		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	215					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		AAATTGCTTTGACCCATGGGT	0.413000													10	23					0	0	0.010729	0	0
COPB1	1315	broad.mit.edu	37	11	14507935	14507935	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:14507935G>C	ENST00000249923.3	-	7	1115	c.815C>G	c.(814-816)tCt>tGt	p.S272C	COPB1_ENST00000439561.2_Missense_Mutation_p.S272C	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	272					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						TGGTGCACTAGAGAGTGTCAC	0.398000													12	93					0	0	0.001855	0	0
NACA	4666	broad.mit.edu	37	12	57110634	57110634	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57110634C>G	ENST00000454682.1	-	3	4961	c.4680G>C	c.(4678-4680)aaG>aaC	p.K1560N	NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTGCTGGGGTCTTTTTAGGGG	0.567000			T	BCL6	NHL								11	27					0	0	0.001855	0	0
ARCN1	372	broad.mit.edu	37	11	118453900	118453900	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:118453900G>A	ENST00000359415.4	+	4	562	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Missense_Mutation_p.E4K|ARCN1_ENST00000264028.4_Missense_Mutation_p.E92K			P48444	COPD_HUMAN	archain 1	92					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTAGATCCCTGAATATTGCCG	0.348000													35	53					0	0	0.006999	0	0
RNF213	57674	broad.mit.edu	37	17	78358943	78358943	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:78358943C>T	ENST00000582970.1	+	60	14570	c.14427C>T	c.(14425-14427)atC>atT	p.I4809I	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.I4858I|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Silent_p.I2882I|RNF213_ENST00000427003.3_3'UTR	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	1175										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACAGCTCCATCAGAGGCTTCC	0.532000													11	44					0	0	0.010729	0	0
BMX	660	broad.mit.edu	37	X	15560113	15560113	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:15560113G>T	ENST00000357607.2	+	15	1591	c.1403G>T	c.(1402-1404)aGc>aTc	p.S468I	BMX_ENST00000348343.6_Missense_Mutation_p.S468I|BMX_ENST00000342014.6_Missense_Mutation_p.S468I			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	468	Protein kinase.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AGGAAACTCAGCCATCCCAAG	0.373000													35	46					2.48696e-23	2.74494e-23	0.003271	1	0
BCAN	63827	broad.mit.edu	37	1	156621405	156621405	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:156621405C>T	ENST00000329117.4	+	7	1557	c.1221C>T	c.(1219-1221)tcC>tcT	p.S407S	BCAN_ENST00000361588.5_Silent_p.S407S|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	407	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)					CCATCTACTCCATCCCCATCA	0.577000													9	90					0	0	0.008291	0	0
ACIN1	22985	broad.mit.edu	37	14	23548138	23548138	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:23548138C>G	ENST00000262710.1	-	7	2399	c.2072G>C	c.(2071-2073)tGt>tCt	p.C691S	ACIN1_ENST00000555053.1_Missense_Mutation_p.C691S|ACIN1_ENST00000457657.1_Missense_Mutation_p.C651S|ACIN1_ENST00000605057.1_Missense_Mutation_p.C633S	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	691					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTTTGGCTCACAGACCTGCAG	0.542000													9	39					0	0	0.006214	0	0
C16orf98	100652740	broad.mit.edu	37	16	31213943	31213943	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:31213943G>A	ENST00000561916.2	+	2	265	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	PYCARD_ENST00000247470.9_Silent_p.F23F|PYCARD_ENST00000350605.4_Silent_p.F23F					chromosome 16 open reading frame 98																		GCTTCAGCTTGAACTTCTTGA	0.706000													8	42					0	0	0.003080	0	0
RUFY3	22902	broad.mit.edu	37	4	71660554	71660554	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:71660554A>T	ENST00000381006.3	+	14	2079	c.1500A>T	c.(1498-1500)agA>agT	p.R500S	RUFY3_ENST00000502653.1_Missense_Mutation_p.R447S	NM_001037442.2	NP_001032519.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	335					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AAGAAAGAAGATTACAAAACG	0.368000													6	91					0	0	0.001984	0	0
BTBD6	90135	broad.mit.edu	37	14	105716585	105716585	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:105716585C>A	ENST00000463376.2	+	3	1350	c.809C>A	c.(808-810)gCc>gAc	p.A270D	BRF1_ENST00000440513.3_Intron|BRF1_ENST00000379937.2_Intron|BTBD6_ENST00000392554.3_Missense_Mutation_p.A345D|BTBD6_ENST00000536364.1_Missense_Mutation_p.A345D|BRF1_ENST00000546474.1_Intron|BTBD6_ENST00000327471.3_Missense_Mutation_p.A270D|BRF1_ENST00000327359.3_Intron			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	345						cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		CAGTCTTCTGCCTACCGCAGC	0.622000													18	57					3.52763e-06	3.6798e-06	0.004990	1	0
SLCO1B1	10599	broad.mit.edu	37	12	21358889	21358889	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:21358889C>G	ENST00000256958.2	+	11	1515	c.1419C>G	c.(1417-1419)gtC>gtG	p.V473V		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	473	Kazal-like.				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			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)	GGGAACCAGTCTGTGGAAACA	0.368000													11	82					0	0	0.010729	0	0
RASGRF1	5923	broad.mit.edu	37	15	79296198	79296198	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:79296198C>T	ENST00000419573.3	-	16	2717	c.2443G>A	c.(2443-2445)Gag>Aag	p.E815K	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_Missense_Mutation_p.E31K|RASGRF1_ENST00000558480.2_Missense_Mutation_p.E799K	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	817					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTATCGCCCTCATCTGGAATC	0.607000													14	38					0	0	0.002450	0	0
FAM3B	54097	broad.mit.edu	37	21	42694889	42694889	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:42694889G>T	ENST00000398652.3	+	3	242	c.176G>T	c.(175-177)tGt>tTt	p.C59F	FAM3B_ENST00000357985.2_Missense_Mutation_p.C20F|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Missense_Mutation_p.C43F|FAM3B_ENST00000398647.3_Intron			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	20					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				GCCTCCTTGTGTGCCTGGTAT	0.622000													9	44					0.000442599	0.000456323	0.006214	1	0
FAM20A	54757	broad.mit.edu	37	17	66548055	66548055	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:66548055C>T	ENST00000592554.1	-	4	1400	c.678G>A	c.(676-678)ctG>ctA	p.L226L	FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	226						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					CCGAGAACCTCAGCACCAGCT	0.552000													3	3					0	0	0.009096	0	0
DLG1	1739	broad.mit.edu	37	3	196792287	196792287	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:196792287C>T	ENST00000346964.2	-	23	2521	c.2332G>A	c.(2332-2334)Gat>Aat	p.D778N	DLG1_ENST00000422288.1_Missense_Mutation_p.D705N|DLG1_ENST00000419354.1_Missense_Mutation_p.D756N|DLG1_ENST00000392382.2_Missense_Mutation_p.D723N|DLG1_ENST00000357674.4_Missense_Mutation_p.D745N|DLG1_ENST00000452595.1_Missense_Mutation_p.D640N|DLG1_ENST00000314062.3_Missense_Mutation_p.D705N|DLG1_ENST00000450955.1_Missense_Mutation_p.D745N|DLG1_ENST00000448528.2_Missense_Mutation_p.D756N|DLG1_ENST00000443183.1_Missense_Mutation_p.D652N	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	756	Guanylate kinase-like.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TCTCTTCCATCTACCTCATAA	0.303000													7	135					0	0	0.001984	0	0
ZNF354C	30832	broad.mit.edu	37	5	178507032	178507032	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:178507032C>T	ENST00000315475.6	+	5	1905	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|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)	all cancers(165;0.247)		GGAAACCTTTCATCTGCAGCT	0.383000													19	84					0	0	0.006320	0	0
HUWE1	10075	broad.mit.edu	37	X	53602642	53602642	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:53602642C>G	ENST00000342160.3	-	44	6448	c.5991G>C	c.(5989-5991)caG>caC	p.Q1997H	HUWE1_ENST00000262854.6_Missense_Mutation_p.Q1997H			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1997					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGTCACTGCTCTGACGCGTAA	0.448000													6	7					0	0	0.001984	0	0
FGGY	55277	broad.mit.edu	37	1	59844477	59844477	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:59844477C>G	ENST00000371218.4	+	5	706	c.522C>G	c.(520-522)ttC>ttG	p.F174L	FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000303721.7_Missense_Mutation_p.F174L|FGGY_ENST00000371212.1_Missense_Mutation_p.F86L	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	174					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCCGGACTTCTTATCGTGGA	0.393000													3	47					0	0	0.004672	0	0
MAP10	54627	broad.mit.edu	37	1	232941206	232941206	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:232941206C>G	ENST00000418460.1	+	1	564	c.437C>G	c.(436-438)tCg>tGg	p.S146W		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		ATGGCGGCCTCGCTGTCCGAG	0.677000													7	14					0	0	0.001984	0	0
TRANK1	9881	broad.mit.edu	37	3	36897603	36897603	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:36897603C>G	ENST00000429976.2	-	12	3725	c.3478G>C	c.(3478-3480)Gag>Cag	p.E1160Q	TRANK1_ENST00000428977.2_Missense_Mutation_p.E610Q|TRANK1_ENST00000301807.6_Missense_Mutation_p.E610Q			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1160					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTTTGTACCTCCTGGCACAGC	0.502000													8	117					0	0	0.003080	0	0
TRIP11	9321	broad.mit.edu	37	14	92471001	92471001	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92471001C>T	ENST00000267622.4	-	11	3692	c.3319G>A	c.(3319-3321)Gag>Aag	p.E1107K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1107			E -> D (in dbSNP:rs4619320).		transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTAGTCTTCTCATTCAAAACA	0.363000			T	PDGFRB	AML								13	35					0	0	0.001368	0	0
THOC2	57187	broad.mit.edu	37	X	122866817	122866817	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:122866817G>A	ENST00000245838.8	-	1	87	c.56C>T	c.(55-57)tCa>tTa	p.S19L	THOC2_ENST00000355725.4_Missense_Mutation_p.S19L	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	19					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GCCTCTCCCTGATTTCTCCCA	0.632000											OREG0003978|OREG0003979	type=REGULATORY REGION|Gene=BC041435|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=THOC2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	37					0	0	0.001984	0	0
TRPC1	7220	broad.mit.edu	37	3	142443489	142443489	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:142443489G>A	ENST00000273482.6	+	1	479	c.88G>A	c.(88-90)Gag>Aag	p.E30K	TRPC1_ENST00000476941.1_Missense_Mutation_p.E30K	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	30					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ctcGCCGAACGAGGTGATGGC	0.617000													12	65					0	0	0.010729	0	0
GPSM2	29899	broad.mit.edu	37	1	109461321	109461321	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:109461321G>A	ENST00000406462.1	+	13	2123	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L	GPSM2_ENST00000264126.3_Silent_p.L450L|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	450					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TCAACAGACTGAAGGGGAAAA	0.373000													9	56					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179498729	179498729	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:179498729G>A	ENST00000589042.1	-	231	42721	c.42497C>T	c.(42496-42498)tCt>tTt	p.S14166F	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S12525F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S5101F|TTN_ENST00000342175.6_Missense_Mutation_p.S5293F|TTN_ENST00000359218.5_Missense_Mutation_p.S5226F|TTN_ENST00000342992.6_Missense_Mutation_p.S11598F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12525	Fibronectin type-III 2.						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)			TTTTTCATGAGAAAGTTCACA	0.368000													69	156					0	0	0.003610	0	0
ABCA2	20	broad.mit.edu	37	9	139909920	139909920	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:139909920C>T	ENST00000265662.5	-	24	3790	c.3643G>A	c.(3643-3645)Gac>Aac	p.D1215N	ABCA2_ENST00000371605.3_Missense_Mutation_p.D1214N|ABCA2_ENST00000341511.6_Missense_Mutation_p.D1215N			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1214	ABC transporter 1.				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)		CGGTACCCGTCGCCATAGGTG	0.662000													3	10					0	0	0.004672	0	0
OS9	10956	broad.mit.edu	37	12	58112070	58112070	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:58112070G>C	ENST00000315970.7	+	11	1317	c.1276G>C	c.(1276-1278)Gat>Cat	p.D426H	OS9_ENST00000257966.8_Missense_Mutation_p.D427H|OS9_ENST00000552285.1_Missense_Mutation_p.D426H|OS9_ENST00000413095.2_Missense_Mutation_p.D220H|OS9_ENST00000439210.2_Missense_Mutation_p.D367H|OS9_ENST00000435406.2_Missense_Mutation_p.D374H|OS9_ENST00000389142.5_Missense_Mutation_p.D426H|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000389146.6_Missense_Mutation_p.D426H|OS9_ENST00000551035.1_Missense_Mutation_p.D394H	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	426	Asp/Glu-rich (acidic).				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			tgaggatgaagatgaggatga	0.542000													6	74					0	0	0.001168	0	0
DCBLD2	131566	broad.mit.edu	37	3	98518364	98518364	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:98518364G>A	ENST00000326840.6	-	16	2542	c.2180C>T	c.(2179-2181)tCa>tTa	p.S727L	DCBLD2_ENST00000326857.9_Missense_Mutation_p.S741L	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	727					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GGCCTGGGCTGAGGAGCAGCT	0.557000													68	233					0	0	0.003610	0	0
KATNB1	10300	broad.mit.edu	37	16	57786709	57786709	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:57786709G>C	ENST00000379661.3	+	10	1116	c.724G>C	c.(724-726)Gac>Cac	p.D242H		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	242	Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				CTTCAACCCAGACGGCTGCTG	0.657000													4	28					0	0	0.009096	0	0
KPNA1	3836	broad.mit.edu	37	3	122170899	122170899	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:122170899G>C	ENST00000344337.6	-	7	753	c.577C>G	c.(577-579)Ctt>Gtt	p.L193V	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	193	NLS binding site (major) (By similarity).				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		ATGTTGCCAAGAGCCCAGACT	0.398000													42	176					0	0	0.003610	0	0
TNIP3	79931	broad.mit.edu	37	4	122078303	122078303	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:122078303C>T	ENST00000454328.1	-	6	536	c.309G>A	c.(307-309)caG>caA	p.Q103Q	TNIP3_ENST00000509841.1_Silent_p.Q180Q|TNIP3_ENST00000507879.1_Silent_p.Q173Q|TNIP3_ENST00000057513.3_Silent_p.Q103Q			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	103										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CGTCCTCTCTCTGCCTGTCGT	0.642000													111	275					0	0	0.003610	0	0
TAF7L	54457	broad.mit.edu	37	X	100532640	100532640	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chrX:100532640C>G	ENST00000372907.3	-	9	914	c.903G>C	c.(901-903)ttG>ttC	p.L301F	TAF7L_ENST00000356784.1_Missense_Mutation_p.L215F|TAF7L_ENST00000324762.6_Missense_Mutation_p.L215F|TAF7L_ENST00000372905.2_Missense_Mutation_p.L215F	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	301					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CCGAGGATATCAAAAATCCTG	0.468000													20	97					0	0	0.008871	0	0
IL4R	3566	broad.mit.edu	37	16	27375021	27375021	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:27375021C>T	ENST00000395762.2	+	11	2607	c.2348C>T	c.(2347-2349)tCg>tTg	p.S783L	IL4R_ENST00000170630.2_Missense_Mutation_p.S783L|IL4R_ENST00000543915.2_Missense_Mutation_p.S783L|IL4R_ENST00000380922.3_Missense_Mutation_p.S768L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	783					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	p.S783L(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTGGCACCCTCGGGCATCTCA	0.612000													19	57					0	0	0.010504	0	0
C16orf89	146556	broad.mit.edu	37	16	5112511	5112511	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:5112511G>A	ENST00000315997.5	-	2	474	c.273C>T	c.(271-273)cgC>cgT	p.R91R	C16orf89_ENST00000350219.4_Silent_p.R129R|C16orf89_ENST00000474471.3_Silent_p.R91R|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000472572.3_Silent_p.R91R|C16orf89_ENST00000422873.1_Silent_p.R129R	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	91						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						GCATCCCCACGCGCAGGCTCA	0.572000													22	59					0	0	0.002299	0	0
MRPL47	57129	broad.mit.edu	37	3	179306692	179306692	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:179306692G>C	ENST00000476781.1	-	7	750	c.721C>G	c.(721-723)Ctt>Gtt	p.L241V	MRPL47_ENST00000392659.2_Missense_Mutation_p.L131V|MRPL47_ENST00000259038.2_Missense_Mutation_p.L221V	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	241					translation	mitochondrial ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			GCTTCAGCAAGATGTGGAAAC	0.343000													13	165					0	0	0.001855	0	0
CEP250	11190	broad.mit.edu	37	20	34054830	34054830	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:34054830C>T	ENST00000397527.1	+	8	1252	c.532C>T	c.(532-534)Ctc>Ttc	p.L178F	CEP250_ENST00000397524.1_Missense_Mutation_p.L178F|CEP250_ENST00000342580.4_Missense_Mutation_p.L178F	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	178					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CGGTCGCCTTCTCAGTCTATG	0.532000													17	45					0	0	0.006122	0	0
DFFB	1677	broad.mit.edu	37	1	3782217	3782217	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:3782217C>T	ENST00000378212.2	+	3	575	c.252C>T	c.(250-252)gtC>gtT	p.V84V	DFFB_ENST00000338895.3_Intron|DFFB_ENST00000378209.3_Intron			O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	0					apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CTGTTGGTGTCAGGGCAAGGA	0.597000													5	20					0	0	0.000602	0	0
AHRR	57491	broad.mit.edu	37	5	434023	434023	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:434023C>T	ENST00000316418.5	+	12	1278	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	AHRR_ENST00000506456.1_Missense_Mutation_p.R250W|AHRR_ENST00000505113.1_Missense_Mutation_p.R394W|AHRR_ENST00000512529.1_Missense_Mutation_p.R240W	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			AGTGACAGGGCGGAGGGAGAC	0.632000													5	37					0	0	0.000602	0	0
ZNF671	79891	broad.mit.edu	37	19	58233748	58233748	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:58233748C>A	ENST00000317398.6	-	3	419	c.324G>T	c.(322-324)tgG>tgT	p.W108C	ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000596939.1_3'UTR|ZNF671_ENST00000335820.3_Missense_Mutation_p.W10C|AC003006.7_ENST00000599221.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	108	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		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;0.0257)		GGTCATACACCCAGGGCTCTT	0.537000													10	209					7.48243e-07	7.85655e-07	0.006214	1	0
TRIP11	9321	broad.mit.edu	37	14	92470322	92470322	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:92470322C>T	ENST00000267622.4	-	11	4371	c.3998G>A	c.(3997-3999)aGt>aAt	p.S1333N		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1333					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTCAGACTTACTTGCTCTAAG	0.383000			T	PDGFRB	AML								12	59					0	0	0.001368	0	0
RCC2	55920	broad.mit.edu	37	1	17749292	17749292	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:17749292C>G	ENST00000375436.4	-	5	751	c.564G>C	c.(562-564)aaG>aaC	p.K188N	RCC2_ENST00000375433.3_Missense_Mutation_p.K188N	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	188					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		CTTCTACTCTCTTGGTGTCAC	0.557000													21	68					0	0	0.003954	0	0
STAT4	6775	broad.mit.edu	37	2	191895766	191895766	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:191895766G>A	ENST00000392320.2	-	23	2466	c.2152C>T	c.(2152-2154)Ctt>Ttt	p.L718F	AC067945.4_ENST00000456176.1_RNA|STAT4_ENST00000358470.4_Missense_Mutation_p.L718F	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	718					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)			GACATGGGAAGAAGGTCTGAT	0.403000													35	146					0	0	0.007835	0	0
ABCA2	20	broad.mit.edu	37	9	139913234	139913234	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:139913234C>T	ENST00000265662.5	-	13	1903	c.1756G>A	c.(1756-1758)Gag>Aag	p.E586K	ABCA2_ENST00000371605.3_Missense_Mutation_p.E585K|ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000341511.6_Missense_Mutation_p.E586K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	585					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)		ATGCTCTCCTCGTCGTGGAAG	0.652000													17	51					0	0	0.004007	0	0
ABCB5	340273	broad.mit.edu	37	7	20739704	20739704	+	Silent	SNP	G	G	T	rs148327292		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:20739704G>T	ENST00000404938.2	+	19	2935	c.2283G>T	c.(2281-2283)ggG>ggT	p.G761G	ABCB5_ENST00000258738.6_Silent_p.G316G	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	316	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						GCAGAGCAGGGGAAATTTTAA	0.284000													12	39					0.00244969	0.0025159	0.002450	1	0
NACA	4666	broad.mit.edu	37	12	57110190	57110190	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57110190C>G	ENST00000454682.1	-	3	5405	c.5124G>C	c.(5122-5124)aaG>aaC	p.K1708N	NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TAGCAGAACTCTTTTTGGTCT	0.522000			T	BCL6	NHL								78	265					0	0	0.003610	0	0
TMEM198	130612	broad.mit.edu	37	2	220412742	220412742	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:220412742C>T	ENST00000344458.2	+	4	1266	c.681C>T	c.(679-681)ctC>ctT	p.L227L	TMEM198_ENST00000373883.3_Silent_p.L227L			Q66K66	TM198_HUMAN	transmembrane protein 198	227	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGCCCCTGCTCAGCCTGATGG	0.667000													3	12					0	0	0.004672	0	0
HTR2A	3356	broad.mit.edu	37	13	47466711	47466711	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:47466711G>A	ENST00000378688.4	-	2	558	c.427C>T	c.(427-429)Ctg>Ttg	p.L143L	HTR2A_ENST00000543956.1_Silent_p.L59L|HTR2A_ENST00000542664.1_Silent_p.L143L			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	143					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)	TTGCTCGGCAGAGGCCACCGG	0.572000													20	84					0	0	0.010504	0	0
XKR3	150165	broad.mit.edu	37	22	17288751	17288751	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:17288751G>A	ENST00000331428.5	-	2	315	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	71						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TAATAAAGCTGATGGTAAATG	0.358000													16	46					0	0	0.004007	0	0
CCDC34	91057	broad.mit.edu	37	11	27384432	27384432	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:27384432C>G	ENST00000317945.6	-	1	349	c.310G>C	c.(310-312)Gag>Cag	p.E104Q	CCDC34_ENST00000328697.6_Missense_Mutation_p.E104Q	NM_080654.2	NP_542385.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	104								p.E104K(1)		endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						ACTTTGGCCTCTGAATCATGG	0.572000													27	81					0	0	0.007291	0	0
FAM135B	51059	broad.mit.edu	37	8	139164359	139164359	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:139164359C>T	ENST00000395297.1	-	13	2529	c.2359G>A	c.(2359-2361)Gac>Aac	p.D787N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	787								p.D787Y(2)|p.D787N(2)		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)			TGCTTGGTGTCCGCATCTTCA	0.522000										HNSCC(54;0.14)			8	55					0	0	0.003080	0	0
SVOP	55530	broad.mit.edu	37	12	109306418	109306418	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:109306418C>A	ENST00000299134.5	-	14	1343	c.1344G>T	c.(1342-1344)aaG>aaT	p.K448N		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						AGTCCTCGGCCTTTGGTCTCA	0.607000													44	79					6.4771e-29	7.17879e-29	0.010771	1	0
USF2	7392	broad.mit.edu	37	19	35761375	35761375	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:35761375A>G	ENST00000222305.3	+	5	492	c.455A>G	c.(454-456)aAt>aGt	p.N152S	USF2_ENST00000595068.1_Missense_Mutation_p.N152S|USF2_ENST00000379134.3_Intron|USF2_ENST00000343550.5_Missense_Mutation_p.N85S|USF2_ENST00000594064.1_Missense_Mutation_p.N150S	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting	152					lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCTTCAGCAATGGTGGCAGT	0.592000													23	53					0	0	0.003954	0	0
OSBPL9	114883	broad.mit.edu	37	1	52246990	52246990	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:52246990G>A	ENST00000371710.3	+	16	1647	c.1465G>A	c.(1465-1467)Gat>Aat	p.D489N	OSBPL9_ENST00000435686.2_Missense_Mutation_p.D306N|OSBPL9_ENST00000462759.1_Missense_Mutation_p.D293N|OSBPL9_ENST00000337809.4_Missense_Mutation_p.D476N|OSBPL9_ENST00000530544.1_Missense_Mutation_p.D390N|OSBPL9_ENST00000447887.1_Missense_Mutation_p.D481N|OSBPL9_ENST00000453295.1_Missense_Mutation_p.D454N|OSBPL9_ENST00000428468.1_Missense_Mutation_p.D471N|OSBPL9_ENST00000531828.1_Missense_Mutation_p.D306N|OSBPL9_ENST00000361556.5_Missense_Mutation_p.D361N|OSBPL9_ENST00000486942.1_Missense_Mutation_p.D293N|OSBPL9_ENST00000371714.1_Missense_Mutation_p.D458N	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	471					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATTACCAAATGATACTGAAGA	0.358000													12	22					0	0	0.001855	0	0
ELMO3	79767	broad.mit.edu	37	16	67237075	67237075	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:67237075G>C	ENST00000393997.2	+	17	1945	c.1888G>C	c.(1888-1890)Gac>Cac	p.D630H	ELMO3_ENST00000360833.1_Missense_Mutation_p.D613H|ELMO3_ENST00000477898.1_Missense_Mutation_p.D464H	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	577	PH.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	p.D630N(1)		cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GCAGTACGGAGACATGGAGGA	0.647000													10	26					0	0	0.008291	0	0
MAP1LC3C	440738	broad.mit.edu	37	1	242162283	242162283	+	Missense_Mutation	SNP	C	C	T	rs141733716	by1000genomes	TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:242162283C>T	ENST00000357246.3	-	1	92	c.28G>A	c.(28-30)Gtc>Atc	p.V10I		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	10					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AAGGGTCTGACGCTTGGGATT	0.458000											OREG0014354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	61					0	0	0.010504	0	0
UACA	55075	broad.mit.edu	37	15	70959538	70959538	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:70959538G>C	ENST00000322954.6	-	16	3670	c.3485C>G	c.(3484-3486)tCt>tGt	p.S1162C	UACA_ENST00000560441.1_Missense_Mutation_p.S1147C|UACA_ENST00000539319.1_Missense_Mutation_p.S1053C|UACA_ENST00000379983.2_Missense_Mutation_p.S1149C	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1162						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GGGTACAGAAGAGTTCTTTTG	0.398000													64	134					0	0	0.003610	0	0
LSM14B	149986	broad.mit.edu	37	20	60706468	60706468	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:60706468G>A	ENST00000253001.4	+	7	1098	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	LSM14B_ENST00000279068.6_Missense_Mutation_p.E298K			Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	298					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CCAGAGTGCCGAAGCGCCCGC	0.537000													7	27					0	0	0.003080	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884017	24884017	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr14:24884017C>G	ENST00000382554.3	+	9	3380	c.3062C>G	c.(3061-3063)tCt>tGt	p.S1021C		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1021					DNA integration	integral to membrane	DNA binding			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						GACCTTGACTCTTCGCTGGCG	0.607000													22	35					0	0	0.002299	0	0
MALAT1	378938	broad.mit.edu	37	11	65272416	65272416	+	RNA	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:65272416C>G	ENST00000534336.1	+	0	7184					NR_002819.2																						ACCACTAGTTCTTTCAGATGG	0.378000													3	17					0	0	0.009096	0	0
CHRNA3	1136	broad.mit.edu	37	15	78894511	78894511	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:78894511G>T	ENST00000326828.5	-	5	857	c.473C>A	c.(472-474)tCc>tAc	p.S158Y	CHRNA3_ENST00000348639.3_Missense_Mutation_p.S158Y	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	158					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GATTTTACAGGAGCTCTTAAA	0.493000													6	93					3.59834e-05	3.73403e-05	0.001168	1	0
FCRL4	83417	broad.mit.edu	37	1	157556066	157556066	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:157556066C>G	ENST00000271532.1	-	6	1162	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	343	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AGCTCCAGCTCTGCTCTCAGG	0.582000													24	70					0	0	0.002299	0	0
RNF145	153830	broad.mit.edu	37	5	158585719	158585719	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:158585719G>A	ENST00000424310.2	-	11	2310	c.1951C>T	c.(1951-1953)Cac>Tac	p.H651Y	RNF145_ENST00000518802.1_Missense_Mutation_p.H681Y|RNF145_ENST00000521606.2_Missense_Mutation_p.H668Y|RNF145_ENST00000274542.2_Missense_Mutation_p.H679Y|RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000519865.1_Missense_Mutation_p.H651Y|RNF145_ENST00000520638.1_Missense_Mutation_p.H665Y	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	651						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCGCACTGTGAGGATATTCT	0.473000													34	159					0	0	0.003271	0	0
OR8S1	341568	broad.mit.edu	37	12	48920205	48920205	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:48920205C>T	ENST00000310194.1	+	1	791	c.791C>T	c.(790-792)tCa>tTa	p.S264L	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						ATGCCAAACTCAGGTTCCCCC	0.498000													24	72					0	0	0.003330	0	0
VPS13B	157680	broad.mit.edu	37	8	100866028	100866028	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:100866028G>A	ENST00000358544.2	+	56	10597	c.10486G>A	c.(10486-10488)Gaa>Aaa	p.E3496K	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.E3471K	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3496					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGAGTTGGAAGAATACAAGGA	0.383000													23	63					0	0	0.012319	0	0
ESRRA	2101	broad.mit.edu	37	11	64082296	64082296	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:64082296G>A	ENST00000405666.1	+	5	889	c.655G>A	c.(655-657)Gat>Aat	p.D219N	ESRRA_ENST00000000442.6_Missense_Mutation_p.D219N|ESRRA_ENST00000406310.1_Missense_Mutation_p.D218N			P11474	ERR1_HUMAN	estrogen-related receptor alpha	219	Ligand binding domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CGCAGGCCCTGATGGGCACCT	0.587000													17	50					0	0	0.004990	0	0
AC010547.9	0	broad.mit.edu	37	16	71512138	71512138	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:71512138G>A	ENST00000561908.1	-	5	769	c.267C>T	c.(265-267)gtC>gtT	p.V89V	ZNF19_ENST00000567225.1_Silent_p.V89V|ZNF19_ENST00000565100.2_Silent_p.V19V|ZNF19_ENST00000564230.1_Silent_p.V89V|ZNF19_ENST00000565637.1_Silent_p.V47V|ZNF19_ENST00000288177.5_Silent_p.V89V																							TACCTTTACAGACGTTTTTGG	0.448000													8	34					0	0	0.004482	0	0
GRIA2	2891	broad.mit.edu	37	4	158224904	158224904	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:158224904C>A	ENST00000296526.7	+	3	755	c.430C>A	c.(430-432)Caa>Aaa	p.Q144K	GRIA2_ENST00000264426.9_Missense_Mutation_p.Q144K|GRIA2_ENST00000449365.1_Missense_Mutation_p.Q97K|GRIA2_ENST00000507898.1_Missense_Mutation_p.Q97K|GRIA2_ENST00000393815.2_Missense_Mutation_p.Q97K	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	144					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TGAATACTATCAATGGGACAA	0.443000													33	106					1.08312e-15	1.18078e-15	0.009535	1	0
C16orf72	29035	broad.mit.edu	37	16	9210763	9210763	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:9210763G>A	ENST00000327827.7	+	4	1219	c.822G>A	c.(820-822)atG>atA	p.M274I		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	274										endometrium(4)|large_intestine(2)|lung(2)	8						GCAACAGAATGATCTAAACTG	0.448000													14	90					0	0	0.003163	0	0
NFATC2	4773	broad.mit.edu	37	20	50140540	50140540	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr20:50140540G>A	ENST00000371564.3	-	2	459	c.240C>T	c.(238-240)ggC>ggT	p.G80G	NFATC2_ENST00000414705.1_Silent_p.G60G|NFATC2_ENST00000396009.3_Silent_p.G80G	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	80					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGGGGGGCTCGCCAGAGAGAC	0.657000													22	75					0	0	0.012319	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48185361	48185361	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:48185361C>T	ENST00000396720.3	+	7	2429	c.2235C>T	c.(2233-2235)ctC>ctT	p.L745L	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	745							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GAGCTGGCCTCGGCCCTCAGG	0.741000													3	7					0	0	0.004672	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125879726	125879726	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:125879726G>C	ENST00000393434.2	-	2	446	c.97C>G	c.(97-99)Cca>Gca	p.P33A	ALDH1L1_ENST00000273450.3_Missense_Mutation_p.P43A|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.P33A|ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.P33A|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.P33A	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	33	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TCCTTGTCTGGAACAGTGAAC	0.572000													15	117					0	0	0.003163	0	0
PARD3B	117583	broad.mit.edu	37	2	206166459	206166459	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:206166459C>T	ENST00000462231.1	+	18	2824	c.2664C>T	c.(2662-2664)ctC>ctT	p.L888L	PARD3B_ENST00000349953.3_Intron|PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000406610.2_Intron|PARD3B_ENST00000351153.1_Intron			Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	0	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AGTTGGTTCTCATTTTGTCTC	0.458000													15	40					0	0	0.004007	0	0
TUBA8	51807	broad.mit.edu	37	22	18604405	18604405	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:18604405G>A	ENST00000330423.3	+	2	236	c.163G>A	c.(163-165)Gag>Aag	p.E55K	TUBA8_ENST00000316027.6_5'UTR	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	55					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CTTTTTCAGCGAGACTGGCAA	0.557000													9	56					0	0	0.004482	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959218	45959218	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:45959218G>A	ENST00000400375.1	-	1	860	c.816C>T	c.(814-816)ctC>ctT	p.L272L	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	272						keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						CGGGGCGGCAGAGGAGGGACA	0.726000													12	22					0	0	0.010729	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555807	155555807	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:155555807G>A	ENST00000295101.2	+	1	997	c.520G>A	c.(520-522)Gcc>Acc	p.A174T	KCNJ3_ENST00000544049.1_Missense_Mutation_p.A174T	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	174					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CATCGTGGACGCCTTCCTCAT	0.597000													13	49					0	0	0.001855	0	0
PPP6R2	9701	broad.mit.edu	37	22	50845240	50845240	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr22:50845240A>G	ENST00000359139.3	+	4	744	c.350A>G	c.(349-351)aAt>aGt	p.N117S	PPP6R2_ENST00000216061.5_Missense_Mutation_p.N117S|PPP6R2_ENST00000395741.3_Missense_Mutation_p.N117S|PPP6R2_ENST00000395744.3_Missense_Mutation_p.N117S	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	117						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CCGCCTCTCAATCCTCTGCTC	0.547000													88	257					0	0	0.003610	0	0
MAMDC4	158056	broad.mit.edu	37	9	139749723	139749723	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:139749723G>A	ENST00000445819.1	+	11	1265	c.1215G>A	c.(1213-1215)caG>caA	p.Q405Q	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Silent_p.Q405Q			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	405	MAM 2.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TGGCCGGGCAGACAGGCCCGG	0.672000													21	22					0	0	0.012319	0	0
MYLIP	29116	broad.mit.edu	37	6	16141928	16141928	+	Silent	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:16141928G>T	ENST00000356840.3	+	3	549	c.351G>T	c.(349-351)gtG>gtT	p.V117V	MYLIP_ENST00000349606.4_5'UTR	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	117	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			AGCAGGCAGTGGAACTCAGTG	0.527000													9	70					3.09899e-07	3.26252e-07	0.004482	1	0
UHMK1	127933	broad.mit.edu	37	1	162470803	162470803	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr1:162470803C>T	ENST00000489294.1	+	3	820	c.662C>T	c.(661-663)tCa>tTa	p.S221L	UHMK1_ENST00000545294.1_Missense_Mutation_p.S147L|UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Missense_Mutation_p.S221L	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	221	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GAATGTACCTCAGCTGTTGAT	0.443000													6	39					0	0	0.001984	0	0
FAM135B	51059	broad.mit.edu	37	8	139164976	139164976	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:139164976G>C	ENST00000395297.1	-	13	1912	c.1742C>G	c.(1741-1743)tCt>tGt	p.S581C		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	581										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)			CTTATCTCTAGAGCTCCTACT	0.478000										HNSCC(54;0.14)			34	95					0	0	0.002836	0	0
BLOC1S3	388552	broad.mit.edu	37	19	45683082	45683082	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:45683082C>G	ENST00000433642.2	+	2	624	c.528C>G	c.(526-528)atC>atG	p.I176M	AC005779.2_ENST00000593083.1_Missense_Mutation_p.I1M|BLOC1S3_ENST00000587722.1_Missense_Mutation_p.I176M	NM_212550.3	NP_997715.1	Q6QNY0	BL1S3_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 3	176					cellular membrane organization|eye development|melanosome organization|platelet activation|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex	identical protein binding			ovary(1)|skin(1)	2		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GTCTGGACATCGTGGCTGGCT	0.726000									Hermansky-Pudlak syndrome				9	22					0	0	0.004482	0	0
GREB1	9687	broad.mit.edu	37	2	11774361	11774361	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr2:11774361G>T	ENST00000381486.2	+	29	5396	c.5096G>T	c.(5095-5097)tGg>tTg	p.W1699L	GREB1_ENST00000396123.1_Missense_Mutation_p.W697L|GREB1_ENST00000234142.5_Missense_Mutation_p.W1699L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1699						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)		CTGCGGAAGTGGTCCAGCAAG	0.607000													16	64					6.31663e-08	6.67638e-08	0.003163	1	0
GPR98	84059	broad.mit.edu	37	5	90074289	90074289	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr5:90074289C>T	ENST00000405460.2	+	63	12808	c.12712C>T	c.(12712-12714)Cag>Tag	p.Q4238*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4238	Calx-beta 28.				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)		CTATGAGTTTCAGCTCACTGC	0.468000													7	20					0	0	0.001984	0	0
TIAM1	7074	broad.mit.edu	37	21	32493057	32493057	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr21:32493057T>C	ENST00000286827.3	-	29	4876	c.4405A>G	c.(4405-4407)Aaa>Gaa	p.K1469E	TIAM1_ENST00000541036.1_Missense_Mutation_p.K1409E	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1469					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						TGGGACTCTTTCTCCGGGCTG	0.577000													3	58					0	0	0.004672	0	0
THAP1	55145	broad.mit.edu	37	8	42693174	42693174	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr8:42693174G>A	ENST00000254250.3	-	3	803	c.573C>T	c.(571-573)gaC>gaT	p.D191D	THAP1_ENST00000345117.2_3'UTR	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated protein 1	191					cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CTGATACGTCGTCTTTCTCTT	0.388000													24	87					0	0	0.003330	0	0
DNAH1	25981	broad.mit.edu	37	3	52382931	52382931	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:52382931G>A	ENST00000420323.2	+	13	2395	c.2134G>A	c.(2134-2136)Ggt>Agt	p.G712S		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	712	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTTCATCAGCGGTGACCCCCT	0.617000													6	78					0	0	0.001984	0	0
PTPRD	5789	broad.mit.edu	37	9	8524994	8524994	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:8524994T>C	ENST00000381196.4	-	15	1153	c.610A>G	c.(610-612)Aaa>Gaa	p.K204E	PTPRD_ENST00000397617.3_Missense_Mutation_p.K198E|PTPRD_ENST00000358503.5_Missense_Mutation_p.K195E|PTPRD_ENST00000540109.1_Missense_Mutation_p.K204E|PTPRD_ENST00000360074.4_Missense_Mutation_p.K195E|PTPRD_ENST00000486161.1_Missense_Mutation_p.K204E|PTPRD_ENST00000537002.1_Missense_Mutation_p.K201E|PTPRD_ENST00000356435.5_Missense_Mutation_p.K204E|PTPRD_ENST00000355233.5_Missense_Mutation_p.K204E|PTPRD_ENST00000397606.3_Missense_Mutation_p.K198E|PTPRD_ENST00000397611.3_Missense_Mutation_p.K201E	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	204	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CACTCATATTTTCCTTGGTCA	0.458000										TSP Lung(15;0.13)			49	135					0	0	0.003610	0	0
MALAT1	378938	broad.mit.edu	37	11	65272480	65272480	+	RNA	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:65272480G>A	ENST00000534336.1	+	0	7248					NR_002819.2																						TGGACAAAATGAGGAAAACAG	0.368000													10	26					0	0	0.008291	0	0
PLCH1	23007	broad.mit.edu	37	3	155200497	155200497	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr3:155200497C>T	ENST00000460012.1	-	23	3585	c.3228G>A	c.(3226-3228)gaG>gaA	p.E1076E	PLCH1_ENST00000414191.1_Silent_p.E1076E|PLCH1_ENST00000340059.7_Silent_p.E1114E|PLCH1_ENST00000334686.6_Silent_p.E1076E|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1114					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)			CCACAAAGTCCTCAGGATTAC	0.478000													28	112					0	0	0.004656	0	0
MALAT1	378938	broad.mit.edu	37	11	65272556	65272556	+	RNA	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:65272556G>A	ENST00000534336.1	+	0	7324					NR_002819.2																						GTATTGAATAGATTTCAGCTT	0.413000													17	45					0	0	0.004990	0	0
PPP1R18	170954	broad.mit.edu	37	6	30647097	30647097	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:30647097C>G	ENST00000274853.3	-	2	3557	c.1681G>C	c.(1681-1683)Gag>Cag	p.E561Q	PPP1R18_ENST00000399199.3_Missense_Mutation_p.E561Q|PPP1R18_ENST00000488324.1_5'UTR	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	561						cytoplasm|cytoskeleton	actin binding										CCCAGCTCCTCCAGTACCGAA	0.627000													24	46					0	0	0.003954	0	0
ZNF76	7629	broad.mit.edu	37	6	35260660	35260660	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:35260660G>T	ENST00000373953.3	+	11	1434	c.1168G>T	c.(1168-1170)Gcc>Tcc	p.A390S	ZNF76_ENST00000440666.2_Missense_Mutation_p.A364S|ZNF76_ENST00000339411.5_Missense_Mutation_p.A390S	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	390					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TCTCCCAGCCGCCTCTGCAGC	0.617000													9	88					2.74318e-10	2.93833e-10	0.006214	1	0
KIAA1549	57670	broad.mit.edu	37	7	138603406	138603406	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:138603406G>A	ENST00000440172.1	-	2	1014	c.966C>T	c.(964-966)taC>taT	p.Y322Y	KIAA1549_ENST00000242365.4_Silent_p.Y272Y|KIAA1549_ENST00000422774.1_Silent_p.Y322Y	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	322						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCACATCAGTGTATCTGTCTG	0.542000			O	BRAF	pilocytic astrocytoma								36	48					0	0	0.003755	0	0
TAOK2	9344	broad.mit.edu	37	16	29994909	29994909	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr16:29994909C>T	ENST00000308893.4	+	13	2389	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	TAOK2_ENST00000416441.2_Missense_Mutation_p.S276F|TAOK2_ENST00000279394.3_Missense_Mutation_p.S449F|TAOK2_ENST00000543033.1_Missense_Mutation_p.S449F	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	449					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCTCCCACTTCCACCACCTCT	0.622000													9	466					0	0	0.004482	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49967126	49967126	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:49967126G>A	ENST00000293350.4	+	9	1277	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	ALDH16A1_ENST00000455361.2_Missense_Mutation_p.D321N|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.D209N|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.D207N|CTD-3148I10.9_ENST00000599536.1_Silent_p.*7*	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	372							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CCAGGCTGGTGATGTGCCTTC	0.602000													49	221					0	0	0.003610	0	0
PRDM11	56981	broad.mit.edu	37	11	45241256	45241256	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:45241256G>A	ENST00000263765.4	+	7	1041	c.792G>A	c.(790-792)atG>atA	p.M264I	CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000530656.1_Missense_Mutation_p.M264I|PRDM11_ENST00000424263.2_Missense_Mutation_p.M230I|PRDM11_ENST00000528980.1_3'UTR			Q9NQV5	PRD11_HUMAN	PR domain containing 11	264	SET.									endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGGACTACATGAAGCGCCTGC	0.637000													13	31					0	0	0.001368	0	0
C12orf57	113246	broad.mit.edu	37	12	7054986	7054986	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:7054986G>A	ENST00000537087.1	+	3	483	c.195G>A	c.(193-195)gaG>gaA	p.E65E	C12orf57_ENST00000542222.1_3'UTR|C12orf57_ENST00000540506.2_Silent_p.E59E|C12orf57_ENST00000229281.5_Silent_p.E94E			Q99622	C10_HUMAN	chromosome 12 open reading frame 57	94										kidney(1)|large_intestine(1)	2						AGGATCCTGAGATCGCCAGCC	0.617000													8	26					0	0	0.003080	0	0
NACA	4666	broad.mit.edu	37	12	57108149	57108149	+	Silent	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57108149C>A	ENST00000454682.1	-	5	6101	c.5820G>T	c.(5818-5820)cgG>cgT	p.R1940R	NACA_ENST00000356769.3_Silent_p.R77R|NACA_ENST00000546392.1_Silent_p.R77R|NACA_ENST00000551793.1_5'UTR|NACA_ENST00000550952.1_Silent_p.R787R|NACA_ENST00000552540.1_Silent_p.R77R|NACA_ENST00000393891.4_Silent_p.R77R|NACA_ENST00000548563.1_5'UTR	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	77					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						ATCTTACCTTCCGTGCCTTCT	0.398000			T	BCL6	NHL								10	47					4.68919e-08	4.96942e-08	0.008291	1	0
ABCA2	20	broad.mit.edu	37	9	139910547	139910547	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr9:139910547C>T	ENST00000265662.5	-	22	3331	c.3184G>A	c.(3184-3186)Gag>Aag	p.E1062K	ABCA2_ENST00000371605.3_Missense_Mutation_p.E1061K|ABCA2_ENST00000341511.6_Missense_Mutation_p.E1062K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1061	ABC transporter 1.				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)		TTGCGGATCTCATCCATCTCC	0.612000													31	63					0	0	0.003271	0	0
SLTM	79811	broad.mit.edu	37	15	59181735	59181735	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr15:59181735C>T	ENST00000380516.2	-	16	2185	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K	SLTM_ENST00000536328.1_Missense_Mutation_p.E269K	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	700	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCAATCCGTTCAGCTTCCTTA	0.408000													14	23					0	0	0.001855	0	0
NACA	4666	broad.mit.edu	37	12	57112459	57112459	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr12:57112459C>T	ENST00000454682.1	-	3	3136	c.2855G>A	c.(2854-2856)gGa>gAa	p.G952E	NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGCTGGGCCTCCTTTAGGGGA	0.642000			T	BCL6	NHL								18	53					0	0	0.006122	0	0
LOC494141	494141	broad.mit.edu	37	11	18231217	18231217	+	Translation_Start_Site	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:18231217G>T	ENST00000527059.1	+	1	463	c.3G>T	c.(1-3)atG>atT	p.M1I	RP11-113D6.10_ENST00000340135.3_Start_Codon_SNP_p.M1I|RP11-113D6.10_ENST00000534640.1_Start_Codon_SNP_p.M1I																							AGTCCTTCATGAAAAAAGAAG	0.333000													9	16					1.12685e-05	1.17239e-05	0.004482	1	0
ARID4B	51742	broad.mit.edu	37	1	235345584	235345584	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:235345584C>A	ENST00000264183.3	-	20	3147	c.2650G>T	c.(2650-2652)Gaa>Taa	p.E884*	ARID4B_ENST00000349213.3_Nonsense_Mutation_p.E798*|ARID4B_ENST00000366603.2_Nonsense_Mutation_p.E884*	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	884					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTTCTTTTTTCCTCCAAACCA	0.343000													7	101					0.00307968	0.00315538	0.003080	1	0
GRAMD1A	57655	broad.mit.edu	37	19	35502416	35502416	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:35502416C>T	ENST00000599564.1	+	8	896	c.825C>T	c.(823-825)ttC>ttT	p.F275F	GRAMD1A_ENST00000411896.2_Silent_p.F181F|GRAMD1A_ENST00000317991.5_Silent_p.F188F|GRAMD1A_ENST00000504615.2_5'UTR			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	188						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACCGCTGCTTCCTCCTCATCT	0.617000													11	129					0	0	0.002450	0	0
SDHAP1	255812	broad.mit.edu	37	3	195698269	195698269	+	RNA	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:195698269G>C	ENST00000427841.1	-	0	1603					NR_003264.2																						CAACATTCGTGACAGATTCTT	0.398000													7	71					0	0	0.003080	0	0
IMPA2	3613	broad.mit.edu	37	18	12028874	12028874	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr18:12028874C>T	ENST00000269159.3	+	7	875	c.633C>T	c.(631-633)ctC>ctT	p.L211L	IMPA2_ENST00000589238.1_Silent_p.L22L|IMPA2_ENST00000588927.1_Silent_p.L22L	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	211					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	CATTGGCACTCTGCCACCTGG	0.617000													42	63					0	0	0.010771	0	0
RIPK1	8737	broad.mit.edu	37	6	3081283	3081283	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr6:3081283G>C	ENST00000259808.4	+	4	690	c.392G>C	c.(391-393)gGa>gCa	p.G131A	RIPK1_ENST00000380409.2_Missense_Mutation_p.G131A|RIPK1_ENST00000541791.1_Intron|RIPK1_ENST00000479389.1_3'UTR			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	131	Protein kinase.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TACTTACATGGAAAAGGCGTG	0.368000													13	42					0	0	0.001368	0	0
FLG2	388698	broad.mit.edu	37	1	152323370	152323370	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:152323370G>A	ENST00000388718.5	-	3	6964	c.6892C>T	c.(6892-6894)Cat>Tat	p.H2298Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2298							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)			GTCTGTCCATGAGTAGTTTCC	0.483000													25	313					0	0	0.002780	0	0
MALAT1	378938	broad.mit.edu	37	11	65272924	65272924	+	RNA	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:65272924G>A	ENST00000534336.1	+	0	7692					NR_002819.2																						AATCTCAAGCGGTGCTTGAAG	0.463000													15	70					0	0	0.008871	0	0
WDR31	114987	broad.mit.edu	37	9	116083793	116083793	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr9:116083793G>A	ENST00000374193.4	-	8	882	c.636C>T	c.(634-636)ctC>ctT	p.L212L	WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000374195.3_Silent_p.L87L|WDR31_ENST00000341761.4_Silent_p.L211L	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	212										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						AAGCCCACCTGAGGGTTTTAT	0.478000													13	26					0	0	0.002450	0	0
ACIN1	22985	broad.mit.edu	37	14	23549752	23549752	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:23549752C>G	ENST00000262710.1	-	6	1293	c.966G>C	c.(964-966)gaG>gaC	p.E322D	ACIN1_ENST00000555053.1_Missense_Mutation_p.E322D|ACIN1_ENST00000605057.1_Missense_Mutation_p.E264D|ACIN1_ENST00000457657.1_Missense_Mutation_p.E282D	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	322	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TTTTGGGTCTCTCATCCATCA	0.463000													30	83					0	0	0.007291	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104245125	104245125	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:104245125C>G	ENST00000202556.9	-	4	593	c.311G>C	c.(310-312)aGa>aCa	p.R104T		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	104					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)				TATTACATTTCTCTGAGTTCG	0.363000													17	42					0	0	0.006122	0	0
IGSF21	84966	broad.mit.edu	37	1	18703351	18703351	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:18703351G>A	ENST00000251296.1	+	8	1542	c.1159G>A	c.(1159-1161)Gac>Aac	p.D387N	IGSF21_ENST00000473951.1_3'UTR	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	387	Ig-like 2.					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)		CCGCCTCCTGGACGGCAGCGC	0.657000													20	43					0	0	0.007413	0	0
OR4D2	124538	broad.mit.edu	37	17	56247319	56247319	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:56247319C>G	ENST00000545221.1	+	1	303	c.303C>G	c.(301-303)atC>atG	p.I101M		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	101					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						TGGGTCAGATCTTCTTCTTCC	0.527000													10	121					0	0	0.006214	0	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709486	31709486	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr21:31709486G>A	ENST00000382835.2	-	1	526	c.501C>T	c.(499-501)aaC>aaT	p.N167N		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	167						intermediate filament				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						TGGATTCAGGGTTCTGAGACT	0.478000													31	78					0	0	0.010818	0	0
TTL	150465	broad.mit.edu	37	2	113258890	113258890	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:113258890G>C	ENST00000233336.5	+	4	768	c.577G>C	c.(577-579)Gag>Cag	p.E193Q		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	193	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		TCTGCTGCTTGAGCCAGGTCA	0.463000			T	ETV6	ALL								13	49					0	0	0.001368	0	0
SETD5	55209	broad.mit.edu	37	3	9517533	9517533	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:9517533C>T	ENST00000402466.1	+	24	4561	c.3793C>T	c.(3793-3795)Cag>Tag	p.Q1265*	SETD5_ENST00000402198.1_Nonsense_Mutation_p.Q1363*|SETD5_ENST00000407969.1_Nonsense_Mutation_p.Q1382*|SETD5_ENST00000302463.6_Nonsense_Mutation_p.Q1265*|SETD5_ENST00000406341.1_Nonsense_Mutation_p.Q1363*			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1363	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TTCAGTTTCTCAGTCCAGCAC	0.552000													19	22					0	0	0.008871	0	0
C4orf45	152940	broad.mit.edu	37	4	159836377	159836377	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr4:159836377G>A	ENST00000434826.2	-	4	575	c.491C>T	c.(490-492)tCa>tTa	p.S164L	C4orf45_ENST00000508011.1_5'UTR	NM_152543.2	NP_689756.2	Q96LM5	CD045_HUMAN	chromosome 4 open reading frame 45	164										large_intestine(2)|lung(3)	5						TCTTGGCAATGATGACTTACA	0.423000													12	24					0	0	0.001855	0	0
SELO	83642	broad.mit.edu	37	22	50654234	50654234	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr22:50654234G>A	ENST00000380903.2	+	6	1498	c.1440G>A	c.(1438-1440)ctG>ctA	p.L480L	RP3-402G11.5_ENST00000492092.1_3'UTR	NM_031454.1	NP_113642.1																					TGGCCAGGCTGATGGAGCAGT	0.587000													31	63					0	0	0.007291	0	0
NEB	4703	broad.mit.edu	37	2	152381070	152381070	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:152381070C>G	ENST00000397345.3	-	152	22535	c.22333G>C	c.(22333-22335)Gac>Cac	p.D7445H	NEB_ENST00000604864.1_Missense_Mutation_p.D7445H|NEB_ENST00000603639.1_Missense_Mutation_p.D7445H|NEB_ENST00000409198.1_Missense_Mutation_p.D5744H|NEB_ENST00000427231.2_Missense_Mutation_p.D7445H|NEB_ENST00000172853.10_Missense_Mutation_p.D5744H	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5744					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)		TTCTTGATGTCTGGTCGATCA	0.502000													49	146					0	0	0.003610	0	0
MIB1	57534	broad.mit.edu	37	18	19429231	19429231	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr18:19429231C>G	ENST00000261537.6	+	17	2732	c.2468C>G	c.(2467-2469)tCa>tGa	p.S823*	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	823					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			ATGGTGTGCTCAGATATGAAG	0.378000													50	127					0	0	0.003610	0	0
PACSIN2	11252	broad.mit.edu	37	22	43272287	43272287	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr22:43272287C>G	ENST00000263246.3	-	10	1405	c.1204G>C	c.(1204-1206)Gag>Cag	p.E402Q	PACSIN2_ENST00000403744.3_Missense_Mutation_p.E402Q|PACSIN2_ENST00000407585.1_Missense_Mutation_p.E361Q|PACSIN2_ENST00000402229.1_Missense_Mutation_p.E402Q|PACSIN2_ENST00000337959.4_Missense_Mutation_p.E361Q|PACSIN2_ENST00000496919.1_5'UTR	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	402					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				TTGTTAGACTCATCGTCTGAC	0.617000													14	51					0	0	0.003163	0	0
CDH13	1012	broad.mit.edu	37	16	83636065	83636065	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:83636065G>C	ENST00000566620.1	+	8	1257	c.967G>C	c.(967-969)Gaa>Caa	p.E323Q	CDH13_ENST00000268613.10_Missense_Mutation_p.E370Q|CDH13_ENST00000428848.3_Missense_Mutation_p.E284Q	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	323	Cadherin 2.				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)		GTAGACTCTGGAAAATCCCAA	0.463000													67	241					0	0	0.003610	0	0
LRRC37B	114659	broad.mit.edu	37	17	30376383	30376383	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:30376383G>C	ENST00000327564.7	+	10	2788	c.2727G>C	c.(2725-2727)caG>caC	p.Q909H	LRRC37B_ENST00000394713.3_Missense_Mutation_p.Q831H|LRRC37B_ENST00000584368.1_Missense_Mutation_p.Q843H|LRRC37B_ENST00000543378.2_Missense_Mutation_p.Q800H|LRRC37B_ENST00000341671.7_Missense_Mutation_p.Q882H			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	882						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ACATGGAACAGAATGAACAGA	0.433000													4	9					0	0	0.009096	0	0
FCGR2A	2212	broad.mit.edu	37	1	161476260	161476260	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:161476260C>G	ENST00000271450.6	+	3	281	c.243C>G	c.(241-243)ctC>ctG	p.L81L	FCGR2A_ENST00000367972.4_Silent_p.L80L|FCGR2A_ENST00000467525.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	81	Ig-like C2-type 1.					integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATGGGAATCTCATTCCCACCC	0.597000													13	75					0	0	0.006122	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662840	662840	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:662840G>A	ENST00000266383.5	+	14	1764	c.1751G>A	c.(1750-1752)gGa>gAa	p.G584E		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	584						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CAGGCCCCTGGAAGGGGCTGG	0.642000													9	36					0	0	0.008291	0	0
USPL1	10208	broad.mit.edu	37	13	31232715	31232715	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr13:31232715C>T	ENST00000255304.4	+	9	2843	c.2501C>T	c.(2500-2502)tCg>tTg	p.S834L		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	834					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GGCCCTCCATCGTCTAATGGC	0.507000													17	70					0	0	0.006122	0	0
CCNG2	901	broad.mit.edu	37	4	78079754	78079754	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr4:78079754C>G	ENST00000316355.5	+	2	425	c.69C>G	c.(67-69)gtC>gtG	p.V23V	CCNG2_ENST00000395640.1_Silent_p.V23V|CCNG2_ENST00000502280.1_Silent_p.V23V|CCNG2_ENST00000354403.5_Silent_p.V23V|CCNG2_ENST00000509972.1_Silent_p.V23V|CCNG2_ENST00000497512.1_3'UTR	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	23					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TGTTGAACGTCTACCTGGAAC	0.478000													28	87					0	0	0.005443	0	0
BID	637	broad.mit.edu	37	22	18220787	18220787	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr22:18220787C>T	ENST00000317361.7	-	5	1036	c.710G>A	c.(709-711)aGa>aAa	p.R237K	BID_ENST00000399774.3_Missense_Mutation_p.R191K|BID_ENST00000342111.5_3'UTR|BID_ENST00000399765.1_Missense_Mutation_p.R95K|BID_ENST00000551952.1_Missense_Mutation_p.R191K|BID_ENST00000399767.1_Missense_Mutation_p.R95K	NM_197966.2	NP_932070.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	191					activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding	p.R237K(1)		large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		TCTTACATTTCTGGCTAAGCT	0.552000													24	66					0	0	0.002780	0	0
LILRA6	79168	broad.mit.edu	37	19	54744933	54744933	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:54744933G>A	ENST00000440558.2	-	5	777	c.729C>T	c.(727-729)ctC>ctT	p.L243L	LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000396365.2_Silent_p.L243L|LILRA6_ENST00000245621.5_Silent_p.L243L|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Silent_p.L243L					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6									p.L243L(1)		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)		AGCCACACTGGAGGGTCAGGC	0.637000													13	95					0	0	0.003163	0	0
ZNF766	90321	broad.mit.edu	37	19	52793884	52793884	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:52793884C>T	ENST00000439461.1	+	4	883	c.840C>T	c.(838-840)ttC>ttT	p.F280F	ZNF766_ENST00000359102.4_Silent_p.F295F|ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000593612.1_Silent_p.F295F|CTD-2525I3.5_ENST00000594865.1_RNA	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		GCAAGGTCTTCAGTCGAATTA	0.403000													7	24					0	0	0.001984	0	0
FLG	2312	broad.mit.edu	37	1	152283709	152283709	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:152283709C>G	ENST00000368799.1	-	3	3688	c.3653G>C	c.(3652-3654)aGa>aCa	p.R1218T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1218	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)			ACGAGTTTGTCTGCTTGCACT	0.552000									Ichthyosis				126	378					0	0	0.003610	0	0
ZNF608	57507	broad.mit.edu	37	5	123984351	123984351	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:123984351G>A	ENST00000306315.5	-	4	2161	c.1726C>T	c.(1726-1728)Cat>Tat	p.H576Y	ZNF608_ENST00000504926.1_Missense_Mutation_p.H149Y	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	576						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		AAGTGTGCATGAGCCTGGTGG	0.493000													28	89					0	0	0.006320	0	0
ODAM	54959	broad.mit.edu	37	4	71068032	71068032	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr4:71068032G>A	ENST00000396094.2	+	8	682	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	212					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CACAGCTCCTGAAATTGCTGT	0.373000													12	34					0	0	0.001855	0	0
TMEM108	66000	broad.mit.edu	37	3	133109176	133109176	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:133109176G>A	ENST00000321871.6	+	5	1813	c.1603G>A	c.(1603-1605)Gag>Aag	p.E535K	TMEM108_ENST00000508711.1_Missense_Mutation_p.E65K|TMEM108_ENST00000393130.3_Missense_Mutation_p.E535K	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	535						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGAAACCTCTGAGGTAATGAG	0.532000													43	227					0	0	0.008740	0	0
GBA2	57704	broad.mit.edu	37	9	35737182	35737182	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr9:35737182T>A	ENST00000378103.3	-	17	3291	c.2768A>T	c.(2767-2769)aAc>aTc	p.N923I	GBA2_ENST00000378088.1_3'UTR|GBA2_ENST00000378094.4_3'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.N929I	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	923					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGGCTCAGGTTTGCCATGGC	0.572000													10	89					0	0	0.008291	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12823101	12823101	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:12823101G>A	ENST00000379672.5	+	6	717	c.417G>A	c.(415-417)agG>agA	p.R139R	ARHGAP44_ENST00000262444.9_Silent_p.R139R|ARHGAP44_ENST00000340825.3_Silent_p.R139R	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	139	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						AAAAGCAGAGGAAACACTTAG	0.378000													3	12					0	0	0.004672	0	0
OSCP1	127700	broad.mit.edu	37	1	36883811	36883811	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:36883811C>G	ENST00000356637.5	-	11	1162	c.1099G>C	c.(1099-1101)Gag>Cag	p.E367Q	OSCP1_ENST00000495222.1_5'UTR|OSCP1_ENST00000433045.2_Missense_Mutation_p.E312Q|OSCP1_ENST00000315643.9_Intron|OSCP1_ENST00000235532.5_Missense_Mutation_p.E357Q			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	367					transport	basal plasma membrane		p.E367Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						TCCGTGATCTCAAACTCCCCC	0.577000													7	36					0	0	0.001984	0	0
LEPREL1	55214	broad.mit.edu	37	3	189681803	189681803	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:189681803C>T	ENST00000319332.5	-	14	2175	c.1978G>A	c.(1978-1980)Gga>Aga	p.G660R	LEPREL1_ENST00000427335.2_Missense_Mutation_p.G479R	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	660	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CACCTCTTTCCCTTGGTGACT	0.493000													26	151					0	0	0.004656	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959828	45959828	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr21:45959828G>A	ENST00000400375.1	-	1	250	c.206C>T	c.(205-207)tCa>tTa	p.S69L	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	69	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GGTGCAGCCTGATTGGCAGGG	0.716000													20	75					0	0	0.012319	0	0
WDFY3	23001	broad.mit.edu	37	4	85672736	85672736	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr4:85672736G>C	ENST00000322366.6	-	36	6280	c.5873C>G	c.(5872-5874)gCt>gGt	p.A1958G	WDFY3_ENST00000295888.4_Missense_Mutation_p.A1958G			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1958						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GAACTTTTTAGCCGGGTGATT	0.458000													38	91					0	0	0.004289	0	0
CC2D1A	54862	broad.mit.edu	37	19	14020719	14020719	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:14020719C>T	ENST00000318003.7	+	2	385	c.144C>T	c.(142-144)ttC>ttT	p.F48F	CC2D1A_ENST00000589606.1_Silent_p.F48F	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	48					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AGGCTGAGTTCTTGGCTTTGG	0.567000													20	67					0	0	0.008871	0	0
TMEM53	79639	broad.mit.edu	37	1	45120816	45120816	+	Silent	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:45120816G>T	ENST00000372237.3	-	3	412	c.249C>A	c.(247-249)atC>atA	p.I83I	TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372235.3_Intron|TMEM53_ENST00000372242.3_Silent_p.I83I	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	83						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					GAAGTGAAGGGATACCCAGTG	0.552000											OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	47					4.68919e-08	4.96502e-08	0.008291	1	0
AIP	9049	broad.mit.edu	37	11	67254633	67254633	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:67254633G>C	ENST00000279146.3	+	2	374	c.256G>C	c.(256-258)Gcc>Ccc	p.A86P		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	86	PPIase FKBP-type.				protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						AGGGGAGATTGCCCAGTTCCT	0.582000									Familial Isolated Pituitary Adenoma				11	129					0	0	0.001368	0	0
ZNF10	7556	broad.mit.edu	37	12	133732691	133732691	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:133732691C>T	ENST00000248211.6	+	5	1081	c.859C>T	c.(859-861)Cat>Tat	p.H287Y	ZNF10_ENST00000402932.2_Missense_Mutation_p.H153Y|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000426665.2_Missense_Mutation_p.H287Y|ZNF268_ENST00000416488.1_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TCAGCTTATTCATACTGGAGA	0.418000													16	39					0	0	0.004990	0	0
TNK2	10188	broad.mit.edu	37	3	195595101	195595101	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:195595101C>G	ENST00000333602.6	-	12	2640	c.2023G>C	c.(2023-2025)Gag>Cag	p.E675Q	TNK2_ENST00000428187.1_Missense_Mutation_p.E707Q|TNK2_ENST00000392400.1_Missense_Mutation_p.E675Q|TNK2_ENST00000381916.2_Missense_Mutation_p.E753Q	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	675	Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CGCGCCTGCTCAGGCACAAAG	0.682000													10	72					0	0	0.006214	0	0
TMC2	117532	broad.mit.edu	37	20	2560666	2560666	+	Silent	SNP	T	T	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr20:2560666T>A	ENST00000358864.1	+	7	813	c.798T>A	c.(796-798)ctT>ctA	p.L266L		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	266						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ACCTTGTCCTTTTTGGCTTAA	0.393000													6	82					0	0	0.003080	0	0
MCTS1	28985	broad.mit.edu	37	X	119738100	119738100	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chrX:119738100G>C	ENST00000371317.5	+	1	266	c.9G>C	c.(7-9)aaG>aaC	p.K3N		NM_014060.2	NP_054779.1	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1	3					cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						TCATGTTCAAGAAGTAAGGAC	0.582000													8	24					0	0	0.006214	0	0
S100A14	57402	broad.mit.edu	37	1	153587810	153587810	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:153587810G>C	ENST00000368702.1	-	4	350	c.78C>G	c.(76-78)atC>atG	p.I26M	S100A14_ENST00000368701.1_Missense_Mutation_p.I26M|S100A14_ENST00000344616.2_Missense_Mutation_p.I26M|S100A14_ENST00000476873.1_Missense_Mutation_p.I26M|S100A14_ENST00000368700.3_5'UTR			Q9HCY8	S10AE_HUMAN	S100 calcium binding protein A14	26					calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway	cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm	calcium ion binding|chemokine receptor binding			kidney(2)|large_intestine(1)|lung(1)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAAAGTTCTTGATGAGGGTCT	0.572000													20	38					0	0	0.007413	0	0
TRIP11	9321	broad.mit.edu	37	14	92471181	92471181	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:92471181C>G	ENST00000267622.4	-	11	3512	c.3139G>C	c.(3139-3141)Gat>Cat	p.D1047H		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1047					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GACAACTGATCAATCTGTTTA	0.328000			T	PDGFRB	AML								9	41					0	0	0.004482	0	0
NAB2	4665	broad.mit.edu	37	12	57484986	57484986	+	Silent	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:57484986C>A	ENST00000300131.3	+	2	540	c.162C>A	c.(160-162)ctC>ctA	p.L54L	NAB2_ENST00000554718.1_Intron|NAB2_ENST00000357680.4_Silent_p.L54L|NAB2_ENST00000342556.6_Silent_p.L54L	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	54	NCD1.				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GCGCCAACCTCCTTTCCTACT	0.632000													25	102					7.88262e-20	8.67089e-20	0.003330	1	0
FERMT3	83706	broad.mit.edu	37	11	63990903	63990903	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:63990903G>A	ENST00000279227.5	+	15	2038	c.1943G>A	c.(1942-1944)cGt>cAt	p.R648H	FERMT3_ENST00000345728.5_Missense_Mutation_p.R644H	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	648					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GAGCGGGCCCGTGGGGAGGAG	0.612000													8	42					0	0	0.004482	0	0
TRIP11	9321	broad.mit.edu	37	14	92471643	92471643	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:92471643C>T	ENST00000267622.4	-	11	3050	c.2677G>A	c.(2677-2679)Gaa>Aaa	p.E893K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	893					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GATGCTAGTTCAGTAACACTA	0.403000			T	PDGFRB	AML								18	89					0	0	0.007413	0	0
NACA	4666	broad.mit.edu	37	12	57106861	57106861	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:57106861C>G	ENST00000454682.1	-	7	6365	c.6084G>C	c.(6082-6084)gaG>gaC	p.E2028D	NACA_ENST00000393891.4_Missense_Mutation_p.E165D|NACA_ENST00000550952.1_Missense_Mutation_p.E875D|NACA_ENST00000552540.1_Missense_Mutation_p.E165D|NACA_ENST00000548563.1_Missense_Mutation_p.E86D|NACA_ENST00000546392.1_Missense_Mutation_p.E165D|NACA_ENST00000356769.3_Missense_Mutation_p.E165D	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	165					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CCTCTTCACTCTCCTCTTGTA	0.403000			T	BCL6	NHL								7	41					0	0	0.003080	0	0
TMEM140	55281	broad.mit.edu	37	7	134849728	134849728	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr7:134849728G>C	ENST00000275767.2	+	2	758	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	C7orf49_ENST00000459937.1_Intron	NM_018295.4	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	179						integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						TGAGAGGGCTGAGAGCAAGCT	0.557000													14	30					0	0	0.003163	0	0
NACC1	112939	broad.mit.edu	37	19	13247198	13247198	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:13247198G>T	ENST00000292431.4	+	3	1225	c.1099G>T	c.(1099-1101)Gag>Tag	p.E367*		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	367					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						CGACCCCTCTGAGAAGCTGGA	0.652000													14	51					4.14922e-12	4.47099e-12	0.004007	1	0
HOMER2	9455	broad.mit.edu	37	15	83518566	83518566	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:83518566C>T	ENST00000304231.8	-	9	1158	c.966G>A	c.(964-966)ctG>ctA	p.L322L	HOMER2_ENST00000426485.1_Silent_p.L267L|HOMER2_ENST00000450735.2_Silent_p.L311L|HOMER2_ENST00000399166.2_Silent_p.L256L	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	322					metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						ACTCCACCTTCAGGTGGCGCT	0.547000											OREG0023389	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	55					0	0	0.004656	0	0
PI4KA	5297	broad.mit.edu	37	22	21107310	21107310	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr22:21107310C>T	ENST00000255882.6	-	25	2954	c.2868G>A	c.(2866-2868)aaG>aaA	p.K956K	PI4KA_ENST00000572273.1_Silent_p.K898K	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	898					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TCTCCTTGGTCTTGGCCTAGA	0.537000													29	50					0	0	0.007291	0	0
AAK1	22848	broad.mit.edu	37	2	69704114	69704114	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:69704114C>T	ENST00000409085.4	-	21	3065	c.2689G>A	c.(2689-2691)Gat>Aat	p.D897N	AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	897						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						AGATTACTATCTTCTGCAGCT	0.423000													3	11					0	0	0.004672	0	0
C16orf62	57020	broad.mit.edu	37	16	19659193	19659193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:19659193C>T	ENST00000438132.3	+	24	2332	c.2284C>T	c.(2284-2286)Cag>Tag	p.Q762*	C16orf62_ENST00000417362.2_Nonsense_Mutation_p.Q606*|C16orf62_ENST00000448695.1_Nonsense_Mutation_p.Q523*|C16orf62_ENST00000251143.5_Nonsense_Mutation_p.Q673*|C16orf62_ENST00000544275.1_3'UTR|C16orf62_ENST00000543152.1_Nonsense_Mutation_p.Q422*|C16orf62_ENST00000542263.1_Nonsense_Mutation_p.Q695*	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	673						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGTTCTTGTGCAGTTGATTCA	0.328000													24	76					0	0	0.003330	0	0
PARP8	79668	broad.mit.edu	37	5	50118221	50118221	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:50118221G>A	ENST00000281631.5	+	17	2005	c.1847G>A	c.(1846-1848)aGa>aAa	p.R616K	PARP8_ENST00000505554.1_Missense_Mutation_p.R595K|PARP8_ENST00000505697.2_Missense_Mutation_p.R616K|PARP8_ENST00000503750.2_Missense_Mutation_p.R574K|PARP8_ENST00000514067.2_Missense_Mutation_p.R574K|PARP8_ENST00000514342.2_Missense_Mutation_p.R327K|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	616						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ACTTCTATCAGAGAAATGACA	0.308000													18	96					0	0	0.007413	0	0
CACNA1G	8913	broad.mit.edu	37	17	48684289	48684289	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:48684289C>G	ENST00000352832.5	+	23	4754	c.4382C>G	c.(4381-4383)tCc>tGc	p.S1461C	CACNA1G_ENST00000512389.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S1461C|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S1461C|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S1461C|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S1484C|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S1461C|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S1484C|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S1461C|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S1461C|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S1484C|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S1461C|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S1484C	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1484					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTTTTGGCCTCCAAGGATGGT	0.577000													16	41					0	0	0.004007	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93163911	93163911	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:93163911G>C	ENST00000344636.3	+	12	1264	c.1080G>C	c.(1078-1080)aaG>aaC	p.K360N		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	360					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						GCTTTACCAAGAGTCAGGAAA	0.333000													14	37					0	0	0.004007	0	0
B3GALT2	8707	broad.mit.edu	37	1	193150249	193150249	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:193150249C>T	ENST00000367434.4	-	2	1199	c.444G>A	c.(442-444)gaG>gaA	p.E148E	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	148					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						AAGGACTTTTCTCTTGGCATT	0.368000													29	67					0	0	0.007291	0	0
FANCA	2175	broad.mit.edu	37	16	89858379	89858379	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:89858379G>C	ENST00000389301.3	-	13	1211	c.1181C>G	c.(1180-1182)tCt>tGt	p.S394C	FANCA_ENST00000568369.1_Missense_Mutation_p.S394C	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	394					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AACCAGGGCAGACACAAAGGA	0.552000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				15	48					0	0	0.004007	0	0
AGL	178	broad.mit.edu	37	1	100346890	100346890	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:100346890C>T	ENST00000294724.4	+	16	2522	c.2044C>T	c.(2044-2046)Cct>Tct	p.P682S	AGL_ENST00000370165.3_Missense_Mutation_p.P682S|AGL_ENST00000361915.3_Missense_Mutation_p.P682S|AGL_ENST00000361302.3_Missense_Mutation_p.P666S|AGL_ENST00000361522.4_Missense_Mutation_p.P665S|AGL_ENST00000370161.2_Missense_Mutation_p.P666S|AGL_ENST00000370163.3_Missense_Mutation_p.P682S	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	682					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)		TAAGTGGAATCCTGAAGCATT	0.373000													19	58					0	0	0.008871	0	0
CCNT1	904	broad.mit.edu	37	12	49088089	49088089	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:49088089G>A	ENST00000261900.3	-	9	1130	c.908C>T	c.(907-909)tCa>tTa	p.S303L		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	303					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GGTAGAAGTTGACATGCTCAT	0.493000													31	61					0	0	0.008361	0	0
NSUN7	79730	broad.mit.edu	37	4	40752873	40752873	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr4:40752873C>G	ENST00000381782.2	+	2	658	c.163C>G	c.(163-165)Cag>Gag	p.Q55E	NSUN7_ENST00000316607.5_Missense_Mutation_p.Q55E	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						CAACATTTTTCAGGGTATTCG	0.512000													40	94					0	0	0.006230	0	0
OVCH1	341350	broad.mit.edu	37	12	29649538	29649538	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:29649538G>C	ENST00000318184.5	-	2	133	c.134C>G	c.(133-135)tCt>tGt	p.S45C		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	45	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ACTAATTCTAGAGAAGAATCT	0.413000													40	90					0	0	0.004878	0	0
LIN54	132660	broad.mit.edu	37	4	83859644	83859644	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr4:83859644G>A	ENST00000340417.3	-	8	1831	c.1454C>T	c.(1453-1455)tCa>tTa	p.S485L	LIN54_ENST00000510557.1_Missense_Mutation_p.S264L|LIN54_ENST00000506560.1_Missense_Mutation_p.S396L|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000395283.2_Missense_Mutation_p.S396L|LIN54_ENST00000446851.2_Missense_Mutation_p.S264L|LIN54_ENST00000442461.2_Missense_Mutation_p.S264L|LIN54_ENST00000505397.1_Missense_Mutation_p.S485L	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	485					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				TGATACATATGAAGACTGCTG	0.353000													4	55					0	0	0.000602	0	0
NACA	4666	broad.mit.edu	37	12	57106606	57106606	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:57106606C>T	ENST00000454682.1	-	8	6467	c.6186G>A	c.(6184-6186)ctG>ctA	p.L2062L	NACA_ENST00000393891.4_Silent_p.L199L|NACA_ENST00000550952.1_Silent_p.L909L|NACA_ENST00000552540.1_Silent_p.L199L|NACA_ENST00000548563.1_Silent_p.L120L|NACA_ENST00000546392.1_Silent_p.L199L|NACA_ENST00000356769.3_Silent_p.L199L	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	199					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGTTGTTCTTCAGGGCTCGGA	0.423000			T	BCL6	NHL								15	84					0	0	0.004990	0	0
SLC4A9	83697	broad.mit.edu	37	5	139745591	139745591	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:139745591G>A	ENST00000230993.6	+	13	1990	c.1955G>A	c.(1954-1956)cGc>cAc	p.R652H	SLC4A9_ENST00000507527.1_Missense_Mutation_p.R652H|SLC4A9_ENST00000506757.2_Missense_Mutation_p.R628H|SLC4A9_ENST00000506545.1_Intron|SLC4A9_ENST00000432095.2_Missense_Mutation_p.R614H	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	652	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGACCAGCCGCTTCTTCCCC	0.493000													73	198					0	0	0.003610	0	0
MBD3	53615	broad.mit.edu	37	19	1585105	1585105	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:1585105C>T	ENST00000590550.2	-	1	424	c.51G>A	c.(49-51)aaG>aaA	p.K17K	MBD3_ENST00000592012.1_Silent_p.K41K|MBD3_ENST00000156825.1_Silent_p.K73K|MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000434436.3_Silent_p.K73K			O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	73	MBD.				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTTGTTCATCTTGCTCATCA	0.647000													6	25					0	0	0.001984	0	0
ZNRF3	84133	broad.mit.edu	37	22	29445929	29445929	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr22:29445929G>A	ENST00000544604.2	+	8	1935	c.1760G>A	c.(1759-1761)cGc>cAc	p.R587H	ZNRF3_ENST00000332811.4_Missense_Mutation_p.R487H|ZNRF3_ENST00000402174.1_Missense_Mutation_p.R487H|ZNRF3_ENST00000406323.3_Missense_Mutation_p.R487H	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	587						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						TCCACCTTCCGCAGCTCCCTC	0.667000													32	109					0	0	0.012213	0	0
AFM	173	broad.mit.edu	37	4	74361120	74361120	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr4:74361120G>A	ENST00000226355.3	+	9	1255	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	388	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTGCAACACAGAAAACCCTCC	0.363000													15	44					0	0	0.003163	0	0
METTL6	131965	broad.mit.edu	37	3	15467880	15467880	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:15467880G>C	ENST00000443029.1	-	2	379	c.139C>G	c.(139-141)Ctt>Gtt	p.L47V	METTL6_ENST00000450816.2_Missense_Mutation_p.L47V|METTL6_ENST00000383789.5_Missense_Mutation_p.L47V|METTL6_ENST00000383790.3_Missense_Mutation_p.L47V			Q8TCB7	METL6_HUMAN	methyltransferase like 6	47							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						TTGTAAAAAAGATCCCAATTT	0.373000													14	43					0	0	0.001855	0	0
MALAT1	378938	broad.mit.edu	37	11	65272755	65272755	+	RNA	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:65272755G>T	ENST00000534336.1	+	0	7523					NR_002819.2																						CTAAGGTCAAGAGAAGTGTCA	0.483000													9	32					1.12685e-05	1.17121e-05	0.004482	1	0
GAPVD1	26130	broad.mit.edu	37	9	128086134	128086134	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr9:128086134C>T	ENST00000470056.1	+	9	1950	c.1790C>T	c.(1789-1791)tCa>tTa	p.S597L	GAPVD1_ENST00000394083.2_Missense_Mutation_p.S576L|GAPVD1_ENST00000394104.2_Missense_Mutation_p.S597L|GAPVD1_ENST00000495955.1_Missense_Mutation_p.S597L|GAPVD1_ENST00000394105.2_Missense_Mutation_p.S597L|GAPVD1_ENST00000265956.4_Missense_Mutation_p.S597L|GAPVD1_ENST00000312123.9_Missense_Mutation_p.S576L|GAPVD1_ENST00000297933.6_Missense_Mutation_p.S597L			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	597					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GAGTCTGTGTCAGAACTTGGA	0.428000													11	53					0	0	0.010729	0	0
ENAM	10117	broad.mit.edu	37	4	71508617	71508617	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr4:71508617G>A	ENST00000396073.3	+	9	1755	c.1474G>A	c.(1474-1476)Gaa>Aaa	p.E492K	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	492					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TGATCAACATGAAAACTCCTA	0.378000													7	30					0	0	0.004482	0	0
POM121L12	285877	broad.mit.edu	37	7	53103789	53103789	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr7:53103789C>T	ENST00000408890.4	+	1	441	c.425C>T	c.(424-426)gCg>gTg	p.A142V		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	142								p.A142V(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ATCGGGATCGCGCCCCCTGAG	0.721000													13	30					0	0	0.002450	0	0
CYP11B1	1584	broad.mit.edu	37	8	143961152	143961152	+	Silent	SNP	C	C	G	rs147788769		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr8:143961152C>G	ENST00000292427.4	-	1	110	c.78G>C	c.(76-78)acG>acC	p.T26T	CYP11B1_ENST00000377675.3_Silent_p.T26T|CYP11B1_ENST00000517471.1_Silent_p.T26T	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	26					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GGGCGGCTCTCGTGCCCAGTG	0.652000									Familial Hyperaldosteronism type I				20	77					0	0	0.008871	0	0
CAD	790	broad.mit.edu	37	2	27463930	27463930	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:27463930G>A	ENST00000264705.4	+	37	5805	c.5643G>A	c.(5641-5643)ctG>ctA	p.L1881L	CAD_ENST00000403525.1_Silent_p.L1818L	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1881	Linker.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CTGCAGAGCTGATGGGAACCC	0.622000													43	101					0	0	0.010771	0	0
KIAA0226	9711	broad.mit.edu	37	3	197427616	197427616	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:197427616C>G	ENST00000273582.5	-	7	1494	c.949G>C	c.(949-951)Gag>Cag	p.E317Q	KIAA0226_ENST00000449205.1_Missense_Mutation_p.E377Q|KIAA0226_ENST00000296343.5_Missense_Mutation_p.E377Q|KIAA0226_ENST00000389665.5_Missense_Mutation_p.E377Q	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	377	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		AGCTGGCTCTCCCCACCTCCT	0.577000													35	76					0	0	0.002836	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60212054	60212054	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr18:60212054C>G	ENST00000269499.5	+	4	1566	c.1148C>G	c.(1147-1149)tCa>tGa	p.S383*	ZCCHC2_ENST00000586834.1_Nonsense_Mutation_p.S62*	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	383					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TCTGATCTTTCAGTCACAACA	0.308000													2	2					0	0	0.004672	0	0
ETS2	2114	broad.mit.edu	37	21	40191453	40191453	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr21:40191453G>A	ENST00000360214.3	+	9	1298	c.838G>A	c.(838-840)Gag>Aag	p.E280K	ETS2_ENST00000360938.3_Missense_Mutation_p.E280K	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	280					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				CGACTCCCCTGAGAACGGTGC	0.557000													46	34					0	0	0.003610	0	0
C1RL	51279	broad.mit.edu	37	12	7260991	7260991	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:7260991C>T	ENST00000266542.4	-	2	248	c.156G>A	c.(154-156)ctG>ctA	p.L52L	C1RL_ENST00000545280.1_Intron|C1RL_ENST00000545337.1_Silent_p.L52L|C1RL_ENST00000544702.1_Silent_p.L52L|C1RL-AS1_ENST00000435921.2_RNA|C1RL-AS1_ENST00000541775.1_RNA	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	52	CUB.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CGGGGGATGTCAGCTGCTGGG	0.632000													18	55					0	0	0.010504	0	0
AP2M1	1173	broad.mit.edu	37	3	183900581	183900581	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:183900581C>T	ENST00000382456.3	+	10	1406	c.1092C>T	c.(1090-1092)atC>atT	p.I364I	AP2M1_ENST00000439647.1_Silent_p.I364I|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000292807.5_Silent_p.I366I|AP2M1_ENST00000411763.2_Silent_p.I391I|AP2M1_ENST00000461733.1_3'UTR	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	366	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AATCGCAGATCAGCGCAGAGA	0.552000													17	93					0	0	0.004990	0	0
SYT14	255928	broad.mit.edu	37	1	210334211	210334211	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:210334211G>A	ENST00000537238.1	+	9	1769	c.1378G>A	c.(1378-1380)Gat>Aat	p.D460N	SYT14_ENST00000367015.1_Missense_Mutation_p.D460N|SYT14_ENST00000534859.1_Missense_Mutation_p.D524N|SYT14_ENST00000367019.1_Missense_Mutation_p.D517N|SYT14_ENST00000472886.1_Missense_Mutation_p.D498N|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000422431.1_Missense_Mutation_p.D562N|SYT14_ENST00000399639.2_3'UTR	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	498	C2 2.					integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TCAGCTTTCTGATGTGACACT	0.418000													18	76					0	0	0.006122	0	0
MTG2	26164	broad.mit.edu	37	20	60775858	60775858	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr20:60775858G>C	ENST00000370823.3	+	7	964	c.946G>C	c.(946-948)Gag>Cag	p.E316Q	MTG2_ENST00000436421.2_Missense_Mutation_p.E158Q|MTG2_ENST00000536470.1_Missense_Mutation_p.E88Q	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2																		TTCTCAGCCTGAGCCGTGGAC	0.547000													63	215					0	0	0.003610	0	0
GSTA3	2940	broad.mit.edu	37	6	52767169	52767169	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr6:52767169C>T	ENST00000211122.3	-	4	312	c.247G>A	c.(247-249)Ggg>Agg	p.G83R	GSTA3_ENST00000370968.1_Missense_Mutation_p.G33R	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	83	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	ATGTCTTTCCCGTAGAGGTTG	0.448000													50	147					0	0	0.003610	0	0
C17orf62	79415	broad.mit.edu	37	17	80405459	80405459	+	Missense_Mutation	SNP	C	C	T	rs142773924		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:80405459C>T	ENST00000437807.2	-	4	441	c.124G>A	c.(124-126)Gga>Aga	p.G42R	C17orf62_ENST00000306645.5_Missense_Mutation_p.G42R|C17orf62_ENST00000434650.2_Intron|C17orf62_ENST00000578919.1_Missense_Mutation_p.G42R|C17orf62_ENST00000585064.1_Missense_Mutation_p.G42R|C17orf62_ENST00000577732.1_Missense_Mutation_p.G42R|C17orf62_ENST00000577436.1_Intron|C17orf62_ENST00000342572.8_Intron|C17orf62_ENST00000583617.1_Missense_Mutation_p.G42R|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000585080.1_Missense_Mutation_p.G42R|C17orf62_ENST00000583359.1_5'UTR|C17orf62_ENST00000578913.1_Missense_Mutation_p.G42R	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	42						integral to membrane	protein binding			breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCTTTACCTCCGCTGTAGTAG	0.542000													4	14					0	0	0.000602	0	0
GTF2E1	2960	broad.mit.edu	37	3	120499990	120499990	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:120499990G>C	ENST00000283875.5	+	5	1086	c.993G>C	c.(991-993)aaG>aaC	p.K331N		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	331					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		ACGAGAAAAAGACTTCCTCTG	0.547000													9	63					0	0	0.004482	0	0
BCAN	63827	broad.mit.edu	37	1	156621404	156621404	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:156621404C>T	ENST00000329117.4	+	7	1556	c.1220C>T	c.(1219-1221)tCc>tTc	p.S407F	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.S407F	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	407	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)					GCCATCTACTCCATCCCCATC	0.572000													9	90					0	0	0.008291	0	0
C15orf57	90416	broad.mit.edu	37	15	40849428	40849428	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:40849428C>G	ENST00000358005.3	-	3	661	c.388G>C	c.(388-390)Gat>Cat	p.D130H	C15orf57_ENST00000558871.1_Missense_Mutation_p.D130H|C15orf57_ENST00000558750.1_Missense_Mutation_p.D139H|C15orf57_ENST00000416810.2_Missense_Mutation_p.D130H|C15orf57_ENST00000559911.1_Missense_Mutation_p.D130H|RP11-111A22.1_ENST00000561460.1_RNA|C15orf57_ENST00000561011.1_Missense_Mutation_p.D130H|C15orf57_ENST00000560305.1_Missense_Mutation_p.D130H|C15orf57_ENST00000558113.1_Missense_Mutation_p.D130H	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	130										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						TCATCAGAATCAAGTCCATCC	0.438000													12	26					0	0	0.002450	0	0
ARID2	196528	broad.mit.edu	37	12	46231439	46231439	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:46231439G>A	ENST00000334344.6	+	10	1451	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	ARID2_ENST00000422737.1_Missense_Mutation_p.E278K|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.E56K	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	427					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CATGCTCACGGAAATGGGAGA	0.378000			"""N, S, F"""		hepatocellular carcinoma								18	39					0	0	0.006122	0	0
MIR518F	574472	broad.mit.edu	37	19	54203354	54203354	+	RNA	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:54203354G>C	ENST00000384973.1	+	0	86					NR_030194.1																						TACTCTTTGAGAAAAGCAACG	0.378000													13	59					0	0	0.001368	0	0
CDH10	1008	broad.mit.edu	37	5	24511615	24511615	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:24511615G>C	ENST00000264463.4	-	6	1330	c.823C>G	c.(823-825)Cat>Gat	p.H275D		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	275	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H275Y(1)		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)		ACTCGAAGATGAATAGTGTCT	0.418000										HNSCC(23;0.051)			7	28					0	0	0.001984	0	0
MYH7B	57644	broad.mit.edu	37	20	33567491	33567491	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr20:33567491C>T	ENST00000262873.7	+	5	444	c.352C>T	c.(352-354)Cag>Tag	p.Q118*		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	76	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGCCGAGCTGCAGCCCATGAA	0.647000													25	87					0	0	0.006320	0	0
NRAP	4892	broad.mit.edu	37	10	115368262	115368262	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr10:115368262G>A	ENST00000369358.4	-	32	3881	c.3637C>T	c.(3637-3639)Cgg>Tgg	p.R1213W	NRAP_ENST00000359988.3_Missense_Mutation_p.R1205W|NRAP_ENST00000369360.3_Missense_Mutation_p.R1178W|NRAP_ENST00000360478.3_Missense_Mutation_p.R1170W			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1205						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)		GGATGCTGCCGATATTTACTC	0.438000													60	116					0	0	0.003610	0	0
STAB2	55576	broad.mit.edu	37	12	104129353	104129353	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:104129353G>A	ENST00000388887.2	+	52	5749	c.5545G>A	c.(5545-5547)Gac>Aac	p.D1849N		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1849	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGCTGGCAGGGACATCGTGAG	0.507000													3	10					0	0	0.004672	0	0
TP53INP1	94241	broad.mit.edu	37	8	95942725	95942725	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr8:95942725C>T	ENST00000342697.4	-	4	1112	c.705G>A	c.(703-705)ccG>ccA	p.P235P	TP53INP1_ENST00000448464.2_3'UTR|TP53INP1_ENST00000378776.4_Silent_p.P180P|NDUFAF6_ENST00000396113.1_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	235					apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					TGTACTGACGCGGGCAGGGCT	0.438000													53	115					0	0	0.003610	0	0
EPPK1	83481	broad.mit.edu	37	8	144943311	144943311	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr8:144943311C>T	ENST00000525985.1	-	2	4182	c.4111G>A	c.(4111-4113)Ggg>Agg	p.G1371R				P58107	EPIPL_HUMAN	epiplakin 1	1371						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGTGCACCCCGTGGACAGGG	0.637000													8	31					0	0	0.003080	0	0
PLCH2	9651	broad.mit.edu	37	1	2428128	2428128	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:2428128G>A	ENST00000449969.1	+	14	1998	c.1837G>A	c.(1837-1839)Gac>Aac	p.D613N	PLCH2_ENST00000378486.3_Missense_Mutation_p.D640N|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000419816.2_Missense_Mutation_p.D640N|PLCH2_ENST00000378488.3_Missense_Mutation_p.D640N|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	640					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGCCACCCACGACATAGAGAT	0.682000													4	14					0	0	0.000602	0	0
SLC25A18	83733	broad.mit.edu	37	22	18072904	18072904	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr22:18072904G>A	ENST00000327451.5	+	11	1388	c.850G>A	c.(850-852)Gct>Act	p.A284T	SLC25A18_ENST00000399813.1_Missense_Mutation_p.A284T	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	284						integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	CATGAAAGGCGCTGGCTGCCG	0.527000													19	81					0	0	0.006122	0	0
HEXA	3073	broad.mit.edu	37	15	72643480	72643480	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:72643480C>A	ENST00000268097.5	-	6	1169	c.666G>T	c.(664-666)atG>atT	p.M222I	RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000429918.2_Missense_Mutation_p.M49I|HEXA_ENST00000566304.1_Missense_Mutation_p.M233I|HEXA_ENST00000567159.1_Missense_Mutation_p.M222I|HEXA_ENST00000457859.2_Missense_Mutation_p.M30I|RP11-106M3.3_ENST00000570175.1_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	222					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						ATACCTTTCTCATGAGCTCTG	0.468000													10	38					7.03913e-09	7.48321e-09	0.001368	1	0
LAMA5	3911	broad.mit.edu	37	20	60942119	60942119	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr20:60942119G>A	ENST00000252999.3	-	1	249	c.183C>T	c.(181-183)tcC>tcT	p.S61S	LAMA5_ENST00000370677.3_Silent_p.S61S|LAMA5_ENST00000370692.3_Silent_p.S61S	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	61	Laminin N-terminal.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGCAGGTCGCGGAGGCGGCGA	0.791000													2	0					0	0	0.004672	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21556189	21556189	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:21556189C>A	ENST00000298694.4	+	22	4577	c.4450C>A	c.(4450-4452)Caa>Aaa	p.Q1484K	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.Q1436K			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1484					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CCCCAGCCTGCAACCCCCCCA	0.577000													19	79					1.45105e-14	1.57214e-14	0.006122	1	0
TBC1D20	128637	broad.mit.edu	37	20	428599	428599	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr20:428599C>A	ENST00000354200.4	-	2	337	c.190G>T	c.(190-192)Gag>Tag	p.E64*		NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	64	Rab-GAP TBC.				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				CGTCTGATCTCATCAGTCAGG	0.532000													13	47					6.31663e-08	6.67036e-08	0.003163	1	0
PLEC	5339	broad.mit.edu	37	8	144998102	144998102	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr8:144998102C>G	ENST00000322810.4	-	31	6575	c.6406G>C	c.(6406-6408)Gag>Cag	p.E2136Q	PLEC_ENST00000356346.3_Missense_Mutation_p.E1985Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E1999Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E2026Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E1999Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E2003Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E1967Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E2022Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E1977Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2136	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGTGCGGCCTCCTCCTCGGCC	0.746000													3	21					0	0	0.004672	0	0
ZBTB24	9841	broad.mit.edu	37	6	109788881	109788881	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr6:109788881G>A	ENST00000230122.3	-	6	1512	c.1345C>T	c.(1345-1347)Ctt>Ttt	p.L449F		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TGGGTCTGAAGAGAACTCTTT	0.373000													4	23					0	0	0.001168	0	0
SDC4	6385	broad.mit.edu	37	20	43964468	43964468	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr20:43964468G>A	ENST00000372733.3	-	2	192	c.153C>T	c.(151-153)ccC>ccT	p.P51P	SDC4_ENST00000537976.1_Intron	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	51						extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity	p.P51P(1)	SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				ATTCCTGCCCGGGCCCCACTA	0.582000			T	ROS1	NSCLC								31	47					0	0	0.012213	0	0
TTN	7273	broad.mit.edu	37	2	179398942	179398942	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:179398942C>T	ENST00000589042.1	-	358	102624	c.102400G>A	c.(102400-102402)Gaa>Aaa	p.E34134K	TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25261K|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25069K|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25194K|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E32493K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31566K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32493	Ig-like 151.|Ser-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)			GGGCCAATTTCAATGGATGCC	0.443000													30	86					0	0	0.008361	0	0
NACA	4666	broad.mit.edu	37	12	57106659	57106659	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:57106659C>G	ENST00000454682.1	-	8	6414	c.6133G>C	c.(6133-6135)Gaa>Caa	p.E2045Q	NACA_ENST00000393891.4_Missense_Mutation_p.E182Q|NACA_ENST00000550952.1_Missense_Mutation_p.E892Q|NACA_ENST00000552540.1_Missense_Mutation_p.E182Q|NACA_ENST00000548563.1_Missense_Mutation_p.E103Q|NACA_ENST00000546392.1_Missense_Mutation_p.E182Q|NACA_ENST00000356769.3_Missense_Mutation_p.E182Q	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	182					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						ATGACCAATTCAATGTCCTTA	0.403000			T	BCL6	NHL								10	91					0	0	0.010729	0	0
RALGDS	5900	broad.mit.edu	37	9	135982483	135982483	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr9:135982483C>T	ENST00000393160.3	-	7	1590	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Missense_Mutation_p.E539K|RALGDS_ENST00000372047.3_Missense_Mutation_p.E456K|RALGDS_ENST00000372050.3_Missense_Mutation_p.E468K|RALGDS_ENST00000393157.3_Missense_Mutation_p.E467K|RALGDS_ENST00000372062.3_Missense_Mutation_p.E439K	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	468	Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CTGGCCACCTCGATCCAGTGC	0.622000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								12	57					0	0	0.010729	0	0
MYRF	745	broad.mit.edu	37	11	61548770	61548770	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:61548770C>T	ENST00000278836.5	+	21	2829	c.2733C>T	c.(2731-2733)agC>agT	p.S911S	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Silent_p.S876S|MYRF_ENST00000389602.4_Silent_p.S302S	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		atgttctcagcccaagtccca	0.607000													18	47					0	0	0.004990	0	0
MALAT1	378938	broad.mit.edu	37	11	65272832	65272832	+	RNA	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:65272832G>A	ENST00000534336.1	+	0	7600					NR_002819.2																						TGAAGCATCCGAAGGAATGCT	0.423000													5	30					0	0	0.000602	0	0
ZNF474	133923	broad.mit.edu	37	5	121488078	121488078	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:121488078G>C	ENST00000296600.4	+	2	776	c.393G>C	c.(391-393)ttG>ttC	p.L131F	CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	131						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		CCAAGCATTTGAGGAGGCCAG	0.517000													31	78					0	0	0.009535	0	0
CLASP1	23332	broad.mit.edu	37	2	122165228	122165228	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:122165228C>T	ENST00000263710.4	-	25	2877	c.2488G>A	c.(2488-2490)Gat>Aat	p.D830N	CLASP1_ENST00000541377.1_Missense_Mutation_p.D808N|CLASP1_ENST00000541859.1_Missense_Mutation_p.D563N|CLASP1_ENST00000455322.2_Missense_Mutation_p.D802N|CLASP1_ENST00000397587.3_Missense_Mutation_p.D810N|CLASP1_ENST00000409078.3_Missense_Mutation_p.D802N|CLASP1_ENST00000545861.1_Missense_Mutation_p.D577N	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	830					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTTGAGGCATCACTGTTGGCA	0.502000													38	115					0	0	0.004289	0	0
YTHDC2	64848	broad.mit.edu	37	5	112871369	112871369	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:112871369G>A	ENST00000161863.4	+	7	1189	c.976G>A	c.(976-978)Gat>Aat	p.D326N	YTHDC2_ENST00000515883.1_Missense_Mutation_p.D326N	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	326	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TCGATTTAGTGATTTTTTACT	0.303000													13	48					0	0	0.002450	0	0
RUSC1	23623	broad.mit.edu	37	1	155295461	155295461	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:155295461C>T	ENST00000368352.5	+	6	1963	c.1812C>T	c.(1810-1812)ctC>ctT	p.L604L	RUSC1_ENST00000368349.4_Silent_p.L135L|RUSC1_ENST00000368354.3_Silent_p.L604L|RUSC1_ENST00000292254.4_Silent_p.L135L|RUSC1_ENST00000368347.4_Silent_p.L194L|RUSC1_ENST00000462780.1_3'UTR	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	604	RUN.					cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TGGGCCTCCTCAAGTGAGTTG	0.612000													9	15					0	0	0.004482	0	0
CPD	1362	broad.mit.edu	37	17	28789469	28789469	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:28789469C>G	ENST00000225719.4	+	20	3974	c.3898C>G	c.(3898-3900)Ctt>Gtt	p.L1300V	CPD_ENST00000543464.2_Missense_Mutation_p.L1053V	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1300					proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GCCAAGGGAGCTTGTGGTAAC	0.373000													20	49					0	0	0.010504	0	0
CNR1	1268	broad.mit.edu	37	6	88854153	88854153	+	Missense_Mutation	SNP	C	C	A	rs140051374		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr6:88854153C>A	ENST00000537554.1	-	2	4403	c.841G>T	c.(841-843)Ggg>Tgg	p.G281W	CNR1_ENST00000549890.1_Missense_Mutation_p.G281W|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Missense_Mutation_p.G281W|CNR1_ENST00000369499.2_Missense_Mutation_p.G281W|CNR1_ENST00000468898.1_Missense_Mutation_p.G248W|CNR1_ENST00000535130.1_Missense_Mutation_p.G281W|CNR1_ENST00000369501.2_Missense_Mutation_p.G281W|CNR1_ENST00000549716.1_Missense_Mutation_p.G220W	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	281					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)	CTGGTGACCCCGATCCAGAAC	0.532000													4	74					0.00909568	0.00928322	0.009096	1	0
ARAP1	116985	broad.mit.edu	37	11	72409008	72409008	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:72409008G>A	ENST00000359373.5	-	19	3536	c.2685C>T	c.(2683-2685)ttC>ttT	p.F895F	ARAP1_ENST00000334211.8_Silent_p.F650F|ARAP1_ENST00000393609.3_Silent_p.F895F|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000455638.2_Silent_p.F895F|ARAP1_ENST00000429686.1_Silent_p.F589F|ARAP1_ENST00000426523.1_Silent_p.F650F|ARAP1_ENST00000393605.3_Silent_p.F655F			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	895					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						GCCCCTCCGGGAAGACAGCAC	0.657000													3	21					0	0	0.000602	0	0
STARD13	90627	broad.mit.edu	37	13	33703293	33703293	+	Silent	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr13:33703293G>T	ENST00000336934.5	-	5	1637	c.1521C>A	c.(1519-1521)gtC>gtA	p.V507V	STARD13_ENST00000399365.3_Silent_p.V389V|STARD13_ENST00000255486.4_Silent_p.V499V	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	507					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GTTCAGGCAAGACATCTTTGG	0.448000													23	90					6.21321e-17	6.8156e-17	0.002780	1	0
DNAH11	8701	broad.mit.edu	37	7	21621571	21621571	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr7:21621571G>C	ENST00000328843.6	+	9	1673	c.1642G>C	c.(1642-1644)Gac>Cac	p.D548H	DNAH11_ENST00000409508.3_Missense_Mutation_p.D548H			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	548	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCTGGAATTTGACAGAAGGCT	0.333000									Kartagener syndrome				3	92					0	0	0.004672	0	0
BSN	8927	broad.mit.edu	37	3	49702266	49702266	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:49702266C>T	ENST00000296452.4	+	10	11889	c.11775C>T	c.(11773-11775)ttC>ttT	p.F3925F		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3925				F -> L (in Ref. 1; AAC83555).	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)		TTTCCTCATTCTGGTGACCAT	0.557000													30	69					0	0	0.009535	0	0
PLEC	5339	broad.mit.edu	37	8	145007122	145007122	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr8:145007122G>A	ENST00000322810.4	-	14	2156	c.1987C>T	c.(1987-1989)Cag>Tag	p.Q663*	PLEC_ENST00000356346.3_Nonsense_Mutation_p.Q512*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.Q526*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.Q553*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.Q526*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.Q530*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.Q494*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.Q549*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.Q504*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	663	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCAGGTCCTGCAGGTAGCGC	0.697000													6	29					0	0	0.003080	0	0
FXR1	8087	broad.mit.edu	37	3	180685868	180685868	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:180685868G>A	ENST00000357559.4	+	14	1612	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	FXR1_ENST00000491062.1_Missense_Mutation_p.E361K|FXR1_ENST00000480918.1_Missense_Mutation_p.E397K|FXR1_ENST00000468861.1_Missense_Mutation_p.E325K|FXR1_ENST00000305586.7_Missense_Mutation_p.E325K|FXR1_ENST00000445140.2_Missense_Mutation_p.E410K	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	410					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)			TAACCCCTCTGAAACGGAATC	0.428000													24	161					0	0	0.003330	0	0
UPB1	51733	broad.mit.edu	37	22	24911253	24911253	+	Missense_Mutation	SNP	C	C	T	rs144135211		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr22:24911253C>T	ENST00000413389.2	+	6	2095	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	UPB1_ENST00000326010.5_Missense_Mutation_p.R236W			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	236	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					TTGCTACGGGCGGCACCACCC	0.562000													26	64					0	0	0.004656	0	0
DLGAP4	22839	broad.mit.edu	37	20	35155390	35155390	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr20:35155390G>C	ENST00000373913.3	+	13	3406	c.2926G>C	c.(2926-2928)Gac>Cac	p.D976H	RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000401952.2_Missense_Mutation_p.D976H|DLGAP4_ENST00000373907.2_Missense_Mutation_p.D979H|RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000340491.4_Missense_Mutation_p.D440H|DLGAP4_ENST00000339266.5_Missense_Mutation_p.D979H|DLGAP4_ENST00000475894.1_3'UTR			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	979					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CGAGAGCGCAGACAGCATCGA	0.557000													10	50					0	0	0.008291	0	0
UPRT	139596	broad.mit.edu	37	X	74519710	74519710	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chrX:74519710C>A	ENST00000373379.1	+	5	868	c.703C>A	c.(703-705)Ctt>Att	p.L235I	UPRT_ENST00000530743.1_Missense_Mutation_p.L99I|UPRT_ENST00000373383.4_Missense_Mutation_p.L235I			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	235					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						GAGAAAAGTCCTTCTGATGTA	0.413000													37	23					5.04308e-16	5.50913e-16	0.006230	1	0
STAMBP	10617	broad.mit.edu	37	2	74074516	74074516	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:74074516G>C	ENST00000394070.2	+	5	881	c.378G>C	c.(376-378)aaG>aaC	p.K126N	STAMBP_ENST00000409707.1_Missense_Mutation_p.K126N|STAMBP_ENST00000339566.3_Missense_Mutation_p.K126N|STAMBP_ENST00000394073.1_Missense_Mutation_p.K126N|STAMBP_ENST00000536064.1_Missense_Mutation_p.K126N	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	126	Glu-rich.|Interaction with CHMP3.				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						CTTTGTAGAAGAAGGAAGCAG	0.448000													8	29					0	0	0.004482	0	0
OR4D9	390199	broad.mit.edu	37	11	59283051	59283051	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:59283051G>C	ENST00000329328.3	+	1	666	c.666G>C	c.(664-666)ttG>ttC	p.L222F		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CGGTCATCTTGATGATGCTGA	0.498000													27	156					0	0	0.006320	0	0
TWIST1	7291	broad.mit.edu	37	7	19156446	19156446	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr7:19156446C>A	ENST00000242261.5	-	1	849	c.499G>T	c.(499-501)Gag>Tag	p.E167*		NM_000474.3	NP_000465.1	Q15672	TWST1_HUMAN	twist family bHLH transcription factor 1	167	Sufficient for transactivation activity (By similarity).				aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			lung(2)|upper_aerodigestive_tract(1)	3						GAGTCCAGCTCGTCGCTCTGG	0.617000													9	18					1.58986e-06	1.66337e-06	0.008291	1	0
FBXL13	222235	broad.mit.edu	37	7	102553560	102553560	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr7:102553560G>C	ENST00000393772.2	-	11	1407	c.981C>G	c.(979-981)atC>atG	p.I327M	LRRC17_ENST00000339431.4_5'UTR|FBXL13_ENST00000456695.1_Missense_Mutation_p.I327M|LRRC17_ENST00000249377.4_5'UTR|FBXL13_ENST00000455112.2_Missense_Mutation_p.I327M|FBXL13_ENST00000436908.1_Missense_Mutation_p.I327M|FBXL13_ENST00000379305.3_Missense_Mutation_p.I327M|FBXL13_ENST00000379306.3_Missense_Mutation_p.I327M|FBXL13_ENST00000379308.3_Missense_Mutation_p.I327M|FBXL13_ENST00000313221.4_Missense_Mutation_p.I327M			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	327										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GGTCCAGATAGATGAGCTTGT	0.488000													5	22					0	0	0.000602	0	0
TRIP11	9321	broad.mit.edu	37	14	92471470	92471470	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:92471470C>T	ENST00000267622.4	-	11	3223	c.2850G>A	c.(2848-2850)atG>atA	p.M950I		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	950					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GTGTGGCGTTCATTTGCTCAT	0.368000			T	PDGFRB	AML								15	113					0	0	0.007413	0	0
BACH2	60468	broad.mit.edu	37	6	90648025	90648025	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr6:90648025C>A	ENST00000257749.4	-	8	2588	c.1881G>T	c.(1879-1881)agG>agT	p.R627S	BACH2_ENST00000537989.1_Missense_Mutation_p.R627S|BACH2_ENST00000343122.3_Missense_Mutation_p.R627S	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	627						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GGAAATCGTTCCTTGGAAGAT	0.423000													18	43					3.51602e-12	3.79902e-12	0.008871	1	0
LIFR	3977	broad.mit.edu	37	5	38481936	38481936	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:38481936C>G	ENST00000263409.4	-	20	3217	c.3055G>C	c.(3055-3057)Gaa>Caa	p.E1019Q	LIFR_ENST00000453190.2_Missense_Mutation_p.E1019Q	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	1019					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AAGTCCTCTTCTGCAGCTATA	0.443000			T	PLAG1	salivary adenoma								20	99					0	0	0.008871	0	0
C19orf57	79173	broad.mit.edu	37	19	14000824	14000824	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:14000824G>C	ENST00000454313.1	-	6	903	c.845C>G	c.(844-846)tCa>tGa	p.S282*	C19orf57_ENST00000586783.1_Nonsense_Mutation_p.S282*|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Nonsense_Mutation_p.S282*			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	282					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)			GGTAGGAGCTGATGCTGGGGT	0.711000													6	42					0	0	0.001168	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145771162	145771162	+	Missense_Mutation	SNP	C	C	G	rs149131924		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr8:145771162C>G	ENST00000276826.5	-	5	2193	c.1992G>C	c.(1990-1992)gaG>gaC	p.E664D	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E664D|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E664D			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	664					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCCGGCTGCTCTCGAACTGGG	0.677000													6	20					0	0	0.001168	0	0
FILIP1L	11259	broad.mit.edu	37	3	99649833	99649833	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:99649833G>A	ENST00000331335.5	-	2	502	c.32C>T	c.(31-33)tCa>tTa	p.S11L	FILIP1L_ENST00000354552.3_Missense_Mutation_p.S11L|CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000398326.2_Missense_Mutation_p.S11L	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	11						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CTTTTGGGCTGAGCCCTCGGT	0.433000													9	44					0	0	0.010729	0	0
PRPF40B	25766	broad.mit.edu	37	12	50035744	50035744	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:50035744C>T	ENST00000261897.1	+	18	2267	c.1716C>T	c.(1714-1716)gtC>gtT	p.V572V	FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Silent_p.V607V|PRPF40B_ENST00000380281.1_Silent_p.V585V			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	585					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						TCGCCCACGTCATAAGCTTTG	0.597000													31	78					0	0	0.009535	0	0
WDHD1	11169	broad.mit.edu	37	14	55474026	55474026	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:55474026C>T	ENST00000360586.3	-	7	637	c.572G>A	c.(571-573)aGa>aAa	p.R191K	WDHD1_ENST00000421192.1_Missense_Mutation_p.R68K|WDHD1_ENST00000420358.2_Missense_Mutation_p.R68K	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	191						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CCAAGCAAGTCTGCAGATTGA	0.318000													6	26					0	0	0.003080	0	0
DCHS2	54798	broad.mit.edu	37	4	155278412	155278412	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr4:155278412C>G	ENST00000357232.3	-	6	758	c.759G>C	c.(757-759)atG>atC	p.M253I	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	253	Cadherin 2.				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)		ctaaactgttcattacttcct	0.443000													30	102					0	0	0.007291	0	0
TAF6	6878	broad.mit.edu	37	7	99710524	99710524	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr7:99710524C>T	ENST00000344095.4	-	6	996	c.471G>A	c.(469-471)caG>caA	p.Q157Q	TAF6_ENST00000437822.2_Silent_p.Q194Q|TAF6_ENST00000418432.2_Silent_p.Q81Q|TAF6_ENST00000452041.1_Silent_p.Q157Q|TAF6_ENST00000472509.1_Silent_p.Q214Q|TAF6_ENST00000453269.2_Silent_p.Q157Q	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	157					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Q157Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTCAGCCTTCTGTTGCTCTT	0.602000													77	187					0	0	0.003610	0	0
PLG	5340	broad.mit.edu	37	6	161134112	161134112	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr6:161134112G>C	ENST00000308192.9	+	5	565	c.502G>C	c.(502-504)Gat>Cat	p.D168H	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	168	Kringle 1.				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)	CTATACTACTGATCCAGAAAA	0.478000													24	143					0	0	0.005443	0	0
MCF2L2	23101	broad.mit.edu	37	3	182897459	182897459	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:182897459C>G	ENST00000328913.3	-	29	3424	c.3127G>C	c.(3127-3129)Gac>Cac	p.D1043H	MCF2L2_ENST00000473233.1_Missense_Mutation_p.D1043H	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	1043					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGACTGTCGTCCGACTGGAAA	0.587000													22	225					0	0	0.002780	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39716595	39716595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:39716595C>T	ENST00000553728.1	+	4	1030	c.817C>T	c.(817-819)Caa>Taa	p.Q273*	MIA2_ENST00000280082.3_Nonsense_Mutation_p.Q273*|MIA2_ENST00000556784.1_Nonsense_Mutation_p.Q272*																							TGGTGAGCCTCAAACAGAACA	0.393000													9	36					0	0	0.004482	0	0
GTSE1	51512	broad.mit.edu	37	22	46704811	46704811	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr22:46704811G>A	ENST00000454366.1	+	4	945	c.733G>A	c.(733-735)Gga>Aga	p.G245R		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	226					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CTCTGTTAGAGGAAGAAGCAT	0.612000													20	71					0	0	0.010504	0	0
CELF6	60677	broad.mit.edu	37	15	72582528	72582528	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:72582528G>A	ENST00000287202.5	-	4	717	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	CELF6_ENST00000543764.2_Nonsense_Mutation_p.Q40*|CELF6_ENST00000567083.1_Nonsense_Mutation_p.Q155*|CELF6_ENST00000395258.2_Nonsense_Mutation_p.Q42*|CELF6_ENST00000539635.1_Nonsense_Mutation_p.Q16*|RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000569311.1_5'UTR	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	155	RRM 2.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CCAAAGGGCTGGAACAGGCGT	0.617000													12	27					0	0	0.001368	0	0
LGALS12	85329	broad.mit.edu	37	11	63283183	63283183	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:63283183G>A	ENST00000415491.2	+	7	1293	c.679G>A	c.(679-681)Gag>Aag	p.E227K	LGALS12_ENST00000425950.2_Missense_Mutation_p.E218K|LGALS12_ENST00000340246.5_Missense_Mutation_p.E289K|LGALS12_ENST00000394618.3_Missense_Mutation_p.E288K|LGALS12_ENST00000255684.5_Missense_Mutation_p.E279K	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	288	Galectin 2.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GAGATTCTTTGAGGTAGGTCA	0.557000													11	37					0	0	0.010729	0	0
NSD1	64324	broad.mit.edu	37	5	176562391	176562391	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:176562391C>G	ENST00000439151.2	+	2	332	c.287C>G	c.(286-288)tCc>tGc	p.S96C	NSD1_ENST00000347982.4_Intron|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000511258.1_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.S96C	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	96					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)		GGATCAGAATCCTTTCAAGAC	0.438000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			12	47					0	0	0.010729	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48143273	48143273	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:48143273G>A	ENST00000405493.2	-	10	1024	c.815C>T	c.(814-816)gCt>gTt	p.A272V	RAPGEF3_ENST00000549151.1_Missense_Mutation_p.A272V|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.A272V|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.A314V|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.A314V|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.A272V|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.A314V	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	272					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		ATTCACCAGAGCCAGCTGTCC	0.612000													9	62					0	0	0.006214	0	0
COPB1	1315	broad.mit.edu	37	11	14486569	14486569	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:14486569C>T	ENST00000249923.3	-	18	2598	c.2298G>A	c.(2296-2298)ctG>ctA	p.L766L	COPB1_ENST00000439561.2_Silent_p.L766L	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	766					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						CCACAAGTTTCAGATCCCCTG	0.393000													10	18					0	0	0.006214	0	0
RPS27A	6233	broad.mit.edu	37	2	55460509	55460509	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:55460509C>G	ENST00000272317.6	+	3	383	c.59C>G	c.(58-60)tCg>tGg	p.S20W	RPS27A_ENST00000404735.1_Missense_Mutation_p.S20W|RPS27A_ENST00000402285.3_Missense_Mutation_p.S20W	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	20	Ubiquitin-like.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome			cervix(1)|ovary(1)|urinary_tract(1)	3						GTTGAACCCTCGGATACGATA	0.408000													4	30					0	0	0.000602	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110023720	110023720	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:110023720G>C	ENST00000453089.2	+	2	1638	c.757G>C	c.(757-759)Gac>Cac	p.D253H	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.D285H|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.D284H			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	284							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		AGGCCACAAAGACATTACAGT	0.428000													3	7					0	0	0.004672	0	0
FKBP11	51303	broad.mit.edu	37	12	49315828	49315828	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:49315828C>G	ENST00000550765.1	-	6	943	c.545G>C	c.(544-546)aGa>aCa	p.R182T	AC073610.5_ENST00000537495.1_3'UTR|FKBP11_ENST00000444214.2_Missense_Mutation_p.R80T|ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Intron	NM_016594.2	NP_057678.1	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11, 19 kDa	182					protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(3)|lung(1)	5						GACTTTGGGTCTATTGGCCTT	0.408000													7	104					0	0	0.001984	0	0
SUPT16H	11198	broad.mit.edu	37	14	21827748	21827748	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:21827748C>G	ENST00000216297.2	-	19	2534	c.2196G>C	c.(2194-2196)aaG>aaC	p.K732N		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	732					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TGTGCCGCTTCTTCCCAAACA	0.463000													18	49					0	0	0.007413	0	0
BCKDK	10295	broad.mit.edu	37	16	31121725	31121725	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:31121725G>A	ENST00000394951.1	+	8	1170	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	BCKDK_ENST00000219794.6_Missense_Mutation_p.E183K|BCKDK_ENST00000394950.3_Missense_Mutation_p.E183K|BCKDK_ENST00000287507.3_Missense_Mutation_p.E183K			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	183	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						TTTACAGGATGAAAAGCTCGT	0.592000													20	59					0	0	0.007413	0	0
TUBA8	51807	broad.mit.edu	37	22	18604368	18604368	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr22:18604368G>C	ENST00000330423.3	+	2	199	c.126G>C	c.(124-126)aaG>aaC	p.K42N	TUBA8_ENST00000316027.6_5'UTR	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	42					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						AAGCTAGCAAGATCAACGATG	0.552000													12	53					0	0	0.010729	0	0
PAPSS1	9061	broad.mit.edu	37	4	108578142	108578142	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr4:108578142C>T	ENST00000265174.4	-	7	1077	c.805G>A	c.(805-807)Gtt>Att	p.V269I	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	269					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TCTGCCAAAACCTGCACCCAC	0.393000													11	74					0	0	0.008291	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57069957	57069957	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:57069957G>A	ENST00000532437.1	-	6	4970	c.4659C>T	c.(4657-4659)ccC>ccT	p.P1553P	TNKS1BP1_ENST00000358252.3_Silent_p.P1553P			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1553	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGTCCTGACTGGGGGATCTGG	0.637000													5	20					0	0	0.000602	0	0
KDM6B	23135	broad.mit.edu	37	17	7752328	7752328	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:7752328C>T	ENST00000254846.5	+	11	3111	c.2722C>T	c.(2722-2724)Cgc>Tgc	p.R908C	KDM6B_ENST00000448097.2_Missense_Mutation_p.R908C	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	908					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GCCCCCTGCTCGCTCTGAGTC	0.711000													6	11					0	0	0.001168	0	0
PLEC	5339	broad.mit.edu	37	8	144991749	144991749	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr8:144991749C>T	ENST00000322810.4	-	32	12820	c.12651G>A	c.(12649-12651)ctG>ctA	p.L4217L	PLEC_ENST00000356346.3_Silent_p.L4066L|PLEC_ENST00000354589.3_Silent_p.L4080L|PLEC_ENST00000436759.2_Silent_p.L4107L|PLEC_ENST00000345136.3_Silent_p.L4080L|PLEC_ENST00000357649.2_Silent_p.L4084L|PLEC_ENST00000398774.2_Silent_p.L4048L|PLEC_ENST00000527096.1_Silent_p.L4103L|PLEC_ENST00000354958.2_Silent_p.L4058L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4217	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGGGGTCGGTCAGGATCTCGT	0.617000													12	45					0	0	0.002450	0	0
SAAL1	113174	broad.mit.edu	37	11	18105261	18105261	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:18105261C>T	ENST00000524803.1	-	10	1109	c.1060G>A	c.(1060-1062)Gac>Aac	p.D354N	SAAL1_ENST00000529318.1_Missense_Mutation_p.D356N|SAAL1_ENST00000300013.4_Missense_Mutation_p.D353N			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	354					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						ATGAGGCTGTCAATTAGAGGA	0.363000													4	30					0	0	0.009096	0	0
AHDC1	27245	broad.mit.edu	37	1	27876393	27876393	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:27876393C>T	ENST00000374011.2	-	6	3202	c.2234G>A	c.(2233-2235)cGg>cAg	p.R745Q	AHDC1_ENST00000247087.5_Missense_Mutation_p.R745Q|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	745	Gly-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCCATTCTTCCGGGACCGTCT	0.677000													10	43					0	0	0.006214	0	0
GPR1	2825	broad.mit.edu	37	2	207041250	207041250	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:207041250G>C	ENST00000407325.2	-	3	1084	c.722C>G	c.(721-723)tCc>tGc	p.S241C	GPR1_ENST00000437420.1_Missense_Mutation_p.S241C	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	241						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)		ATGCCTACTGGAGATCAGGAT	0.443000													7	38					0	0	0.001984	0	0
YTHDC2	64848	broad.mit.edu	37	5	112868689	112868689	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:112868689G>C	ENST00000161863.4	+	5	1002	c.789G>C	c.(787-789)gaG>gaC	p.E263D	YTHDC2_ENST00000515883.1_Missense_Mutation_p.E263D	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	263	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TTGCCGCAGAGAGACGGGAAA	0.393000													19	56					0	0	0.007413	0	0
RTTN	25914	broad.mit.edu	37	18	67801735	67801735	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr18:67801735G>A	ENST00000255674.6	-	23	3214	c.2928C>T	c.(2926-2928)ttC>ttT	p.F976F	RTTN_ENST00000437017.1_Silent_p.F976F|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	976							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CAGGCAAACTGAAGACCGATG	0.323000													12	28					0	0	0.001368	0	0
SMG1	23049	broad.mit.edu	37	16	18865140	18865140	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:18865140G>C	ENST00000446231.2	-	31	4945	c.4533C>G	c.(4531-4533)ttC>ttG	p.F1511L	SMG1_ENST00000389467.3_Missense_Mutation_p.F1511L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1511	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CAGACTTGCAGAAAGATATGG	0.403000													11	24					0	0	0.001368	0	0
ATP13A3	79572	broad.mit.edu	37	3	194152469	194152469	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:194152469G>A	ENST00000439040.1	-	22	3189	c.2398C>T	c.(2398-2400)Cat>Tat	p.H800Y	ATP13A3_ENST00000256031.4_Missense_Mutation_p.H800Y			Q9H7F0	AT133_HUMAN	ATPase type 13A3	800					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GCTGATGGATGACTGCACTGC	0.388000													10	45					0	0	0.006214	0	0
PGAP3	93210	broad.mit.edu	37	17	37842184	37842184	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:37842184G>A	ENST00000300658.4	-	2	362	c.270C>T	c.(268-270)ttC>ttT	p.F90F	PGAP3_ENST00000579146.1_Silent_p.F90F|PGAP3_ENST00000378011.4_Silent_p.F90F|PGAP3_ENST00000429199.2_Silent_p.F90F	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	90					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						CCTTGCCATGGAACTGAGGCA	0.537000													6	32					0	0	0.003080	0	0
WNK4	65266	broad.mit.edu	37	17	40936541	40936541	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:40936541G>C	ENST00000246914.5	+	4	1135	c.1114G>C	c.(1114-1116)Gag>Cag	p.E372Q		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	372	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)		GGCCACCTCTGAGTACCCGTA	0.597000													6	36					0	0	0.001984	0	0
TRIP11	9321	broad.mit.edu	37	14	92469778	92469778	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:92469778C>T	ENST00000267622.4	-	11	4915	c.4542G>A	c.(4540-4542)ttG>ttA	p.L1514L		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1514					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTTCTCTTTCAATAGCTGTT	0.378000			T	PDGFRB	AML								6	52					0	0	0.001984	0	0
DHX9	1660	broad.mit.edu	37	1	182853912	182853912	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:182853912C>T	ENST00000367549.3	+	27	3535	c.3425C>T	c.(3424-3426)tCa>tTa	p.S1142L	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1142					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TCTAGACCCTCAGCTGCTGGT	0.448000													29	63					0	0	0.010818	0	0
CAPG	822	broad.mit.edu	37	2	85628369	85628369	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:85628369C>A	ENST00000263867.4	-	5	684	c.435G>T	c.(433-435)aaG>aaT	p.K145N	CAPG_ENST00000409670.1_Missense_Mutation_p.K145N|CAPG_ENST00000409724.1_Missense_Mutation_p.K145N|CAPG_ENST00000409921.1_Missense_Mutation_p.K145N|CAPG_ENST00000483659.1_5'UTR	NM_001256140.1|NM_001747.3	NP_001243069.1|NP_001738.2	P40121	CAPG_HUMAN	capping protein (actin filament), gelsolin-like	145					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						GGATGTTCTTCTTCCCCTTCA	0.602000													34	95					2.75727e-19	3.02879e-19	0.004878	1	0
OSGEPL1	64172	broad.mit.edu	37	2	190626240	190626240	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:190626240C>G	ENST00000519810.1	-	3	469	c.127G>C	c.(127-129)Gaa>Caa	p.E43Q	OSGEPL1_ENST00000522700.1_Missense_Mutation_p.E43Q|OSGEPL1_ENST00000264151.5_Missense_Mutation_p.E43Q			Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	43					proteolysis|tRNA processing		metalloendopeptidase activity			large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			CAACTAGTTTCAATTCCCAAT	0.313000													10	78					0	0	0.008291	0	0
KLB	152831	broad.mit.edu	37	4	39448239	39448239	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr4:39448239G>A	ENST00000257408.4	+	4	1990	c.1893G>A	c.(1891-1893)ctG>ctA	p.L631L		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	631	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GTGAGGGGCTGAAGCTTGGCA	0.627000													27	54					0	0	0.004656	0	0
SLC22A4	6583	broad.mit.edu	37	5	131671648	131671648	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:131671648G>T	ENST00000200652.3	+	8	1573	c.1399G>T	c.(1399-1401)Gcc>Tcc	p.A467S	AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	467					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CACATCCACGGCCTCCAGAGT	0.483000													15	134					1.99824e-07	2.10453e-07	0.004990	1	0
NPC1L1	29881	broad.mit.edu	37	7	44578910	44578910	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr7:44578910C>T	ENST00000289547.4	-	2	1141	c.1086G>A	c.(1084-1086)ccG>ccA	p.P362P	NPC1L1_ENST00000381160.3_Silent_p.P362P|NPC1L1_ENST00000423141.1_Silent_p.P362P|NPC1L1_ENST00000546276.1_Silent_p.P362P	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	362					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGGCCACCACCGGGATGACAG	0.622000													34	101					0	0	0.002836	0	0
MAN2A2	4122	broad.mit.edu	37	15	91448544	91448544	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:91448544G>T	ENST00000360468.3	+	2	214	c.196G>T	c.(196-198)Gag>Tag	p.E66*	MAN2A2_ENST00000559717.1_Nonsense_Mutation_p.E66*	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	66					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGAGAACCATGAGATTATCAG	0.547000													25	83					1.55469e-16	1.70307e-16	0.003330	1	0
NACA	4666	broad.mit.edu	37	12	57112180	57112180	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:57112180C>T	ENST00000454682.1	-	3	3415	c.3134G>A	c.(3133-3135)gGa>gAa	p.G1045E	NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGCTGGACTTCCTTTGGGGGA	0.632000			T	BCL6	NHL								31	40					0	0	0.012213	0	0
ZNF70	7621	broad.mit.edu	37	22	24086776	24086776	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr22:24086776G>C	ENST00000341976.3	-	2	1012	c.552C>G	c.(550-552)ctC>ctG	p.L184L		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	184						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TCTGGTGCCTGAGCAGGTGGG	0.622000													13	48					0	0	0.001368	0	0
CCL2	6347	broad.mit.edu	37	17	32583786	32583786	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:32583786G>C	ENST00000225831.4	+	3	305	c.240G>C	c.(238-240)caG>caC	p.Q80H	CCL2_ENST00000580907.1_3'UTR	NM_002982.3	NP_002973.1	P13500	CCL2_HUMAN	chemokine (C-C motif) ligand 2	80					angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity			kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)	ACCCCAAGCAGAAGTGGGTTC	0.488000													20	38					0	0	0.008871	0	0
AHSG	197	broad.mit.edu	37	3	186338532	186338532	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:186338532G>C	ENST00000411641.2	+	7	1136	c.917G>C	c.(916-918)gGa>gCa	p.G306A	AHSG_ENST00000273784.5_Missense_Mutation_p.G307A			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	306					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GCTCCTCCAGGACACCAGTTG	0.632000													105	167					0	0	0.003610	0	0
SLC41A1	254428	broad.mit.edu	37	1	205779420	205779420	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:205779420C>G	ENST00000367137.3	-	2	1164	c.150G>C	c.(148-150)gtG>gtC	p.V50V		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	50						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GAGACTCAATCACCACCTCTA	0.642000											OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	76					0	0	0.004482	0	0
FOXD4	2298	broad.mit.edu	37	9	117879	117879	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr9:117879C>G	ENST00000382500.2	-	1	538	c.241G>C	c.(241-243)Gag>Cag	p.E81Q		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	81					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			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GTGCCAAACTCTGAGGGGTCG	0.711000													14	246					0	0	0.006122	0	0
KIAA0556	23247	broad.mit.edu	37	16	27789012	27789012	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:27789012G>C	ENST00000261588.4	+	26	4652	c.4633G>C	c.(4633-4635)Gag>Cag	p.E1545Q		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1545										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GCCCACATGTGAGCCCACCGT	0.647000													26	93					0	0	0.005443	0	0
MUC16	94025	broad.mit.edu	37	19	9047213	9047213	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:9047213G>A	ENST00000397910.4	-	5	34621	c.34418C>T	c.(34417-34419)aCa>aTa	p.T11473I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11475	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						TGGGAAAGTTGTAGTGCTGTC	0.507000													30	57					0	0	0.009535	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374262	95374262	+	RNA	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:95374262C>T	ENST00000494840.1	-	0	1599					NR_077228.1																						TTTTGACCTTCCAGTCACAAC	0.463000													6	64					0	0	0.003080	0	0
DNAH11	8701	broad.mit.edu	37	7	21639530	21639530	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr7:21639530G>A	ENST00000328843.6	+	15	2824	c.2793G>A	c.(2791-2793)ctG>ctA	p.L931L	DNAH11_ENST00000409508.3_Silent_p.L931L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	931	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACTTCTTTCTGAAGAATACAG	0.403000									Kartagener syndrome				13	16					0	0	0.001855	0	0
FLG	2312	broad.mit.edu	37	1	152282333	152282333	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:152282333G>C	ENST00000368799.1	-	3	5064	c.5029C>G	c.(5029-5031)Cca>Gca	p.P1677A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1677	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)			CTTTCTCCTGGACTTGACCTT	0.567000									Ichthyosis				129	468					0	0	0.003610	0	0
OR2W3	343171	broad.mit.edu	37	1	248059216	248059216	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:248059216G>C	ENST00000537741.1	+	3	585	c.328G>C	c.(328-330)Gtg>Ctg	p.V110L	OR2W3_ENST00000360358.3_Missense_Mutation_p.V110L			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCTGGGTGGTGTGGAGTGCCT	0.577000													23	60					0	0	0.002299	0	0
TRIP11	9321	broad.mit.edu	37	14	92471478	92471478	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:92471478C>T	ENST00000267622.4	-	11	3215	c.2842G>A	c.(2842-2844)Gag>Aag	p.E948K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	948					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTCATTTGCTCATGCTGGTAT	0.363000			T	PDGFRB	AML								15	106					0	0	0.008871	0	0
PHF12	57649	broad.mit.edu	37	17	27244465	27244465	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:27244465C>G	ENST00000577226.1	-	7	1318	c.972G>C	c.(970-972)ctG>ctC	p.L324L	PHF12_ENST00000332830.4_Silent_p.L324L|PHF12_ENST00000268756.3_Silent_p.L324L|PHF12_ENST00000582655.1_5'UTR			Q96QT6	PHF12_HUMAN	PHD finger protein 12	324	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TCTTCTGGTTCAGCTAGGGAC	0.493000													11	47					0	0	0.008291	0	0
GALNT16	57452	broad.mit.edu	37	14	69805378	69805378	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:69805378C>G	ENST00000337827.4	+	10	1305	c.978C>G	c.(976-978)ttC>ttG	p.F326L	GALNT16_ENST00000553669.1_Missense_Mutation_p.F326L|GALNT16_ENST00000448469.3_Missense_Mutation_p.F326L	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		AGCTCTCCTTCAGGGTGTGGA	0.592000													11	92					0	0	0.008291	0	0
IGF2R	3482	broad.mit.edu	37	6	160484469	160484469	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr6:160484469C>G	ENST00000356956.1	+	27	3841	c.3693C>G	c.(3691-3693)gaC>gaG	p.D1231E		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1231					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AGGTGAAAGACCCAAGGCATG	0.493000													13	74					0	0	0.001855	0	0
ADSL	158	broad.mit.edu	37	22	40745953	40745953	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr22:40745953C>G	ENST00000216194.7	+	2	327	c.271C>G	c.(271-273)Cac>Gac	p.H91D	ADSL_ENST00000342312.6_Missense_Mutation_p.H91D|ADSL_ENST00000454266.2_Missense_Mutation_p.H91D	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	91					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						TGTGATGGCTCACGTGCACAC	0.468000													4	74					0	0	0.009096	0	0
NSUN7	79730	broad.mit.edu	37	4	40752778	40752778	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr4:40752778C>A	ENST00000381782.2	+	2	563	c.68C>A	c.(67-69)aCt>aAt	p.T23N	NSUN7_ENST00000316607.5_Missense_Mutation_p.T23N	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						TCCCAACTCACTTCCCTGCCT	0.547000													29	70					2.65835e-16	2.90803e-16	0.007291	1	0
SPON1	10418	broad.mit.edu	37	11	14280917	14280917	+	RNA	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:14280917G>A	ENST00000310358.7	+	0	2119							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		AGAGGTATGTGAAGCAGTTCC	0.652000													3	13					0	0	0.004672	0	0
BEST3	144453	broad.mit.edu	37	12	70049339	70049339	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:70049339T>A	ENST00000330891.5	-	10	1581	c.1355A>T	c.(1354-1356)aAa>aTa	p.K452I	BEST3_ENST00000488961.1_Missense_Mutation_p.K239I|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.K346I	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	452						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GAAGCAGGATTTCTTCCAGGT	0.592000													5	108					0	0	0.000602	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5306808	5306808	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:5306808G>A	ENST00000274181.7	+	21	3516	c.3378G>A	c.(3376-3378)tcG>tcA	p.S1126S		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1126					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CGGGACCCTCGAGGGGCAGCT	0.672000													4	34					0	0	0.009096	0	0
STK11	6794	broad.mit.edu	37	19	1220487	1220487	+	Missense_Mutation	SNP	G	G	A	rs121913315		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:1220487G>A	ENST00000326873.7	+	4	1753	c.580G>A	c.(580-582)Gac>Aac	p.D194N		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	194	Protein kinase.		D -> N (in PJS).|D -> V (in lung cancer; somatic mutation).|D -> Y (in melanoma; sporadic malignant; somatic mutation).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.D194Y(6)|p.Y156fs*87(4)|p.?(3)|p.D194N(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAAATCTCCGACCTGGGCGT	0.677000	D194N(ALEXANDERCELLS_LIVER)|D194N(PLCPRF5_LIVER)	14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			4	6					0	0	0.001168	0	0
BBS4	585	broad.mit.edu	37	15	73002044	73002044	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:73002044C>T	ENST00000268057.4	+	3	121	c.80C>T	c.(79-81)cCa>cTa	p.P27L	BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000395205.2_Missense_Mutation_p.P35L|BBS4_ENST00000539603.1_Missense_Mutation_p.P15L|BBS4_ENST00000564239.1_3'UTR	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	27	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						TGCCTAGCTCCAGAGTTTCCT	0.358000									Bardet-Biedl syndrome				25	90					0	0	0.006320	0	0
SSBP4	170463	broad.mit.edu	37	19	18543509	18543509	+	Splice_Site	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:18543509G>C	ENST00000270061.6	+	12	970		c.e12-1		SSBP4_ENST00000348495.5_Splice_Site	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4							nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						CTTGTCCCCAGATCCCCTACT	0.647000													11	22					0	0	0.008291	0	0
RIMKLA	284716	broad.mit.edu	37	1	42880305	42880305	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:42880305G>C	ENST00000431473.3	+	5	965	c.836G>C	c.(835-837)gGc>gCc	p.G279A		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	279	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GCTAATGTTGGCTTCCTAGCC	0.483000													23	270					0	0	0.002299	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73280574	73280574	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr4:73280574C>G	ENST00000286657.4	-	4	655	c.619G>C	c.(619-621)Gaa>Caa	p.E207Q		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	207					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.E207Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGAGCCTGTTCTACAGCTGAT	0.363000													21	52					0	0	0.012319	0	0
SATB2	23314	broad.mit.edu	37	2	200173562	200173562	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:200173562A>G	ENST00000443023.1	-	9	2949	c.1484T>C	c.(1483-1485)gTc>gCc	p.V495A	SATB2_ENST00000260926.5_Missense_Mutation_p.V554A|SATB2_ENST00000457245.1_Missense_Mutation_p.V554A|SATB2_ENST00000417098.1_Missense_Mutation_p.V554A|SATB2_ENST00000428695.1_Missense_Mutation_p.V436A			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	554						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTCATAGATGACATCCCTCTC	0.597000													21	76					0	0	0.002780	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34107680	34107680	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:34107680C>G	ENST00000341394.4	+	10	1225	c.1036C>G	c.(1036-1038)Cca>Gca	p.P346A	CAPRIN1_ENST00000530820.1_Missense_Mutation_p.P346A|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.P346A|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.P265A|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.P346A	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	346					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				CTCTTTGACTCCAGTGGCTCA	0.458000													5	48					0	0	0.000602	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94337703	94337703	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:94337703C>T	ENST00000436063.2	-	5	2049	c.1992G>A	c.(1990-1992)ctG>ctA	p.L664L		NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CTCTCATCTTCAGTGCTTTGA	0.403000													72	151					0	0	0.003610	0	0
PRKAG3	53632	broad.mit.edu	37	2	219695504	219695504	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:219695504G>A	ENST00000439262.2	-	3	214	c.119C>T	c.(118-120)tCg>tTg	p.S40L	PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000392098.3_Missense_Mutation_p.S65L|PRKAG3_ENST00000529249.1_Missense_Mutation_p.S65L	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	65					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCCTCCACCGACTTCTGCCT	0.607000													28	61					0	0	0.010818	0	0
SELT	51714	broad.mit.edu	37	3	150321201	150321201	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:150321201G>C	ENST00000471696.1	+	1	127	c.52G>C	c.(52-54)Gag>Cag	p.E18Q	SELT_ENST00000485923.1_5'UTR|SELT_ENST00000480740.1_Intron|SELT_ENST00000477889.1_5'UTR	NM_016275.3	NP_057359.2	P62341	SELT_HUMAN		18				RSE -> WSD (in Ref. 4; AAH09611).	cell redox homeostasis|selenocysteine incorporation		selenium binding							LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGTCCGGAGCGAGGCCTCGGC	0.602000													7	29					0	0	0.001984	0	0
DYM	54808	broad.mit.edu	37	18	46906126	46906126	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr18:46906126C>A	ENST00000269445.6	-	4	653	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	DYM_ENST00000442713.2_Intron	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	66				E -> K (in Ref. 2; BAC11088).		Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GGATTGTTTTCAACTGCAAGA	0.303000													15	42					2.31682e-05	2.40488e-05	0.003163	1	0
PRUNE2	158471	broad.mit.edu	37	9	79244121	79244121	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr9:79244121C>T	ENST00000428286.1	-	16	9262	c.8062G>A	c.(8062-8064)Gag>Aag	p.E2688K	PRUNE2_ENST00000223609.6_Missense_Mutation_p.E311K|PRUNE2_ENST00000376718.3_Missense_Mutation_p.E3046K|PRUNE2_ENST00000443509.2_Missense_Mutation_p.E295K|PRUNE2_ENST00000466266.2_Intron			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	3046					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATGATGCTCTCTGGAATGTGG	0.388000													4	14					0	0	0.009096	0	0
CMSS1	84319	broad.mit.edu	37	3	99881149	99881149	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:99881149G>A	ENST00000421999.2	+	4	374	c.228G>A	c.(226-228)aaG>aaA	p.K76K	CMSS1_ENST00000489081.1_Silent_p.K58K	NM_032359.3	NP_115735.2			cms1 ribosomal small subunit homolog (yeast)																		TATCTTAGAAGAAAATTACTG	0.383000													6	51					0	0	0.001168	0	0
KRT5	3852	broad.mit.edu	37	12	52910942	52910942	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:52910942C>G	ENST00000252242.4	-	6	1557	c.1167G>C	c.(1165-1167)atG>atC	p.M389I		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	389	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCATCCGGTTCATCTCAGAGA	0.522000													26	99					0	0	0.003954	0	0
SZT2	23334	broad.mit.edu	37	1	43907767	43907767	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:43907767G>A	ENST00000562955.1	+	55	7668	c.7668G>A	c.(7666-7668)agG>agA	p.R2556R	SZT2_ENST00000372442.1_Silent_p.R1714R	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2613						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTCTGGGAAGGAACTTCTTGC	0.642000													4	46					0	0	0.009096	0	0
C2orf57	165100	broad.mit.edu	37	2	232458485	232458485	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:232458485T>C	ENST00000313965.2	+	1	911	c.823T>C	c.(823-825)Tcc>Ccc	p.S275P		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	275										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CTACATGCGCTCCATGACCAG	0.662000													3	88					0	0	0.004672	0	0
NR1I3	9970	broad.mit.edu	37	1	161199674	161199674	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:161199674C>G	ENST00000367983.4	-	9	1254	c.960G>C	c.(958-960)cgG>cgC	p.R320R	NR1I3_ENST00000511676.1_Silent_p.R291R|NR1I3_ENST00000515621.1_Silent_p.R245R|NR1I3_ENST00000367979.2_Silent_p.R329R|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000479324.1_5'UTR|NR1I3_ENST00000367985.3_Silent_p.R286R|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508740.1_Intron|NR1I3_ENST00000508387.1_3'UTR|TOMM40L_ENST00000367987.1_3'UTR|NR1I3_ENST00000505005.1_Intron|NR1I3_ENST00000504010.1_Silent_p.R252R|NR1I3_ENST00000502985.1_3'UTR|NR1I3_ENST00000367982.4_Silent_p.R324R|NR1I3_ENST00000367981.3_Silent_p.R296R|NR1I3_ENST00000367980.2_Silent_p.R329R|TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000367988.3_3'UTR|NR1I3_ENST00000442691.2_Intron|NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000367984.4_Silent_p.R281R|NR1I3_ENST00000428574.2_Intron			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	324					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CATTAATGCTCCGGAGCTCAG	0.557000													15	44					0	0	0.003163	0	0
MUC4	4585	broad.mit.edu	37	3	195515905	195515905	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:195515905G>A	ENST00000463781.3	-	2	3005	c.2546C>T	c.(2545-2547)tCc>tTc	p.S849F	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S849F	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	854	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGCTGAGGCGGACAGCAATTC	0.557000													13	109					0	0	0.002450	0	0
EIF4G2	1982	broad.mit.edu	37	11	10828424	10828424	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:10828424G>C	ENST00000526148.1	-	3	560	c.50C>G	c.(49-51)tCg>tGg	p.S17W	EIF4G2_ENST00000339995.5_Missense_Mutation_p.S17W|EIF4G2_ENST00000525681.1_Missense_Mutation_p.S17W|EIF4G2_ENST00000396525.2_Missense_Mutation_p.S17W|EIF4G2_ENST00000525995.1_5'UTR	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	17					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)		TCCTCCGCCCGAAGAAGCACT	0.388000													27	94					0	0	0.005443	0	0
LRFN1	57622	broad.mit.edu	37	19	39798557	39798557	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:39798557C>G	ENST00000248668.4	-	2	2031	c.2032G>C	c.(2032-2034)Gag>Cag	p.E678Q		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	678						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GTTGGTGGCTCCAGGGCGCCG	0.716000													3	8					0	0	0.009096	0	0
GPR160	26996	broad.mit.edu	37	3	169802027	169802027	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:169802027C>T	ENST00000355897.5	+	4	875	c.267C>T	c.(265-267)ttC>ttT	p.F89F		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	89						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GCATTAGGTTCACTAAATACC	0.303000													8	82					0	0	0.003080	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	44					0	0	0.009096	0	0
SLC6A7	6534	broad.mit.edu	37	5	149576346	149576346	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:149576346C>G	ENST00000230671.2	+	3	656	c.285C>G	c.(283-285)ctC>ctG	p.L95L	SLC6A7_ENST00000524041.1_Silent_p.L95L	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	95						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)	TCCTGGAGCTCTCCCTGGGCC	0.642000													39	115					0	0	0.007835	0	0
MUC16	94025	broad.mit.edu	37	19	9000195	9000195	+	Missense_Mutation	SNP	T	T	C	rs150399289	by1000genomes	TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:9000195T>C	ENST00000397910.4	-	55	40765	c.40562A>G	c.(40561-40563)aAc>aGc	p.N13521S	MUC16_ENST00000380951.5_Missense_Mutation_p.N162S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13523	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						AACACTGGTGTTCTTGAACAC	0.567000													30	39					0	0	0.009535	0	0
LTBP4	8425	broad.mit.edu	37	19	41125251	41125251	+	Splice_Site	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:41125251G>A	ENST00000308370.7	+	26	3268		c.e26-1		LTBP4_ENST00000602240.1_Splice_Site|LTBP4_ENST00000396819.3_Splice_Site|LTBP4_ENST00000204005.9_Splice_Site|LTBP4_ENST00000545697.1_Splice_Site|LTBP4_ENST00000243562.9_Splice_Site	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4						growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTGCTTACAGATGTGAACGA	0.468000													38	104					0	0	0.006999	0	0
SCN2A	6326	broad.mit.edu	37	2	166210745	166210745	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:166210745C>T	ENST00000357398.3	+	17	3253	c.2963C>T	c.(2962-2964)tCt>tTt	p.S988F	SCN2A_ENST00000375427.2_Missense_Mutation_p.S988F|SCN2A_ENST00000283256.6_Missense_Mutation_p.S988F|SCN2A_ENST00000375437.2_Missense_Mutation_p.S988F			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	988					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)	TCCTTCAGTTCTGACAATCTT	0.383000													40	171					0	0	0.011902	0	0
LAT	27040	broad.mit.edu	37	16	28997455	28997455	+	Splice_Site	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:28997455G>C	ENST00000395456.2	+	4	485		c.e4-1		LAT_ENST00000564277.1_Splice_Site|LAT_ENST00000563964.1_Intron|LAT_ENST00000566177.1_Splice_Site|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000354453.4_Splice_Site|LAT_ENST00000360872.5_Splice_Site|LAT_ENST00000395461.3_Splice_Site|LAT_ENST00000454369.2_Splice_Site	NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN	linker for activation of T cells						calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				TGTGTCCTCAGACACGGTTGC	0.612000													36	83					0	0	0.006230	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681334	44681334	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr22:44681334C>T	ENST00000381176.4	-	4	705	c.573G>A	c.(571-573)ctG>ctA	p.L191L		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	191						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				GGAAGGTCATCAGCGGTGGGC	0.607000													19	72					0	0	0.012319	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1																						CTCTCTCCTGTGGGAGGGGGG	0.632000													3	21					0	0	0.001168	0	0
ALG11	440138	broad.mit.edu	37	13	52593181	52593181	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr13:52593181G>A	ENST00000521508.1	+	2	182	c.177G>A	c.(175-177)ggG>ggA	p.G59G	ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		GCAAAAATGGGAAAAATCAAA	0.388000													16	39					0	0	0.003163	0	0
G6PD	2539	broad.mit.edu	37	X	153760233	153760233	+	Silent	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chrX:153760233C>A	ENST00000393562.2	-	13	2003	c.1620G>T	c.(1618-1620)gtG>gtT	p.V540V	G6PD_ENST00000369620.2_Silent_p.V556V|G6PD_ENST00000393564.2_Silent_p.V510V	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	510					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGTGGGGGTTCACCCACTTGT	0.677000													7	9					8.12818e-05	8.39312e-05	0.001984	1	0
ZNF383	163087	broad.mit.edu	37	19	37726940	37726940	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:37726940A>G	ENST00000589413.1	+	7	779	c.196A>G	c.(196-198)Atg>Gtg	p.M66V	ZNF383_ENST00000590503.1_Missense_Mutation_p.M66V|ZNF383_ENST00000352998.3_Missense_Mutation_p.M66V			Q8NA42	ZN383_HUMAN	zinc finger protein 383	66	KRAB.				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)			AGAGCCCTGGATGGTTGGCAG	0.498000													26	71					0	0	0.007291	0	0
GDPD3	79153	broad.mit.edu	37	16	30116264	30116264	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:30116264C>T	ENST00000406256.3	-	10	1263	c.886G>A	c.(886-888)Gtc>Atc	p.V296I		NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	296	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						TCCGTTATGACGCCAGTGGCT	0.567000													15	43					0	0	0.003163	0	0
MAP1A	4130	broad.mit.edu	37	15	43815940	43815940	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:43815940G>A	ENST00000382031.1	+	5	3014	c.2983G>A	c.(2983-2985)Gat>Aat	p.D995N	MAP1A_ENST00000399453.1_Missense_Mutation_p.D757N|MAP1A_ENST00000300231.5_Missense_Mutation_p.D757N			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	757						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)	GGAGATCCATGATGAGCCGGA	0.562000													11	16					0	0	0.008291	0	0
AKAP13	11214	broad.mit.edu	37	15	86118486	86118486	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:86118486C>G	ENST00000394518.2	+	6	882	c.787C>G	c.(787-789)Cat>Gat	p.H263D	AKAP13_ENST00000361243.2_Missense_Mutation_p.H263D	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	263					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGATTCACATCATGAACACCC	0.393000													33	91					0	0	0.003271	0	0
GRAMD2	196996	broad.mit.edu	37	15	72460095	72460095	+	Silent	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:72460095G>T	ENST00000309731.7	-	5	367	c.354C>A	c.(352-354)ctC>ctA	p.L118L		NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	118	GRAM.					integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						CCTTGCCAAAGAGGCTGGCAT	0.597000													16	63					6.94344e-10	7.42133e-10	0.006122	1	0
MALAT1	378938	broad.mit.edu	37	11	65271805	65271805	+	RNA	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:65271805G>C	ENST00000534336.1	+	0	6573					NR_002819.2																						AGACTTCACAGAGAATGCAGT	0.413000													6	21					0	0	0.001168	0	0
SOD1	6647	broad.mit.edu	37	21	33031995	33031995	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr21:33031995G>A	ENST00000270142.6	+	0	61				SOD1_ENST00000389995.4_De_novo_Start_InFrame	NM_000454.4	NP_000445.1	P00441	SODC_HUMAN	superoxide dismutase 1, soluble						activation of MAPK activity|auditory receptor cell stereocilium organization|cell aging|cellular iron ion homeostasis|DNA fragmentation involved in apoptotic nuclear change|double-strand break repair|embryo implantation|glutathione metabolic process|heart contraction|hydrogen peroxide biosynthetic process|locomotory behavior|muscle cell homeostasis|myeloid cell homeostasis|negative regulation of cholesterol biosynthetic process|negative regulation of neuron apoptosis|neurofilament cytoskeleton organization|ovarian follicle development|peripheral nervous system myelin maintenance|placenta development|platelet activation|platelet degranulation|positive regulation of cytokine production|regulation of blood pressure|regulation of mitochondrial membrane potential|regulation of multicellular organism growth|regulation of organ growth|regulation of T cell differentiation in thymus|relaxation of vascular smooth muscle|removal of superoxide radicals|response to axon injury|response to drug|response to ethanol|response to heat|response to hydrogen peroxide|retina homeostasis|sensory perception of sound|spermatogenesis|thymus development	cytoplasmic vesicle|cytosol|dendrite cytoplasm|extracellular matrix|extracellular space|mitochondrial matrix|neuronal cell body|nucleus|peroxisome|protein complex	chaperone binding|copper ion binding|protein homodimerization activity|protein phosphatase 2B binding|superoxide dismutase activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)	4						GCGGAGACGGGGTGCTGGTTT	0.662000													5	9					0	0	0.000602	0	0
WWP2	11060	broad.mit.edu	37	16	69874159	69874159	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:69874159G>C	ENST00000359154.2	+	5	572	c.471G>C	c.(469-471)ctG>ctC	p.L157L	WWP2_ENST00000356003.2_Silent_p.L157L|WWP2_ENST00000448661.1_Silent_p.L157L|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Silent_p.L41L|WWP2_ENST00000569174.1_Silent_p.L157L	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	157					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCAGTGCCCTGACAGATGGTG	0.602000													3	68					0	0	0.009096	0	0
BRD9	65980	broad.mit.edu	37	5	887482	887482	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:887482C>T	ENST00000323510.4	-	3	362	c.363G>A	c.(361-363)atG>atA	p.M121I	BRD9_ENST00000388890.4_Missense_Mutation_p.M121I|BRD9_ENST00000467963.1_Missense_Mutation_p.M237I|BRD9_ENST00000435709.2_Missense_Mutation_p.M121I|BRD9_ENST00000483173.1_Missense_Mutation_p.M184I			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	237							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TTACTTTGCTCATCATCTTAA	0.507000													18	158					0	0	0.008871	0	0
ESRRG	2104	broad.mit.edu	37	1	216850530	216850530	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:216850530G>A	ENST00000391890.3	-	4	808	c.291C>T	c.(289-291)ctC>ctT	p.L97L	ESRRG_ENST00000408911.3_Silent_p.L120L|ESRRG_ENST00000493603.1_Silent_p.L97L|ESRRG_ENST00000359162.2_Silent_p.L97L|ESRRG_ENST00000360012.3_Silent_p.L97L|ESRRG_ENST00000361525.3_Silent_p.L97L|ESRRG_ENST00000366938.2_Silent_p.L97L|ESRRG_ENST00000493748.1_Silent_p.L97L|ESRRG_ENST00000463665.1_Silent_p.L97L|ESRRG_ENST00000361395.2_Silent_p.L97L|ESRRG_ENST00000366937.1_Silent_p.L125L|ESRRG_ENST00000366940.2_Silent_p.L97L|ESRRG_ENST00000487276.1_Silent_p.L97L	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	120					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GCATCGAGTTGAGCATGTATT	0.502000													23	103					0	0	0.003954	0	0
ATMIN	23300	broad.mit.edu	37	16	81078338	81078338	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:81078338C>G	ENST00000566488.1	+	3	2730	c.1767C>G	c.(1765-1767)gtC>gtG	p.V589V	ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Silent_p.V589V|ATMIN_ENST00000299575.4_Silent_p.V745V			O43313	ATMIN_HUMAN	ATM interactor	745					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CTGAAGGAGTCTCCACTGCTA	0.453000													10	97					0	0	0.006214	0	0
IGHV3-7	28452	broad.mit.edu	37	14	106518403	106518403	+	RNA	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:106518403C>T	ENST00000390598.2	-	0	426																											CTGTGTCTCTCGCACAGTAAT	0.577000													19	280					0	0	0.002780	0	0
MLNR	2862	broad.mit.edu	37	13	49796350	49796350	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr13:49796350C>T	ENST00000218721.1	+	2	1076	c.1076C>T	c.(1075-1077)tCa>tTa	p.S359L	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	359					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		AACCTCATTTCAAAGAAGTAC	0.512000													37	105					0	0	0.007835	0	0
RUFY3	22902	broad.mit.edu	37	4	71660553	71660553	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr4:71660553G>A	ENST00000381006.3	+	14	2078	c.1499G>A	c.(1498-1500)aGa>aAa	p.R500K	RUFY3_ENST00000502653.1_Missense_Mutation_p.R447K	NM_001037442.2	NP_001032519.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	335					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AAAGAAAGAAGATTACAAAAC	0.373000													6	90					0	0	0.001984	0	0
MYO7A	4647	broad.mit.edu	37	11	76873901	76873901	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:76873901C>T	ENST00000409709.3	+	14	1829	c.1557C>T	c.(1555-1557)ggC>ggT	p.G519G	MYO7A_ENST00000409893.1_Silent_p.G519G|MYO7A_ENST00000409619.2_Silent_p.G508G|MYO7A_ENST00000458637.2_Silent_p.G519G	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	519	Myosin head-like.		G -> D (in USH1B; the deleterious effect remains to be proven).		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						CTCCCCAGGGCACAGACACCA	0.597000													38	87					0	0	0.004289	0	0
KIAA1551	55196	broad.mit.edu	37	12	32135670	32135670	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:32135670C>G	ENST00000312561.4	+	4	2195	c.1781C>G	c.(1780-1782)aCt>aGt	p.T594S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		GCACGTAAGACTCAGAAGACA	0.358000													11	16					0	0	0.010729	0	0
MCM7	4176	broad.mit.edu	37	7	99696309	99696309	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr7:99696309G>A	ENST00000303887.5	-	6	1257	c.612C>T	c.(610-612)atC>atT	p.I204I	MCM7_ENST00000354230.3_Silent_p.I28I|MCM7_ENST00000343023.6_Silent_p.I204I	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	204					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)	TTGGGCACATGATCAGAGGCA	0.517000													25	88					0	0	0.003330	0	0
HERC2	8924	broad.mit.edu	37	15	28463722	28463722	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:28463722G>A	ENST00000261609.7	-	38	6049	c.5941C>T	c.(5941-5943)Cat>Tat	p.H1981Y		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1981					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATCTCAGCATGAACTCCAGCA	0.458000													37	71					0	0	0.005524	0	0
ARRDC3	57561	broad.mit.edu	37	5	90670857	90670857	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:90670857C>T	ENST00000265138.3	-	5	1018	c.752G>A	c.(751-753)cGt>cAt	p.R251H		NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	251					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GGATTCCCCACGCAAGTTAGC	0.468000													13	66					0	0	0.001855	0	0
HIVEP2	3097	broad.mit.edu	37	6	143091557	143091557	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr6:143091557C>T	ENST00000367603.2	-	5	5061	c.4319G>A	c.(4318-4320)cGa>cAa	p.R1440Q	HIVEP2_ENST00000012134.2_Missense_Mutation_p.R1440Q|HIVEP2_ENST00000367604.1_Missense_Mutation_p.R1440Q	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1440					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)		AGAAAGCATTCGCTTGCTACC	0.517000													23	57					0	0	0.002780	0	0
MAP4K1	11184	broad.mit.edu	37	19	39101700	39101700	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:39101700C>G	ENST00000591517.1	-	11	829	c.801G>C	c.(799-801)aaG>aaC	p.K267N	MAP4K1_ENST00000396857.2_Missense_Mutation_p.K267N|MAP4K1_ENST00000423454.2_Intron|MAP4K1_ENST00000589130.1_Missense_Mutation_p.K263N|MAP4K1_ENST00000586296.1_Missense_Mutation_p.K267N|MAP4K1_ENST00000589002.1_Intron	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	267	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CACTGAGCATCTTGGTGGCGC	0.532000													6	16					0	0	0.001168	0	0
FBN2	2201	broad.mit.edu	37	5	127599217	127599217	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:127599217C>G	ENST00000508053.1	-	69	9066	c.8092G>C	c.(8092-8094)Gag>Cag	p.E2698Q	FBN2_ENST00000262464.4_Missense_Mutation_p.E2698Q			P35556	FBN2_HUMAN	fibrillin 2	2698	EGF-like 47; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GACGAGCACTCATTCACGTCG	0.602000													43	127					0	0	0.010771	0	0
GATAD2B	57459	broad.mit.edu	37	1	153790563	153790563	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:153790563G>A	ENST00000368655.4	-	5	925	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	228						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R228W(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCCCCAGGCCGAGAGGGAAGC	0.522000													46	129					0	0	0.010771	0	0
RARS	5917	broad.mit.edu	37	5	167922356	167922356	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:167922356G>C	ENST00000231572.3	+	6	670	c.616G>C	c.(616-618)Gag>Cag	p.E206Q	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	206					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TATAGCTAAAGAGATGCATGT	0.428000													3	161					0	0	0.004672	0	0
GNPDA1	10007	broad.mit.edu	37	5	141385711	141385711	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:141385711C>G	ENST00000508177.1	-	3	1165	c.407G>C	c.(406-408)gGa>gCa	p.G136A	GNPDA1_ENST00000500692.2_Missense_Mutation_p.G136A|GNPDA1_ENST00000542860.1_Intron|GNPDA1_ENST00000503794.1_Missense_Mutation_p.G136A|GNPDA1_ENST00000311337.6_Missense_Mutation_p.G136A|GNPDA1_ENST00000458112.2_Missense_Mutation_p.G102A|GNPDA1_ENST00000513454.1_Missense_Mutation_p.G136A			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	136					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCTCACCTCCAACAAATAG	0.532000													25	76					0	0	0.002780	0	0
TRRAP	8295	broad.mit.edu	37	7	98545957	98545957	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr7:98545957G>C	ENST00000359863.4	+	33	4850	c.4641G>C	c.(4639-4641)ctG>ctC	p.L1547L	TRRAP_ENST00000446306.3_Silent_p.L1528L|TRRAP_ENST00000355540.3_Silent_p.L1529L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1547					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGGCGATGCTGATCGAGGTAA	0.512000													13	50					0	0	0.001855	0	0
RBM27	54439	broad.mit.edu	37	5	145651095	145651095	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:145651095C>G	ENST00000265271.5	+	19	3012	c.2846C>G	c.(2845-2847)tCt>tGt	p.S949C	RBM27_ENST00000506502.1_Missense_Mutation_p.S894C	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	949					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCATGTCCTCTCAAGGTCGA	0.478000													8	30					0	0	0.008291	0	0
AGL	178	broad.mit.edu	37	1	100366244	100366244	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:100366244C>G	ENST00000294724.4	+	26	3893	c.3415C>G	c.(3415-3417)Cta>Gta	p.L1139V	AGL_ENST00000370165.3_Missense_Mutation_p.L1139V|AGL_ENST00000361915.3_Missense_Mutation_p.L1139V|AGL_ENST00000361302.3_Missense_Mutation_p.L1123V|AGL_ENST00000361522.4_Missense_Mutation_p.L1122V|AGL_ENST00000370161.2_Missense_Mutation_p.L1123V|AGL_ENST00000370163.3_Missense_Mutation_p.L1139V	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1139					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)		CATTCCTAATCTACTGGGTGA	0.398000													37	151					0	0	0.006999	0	0
SCUBE2	57758	broad.mit.edu	37	11	9087482	9087482	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:9087482G>A	ENST00000457346.2	-	7	880	c.806C>T	c.(805-807)tCa>tTa	p.S269L	SCUBE2_ENST00000309263.3_Missense_Mutation_p.S269L|SCUBE2_ENST00000520467.1_Missense_Mutation_p.S269L|SCUBE2_ENST00000450649.2_Missense_Mutation_p.S269L			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	269						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		ATCCACCACTGATGTGGTGTT	0.522000													14	43					0	0	0.002450	0	0
ALPI	248	broad.mit.edu	37	2	233321905	233321905	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:233321905C>T	ENST00000295463.3	+	5	598	c.521C>T	c.(520-522)tCg>tTg	p.S174L		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	174					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CAGCACGCCTCGCCAGCCGGC	0.627000													16	50					0	0	0.003163	0	0
LAMA3	3909	broad.mit.edu	37	18	21404467	21404467	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr18:21404467G>C	ENST00000313654.9	+	21	2750	c.2509G>C	c.(2509-2511)Gac>Cac	p.D837H	LAMA3_ENST00000399516.3_Missense_Mutation_p.D837H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	837	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.D837N(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGTTTTGCAGACCCATTTTC	0.458000													31	75					0	0	0.009535	0	0
ALPK3	57538	broad.mit.edu	37	15	85407691	85407691	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:85407691G>A	ENST00000258888.5	+	12	5291	c.5124G>A	c.(5122-5124)ctG>ctA	p.L1708L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1708	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CACTGTATCTGATCTACCGGC	0.527000													35	59					0	0	0.004878	0	0
WDR35	57539	broad.mit.edu	37	2	20130163	20130163	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:20130163T>A	ENST00000345530.3	-	26	3263	c.3148A>T	c.(3148-3150)Aag>Tag	p.K1050*	WDR35_ENST00000281405.4_Nonsense_Mutation_p.K1039*|WDR35_ENST00000416055.2_Nonsense_Mutation_p.K523*	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1050										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCACCTGTCTTCAGTGCAGTG	0.433000													19	173					0	0	0.012213	0	0
BCKDK	10295	broad.mit.edu	37	16	31121565	31121565	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:31121565G>A	ENST00000394951.1	+	7	1086	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	BCKDK_ENST00000219794.6_Missense_Mutation_p.V155M|BCKDK_ENST00000394950.3_Missense_Mutation_p.V155M|BCKDK_ENST00000287507.3_Missense_Mutation_p.V155M			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	155					branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						CTGCCAGCTGGTGCGACAGCT	0.607000													18	66					0	0	0.004990	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959660	45959660	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr21:45959660G>C	ENST00000400375.1	-	1	418	c.374C>G	c.(373-375)tCt>tGt	p.S125C	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	125	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						CTGGCAGCTAGACTGCTGGCA	0.617000													32	113					0	0	0.002836	0	0
DTD1	92675	broad.mit.edu	37	20	18724748	18724748	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr20:18724748C>G	ENST00000377452.3	+	5	662	c.482C>G	c.(481-483)tCa>tGa	p.S161*		NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	161					D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds			large_intestine(4)|lung(1)|ovary(2)	7						aatCAGCTGTCAAAGCTCGAA	0.413000													5	8					0	0	0.000602	0	0
P4HB	5034	broad.mit.edu	37	17	79813047	79813047	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:79813047C>G	ENST00000331483.4	-	4	817	c.595G>C	c.(595-597)Gac>Cac	p.D199H	P4HB_ENST00000472244.1_5'UTR|P4HB_ENST00000439918.2_Missense_Mutation_p.D155H|P4HB_ENST00000576390.1_Intron	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	199					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.D199H(1)		NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CCATCTTTGTCGAGCTGGTAT	0.542000													65	197					0	0	0.003610	0	0
FKBPL	63943	broad.mit.edu	37	6	32097143	32097143	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr6:32097143C>T	ENST00000375156.3	-	2	685	c.415G>A	c.(415-417)Gag>Aag	p.E139K		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	139					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										GTCCAGCCCTCTGGCGGCCCT	0.562000													85	228					0	0	0.003610	0	0
NEK1	4750	broad.mit.edu	37	4	170523167	170523167	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr4:170523167G>A	ENST00000439128.2	-	3	846	c.206C>T	c.(205-207)tCa>tTa	p.S69L	NEK1_ENST00000512193.1_Missense_Mutation_p.S69L|NEK1_ENST00000511633.1_Missense_Mutation_p.S69L|NEK1_ENST00000507142.1_Missense_Mutation_p.S69L|NEK1_ENST00000510533.1_Missense_Mutation_p.S69L	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	69	Protein kinase.				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		ACCTTCAAATGATTCTCTATA	0.328000													13	75					0	0	0.001368	0	0
STEAP4	79689	broad.mit.edu	37	7	87913538	87913538	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr7:87913538G>A	ENST00000380079.4	-	2	148	c.47C>T	c.(46-48)tCa>tTa	p.S16L	AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.S16L|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.S16L|AC003991.3_ENST00000595121.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	16					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					TTGCTTTTCTGAAGAATTCAT	0.353000													10	34					0	0	0.008291	0	0
POLE	5426	broad.mit.edu	37	12	133248806	133248806	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:133248806C>T	ENST00000320574.5	-	16	1832	c.1789G>A	c.(1789-1791)Gaa>Aaa	p.E597K	POLE_ENST00000535270.1_Missense_Mutation_p.E570K	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	597					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GTTACCTCTTCAAAGTTGGTG	0.557000								DNA polymerases (catalytic subunits)					12	64					0	0	0.001368	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062393	76062393	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:76062393C>T	ENST00000260045.3	-	5	1906	c.1801G>A	c.(1801-1803)Gct>Act	p.A601T		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	601					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CATTTAAGAGCTTTGAGGTGC	0.413000													37	89					0	0	0.013114	0	0
ETS2	2114	broad.mit.edu	37	21	40194812	40194812	+	Nonstop_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr21:40194812G>T	ENST00000360214.3	+	11	1869	c.1409G>T	c.(1408-1410)tGa>tTa	p.*470L	ETS2_ENST00000360938.3_Nonstop_Mutation_p.*470L	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	0					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				ACGGAGGACTGAGGTCGCCGG	0.657000													31	11					1.74807e-11	1.87852e-11	0.010818	1	0
MALAT1	378938	broad.mit.edu	37	11	65273372	65273372	+	RNA	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:65273372G>C	ENST00000534336.1	+	0	8140					NR_002819.2																						TTGAGTGGCTGAGAGGGCTTT	0.428000													21	65					0	0	0.012319	0	0
C1orf159	54991	broad.mit.edu	37	1	1019467	1019467	+	Splice_Site	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:1019467C>T	ENST00000482816.1	-	10	821		c.e10-1		C1orf159_ENST00000379319.1_Intron|C1orf159_ENST00000448924.1_Silent_p.E292E|C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000379339.1_Silent_p.E292E|C1orf159_ENST00000294576.5_Silent_p.E256E|C1orf159_ENST00000379320.1_Silent_p.E256E			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159							integral to membrane						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;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GACCCCACGTCTCGGGAACAG	0.647000													3	23					0	0	0.004672	0	0
PMPCA	23203	broad.mit.edu	37	9	139309033	139309033	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr9:139309033G>C	ENST00000371717.3	+	5	475	c.466G>C	c.(466-468)Gat>Cat	p.D156H	PMPCA_ENST00000371720.1_Intron|PMPCA_ENST00000399219.3_Intron	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	156					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TGTGTCTGCTGATAGCAAAGG	0.572000													6	94					0	0	0.001168	0	0
FKBPL	63943	broad.mit.edu	37	6	32097257	32097257	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr6:32097257C>A	ENST00000375156.3	-	2	571	c.301G>T	c.(301-303)Gat>Tat	p.D101Y		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	101					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										AAGCTCCCATCGGGGCAGTAC	0.517000													21	84					1.01871e-10	1.09177e-10	0.008871	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85500377	85500377	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:85500377C>T	ENST00000393217.2	+	15	3422	c.3361C>T	c.(3361-3363)Caa>Taa	p.Q1121*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1121	LRRCT.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CCCACTTCTTCAAGAAACAAA	0.333000													11	61					0	0	0.010729	0	0
BIN3	55909	broad.mit.edu	37	8	22494439	22494439	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr8:22494439G>A	ENST00000276416.6	-	3	162	c.94C>T	c.(94-96)Cag>Tag	p.Q32*	BIN3_ENST00000399977.4_Silent_p.F4F|BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000519513.1_Intron|BIN3_ENST00000520292.1_Nonsense_Mutation_p.Q32*	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	32	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		ACTCACTGCTGAAGTTTTCCA	0.547000													10	44					0	0	0.008291	0	0
SYDE1	85360	broad.mit.edu	37	19	15222217	15222217	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:15222217G>A	ENST00000600252.1	+	2	1997	c.355G>A	c.(355-357)Gag>Aag	p.E119K	SYDE1_ENST00000600440.1_Missense_Mutation_p.E395K|SYDE1_ENST00000342784.2_Missense_Mutation_p.E462K			Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	462	Pro-rich.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CTGCCTATCTGAGGACCTGTA	0.592000													4	56					0	0	0.009096	0	0
NACC1	112939	broad.mit.edu	37	19	13247207	13247207	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:13247207G>C	ENST00000292431.4	+	3	1234	c.1108G>C	c.(1108-1110)Gag>Cag	p.E370Q		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	370					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						TGAGAAGCTGGAGCTGGTGAC	0.662000													12	46					0	0	0.002450	0	0
MED16	10025	broad.mit.edu	37	19	873569	873569	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:873569G>C	ENST00000312090.6	-	11	1935	c.1785C>G	c.(1783-1785)gtC>gtG	p.V595V	MED16_ENST00000606828.1_5'UTR|MED16_ENST00000395808.3_Silent_p.V595V|MED16_ENST00000269814.4_Silent_p.V595V|MED16_ENST00000589119.1_Silent_p.V595V|MED16_ENST00000325464.1_Silent_p.V595V			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	595					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|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)		GGTTGATCATGACCTTGTCAA	0.572000													21	33					0	0	0.008871	0	0
IGF1R	3480	broad.mit.edu	37	15	99459287	99459287	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:99459287G>C	ENST00000268035.6	+	9	2534	c.1923G>C	c.(1921-1923)ctG>ctC	p.L641L	IGF1R_ENST00000558762.1_Silent_p.L641L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	641	Fibronectin type-III 2.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	ACGGCAACCTGAGTTACTACA	0.557000													33	105					0	0	0.002836	0	0
SMIM21	284274	broad.mit.edu	37	18	73122767	73122767	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr18:73122767G>C	ENST00000382638.3	-	2	297	c.227C>G	c.(226-228)tCa>tGa	p.S76*	SMIM21_ENST00000579022.1_3'UTR|RP11-321M21.3_ENST00000578340.1_Intron|RP11-321M21.3_ENST00000579386.1_Intron					small integral membrane protein 21																		TTTTCATCTTGAGCAGGGGAA	0.398000													4	15					0	0	0.009096	0	0
TOPORS	10210	broad.mit.edu	37	9	32542604	32542604	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr9:32542604C>T	ENST00000360538.2	-	3	2035	c.1919G>A	c.(1918-1920)aGa>aAa	p.R640K	TOPORS_ENST00000379858.1_Missense_Mutation_p.R575K	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	640	Arg-rich.|Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TTTGTCTCTTCTCCCTCTAGG	0.423000													80	236					0	0	0.003610	0	0
TBC1D31	93594	broad.mit.edu	37	8	124138784	124138784	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr8:124138784G>C	ENST00000287380.1	+	13	1831	c.1741G>C	c.(1741-1743)Gaa>Caa	p.E581Q	TBC1D31_ENST00000378080.2_Missense_Mutation_p.E476Q|TBC1D31_ENST00000522420.1_Missense_Mutation_p.E476Q|TBC1D31_ENST00000518805.1_Missense_Mutation_p.E214Q|TBC1D31_ENST00000327098.5_Missense_Mutation_p.E581Q|TBC1D31_ENST00000521676.1_Missense_Mutation_p.E458Q|TBC1D31_ENST00000309336.3_Missense_Mutation_p.E581Q	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		TGTGTTCTCAGAAGTGCTGAC	0.368000													14	28					0	0	0.002450	0	0
ESR2	2100	broad.mit.edu	37	14	64746790	64746790	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:64746790G>A	ENST00000557772.1	-	2	443	c.444C>T	c.(442-444)ttC>ttT	p.F148F	ESR2_ENST00000341099.4_Silent_p.F148F|ESR2_ENST00000267525.6_Silent_p.F148F|ESR2_ENST00000555483.1_Intron|ESR2_ENST00000554572.1_Silent_p.F148F|ESR2_ENST00000555278.1_Silent_p.F148F|ESR2_ENST00000553796.1_Silent_p.F148F|ESR2_ENST00000542956.1_Silent_p.F148F|ESR2_ENST00000358599.5_Silent_p.F148F|ESR2_ENST00000357782.2_Silent_p.F148F|ESR2_ENST00000353772.3_Silent_p.F148F	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	148	Modulating.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	AGACAGCGCAGAAGTGAGCAT	0.478000													39	190					0	0	0.006230	0	0
ZNF546	339327	broad.mit.edu	37	19	40519724	40519724	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:40519724G>C	ENST00000347077.4	+	7	763	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.E157Q	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACATGAATTTGAGAGACAAGA	0.358000													22	32					0	0	0.002299	0	0
CDKN1B	1027	broad.mit.edu	37	12	12874066	12874066	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:12874066C>A	ENST00000396340.1	+	2	561	c.543C>A	c.(541-543)ttC>ttA	p.F181L	CDKN1B_ENST00000477087.1_3'UTR|CDKN1B_ENST00000228872.4_3'UTR			P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	0					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		TCGCTGACTTCATGGAATGGA	0.328000													6	20					0.00116845	0.00120027	0.001168	1	0
MALAT1	378938	broad.mit.edu	37	11	65272327	65272327	+	RNA	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:65272327G>A	ENST00000534336.1	+	0	7095					NR_002819.2																						AAGGGCCAGAGAAGCCAGACC	0.413000													12	31					0	0	0.002450	0	0
OCLM	10896	broad.mit.edu	37	1	186370311	186370311	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:186370311G>C	ENST00000574641.1	+	1	608	c.134G>C	c.(133-135)tGa>tCa	p.*45S	C1orf27_ENST00000419367.3_Intron|C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000287859.6_Intron|C1orf27_ENST00000367470.3_Intron	NM_022375.3	NP_071770.1	Q9Y5M6	TISR_HUMAN	oculomedin	0					visual perception												TTAGTACTTTGAAATTTTTGC	0.289000													8	21					0	0	0.003080	0	0
PTCH2	8643	broad.mit.edu	37	1	45295679	45295679	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:45295679C>G	ENST00000447098.2	-	7	848	c.837G>C	c.(835-837)ctG>ctC	p.L279L	PTCH2_ENST00000372192.3_Silent_p.L279L	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	279					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)					AGCCCCCACTCAGCTCGTGAG	0.607000									Basal Cell Nevus syndrome				10	42					0	0	0.008291	0	0
TANC1	85461	broad.mit.edu	37	2	160087378	160087378	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:160087378C>T	ENST00000263635.6	+	27	5678	c.5441C>T	c.(5440-5442)tCt>tTt	p.S1814F	TANC1_ENST00000454300.1_Missense_Mutation_p.S1708F	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1814						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						CCAGTCCACTCTCAAGAGAAC	0.463000													8	43					0	0	0.006214	0	0
ZMYM3	9203	broad.mit.edu	37	X	70470284	70470284	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chrX:70470284C>T	ENST00000373998.1	-	5	1768	c.1071G>A	c.(1069-1071)aaG>aaA	p.K357K	ZMYM3_ENST00000373982.1_Silent_p.K359K|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000373988.1_Silent_p.K359K|ZMYM3_ENST00000314425.5_Silent_p.K357K|ZMYM3_ENST00000373984.3_Silent_p.K359K|ZMYM3_ENST00000353904.2_Silent_p.K357K|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373981.1_Silent_p.K357K	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	357					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.K357K(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TCACGCACTTCTTGCAGAAGG	0.557000													4	2					0	0	0.009096	0	0
SPOCK1	6695	broad.mit.edu	37	5	136315065	136315065	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:136315065C>T	ENST00000394945.1	-	10	1254	c.1085G>A	c.(1084-1086)gGg>gAg	p.G362E	SPOCK1_ENST00000509978.1_5'UTR|SPOCK1_ENST00000282223.7_Missense_Mutation_p.G362E	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	362	Thyroglobulin type-1.				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAACTCATTCCCATATTTGTC	0.587000													4	104					0	0	0.009096	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17699613	17699613	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:17699613C>T	ENST00000399080.2	-	1	93	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	24										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCCGGGTCCTCAGGAGGCGTT	0.602000													40	109					0	0	0.004878	0	0
ANKRD17	26057	broad.mit.edu	37	4	73957704	73957704	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr4:73957704G>A	ENST00000358602.4	-	29	5757	c.5641C>T	c.(5641-5643)Ctt>Ttt	p.L1881F	ANKRD17_ENST00000330838.6_Missense_Mutation_p.L1630F|ANKRD17_ENST00000509867.2_Missense_Mutation_p.L1768F	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1881					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTAATGGAAGAGAAACTGGA	0.483000													21	116					0	0	0.008871	0	0
TSPYL5	85453	broad.mit.edu	37	8	98289207	98289207	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr8:98289207C>G	ENST00000322128.3	-	1	969	c.866G>C	c.(865-867)aGa>aCa	p.R289T		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	289					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GTAGCCCAATCTGGCAAGGCC	0.473000													27	69					0	0	0.004656	0	0
DMD	1756	broad.mit.edu	37	X	32398771	32398771	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chrX:32398771C>A	ENST00000357033.4	-	34	4907	c.4701G>T	c.(4699-4701)gaG>gaT	p.E1567D	DMD_ENST00000378677.2_Missense_Mutation_p.E1563D	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1567	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCAAGCATTTCTCCAACTGTT	0.338000													23	17					1.28384e-07	1.35393e-07	0.012319	1	0
FUBP3	8939	broad.mit.edu	37	9	133507625	133507625	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr9:133507625C>A	ENST00000319725.9	+	16	1545	c.1470C>A	c.(1468-1470)agC>agA	p.S490R		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	490					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		GCTGGGGCAGCACCTACCAGG	0.622000													12	32					4.3838e-07	4.60474e-07	0.001855	1	0
AKAP3	10566	broad.mit.edu	37	12	4736776	4736776	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:4736776C>G	ENST00000545990.2	-	5	1816	c.1292G>C	c.(1291-1293)aGa>aCa	p.R431T	AKAP3_ENST00000228850.1_Missense_Mutation_p.R431T	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	431					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						CATTTTTTCTCTCAATTTAGT	0.408000													21	108					0	0	0.008871	0	0
VPS13C	54832	broad.mit.edu	37	15	62228879	62228879	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:62228879G>A	ENST00000261517.5	-	48	5745	c.5672C>T	c.(5671-5673)tCa>tTa	p.S1891L	VPS13C_ENST00000395896.4_Missense_Mutation_p.S1891L|VPS13C_ENST00000395898.3_Missense_Mutation_p.S1848L|VPS13C_ENST00000249837.3_Missense_Mutation_p.S1848L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1891					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCTTGGTTGTGAGGAAGCTTC	0.373000													8	18					0	0	0.003080	0	0
CERS3	204219	broad.mit.edu	37	15	100943007	100943007	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:100943007C>G	ENST00000284382.4	-	13	1486	c.1063G>C	c.(1063-1065)Gag>Cag	p.E355Q	CERS3_ENST00000394113.1_Missense_Mutation_p.E355Q|CERS3_ENST00000560944.1_5'UTR|CERS3_ENST00000538112.2_Missense_Mutation_p.E355Q|RP11-168G16.2_ENST00000560718.1_RNA|RP11-168G16.2_ENST00000560643.1_RNA	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	355	Poly-Glu.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TTGGTAGcctcttcttcttcc	0.483000													7	23					0	0	0.003080	0	0
PRND	23627	broad.mit.edu	37	20	4705248	4705248	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr20:4705248C>G	ENST00000305817.2	+	2	122	c.51C>G	c.(49-51)ctC>ctG	p.L17L		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	17					protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						GCATGCTGCTCTTCAGCCACC	0.632000													23	64					0	0	0.002299	0	0
ZNF385B	151126	broad.mit.edu	37	2	180634445	180634445	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:180634445T>C	ENST00000410066.1	-	3	641	c.38A>G	c.(37-39)aAg>aGg	p.K13R		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	13						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CTTTATCCCCTTTTCTTCAAA	0.423000													3	87					0	0	0.004672	0	0
BMPR2	659	broad.mit.edu	37	2	203395617	203395617	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:203395617G>A	ENST00000374580.4	+	8	1607	c.1068G>A	c.(1066-1068)atG>atA	p.M356I	BMPR2_ENST00000374574.2_Missense_Mutation_p.M356I	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	356	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GACTGTCCATGAGGCTGACTG	0.418000													9	23					0	0	0.008291	0	0
CCDC80	151887	broad.mit.edu	37	3	112358405	112358405	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:112358405C>T	ENST00000206423.3	-	2	1301	c.348G>A	c.(346-348)gaG>gaA	p.E116E	CCDC80_ENST00000439685.2_Silent_p.E116E|CCDC80_ENST00000475181.1_5'UTR	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	116										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CTCTGATCATCTCACGCGGAG	0.602000													27	108					0	0	0.008361	0	0
FAM151A	338094	broad.mit.edu	37	1	55081832	55081832	+	Silent	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:55081832G>T	ENST00000302250.2	-	3	436	c.276C>A	c.(274-276)gtC>gtA	p.V92V	FAM151A_ENST00000371304.2_Silent_p.V92V|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	92						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CAGCCTCCAGGACTGTGATGT	0.453000													29	69					1.74807e-11	1.87852e-11	0.010818	1	0
SVIL	6840	broad.mit.edu	37	10	29821937	29821937	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr10:29821937C>A	ENST00000375398.2	-	10	1808	c.1359G>T	c.(1357-1359)aaG>aaT	p.K453N	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.K453N			O95425	SVIL_HUMAN	supervillin	453					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GTAGGGTTTTCTTGCTTTGCT	0.483000													25	38					0.00106085	0.00109116	0.006320	1	0
TRIP11	9321	broad.mit.edu	37	14	92469811	92469811	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:92469811C>T	ENST00000267622.4	-	11	4882	c.4509G>A	c.(4507-4509)atG>atA	p.M1503I		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1503			M -> V (in dbSNP:rs34839498).		transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CCTTCTCCTTCATTGAGTGGC	0.413000			T	PDGFRB	AML								15	64					0	0	0.003163	0	0
SDK1	221935	broad.mit.edu	37	7	4213926	4213926	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr7:4213926G>T	ENST00000404826.2	+	33	5012	c.4873G>T	c.(4873-4875)Gcc>Tcc	p.A1625S	SDK1_ENST00000389531.3_Missense_Mutation_p.A1625S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1625	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGAGTATGAAGCCGGGTCAGG	0.552000													42	256					1.38658e-30	1.53805e-30	0.003610	1	0
GPR179	440435	broad.mit.edu	37	17	36499096	36499096	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:36499096C>T	ENST00000342292.4	-	1	597	c.577G>A	c.(577-579)Gac>Aac	p.D193N		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	193						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCAGGGGTGTCCAGGTCCCCA	0.637000													18	77					0	0	0.006122	0	0
LYPLAL1	127018	broad.mit.edu	37	1	219384873	219384873	+	Nonsense_Mutation	SNP	C	C	T	rs140122550		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:219384873C>T	ENST00000366928.5	+	5	564	c.517C>T	c.(517-519)Cag>Tag	p.Q173*	LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Nonsense_Mutation_p.Q157*	NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	173						cytoplasm	lysophospholipase activity			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TGAATTATTTCAGTGTCATGG	0.353000													29	104					0	0	0.007291	0	0
MALAT1	378938	broad.mit.edu	37	11	65272949	65272949	+	RNA	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:65272949G>A	ENST00000534336.1	+	0	7717					NR_002819.2																						GGGAAAGGGGGAAAGCGGGCA	0.488000													19	87					0	0	0.010504	0	0
VSTM2L	128434	broad.mit.edu	37	20	36572481	36572481	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr20:36572481C>T	ENST00000373459.4	+	2	460	c.220C>T	c.(220-222)Cag>Tag	p.Q74*	VSTM2L_ENST00000373458.3_Silent_p.F130F|VSTM2L_ENST00000373461.4_Silent_p.F147F			Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	0	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				TCATCGACTTCAGCGACGGCA	0.672000													8	20					0	0	0.004482	0	0
SSFA2	6744	broad.mit.edu	37	2	182763789	182763789	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:182763789G>A	ENST00000431877.2	+	6	632	c.453G>A	c.(451-453)ggG>ggA	p.G151G	SSFA2_ENST00000409001.1_Silent_p.G151G|SSFA2_ENST00000320370.7_Silent_p.G151G|SSFA2_ENST00000428267.2_5'UTR	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	151						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ATCAGAAAGGGAGAAGTATGA	0.323000													5	27					0	0	0.001168	0	0
GATA6	2627	broad.mit.edu	37	18	19761413	19761413	+	Splice_Site	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr18:19761413G>A	ENST00000269216.3	+	4	1579		c.e4-1		GATA6_ENST00000581694.1_Splice_Site	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6						blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			ACTGTTTCTAGCCTTCATCAC	0.418000													11	44					0	0	0.010729	0	0
ALPK3	57538	broad.mit.edu	37	15	85370749	85370749	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:85370749G>C	ENST00000258888.5	+	3	990	c.823G>C	c.(823-825)Gag>Cag	p.E275Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	275					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCAGCTCACAGAGGAGACCCA	0.562000													6	46					0	0	0.001168	0	0
TICRR	90381	broad.mit.edu	37	15	90144539	90144539	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:90144539C>G	ENST00000268138.7	+	10	2269	c.2164C>G	c.(2164-2166)Cag>Gag	p.Q722E	TICRR_ENST00000560985.1_Missense_Mutation_p.Q721E					TOPBP1-interacting checkpoint and replication regulator																		GTGCCAGCTTCAGGTATTTCT	0.373000													6	34					0	0	0.001984	0	0
YTHDC2	64848	broad.mit.edu	37	5	112889016	112889016	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:112889016C>T	ENST00000161863.4	+	13	2040	c.1827C>T	c.(1825-1827)atC>atT	p.I609I	YTHDC2_ENST00000515883.1_Silent_p.I609I	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	609							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TGGATTTGATCATGCATCTTC	0.343000													9	21					0	0	0.008291	0	0
TRIP11	9321	broad.mit.edu	37	14	92471131	92471131	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:92471131C>T	ENST00000267622.4	-	11	3562	c.3189G>A	c.(3187-3189)caG>caA	p.Q1063Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1063					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CCAAATCTTTCTGCTGAATAA	0.343000			T	PDGFRB	AML								14	42					0	0	0.002450	0	0
RNF169	254225	broad.mit.edu	37	11	74546869	74546869	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:74546869C>G	ENST00000299563.4	+	6	1234	c.1221C>G	c.(1219-1221)atC>atG	p.I407M		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	407							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						CTCTCATCATCAAATCAACTC	0.493000													38	120					0	0	0.006230	0	0
OGFOD3	79701	broad.mit.edu	37	17	80352382	80352382	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:80352382T>A	ENST00000329197.5	-	9	951	c.861A>T	c.(859-861)caA>caT	p.Q287H	OGFOD3_ENST00000313056.5_Intron					2-oxoglutarate and iron-dependent oxygenase domain containing 3																		CATTAACTTCTTGGAACCCAC	0.582000													18	68					0	0	0.010504	0	0
TGFBR2	7048	broad.mit.edu	37	3	30691947	30691947	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:30691947C>G	ENST00000295754.5	+	3	831	c.449C>G	c.(448-450)tCa>tGa	p.S150*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.S175*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	150					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ATCATCTTCTCAGAAGGTGAG	0.433000													17	42					0	0	0.004990	0	0
WDR35	57539	broad.mit.edu	37	2	20130164	20130164	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:20130164C>T	ENST00000345530.3	-	26	3262	c.3147G>A	c.(3145-3147)ctG>ctA	p.L1049L	WDR35_ENST00000281405.4_Silent_p.L1038L|WDR35_ENST00000416055.2_Silent_p.L522L	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1049										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTGTCTTCAGTGCAGTGT	0.438000													18	174					0	0	0.010818	0	0
LRRC41	10489	broad.mit.edu	37	1	46745255	46745255	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:46745255C>T	ENST00000343304.6	-	8	2337	c.2052G>A	c.(2050-2052)gaG>gaA	p.E684E	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	684										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTGGGCGCTTCTCAAACAGAC	0.552000													45	132					0	0	0.011902	0	0
CEP250	11190	broad.mit.edu	37	20	34054793	34054793	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr20:34054793C>T	ENST00000397527.1	+	8	1215	c.495C>T	c.(493-495)ttC>ttT	p.F165F	CEP250_ENST00000397524.1_Silent_p.F165F|CEP250_ENST00000342580.4_Silent_p.F165F	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	165					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ACACACAGTTCTTCAAGGGCT	0.522000													18	42					0	0	0.007413	0	0
ABCA2	20	broad.mit.edu	37	9	139910481	139910481	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr9:139910481C>T	ENST00000265662.5	-	22	3397	c.3250G>A	c.(3250-3252)Gaa>Aaa	p.E1084K	ABCA2_ENST00000371605.3_Missense_Mutation_p.E1083K|ABCA2_ENST00000341511.6_Missense_Mutation_p.E1084K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1083	ABC transporter 1.				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)		CAGAGGTGTTCCTCCACCGTG	0.622000													23	35					0	0	0.002299	0	0
DGKB	1607	broad.mit.edu	37	7	14613864	14613864	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr7:14613864G>A	ENST00000403951.2	-	20	2165	c.1746C>T	c.(1744-1746)atC>atT	p.I582I	DGKB_ENST00000444700.2_Silent_p.I563I|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Silent_p.I574I|DGKB_ENST00000406247.3_Silent_p.I582I|DGKB_ENST00000258767.5_Silent_p.I582I|DGKB_ENST00000402815.1_Silent_p.I581I|DGKB_ENST00000399322.3_Silent_p.I582I			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	582					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	AATTATTGATGATACTGTAAG	0.358000													4	160					0	0	0.001168	0	0
OR5H15	403274	broad.mit.edu	37	3	97887885	97887885	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:97887885C>G	ENST00000356526.2	+	1	342	c.342C>G	c.(340-342)ctC>ctG	p.L114L		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						AATGTTTTCTCTTGGCAACAA	0.378000													35	122					0	0	0.002836	0	0
ITPR3	3710	broad.mit.edu	37	6	33656530	33656530	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr6:33656530C>G	ENST00000374316.5	+	50	7726	c.6666C>G	c.(6664-6666)ttC>ttG	p.F2222L	ITPR3_ENST00000605930.1_Missense_Mutation_p.F2222L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2222					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TTGCCTTCTTCTACCCTTACA	0.612000													18	68					0	0	0.006122	0	0
TRIP11	9321	broad.mit.edu	37	14	92488028	92488028	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:92488028G>A	ENST00000267622.4	-	4	833	c.460C>T	c.(460-462)Cct>Tct	p.P154S		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	154					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AAAGCTGAAGGATGATGACTA	0.433000			T	PDGFRB	AML								11	44					0	0	0.008291	0	0
SLC9A7	84679	broad.mit.edu	37	X	46472745	46472745	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chrX:46472745C>G	ENST00000328306.4	-	16	1930	c.1905G>C	c.(1903-1905)ctG>ctC	p.L635L	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	635					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GGGGACTGGTCAGACATCGAG	0.512000													19	27					0	0	0.010504	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122958596	122958596	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:122958596C>T	ENST00000543897.1	-	12	3213	c.858G>A	c.(856-858)caG>caA	p.Q286Q	ZCCHC8_ENST00000536306.1_Silent_p.Q286Q|ZCCHC8_ENST00000538116.1_Silent_p.Q135Q|ZCCHC8_ENST00000336229.4_Silent_p.Q524Q			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	524						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		AGATCCGCCTCTGCTGTTCTT	0.572000													51	107					0	0	0.003610	0	0
MALAT1	378938	broad.mit.edu	37	11	65273364	65273364	+	RNA	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:65273364G>C	ENST00000534336.1	+	0	8132					NR_002819.2																						ATAGGCATTTGAGTGGCTGAG	0.423000													20	65					0	0	0.012319	0	0
APOB	338	broad.mit.edu	37	2	21238409	21238409	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:21238409G>A	ENST00000233242.1	-	22	3468	c.3341C>T	c.(3340-3342)aCa>aTa	p.T1114I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1114					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)	TTCTTCCTTTGTGTCACAACT	0.423000													6	33					0	0	0.003080	0	0
SNRPA	6626	broad.mit.edu	37	19	41257373	41257373	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:41257373G>C	ENST00000243563.3	+	1	610	c.60G>C	c.(58-60)aaG>aaC	p.K20N	SNRPA_ENST00000599570.1_3'UTR	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	20	RRM 1.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCAATGAGAAGATCAAGAAGG	0.522000													47	91					0	0	0.013114	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22886091	22886091	+	Silent	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr8:22886091G>T	ENST00000276431.4	-	5	785	c.501C>A	c.(499-501)gtC>gtA	p.V167V	TNFRSF10B_ENST00000542226.1_Silent_p.V16V|TNFRSF10B_ENST00000347739.3_Silent_p.V167V|TNFRSF10B_ENST00000519910.1_5'UTR	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	167					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TACAATCACCGACCTTGACCA	0.562000													32	96					9.78485e-24	1.08235e-23	0.002836	1	0
C16orf72	29035	broad.mit.edu	37	16	9210767	9210767	+	Nonstop_Mutation	SNP	T	T	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:9210767T>A	ENST00000327827.7	+	4	1223	c.826T>A	c.(826-828)Taa>Aaa	p.*276K		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	0										endometrium(4)|large_intestine(2)|lung(2)	8						CAGAATGATCTAAACTGCAAA	0.453000													14	84					0	0	0.004007	0	0
CXCR2	3579	broad.mit.edu	37	2	219000410	219000410	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:219000410C>T	ENST00000318507.2	+	3	1313	c.886C>T	c.(886-888)Ctg>Ttg	p.L296L		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	296					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CGACCGGGCTCTGGATGCCAC	0.587000													34	74					0	0	0.010818	0	0
ALPK3	57538	broad.mit.edu	37	15	85405874	85405874	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:85405874G>A	ENST00000258888.5	+	10	4911	c.4744G>A	c.(4744-4746)Gag>Aag	p.E1582K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1582					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGTTGGAGAAGAGATTGAGAT	0.572000													19	58					0	0	0.010504	0	0
RUNX1	861	broad.mit.edu	37	21	36171624	36171624	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr21:36171624G>A	ENST00000344691.4	-	5	2437	c.860C>T	c.(859-861)tCt>tTt	p.S287F	RUNX1_ENST00000399240.1_Missense_Mutation_p.S223F|RUNX1_ENST00000437180.1_Missense_Mutation_p.S314F|RUNX1_ENST00000325074.5_Missense_Mutation_p.S302F|RUNX1_ENST00000300305.3_Missense_Mutation_p.S314F	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	287	Pro/Ser/Thr-rich.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.S314fs*168(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						AAGTTCTGCAGAGAGGGTTGT	0.532000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								6	97					0	0	0.001984	0	0
KIAA1429	25962	broad.mit.edu	37	8	95508622	95508622	+	Silent	SNP	T	T	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr8:95508622T>C	ENST00000297591.5	-	18	4392	c.4317A>G	c.(4315-4317)aaA>aaG	p.K1439K	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1439					mRNA processing|RNA splicing	nucleus		p.K1439fs*18(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTAGAAGCTGTTTTAACTCTG	0.393000													17	35					0	0	0.004990	0	0
SMC4	10051	broad.mit.edu	37	3	160137327	160137327	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:160137327G>T	ENST00000357388.3	+	12	2304	c.1853G>T	c.(1852-1854)aGa>aTa	p.R618I	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.R618I|SMC4_ENST00000360111.2_Missense_Mutation_p.R618I|SMC4_ENST00000344722.5_Missense_Mutation_p.R618I|SMC4_ENST00000469762.1_Missense_Mutation_p.R593I	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	618	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATATATGGAAGATTGGTAAAG	0.353000													7	65					8.12818e-05	8.39312e-05	0.001984	1	0
EGFR	1956	broad.mit.edu	37	7	55224337	55224337	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr7:55224337C>A	ENST00000275493.2	+	9	1295	c.1118C>A	c.(1117-1119)cCg>cAg	p.P373Q	EGFR_ENST00000344576.2_Missense_Mutation_p.P373Q|EGFR_ENST00000442591.1_Missense_Mutation_p.P373Q|EGFR_ENST00000342916.3_Missense_Mutation_p.P373Q|EGFR_ENST00000420316.2_Missense_Mutation_p.P373Q|EGFR_ENST00000455089.1_Missense_Mutation_p.P328Q|EGFR_ENST00000454757.2_Missense_Mutation_p.P320Q	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	373					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CACATCCTGCCGGTGGCATTT	0.403000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			13	57					1.3612e-06	1.42602e-06	0.003163	1	0
PGBD1	84547	broad.mit.edu	37	6	28251866	28251866	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr6:28251866C>G	ENST00000405948.2	+	2	696	c.276C>G	c.(274-276)ttC>ttG	p.F92L	PGBD1_ENST00000259883.3_Missense_Mutation_p.F92L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	92	SCAN box.				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TGGAGCAGTTCCTGACCATCC	0.537000													26	74					0	0	0.003954	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681333	44681333	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr22:44681333T>A	ENST00000381176.4	-	4	706	c.574A>T	c.(574-576)Atg>Ttg	p.M192L		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	192						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TGGAAGGTCATCAGCGGTGGG	0.607000													19	71					0	0	0.002299	0	0
PSMG1	8624	broad.mit.edu	37	21	40549373	40549373	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr21:40549373C>G	ENST00000331573.3	-	6	1245	c.780G>C	c.(778-780)aaG>aaC	p.K260N	PSMG1_ENST00000380900.2_Missense_Mutation_p.K239N	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	260					proteasome assembly	endoplasmic reticulum	protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				TAACCAAACCCTTCAAGCTTC	0.323000													8	21					0	0	0.003080	0	0
FASN	2194	broad.mit.edu	37	17	80044282	80044282	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:80044282G>C	ENST00000306749.2	-	22	3798	c.3580C>G	c.(3580-3582)Ctg>Gtg	p.L1194V		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1194					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TCCAGCTGCAGGTTCCCGTTG	0.697000													12	27					0	0	0.001855	0	0
ABCA2	20	broad.mit.edu	37	9	139913234	139913234	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr9:139913234C>T	ENST00000265662.5	-	13	1903	c.1756G>A	c.(1756-1758)Gag>Aag	p.E586K	ABCA2_ENST00000371605.3_Missense_Mutation_p.E585K|ABCA2_ENST00000341511.6_Missense_Mutation_p.E586K|ABCA2_ENST00000492260.1_5'UTR			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	585					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)		ATGCTCTCCTCGTCGTGGAAG	0.652000													17	51					0	0	0.004007	0	0
DNAH10	196385	broad.mit.edu	37	12	124298073	124298073	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:124298073C>G	ENST00000409039.3	+	19	3178	c.3153C>G	c.(3151-3153)ctC>ctG	p.L1051L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1051	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)		GACTTCAGCTCAGGCATCTGG	0.438000													11	36					0	0	0.008291	0	0
NUP155	9631	broad.mit.edu	37	5	37307413	37307413	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:37307413C>G	ENST00000231498.3	-	25	3092	c.2889G>C	c.(2887-2889)caG>caC	p.Q963H	NUP155_ENST00000381843.2_Missense_Mutation_p.Q904H|NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000513532.1_Missense_Mutation_p.Q899H	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	963					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTGGAAGGCCTGAAGTCCAA	0.368000													12	65					0	0	0.001368	0	0
MAP1B	4131	broad.mit.edu	37	5	71494026	71494026	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:71494026G>C	ENST00000296755.7	+	5	5142	c.4844G>C	c.(4843-4845)aGa>aCa	p.R1615T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1615						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)		GAATGCCCAAGACCGATGTCA	0.438000													9	107					0	0	0.006214	0	0
AKR7L	246181	broad.mit.edu	37	1	19597298	19597298	+	RNA	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:19597298C>T	ENST00000420396.2	-	0	345				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						GCGCTGTGGTCAGGTGCATGT	0.622000													11	31					0	0	0.008291	0	0
C11orf84	144097	broad.mit.edu	37	11	63581231	63581231	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:63581231G>A	ENST00000294244.4	+	1	372	c.73G>A	c.(73-75)Gag>Aag	p.E25K		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	25										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						AGGGGAGGACGAGGAGGAGGC	0.677000													9	29					0	0	0.004482	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625408	140625408	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:140625408G>A	ENST00000231173.3	+	1	262	c.262G>A	c.(262-264)Gag>Aag	p.E88K		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		88	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)			GATATTAAATGAGAAGCTGGA	0.512000													5	68					0	0	0.001168	0	0
NACA	4666	broad.mit.edu	37	12	57111479	57111479	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:57111479C>G	ENST00000454682.1	-	3	4116	c.3835G>C	c.(3835-3837)Gct>Cct	p.A1279P	NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGTGGGGTAGCTAGACCTCCT	0.647000			T	BCL6	NHL								27	76					0	0	0.005443	0	0
ZFP2	80108	broad.mit.edu	37	5	178358777	178358777	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:178358777G>C	ENST00000361362.2	+	5	993	c.463G>C	c.(463-465)Gag>Cag	p.E155Q	ZFP2_ENST00000523286.1_Missense_Mutation_p.E155Q|ZFP2_ENST00000520301.1_Missense_Mutation_p.E155Q|ZFP2_ENST00000503510.2_Missense_Mutation_p.E155Q	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	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)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TCATACTGGAGAGAAACCCTA	0.413000													17	52					0	0	0.007413	0	0
PRRT1	80863	broad.mit.edu	37	6	32118683	32118683	+	Splice_Site	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr6:32118683C>T	ENST00000211413.5	-	2	144	c.19_splice	c.e2-1	p.G7_splice	PRRT1_ENST00000375152.2_Intron|PRRT1_ENST00000375150.2_Intron	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	7					response to biotic stimulus	integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GTCTGGGAGTCCTGGGGGAGG	0.607000													5	11					0	0	0.000602	0	0
BTBD6	90135	broad.mit.edu	37	14	105716079	105716079	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:105716079C>T	ENST00000463376.2	+	3	844	c.303C>T	c.(301-303)gtC>gtT	p.V101V	BRF1_ENST00000327359.3_Intron|BRF1_ENST00000546474.1_Intron|BRF1_ENST00000440513.3_Intron|BTBD6_ENST00000392554.3_Silent_p.V176V|BTBD6_ENST00000536364.1_Silent_p.V176V|BTBD6_ENST00000327471.3_Silent_p.V101V|BRF1_ENST00000379937.2_Intron			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	176	BTB.					cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		AAGCCTGTGTCAACTTTCTGG	0.567000													6	62					0	0	0.001168	0	0
ZZEF1	23140	broad.mit.edu	37	17	4009037	4009037	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:4009037G>C	ENST00000381638.2	-	7	1468	c.1344C>G	c.(1342-1344)ctC>ctG	p.L448L	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	448							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CATTAGGGGAGAGGAAAGTTG	0.453000													15	40					0	0	0.004990	0	0
SLC6A14	11254	broad.mit.edu	37	X	115585606	115585606	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chrX:115585606C>T	ENST00000371900.4	+	10	1490	c.1402C>T	c.(1402-1404)Cag>Tag	p.Q468*		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	468					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)	CTGTGTGACTCAGGTATACTA	0.358000													17	21					0	0	0.006122	0	0
RSG1	79363	broad.mit.edu	37	1	16563180	16563180	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:16563180C>T	ENST00000375599.3	-	1	477	c.58G>A	c.(58-60)Gag>Aag	p.E20K		NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	20					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						TCCTTGCCCTCGGCACTCTCG	0.632000													3	5					0	0	0.004672	0	0
IGKV1-17	28937	broad.mit.edu	37	2	89416899	89416899	+	RNA	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:89416899G>A	ENST00000490686.1	-	0	311																											TGCTGATTGTGAGAGTGAATT	0.498000													12	167					0	0	0.001855	0	0
XAF1	54739	broad.mit.edu	37	17	6665494	6665494	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:6665494G>A	ENST00000361842.3	+	5	681	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	XAF1_ENST00000441631.1_Missense_Mutation_p.E148K|XAF1_ENST00000346752.4_Missense_Mutation_p.E129K	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	148					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						TTCAGCTCCTGAAAGGGAAAT	0.408000													12	19					0	0	0.010729	0	0
NPIPA5	100288332	broad.mit.edu	37	16	15457692	15457692	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:15457692G>T	ENST00000360151.4	-	8	876	c.877C>A	c.(877-879)Ctt>Att	p.L293I		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5																		GAGGGTGGAAGGGGAGTGAGC	0.582000													7	63					9.70103e-10	1.03547e-09	0.008291	1	0
ATPAF2	91647	broad.mit.edu	37	17	17921887	17921887	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:17921887G>C	ENST00000474627.3	-	8	1000	c.846C>G	c.(844-846)gtC>gtG	p.V282V	ATPAF2_ENST00000585101.1_Intron	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	282					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					GCTTGTGCTTGACTGTGGTGC	0.642000													25	74					0	0	0.004656	0	0
GRHL1	29841	broad.mit.edu	37	2	10132193	10132193	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:10132193C>G	ENST00000324907.9	+	11	1516	c.1380C>G	c.(1378-1380)ttC>ttG	p.F460L	GRHL1_ENST00000405379.2_Missense_Mutation_p.F460L|GRHL1_ENST00000324883.5_Missense_Mutation_p.F271L	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	460					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TCACAGTTTTCAAACCCTTCA	0.433000													4	26					0	0	0.009096	0	0
NT5C3A	51251	broad.mit.edu	37	7	33060909	33060909	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr7:33060909C>G	ENST00000396152.2	-	6	615	c.313G>C	c.(313-315)Gag>Cag	p.E105Q	NT5C3A_ENST00000405342.1_Missense_Mutation_p.E105Q|NT5C3A_ENST00000409787.1_Missense_Mutation_p.E105Q|NT5C3A_ENST00000409467.1_Missense_Mutation_p.E93Q|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000242210.7_Missense_Mutation_p.E144Q|NT5C3A_ENST00000381626.2_Missense_Mutation_p.E93Q	NM_016489.12	NP_057573.2			5'-nucleotidase, cytosolic IIIA																		GGGTACTTCTCTTCTACAGTA	0.313000													19	68					0	0	0.007413	0	0
HRC	3270	broad.mit.edu	37	19	49657579	49657579	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:49657579C>G	ENST00000252825.4	-	1	1102	c.916G>C	c.(916-918)Gat>Cat	p.D306H	HRC_ENST00000595625.1_Missense_Mutation_p.D306H	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	306	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCATCATCATCATTGTCATCT	0.532000													17	55					0	0	0.004990	0	0
ARMC2	84071	broad.mit.edu	37	6	109285456	109285456	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr6:109285456C>T	ENST00000392644.4	+	16	2394	c.2226C>T	c.(2224-2226)ctC>ctT	p.L742L	ARMC2_ENST00000481850.1_3'UTR|ARMC2_ENST00000368972.3_Silent_p.L577L	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	742							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		GTGTTCTCCTCAATCTCACTG	0.473000													9	25					0	0	0.006214	0	0
EPYC	1833	broad.mit.edu	37	12	91358091	91358091	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:91358091G>A	ENST00000261172.3	-	7	903	c.811C>T	c.(811-813)Ctg>Ttg	p.L271L		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	271					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						TGCATTTCCAGAATGTTGTTA	0.338000													5	22					0	0	0.000602	0	0
INPP5D	3635	broad.mit.edu	37	2	234091127	234091127	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:234091127C>A	ENST00000359570.5	+	21	2107	c.2107C>A	c.(2107-2109)Cag>Aag	p.Q703K	INPP5D_ENST00000455936.2_Missense_Mutation_p.Q467K|INPP5D_ENST00000450745.1_Missense_Mutation_p.Q467K|INPP5D_ENST00000538935.1_3'UTR			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	715					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)		AGTCACTTCCCAGTTTGTCTC	0.507000													18	65					1.33834e-09	1.42468e-09	0.007413	1	0
GALNT10	55568	broad.mit.edu	37	5	153760021	153760021	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:153760021G>A	ENST00000297107.6	+	6	905	c.768G>A	c.(766-768)cgG>cgA	p.R256R	GALNT10_ENST00000377661.2_Silent_p.R194R|GALNT10_ENST00000425427.2_Silent_p.R256R|GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	256						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GCATTGCTCGGAACCGCAAGA	0.512000													43	126					0	0	0.009718	0	0
NUP37	79023	broad.mit.edu	37	12	102471251	102471251	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:102471251G>A	ENST00000552283.1	-	7	710	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	NUP37_ENST00000251074.1_Missense_Mutation_p.R191W			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	191					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			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						TCATAAAACCGGATTGTTCCA	0.368000													20	62					0	0	0.007413	0	0
UBQLN1	29979	broad.mit.edu	37	9	86276731	86276731	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr9:86276731C>T	ENST00000376395.4	-	11	2264	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	UBQLN1_ENST00000257468.7_Missense_Mutation_p.E553K	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	581	UBA.				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						AGTAACCTTTCAATAGCTGCA	0.383000													24	69					0	0	0.003330	0	0
TRIP11	9321	broad.mit.edu	37	14	92470704	92470704	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:92470704C>T	ENST00000267622.4	-	11	3989	c.3616G>A	c.(3616-3618)Gag>Aag	p.E1206K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1206					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TGTAGAAGCTCCTCAAATTGA	0.398000			T	PDGFRB	AML								16	64					0	0	0.004990	0	0
DPYSL4	10570	broad.mit.edu	37	10	134012379	134012379	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr10:134012379G>A	ENST00000338492.4	+	8	879	c.715G>A	c.(715-717)Gct>Act	p.A239T	DPYSL4_ENST00000368629.1_Missense_Mutation_p.A139T|DPYSL4_ENST00000368627.1_Missense_Mutation_p.A139T	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	239					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GGTGTACCGAGCTGTCACCAT	0.657000													4	41					0	0	0.009096	0	0
CACNA2D1	781	broad.mit.edu	37	7	81662153	81662153	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr7:81662153C>T	ENST00000356860.3	-	12	1441	c.1103G>A	c.(1102-1104)aGa>aAa	p.R368K	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R368K|CACNA2D1_ENST00000464354.1_5'UTR	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	368	VWFA.					voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CTCCTGGGCTCTCTCTTCTCC	0.279000													13	24					0	0	0.002450	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79973108	79973108	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:79973108C>G	ENST00000306729.7	+	13	1608	c.1511C>G	c.(1510-1512)tCt>tGt	p.S504C	ASPSCR1_ENST00000582404.1_3'UTR|ASPSCR1_ENST00000306739.4_Intron|ASPSCR1_ENST00000580534.1_Intron	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	500							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGCCGAGCCTCTCCAAGCACT	0.632000			T	TFE3	alveolar soft part sarcoma								20	79					0	0	0.010504	0	0
ANKZF1	55139	broad.mit.edu	37	2	220099962	220099962	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:220099962A>T	ENST00000323348.5	+	10	1793	c.1619A>T	c.(1618-1620)cAt>cTt	p.H540L	ANKZF1_ENST00000410034.3_Missense_Mutation_p.H540L|ANKZF1_ENST00000409849.1_Missense_Mutation_p.H330L	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	540						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTCTCCTGCATGCAGCAGCT	0.587000													28	60					0	0	0.006320	0	0
EVPL	2125	broad.mit.edu	37	17	74018542	74018542	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:74018542C>T	ENST00000301607.3	-	5	811	c.558G>A	c.(556-558)caG>caA	p.Q186Q	EVPL_ENST00000586740.1_Silent_p.Q186Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	186	Globular 1.				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						CGATCTCCTTCTGCAGGATGT	0.672000													3	44					0	0	0.004672	0	0
DNAH17	8632	broad.mit.edu	37	17	76455098	76455098	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:76455098G>A	ENST00000389840.5	-	61	9928	c.9804C>T	c.(9802-9804)atC>atT	p.I3268I	DNAH17_ENST00000585328.1_Silent_p.I3277I|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTTGTTTTTGATCCGGGACA	0.582000													21	61					0	0	0.010504	0	0
RSPH4A	345895	broad.mit.edu	37	6	116938309	116938309	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr6:116938309G>A	ENST00000229554.5	+	1	660	c.523G>A	c.(523-525)Gag>Aag	p.E175K	RSPH4A_ENST00000368580.4_Missense_Mutation_p.E175K|RSPH4A_ENST00000368581.4_Missense_Mutation_p.E175K	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	175					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TAAACAGAAAGAGCTGAGATT	0.512000									Kartagener syndrome				33	116					0	0	0.003755	0	0
BDP1	55814	broad.mit.edu	37	5	70786860	70786860	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:70786860G>A	ENST00000358731.4	+	11	1805	c.1542G>A	c.(1540-1542)aaG>aaA	p.K514K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	514					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)		AATGCAGTAAGGAGCAGATGC	0.383000													7	34					0	0	0.001984	0	0
PCNT	5116	broad.mit.edu	37	21	47773920	47773920	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr21:47773920G>A	ENST00000359568.5	+	11	1806	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	567	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGTGGGTTTAGAAGAGAAACC	0.498000													3	14					0	0	0.004672	0	0
NOTUM	147111	broad.mit.edu	37	17	79916266	79916266	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:79916266G>A	ENST00000409678.3	-	5	920	c.537C>T	c.(535-537)ttC>ttT	p.F179F		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	179						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGTAGGGGATGAAGCTGCAAC	0.612000													11	44					0	0	0.001368	0	0
MDN1	23195	broad.mit.edu	37	6	90402813	90402813	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr6:90402813C>T	ENST00000369393.3	-	63	10051	c.9936G>A	c.(9934-9936)aaG>aaA	p.K3312K	MDN1_ENST00000428876.1_Silent_p.K3312K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3312					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGGCCTGTTTCTTCAACAGGT	0.512000													14	35					0	0	0.004007	0	0
PDGFRL	5157	broad.mit.edu	37	8	17486079	17486079	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr8:17486079C>T	ENST00000541323.1	+	5	1034	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	PDGFRL_ENST00000398074.3_Missense_Mutation_p.R197W|PDGFRL_ENST00000251630.6_Missense_Mutation_p.R197W	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	197						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		GGTTCCTTGTCGGGTGACCGT	0.532000													34	89					0	0	0.003755	0	0
XIRP1	165904	broad.mit.edu	37	3	39228635	39228635	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:39228635C>T	ENST00000340369.3	-	2	2530	c.2302G>A	c.(2302-2304)Gag>Aag	p.E768K	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.E768K	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	768							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)		GCTGCAGTCTCCTGGCTCTCT	0.642000													11	28					0	0	0.010729	0	0
HOXD8	3234	broad.mit.edu	37	2	176995585	176995585	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:176995585C>T	ENST00000313173.4	+	1	1118	c.491C>T	c.(490-492)tCg>tTg	p.S164L	HOXD8_ENST00000450510.2_Missense_Mutation_p.S164L|HOXD8_ENST00000429017.1_5'UTR|HOXD8_ENST00000548663.1_Missense_Mutation_p.S60L|HOXD8_ENST00000544999.1_Missense_Mutation_p.S164L|HOXD-AS2_ENST00000440016.2_RNA	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	164					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GACTGTAAATCGTCCAGTGGT	0.488000													25	118					0	0	0.003330	0	0
KLK4	9622	broad.mit.edu	37	19	51410250	51410250	+	Silent	SNP	A	A	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:51410250A>C	ENST00000324041.1	-	5	704	c.705T>G	c.(703-705)ggT>ggG	p.G235G	KLK4_ENST00000431178.2_3'UTR	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	235	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		TGGTGTAGACACCTGGCACGC	0.552000													33	96					0	0	0.002836	0	0
GLI1	2735	broad.mit.edu	37	12	57857788	57857788	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:57857788C>G	ENST00000228682.2	+	3	198	c.107C>G	c.(106-108)tCt>tGt	p.S36C	GLI1_ENST00000546141.1_Intron|GLI1_ENST00000543426.1_Intron	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	36					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CTAGGACTGTCTGGCCCGCCC	0.552000													42	204					0	0	0.011902	0	0
SMTN	6525	broad.mit.edu	37	22	31484020	31484020	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr22:31484020G>A	ENST00000333137.7	+	3	339	c.121G>A	c.(121-123)Gag>Aag	p.E41K	SMTN_ENST00000358743.1_Missense_Mutation_p.E41K|SMTN_ENST00000347557.2_Missense_Mutation_p.E41K|SMTN_ENST00000475548.1_3'UTR	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	41					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	p.E41K(2)|p.E33K(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCAGCGGCAGGAGCTGGAGCG	0.652000													6	28					0	0	0.001984	0	0
TANGO6	79613	broad.mit.edu	37	16	68961608	68961608	+	Silent	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:68961608C>A	ENST00000261778.1	+	13	2277	c.2265C>A	c.(2263-2265)gcC>gcA	p.A755A	RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		GAGCCTTTGCCACTGAGGCCG	0.502000													14	140					1.05317e-09	1.12263e-09	0.002450	1	0
VEPH1	79674	broad.mit.edu	37	3	157188282	157188282	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:157188282C>T	ENST00000362010.2	-	3	482	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	VEPH1_ENST00000543418.1_Missense_Mutation_p.E59K|VEPH1_ENST00000537559.1_Missense_Mutation_p.E59K|VEPH1_ENST00000392832.2_Missense_Mutation_p.E59K|VEPH1_ENST00000494677.1_Missense_Mutation_p.E59K|VEPH1_ENST00000468233.1_Missense_Mutation_p.E59K|VEPH1_ENST00000392833.2_Missense_Mutation_p.E59K	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	59						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)			ATACAGATTTCAACTACTGCC	0.408000													30	121					0	0	0.003271	0	0
NPR1	4881	broad.mit.edu	37	1	153661438	153661438	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:153661438C>T	ENST00000368680.3	+	16	2899	c.2427C>T	c.(2425-2427)agC>agT	p.S809S		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	809					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GGGAGAACAGCAGCAACATCC	0.637000													32	100					0	0	0.008361	0	0
INPP1	3628	broad.mit.edu	37	2	191235867	191235867	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:191235867C>G	ENST00000392329.2	+	7	1639	c.939C>G	c.(937-939)ttC>ttG	p.F313L	INPP1_ENST00000322522.4_Missense_Mutation_p.F313L|INPP1_ENST00000541441.1_Missense_Mutation_p.F313L	NM_001128928.1	NP_001122400.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	313					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	ATACCACATTCAAATGGGACT	0.468000													15	55					0	0	0.006122	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122774	12122774	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr6:12122774G>A	ENST00000379388.2	+	4	3078	c.2746G>A	c.(2746-2748)Gga>Aga	p.G916R		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	916					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.G916R(1)		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)				TCTTGGTACTGGACAGTCCCT	0.517000													12	47					0	0	0.001368	0	0
WDR3	10885	broad.mit.edu	37	1	118483837	118483837	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:118483837C>G	ENST00000349139.4	+	8	927	c.880C>G	c.(880-882)Ctt>Gtt	p.L294V	WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	294						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		AGGCAGGATTCTTGCTTGCCA	0.413000													5	55					0	0	0.001984	0	0
ZIC5	85416	broad.mit.edu	37	13	100622424	100622424	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr13:100622424G>A	ENST00000267294.4	-	1	1739	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	502					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CGGAGCGCGCGAAGACCTTGC	0.662000													22	95					0	0	0.002780	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870254	151870254	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chrX:151870254G>C	ENST00000329342.5	+	3	1169	c.944G>C	c.(943-945)tGa>tCa	p.*315S		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	0							protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAAGAGTGAGTCTGAGCA	0.577000													29	60					0	0	0.007291	0	0
ETS2	2114	broad.mit.edu	37	21	40194646	40194646	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr21:40194646G>A	ENST00000360214.3	+	11	1703	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	ETS2_ENST00000360938.3_Missense_Mutation_p.E415K	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	415					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				GATGAACTACGAGAAGCTGAG	0.493000													60	44					0	0	0.003610	0	0
SCN1A	6323	broad.mit.edu	37	2	166900256	166900256	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:166900256C>A	ENST00000423058.2	-	11	1983	c.1966G>T	c.(1966-1968)Gga>Tga	p.G656*	AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.G656*|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.G656*|SCN1A_ENST00000409050.1_Intron|AC010127.3_ENST00000595647.1_RNA|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	656						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)	ACTGAAGGTCCACCAACCAAG	0.478000													6	75					8.12818e-05	8.39312e-05	0.001984	1	0
MAP4K1	11184	broad.mit.edu	37	19	39103253	39103253	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:39103253G>A	ENST00000591517.1	-	9	691	c.663C>T	c.(661-663)ctC>ctT	p.L221L	MAP4K1_ENST00000396857.2_Silent_p.L221L|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000589130.1_Silent_p.L217L|MAP4K1_ENST00000586296.1_Silent_p.L221L|MAP4K1_ENST00000589002.1_5'UTR	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	221	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTGCCTACCTGAGAGGGTGCA	0.607000													13	23					0	0	0.001855	0	0
FCAR	2204	broad.mit.edu	37	19	55401037	55401037	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:55401037G>A	ENST00000391723.3	+	4	562	c.562G>A	c.(562-564)Gac>Aac	p.D188N	FCAR_ENST00000391724.3_Silent_p.T190T|FCAR_ENST00000391725.3_Silent_p.T202T|FCAR_ENST00000355524.3_Silent_p.T224T|FCAR_ENST00000353758.4_Silent_p.T115T|FCAR_ENST00000391726.3_Silent_p.T116T|FCAR_ENST00000359272.4_Silent_p.T212T|FCAR_ENST00000345937.4_Silent_p.T128T|FCAR_ENST00000482092.2_3'UTR	NM_133274.2	NP_579808.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	0	Ig-like C2-type 2.				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)		AAGATTACACGACGCAGAACT	0.532000													102	303					0	0	0.003610	0	0
DENND4B	9909	broad.mit.edu	37	1	153911479	153911479	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:153911479G>C	ENST00000361217.4	-	13	2280	c.1862C>G	c.(1861-1863)tCt>tGt	p.S621C		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	621	dDENN.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGCAGCTGAGAGTAAAGTTT	0.537000													4	17					0	0	0.009096	0	0
RNF17	56163	broad.mit.edu	37	13	25348972	25348972	+	Silent	SNP	A	A	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr13:25348972A>C	ENST00000255324.5	+	3	299	c.247A>C	c.(247-249)Aga>Cga	p.R83R	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Silent_p.R83R|RNF17_ENST00000255325.5_Silent_p.R83R	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	83					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)		TGTAAATACTAGACAACGCTA	0.348000													16	27					0	0	0.004990	0	0
OPA3	80207	broad.mit.edu	37	19	46056955	46056955	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:46056955C>G	ENST00000263275.4	-	2	411	c.357G>C	c.(355-357)tgG>tgC	p.W119C	OPA3_ENST00000323060.3_Intron|OPA3_ENST00000544371.1_Missense_Mutation_p.W66C	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	119					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		GCAGCGCGTTCCAGGCAGCAC	0.716000													6	20					0	0	0.001984	0	0
NACA	4666	broad.mit.edu	37	12	57112997	57112997	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:57112997C>A	ENST00000454682.1	-	3	2598	c.2317G>T	c.(2317-2319)Gag>Tag	p.E773*	NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CCAGAGTCCTCAGTTGGGCAC	0.493000			T	BCL6	NHL								9	16					0.000442599	0.000455837	0.006214	1	0
PCDHB2	56133	broad.mit.edu	37	5	140475302	140475302	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:140475302G>C	ENST00000194155.4	+	1	1076	c.928G>C	c.(928-930)Gat>Cat	p.D310H		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		310	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)			ACAGAAACTGGATTTCGAATC	0.408000													16	49					0	0	0.004007	0	0
NACA	4666	broad.mit.edu	37	12	57110480	57110480	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:57110480C>T	ENST00000454682.1	-	3	5115	c.4834G>A	c.(4834-4836)Gag>Aag	p.E1612K	NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GTAGGTGCCTCTTTGGGGGAA	0.607000			T	BCL6	NHL								10	23					0	0	0.008291	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725254	106725254	+	RNA	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:106725254G>T	ENST00000390609.2	-	0	376																											TTCATTTGCAGATACAGCGTG	0.522000													49	399					7.84493e-40	8.71414e-40	0.003610	1	0
IRF1	3659	broad.mit.edu	37	5	131825145	131825145	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:131825145C>T	ENST00000245414.4	-	2	284	c.26G>A	c.(25-27)aGa>aAa	p.R9K	IRF1_ENST00000463784.1_Intron|IRF1_ENST00000405885.2_Missense_Mutation_p.R9K	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	9					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TAGCCAGGGTCTCATGCGCAT	0.493000													18	54					0	0	0.008871	0	0
SYT14	255928	broad.mit.edu	37	1	210334216	210334216	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:210334216G>A	ENST00000537238.1	+	9	1774	c.1383G>A	c.(1381-1383)gtG>gtA	p.V461V	SYT14_ENST00000367015.1_Silent_p.V461V|SYT14_ENST00000534859.1_Silent_p.V525V|SYT14_ENST00000367019.1_Silent_p.V518V|SYT14_ENST00000472886.1_Silent_p.V499V|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000422431.1_Silent_p.V563V|SYT14_ENST00000399639.2_3'UTR	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	499	C2 2.					integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TTTCTGATGTGACACTCATAC	0.418000													17	77					0	0	0.006122	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681481	44681481	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr22:44681481C>T	ENST00000381176.4	-	4	558	c.426G>A	c.(424-426)atG>atA	p.M142I		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	142						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				GGTCCTGTTTCATCCATCGTC	0.652000													36	95					0	0	0.003271	0	0
UNC79	57578	broad.mit.edu	37	14	94041424	94041424	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:94041424C>G	ENST00000553484.1	+	17	2245	c.2091C>G	c.(2089-2091)atC>atG	p.I697M	UNC79_ENST00000393151.2_Missense_Mutation_p.I697M|UNC79_ENST00000256339.4_Missense_Mutation_p.I520M|UNC79_ENST00000555664.1_Missense_Mutation_p.I697M			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	697						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						AGTTAGATATCATGGTTCCAC	0.328000													9	20					0	0	0.004482	0	0
EFHB	151651	broad.mit.edu	37	3	19924047	19924047	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:19924047C>G	ENST00000295824.9	-	12	2484	c.2323G>C	c.(2323-2325)Gaa>Caa	p.E775Q	EFHB_ENST00000344838.4_Missense_Mutation_p.E645Q	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	775					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TATACCTCTTCTTTTGATCTG	0.299000													3	9					0	0	0.004672	0	0
HENMT1	113802	broad.mit.edu	37	1	109191450	109191450	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:109191450G>C	ENST00000370032.5	-	8	1340	c.920C>G	c.(919-921)tCa>tGa	p.S307*	HENMT1_ENST00000402983.1_Nonsense_Mutation_p.S307*|HENMT1_ENST00000370031.1_Nonsense_Mutation_p.S338*	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	307					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity	p.G306_P310delGSKAP(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						AGGGGCCTTTGAGCCACCAAT	0.517000													9	56					0	0	0.006214	0	0
LTBR	4055	broad.mit.edu	37	12	6499994	6499994	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:6499994C>G	ENST00000228918.4	+	10	1525	c.1199C>G	c.(1198-1200)tCt>tGt	p.S400C	LTBR_ENST00000539925.1_Missense_Mutation_p.S381C|LTBR_ENST00000541102.1_Missense_Mutation_p.S257C	NM_002342.1	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	400					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CCCGGGCTCTCTACACCCCAC	0.632000													56	123					0	0	0.003610	0	0
NRXN3	9369	broad.mit.edu	37	14	79432618	79432618	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:79432618G>A	ENST00000554719.1	+	9	2018	c.1527G>A	c.(1525-1527)ctG>ctA	p.L509L	NRXN3_ENST00000335750.5_Silent_p.L509L	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCAGCTACCTGAGCCTTGCCA	0.483000													17	81					0	0	0.007413	0	0
SMCO3	440087	broad.mit.edu	37	12	14959195	14959195	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:14959195G>A	ENST00000316048.2	-	2	492	c.420C>T	c.(418-420)gtC>gtT	p.V140V	C12orf60_ENST00000527783.1_Intron|C12orf60_ENST00000330828.2_Intron	NM_001013698.2	NP_001013720.2			single-pass membrane protein with coiled-coil domains 3																		TGCCAGTTGTGACATTTGAGC	0.438000													5	110					0	0	0.001168	0	0
KLRC3	3823	broad.mit.edu	37	12	10570960	10570960	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:10570960C>G	ENST00000396439.2	-	4	513	c.469G>C	c.(469-471)Gat>Cat	p.D157H	KLRC3_ENST00000381903.2_Missense_Mutation_p.D157H|KLRC3_ENST00000381904.2_Missense_Mutation_p.D157H|NKG2-E_ENST00000539033.1_Missense_Mutation_p.D157H	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3											large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TCTTCATTATCTATACAAAGC	0.323000													29	84					0	0	0.002836	0	0
USP35	57558	broad.mit.edu	37	11	77920693	77920693	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:77920693C>G	ENST00000529308.1	+	10	2053	c.1792C>G	c.(1792-1794)Ctc>Gtc	p.L598V	USP35_ENST00000441408.2_Missense_Mutation_p.L184V|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Missense_Mutation_p.L166V|USP35_ENST00000526425.1_Missense_Mutation_p.L329V	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	598					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GGACCTCTCTCTCGCCTTCCC	0.622000													10	132					0	0	0.006214	0	0
NUDT19	390916	broad.mit.edu	37	19	33183199	33183199	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:33183199G>A	ENST00000397061.3	+	1	333	c.333G>A	c.(331-333)aaG>aaA	p.K111K		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	111	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					ATGACCACAAGACCGACAACA	0.716000													13	27					0	0	0.003163	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41738568	41738568	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr22:41738568C>T	ENST00000352645.4	+	12	1490	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	ZC3H7B_ENST00000351589.4_Silent_p.I411I	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	427					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCTTGCTCATCAAGAACCCCT	0.602000													4	47					0	0	0.009096	0	0
CAPG	822	broad.mit.edu	37	2	85628366	85628366	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:85628366C>T	ENST00000263867.4	-	5	687	c.438G>A	c.(436-438)aaG>aaA	p.K146K	CAPG_ENST00000409670.1_Silent_p.K146K|CAPG_ENST00000409724.1_Silent_p.K146K|CAPG_ENST00000409921.1_Silent_p.K146K|CAPG_ENST00000483659.1_5'UTR	NM_001256140.1|NM_001747.3	NP_001243069.1|NP_001738.2	P40121	CAPG_HUMAN	capping protein (actin filament), gelsolin-like	146					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						CACGGATGTTCTTCTTCCCCT	0.592000													34	96					0	0	0.004878	0	0
MALAT1	378938	broad.mit.edu	37	11	65272344	65272344	+	RNA	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:65272344G>A	ENST00000534336.1	+	0	7112					NR_002819.2																						GACCCAGTAAGAAAAAATAGC	0.418000													9	27					0	0	0.006214	0	0
MKNK1	8569	broad.mit.edu	37	1	47046281	47046281	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:47046281G>A	ENST00000371946.4	-	4	318	c.155C>T	c.(154-156)tCt>tTt	p.S52F	MKNK1_ENST00000428112.2_Missense_Mutation_p.S52F|MKNK1_ENST00000465783.1_Missense_Mutation_p.S52F|MKNK1_ENST00000545730.1_Missense_Mutation_p.S52F|MKNK1_ENST00000341183.5_Missense_Mutation_p.S52F|MKNK1_ENST00000371944.4_5'UTR|MKNK1_ENST00000371945.4_Missense_Mutation_p.S52F	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	52	Protein kinase.				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					AAGCAATTCAGAGGTCAGCTT	0.478000													22	41					0	0	0.003330	0	0
TAS1R3	83756	broad.mit.edu	37	1	1268701	1268701	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:1268701C>G	ENST00000339381.5	+	5	1574	c.1542C>G	c.(1540-1542)ttC>ttG	p.F514L		NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	514					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	TCAAGGGGTTCCACTCCTGCT	0.711000													4	8					0	0	0.009096	0	0
RUNX1	861	broad.mit.edu	37	21	36171681	36171681	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr21:36171681G>A	ENST00000344691.4	-	5	2380	c.803C>T	c.(802-804)tCt>tTt	p.S268F	RUNX1_ENST00000399240.1_Missense_Mutation_p.S204F|RUNX1_ENST00000437180.1_Missense_Mutation_p.S295F|RUNX1_ENST00000325074.5_Missense_Mutation_p.S283F|RUNX1_ENST00000300305.3_Missense_Mutation_p.S295F	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	268	Pro/Ser/Thr-rich.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TGGGTGCACAGAAGGAGAGGC	0.522000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								7	79					0	0	0.001984	0	0
PRKAR2A	5576	broad.mit.edu	37	3	48789027	48789027	+	Silent	SNP	G	G	A	rs143784793	byFrequency	TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:48789027G>A	ENST00000265563.8	-	11	1455	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	PRKAR2A_ENST00000454963.1_Silent_p.L402L|PRKAR2A_ENST00000296446.8_Silent_p.L380L	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	402					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		CCTACTGCCCGAGGTTGCCCA	0.522000													13	14					0	0	0.001368	0	0
PRSS3	5646	broad.mit.edu	37	9	33796723	33796723	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr9:33796723G>A	ENST00000361005.5	+	2	294	c.294G>A	c.(292-294)ctG>ctA	p.L98L	PRSS3_ENST00000342836.4_Silent_p.L55L|PRSS3_ENST00000379405.3_Silent_p.L41L|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Silent_p.L34L	NM_007343.3	NP_031369.2	P35030	TRY3_HUMAN	protease, serine, 3	98	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			AGGTGTCCCTGAATTCTGGCT	0.547000													7	178					0	0	0.006122	0	0
ANKZF1	55139	broad.mit.edu	37	2	220101166	220101166	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:220101166G>A	ENST00000323348.5	+	14	2354	c.2180G>A	c.(2179-2181)tGa>tAa	p.*727*	ANKZF1_ENST00000410034.3_Silent_p.*727*|ANKZF1_ENST00000409849.1_Silent_p.*517*	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	0						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTCTTCCTGATCTCTTACA	0.557000													12	38					0	0	0.001855	0	0
CRTC3	64784	broad.mit.edu	37	15	91161162	91161162	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:91161162C>T	ENST00000420329.2	+	8	808	c.661C>T	c.(661-663)Ccg>Tcg	p.P221S	CRTC3_ENST00000268184.6_Missense_Mutation_p.P221S	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	221					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GTTAAATGTTCCGAAGCCACT	0.438000			T	MAML2	salivary gland mucoepidermoid								12	47					0	0	0.001368	0	0
RSPH10B	222967	broad.mit.edu	37	7	5967846	5967846	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr7:5967846C>T	ENST00000405415.1	-	19	2799	c.2413G>A	c.(2413-2415)Gat>Aat	p.D805N	RSPH10B_ENST00000539903.1_3'UTR|RSPH10B_ENST00000337579.3_Missense_Mutation_p.D805N|RSPH10B_ENST00000441023.2_Missense_Mutation_p.D805N|RSPH10B_ENST00000404406.1_Missense_Mutation_p.D805N|RSPH10B_ENST00000535104.1_5'UTR			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	805										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		AGTTCGTCATCTTCCATCTTC	0.522000													46	253					0	0	0.003610	0	0
CABP1	9478	broad.mit.edu	37	12	121093905	121093905	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:121093905G>C	ENST00000453000.1	+	1	804	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	CABP1_ENST00000288616.3_Missense_Mutation_p.E19Q|CABP1_ENST00000316803.3_Intron|CABP1_ENST00000351200.2_Intron			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	0	Pro-rich.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GATGTGCCAGGAGGAACAGAC	0.652000													9	35					0	0	0.004482	0	0
WDR35	57539	broad.mit.edu	37	2	20130165	20130165	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:20130165A>G	ENST00000345530.3	-	26	3261	c.3146T>C	c.(3145-3147)cTg>cCg	p.L1049P	WDR35_ENST00000281405.4_Missense_Mutation_p.L1038P|WDR35_ENST00000416055.2_Missense_Mutation_p.L522P	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1049										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTGTCTTCAGTGCAGTGTC	0.438000													18	174					0	0	0.010818	0	0
MALAT1	378938	broad.mit.edu	37	11	65272459	65272459	+	RNA	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:65272459G>A	ENST00000534336.1	+	0	7227					NR_002819.2																						GCTTCCAGTTGAATTCACCAG	0.343000													8	18					0	0	0.003080	0	0
RHBDF1	64285	broad.mit.edu	37	16	111984	111984	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:111984G>A	ENST00000262316.6	-	8	1162	c.1020C>T	c.(1018-1020)ctC>ctT	p.L340L	RHBDF1_ENST00000454039.2_Silent_p.L340L	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	340					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CCTCCTGTCGGAGCCGCACCT	0.741000													7	10					0	0	0.003080	0	0
SARDH	1757	broad.mit.edu	37	9	136596561	136596561	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr9:136596561C>G	ENST00000371872.4	-	4	813	c.556G>C	c.(556-558)Gag>Cag	p.E186Q	SARDH_ENST00000422262.2_Missense_Mutation_p.E18Q|SARDH_ENST00000371867.1_Missense_Mutation_p.E97Q|SARDH_ENST00000298628.5_Missense_Mutation_p.E186Q|SARDH_ENST00000439388.1_Missense_Mutation_p.E186Q	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	186					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GTCTTGGTCTCTGCCGGGCTC	0.627000													7	71					0	0	0.001984	0	0
DNA2	1763	broad.mit.edu	37	10	70231756	70231756	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr10:70231756G>A	ENST00000399180.2	-	1	123	c.124C>T	c.(124-126)Cat>Tat	p.H42Y	DNA2_ENST00000399179.2_5'UTR			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	0					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TGTCCCAAATGACCTGCGCCA	0.657000													17	20					0	0	0.004990	0	0
TMEM44	93109	broad.mit.edu	37	3	194309351	194309351	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:194309351C>G	ENST00000381975.3	-	10	1255	c.1190G>C	c.(1189-1191)tGa>tCa	p.*397S	TMEM44-AS1_ENST00000453671.1_RNA|TMEM44_ENST00000473092.1_Silent_p.V408V|TMEM44-AS1_ENST00000419571.1_RNA|TMEM44_ENST00000476750.1_5'UTR|TMEM44_ENST00000273580.7_Silent_p.V409V|TMEM44_ENST00000347147.4_Silent_p.V398V|TMEM44_ENST00000392432.2_Silent_p.V445V|TMEM44-AS1_ENST00000447982.1_RNA			Q2T9K0	TMM44_HUMAN	transmembrane protein 44	0						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CTTCGAGGTTCACATCTTCAG	0.498000													10	235					0	0	0.008291	0	0
ABAT	18	broad.mit.edu	37	16	8875251	8875251	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:8875251C>A	ENST00000569156.1	+	16	1783	c.1526C>A	c.(1525-1527)tCa>tAa	p.S509*	ABAT_ENST00000396600.2_Silent_p.L489L|ABAT_ENST00000425191.2_Silent_p.L489L|ABAT_ENST00000268251.8_Silent_p.L489L|ABAT_ENST00000567812.1_Silent_p.L504L|TMEM186_ENST00000564869.1_5'UTR			P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	0					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	ACCTGTTCCTCAATATTTTCA	0.478000													20	53					5.03518e-11	5.40361e-11	0.007413	1	0
RALGDS	5900	broad.mit.edu	37	9	135985044	135985044	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr9:135985044C>T	ENST00000393160.3	-	4	741	c.388G>A	c.(388-390)Gag>Aag	p.E130K	RALGDS_ENST00000542690.1_Missense_Mutation_p.E256K|RALGDS_ENST00000372047.3_Missense_Mutation_p.E173K|RALGDS_ENST00000372050.3_Missense_Mutation_p.E185K|RALGDS_ENST00000393157.3_Missense_Mutation_p.E184K|RALGDS_ENST00000372062.3_Missense_Mutation_p.E156K	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	185	N-terminal Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CCACCATCCTCGTCGGAATAG	0.557000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								18	61					0	0	0.008871	0	0
SLC16A14	151473	broad.mit.edu	37	2	230902183	230902183	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:230902183C>G	ENST00000295190.4	-	5	1904	c.1446G>C	c.(1444-1446)atG>atC	p.M482I		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	482						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GTATTCCTATCATGTAAAGCA	0.328000													6	31					0	0	0.001984	0	0
CRELD1	78987	broad.mit.edu	37	3	9979762	9979762	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:9979762C>T	ENST00000383811.3	+	4	1031	c.432C>T	c.(430-432)ccC>ccT	p.P144P	CRELD1_ENST00000397170.3_Silent_p.P144P|CRELD1_ENST00000326434.5_Silent_p.P144P|CRELD1_ENST00000452070.1_Silent_p.P144P	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	144					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						TCTGCTGCCCCGCAGGCACCT	0.652000													5	20					0	0	0.000602	0	0
TRIP11	9321	broad.mit.edu	37	14	92470587	92470587	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:92470587C>G	ENST00000267622.4	-	11	4106	c.3733G>C	c.(3733-3735)Gag>Cag	p.E1245Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1245					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TGGTGAAGCTCTTCCTGAAGC	0.408000			T	PDGFRB	AML								8	39					0	0	0.003080	0	0
LRRC66	339977	broad.mit.edu	37	4	52861814	52861814	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr4:52861814G>C	ENST00000343457.3	-	4	1380	c.1374C>G	c.(1372-1374)ttC>ttG	p.F458L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	458						integral to membrane		p.F458L(2)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GTGTCACCCAGAAAGGGGTCT	0.562000													26	72					0	0	0.003330	0	0
RSRC1	51319	broad.mit.edu	37	3	157920866	157920866	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:157920866G>A	ENST00000295930.3	+	4	488	c.326G>A	c.(325-327)aGg>aAg	p.R109K	RSRC1_ENST00000480820.1_Missense_Mutation_p.R109K|RSRC1_ENST00000475278.2_Missense_Mutation_p.R109K|RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000312179.6_Intron	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	109	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			TGTAGGTCCAGGTCAAGACCT	0.393000													4	45					0	0	0.009096	0	0
BICD2	23299	broad.mit.edu	37	9	95481630	95481630	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr9:95481630C>G	ENST00000356884.6	-	5	1364	c.1297G>C	c.(1297-1299)Gag>Cag	p.E433Q	BICD2_ENST00000375512.3_Missense_Mutation_p.E433Q	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	433					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCCAAGATCTCAGGCCCGTTG	0.637000													6	56					0	0	0.001984	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450679	85450679	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:85450679C>G	ENST00000393217.2	+	8	2169	c.2108C>G	c.(2107-2109)tCt>tGt	p.S703C		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	703										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAAGTCAACTCTCTTAAATCT	0.373000													46	119					0	0	0.009718	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644684	20644684	+	RNA	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:20644684G>C	ENST00000428453.1	-	0	3187																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ACAGGGAAGGGAGACGGCCAC	0.632000													2	5					0	0	0.004672	0	0
NKTR	4820	broad.mit.edu	37	3	42680839	42680839	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:42680839G>C	ENST00000232978.8	+	13	3831	c.3643G>C	c.(3643-3645)Gag>Cag	p.E1215Q	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1215					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GGAGGTGGCTGAGAAGAGCCA	0.527000													21	43					0	0	0.012319	0	0
CECR2	27443	broad.mit.edu	37	22	17956654	17956654	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr22:17956654G>C	ENST00000262608.8	+	1	28	c.28G>C	c.(28-30)Gat>Cat	p.D10H	CECR2_ENST00000342247.5_Missense_Mutation_p.D9H|CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000400573.4_Missense_Mutation_p.D29H|CECR2_ENST00000497534.1_3'UTR	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	51					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)		TCTTCACAGAGATGACGTGGA	0.463000													22	57					0	0	0.003330	0	0
FLG	2312	broad.mit.edu	37	1	152283989	152283989	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:152283989C>T	ENST00000368799.1	-	3	3408	c.3373G>A	c.(3373-3375)Gaa>Aaa	p.E1125K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1125	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)			TCAGACTGTTCATGAGTGCTC	0.607000									Ichthyosis				124	299					0	0	0.003610	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27834486	27834486	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:27834486G>C	ENST00000318304.8	+	21	2204	c.1921G>C	c.(1921-1923)Gat>Cat	p.D641H	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.D610H|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.D635H|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.D488H	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	641					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TAGTGACTTGGATATGCCATT	0.418000													11	103					0	0	0.001368	0	0
FSCN3	29999	broad.mit.edu	37	7	127236417	127236417	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr7:127236417C>T	ENST00000265825.5	+	3	1096	c.877C>T	c.(877-879)Cga>Tga	p.R293*	FSCN3_ENST00000420086.2_Nonsense_Mutation_p.R159*	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	293						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GCGCTTAAACCGAATGTCCTT	0.537000													44	86					0	0	0.003610	0	0
HMGB2	3148	broad.mit.edu	37	4	174254786	174254786	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr4:174254786G>A	ENST00000296503.5	-	2	888	c.15C>T	c.(13-15)gaC>gaT	p.D5D	HMGB2_ENST00000438704.2_Silent_p.D5D|HMGB2_ENST00000446922.2_Silent_p.D5D			P26583	HMGB2_HUMAN	high mobility group box 2	5					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GCTTGTTGGGGTCTCCTTTAC	0.642000													4	64					0	0	0.009096	0	0
DIS3L2	129563	broad.mit.edu	37	2	233001212	233001212	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:233001212C>G	ENST00000325385.7	+	8	1009	c.733C>G	c.(733-735)Cga>Gga	p.R245G	DIS3L2_ENST00000409307.1_Missense_Mutation_p.R245G|DIS3L2_ENST00000360410.4_Silent_p.L264L|DIS3L2_ENST00000273009.6_Missense_Mutation_p.R245G	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	245							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AAAACATTCTCGAGCAGCAAC	0.433000													21	85					0	0	0.002780	0	0
PDE3A	5139	broad.mit.edu	37	12	20799804	20799804	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:20799804C>A	ENST00000359062.3	+	12	2525	c.2485C>A	c.(2485-2487)Ctg>Atg	p.L829M	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	829	Catalytic (By similarity).				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)	GTTGATGGCGCTGTATGTGGC	0.428000													33	126					1.62565e-12	1.7589e-12	0.012213	1	0
TRIM39	56658	broad.mit.edu	37	6	30297129	30297129	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr6:30297129C>T	ENST00000376659.5	+	3	633	c.35C>T	c.(34-36)tCt>tTt	p.S12F	TRIM39_ENST00000396547.1_Missense_Mutation_p.S12F|TRIM39_ENST00000376656.4_Missense_Mutation_p.S12F|TRIM39_ENST00000540416.1_Missense_Mutation_p.S12F|TRIM39_ENST00000396551.3_Missense_Mutation_p.S12F|TRIM39_ENST00000396548.1_Missense_Mutation_p.S12F	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						GCTGGGGCCTCTGCAGCCTCT	0.473000													50	149					0	0	0.003610	0	0
CCDC180	100499483	broad.mit.edu	37	9	100056386	100056386	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr9:100056386G>A	ENST00000357054.1	+	13	1179	c.244G>A	c.(244-246)Gac>Aac	p.D82N	RP11-23J9.5_ENST00000375204.2_RNA|CCDC180_ENST00000375202.2_5'UTR|CCDC180_ENST00000411667.2_5'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375205.2_Missense_Mutation_p.D122N|CCDC180_ENST00000395220.1_Missense_Mutation_p.D82N					coiled-coil domain containing 180																		TGAGGGAGCAGACATGGGTAA	0.607000													21	50					0	0	0.008871	0	0
TRIP11	9321	broad.mit.edu	37	14	92470328	92470328	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:92470328C>G	ENST00000267622.4	-	11	4365	c.3992G>C	c.(3991-3993)aGa>aCa	p.R1331T		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1331					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTACTTGCTCTAAGACACTC	0.383000			T	PDGFRB	AML								9	57					0	0	0.006214	0	0
BEST3	144453	broad.mit.edu	37	12	70049452	70049452	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:70049452C>G	ENST00000330891.5	-	10	1468	c.1242G>C	c.(1240-1242)agG>agC	p.R414S	BEST3_ENST00000488961.1_Missense_Mutation_p.R201S|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.R308S	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	414						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TTGTCTGCCTCCTGTAGCTTC	0.562000													25	114					0	0	0.004656	0	0
NPTX2	4885	broad.mit.edu	37	7	98256620	98256620	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr7:98256620C>G	ENST00000265634.3	+	4	1197	c.1032C>G	c.(1030-1032)atC>atG	p.I344M		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	344	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GGCACCCCATCAAGCCCGGGG	0.662000													16	40					0	0	0.007413	0	0
AKAP4	8852	broad.mit.edu	37	X	49958507	49958507	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chrX:49958507A>G	ENST00000376056.2	-	5	980	c.830T>C	c.(829-831)aTg>aCg	p.M277T	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.M277T|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Missense_Mutation_p.M286T			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	286					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)					AGTGCCACGCATTTCTGCAGC	0.498000													15	21					0	0	0.003163	0	0
NPLOC4	55666	broad.mit.edu	37	17	79563226	79563226	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:79563226C>G	ENST00000374747.5	-	11	1165	c.1036G>C	c.(1036-1038)Gac>Cac	p.D346H	NPLOC4_ENST00000331134.6_Missense_Mutation_p.D346H|NPLOC4_ENST00000539314.1_Missense_Mutation_p.D185H			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	346					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TTCTGGAAGTCTCCTGCAGTG	0.443000													24	59					0	0	0.003330	0	0
CACNA1G	8913	broad.mit.edu	37	17	48683370	48683370	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:48683370G>C	ENST00000352832.5	+	22	4711	c.4339G>C	c.(4339-4341)Gac>Cac	p.D1447H	CACNA1G_ENST00000512389.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.D1447H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.D1447H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D1447H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.D1470H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.D1447H|CACNA1G_ENST00000359106.5_Missense_Mutation_p.D1470H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.D1447H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.D1447H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.D1470H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.D1447H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000416767.4_Missense_Mutation_p.D1470H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.D1470H	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1470					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTACAACTTTGACAACCTTGG	0.587000													21	61					0	0	0.002299	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169684718	169684718	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:169684718C>T	ENST00000444448.2	+	6	724	c.248C>T	c.(247-249)gCg>gTg	p.A83V	NOSTRIN_ENST00000421711.2_Missense_Mutation_p.A55V|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.A5V|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.A83V|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.A5V|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.A83V|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.A55V			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	83					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AAATCCACAGCGGACCTGCAT	0.463000													14	48					0	0	0.003163	0	0
NKTR	4820	broad.mit.edu	37	3	42680982	42680982	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:42680982G>C	ENST00000232978.8	+	13	3974	c.3786G>C	c.(3784-3786)ttG>ttC	p.L1262F	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1262					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CACAAGGCTTGAGAATAGAAA	0.453000													27	42					0	0	0.004656	0	0
CACNG4	27092	broad.mit.edu	37	17	65026887	65026887	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:65026887G>A	ENST00000262138.3	+	4	753	c.751G>A	c.(751-753)Gag>Aag	p.E251K		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	251					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			AAGGTCCACCGAGGCCTCGCC	0.632000													24	58					0	0	0.003330	0	0
ZNF572	137209	broad.mit.edu	37	8	125989717	125989717	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr8:125989717C>T	ENST00000319286.5	+	3	1361	c.1207C>T	c.(1207-1209)Cag>Tag	p.Q403*		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CATTAGACATCAGAGAACACA	0.423000										HNSCC(60;0.17)			10	56					0	0	0.006214	0	0
SVEP1	79987	broad.mit.edu	37	9	113169862	113169862	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr9:113169862G>A	ENST00000401783.2	-	38	8354	c.8018C>T	c.(8017-8019)tCa>tTa	p.S2673L	SVEP1_ENST00000374469.1_Missense_Mutation_p.S2650L|SVEP1_ENST00000297826.5_Missense_Mutation_p.S599L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2673	Sushi 21.				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						CAGAAAGTTTGATGAATGTGT	0.443000													55	167					0	0	0.003610	0	0
ALKBH3	221120	broad.mit.edu	37	11	43911373	43911373	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:43911373G>C	ENST00000302708.4	+	6	776	c.365G>C	c.(364-366)aGa>aCa	p.R122T	ALKBH3_ENST00000378840.4_Missense_Mutation_p.R121T|ALKBH3_ENST00000532410.1_3'UTR	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	122					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	ACTGGCATCAGAGAGGGTAAG	0.478000								Direct reversal of damage					11	31					0	0	0.010729	0	0
OR10G4	390264	broad.mit.edu	37	11	123886938	123886938	+	Silent	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:123886938C>A	ENST00000320891.4	+	1	657	c.657C>A	c.(655-657)tcC>tcA	p.S219S		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		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;0.0401)		CCTATGTGTCCATCGTCTGTT	0.542000													36	60					5.8336e-16	6.36393e-16	0.003271	1	0
LIMK1	3984	broad.mit.edu	37	7	73521420	73521420	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr7:73521420C>G	ENST00000418310.1	+	8	1154	c.1052C>G	c.(1051-1053)tCt>tGt	p.S351C	LIMK1_ENST00000336180.2_Missense_Mutation_p.S321C|LIMK1_ENST00000538333.3_Missense_Mutation_p.S287C			P53667	LIMK1_HUMAN	LIM domain kinase 1	321	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				CTGGGTCGCTCTGAGTCCCTC	0.697000													3	18					0	0	0.004672	0	0
MCL1	4170	broad.mit.edu	37	1	150551469	150551469	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:150551469C>T	ENST00000369026.2	-	1	597	c.538G>A	c.(538-540)Gag>Aag	p.E180K	MCL1_ENST00000307940.3_Missense_Mutation_p.E180K	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 (BCL2-related)	180					anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GAGATAATCTCCAGCGACTGC	0.627000													25	59					0	0	0.003954	0	0
ADD2	119	broad.mit.edu	37	2	70900406	70900406	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:70900406G>A	ENST00000355733.3	-	15	2238	c.1794C>T	c.(1792-1794)ttC>ttT	p.F598F	ADD2_ENST00000407644.2_Intron|ADD2_ENST00000264436.3_Intron	NM_017488.3	NP_059522.1	P35612	ADDB_HUMAN	adducin 2 (beta)	0					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						GGGCAACGCTGAAGAACTCGC	0.542000													12	43					0	0	0.001368	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627818	43627818	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr9:43627818G>A	ENST00000332857.6	-	4	897	c.869C>T	c.(868-870)tCg>tTg	p.S290L	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		AAAGGCGCACGAGGTTCTGGC	0.552000													83	82					0	0	0.003610	0	0
TMEM45B	120224	broad.mit.edu	37	11	129724648	129724648	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:129724648C>G	ENST00000281441.3	+	3	410	c.322C>G	c.(322-324)Ctg>Gtg	p.L108V	TMEM45B_ENST00000524567.1_Missense_Mutation_p.L108V	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN	transmembrane protein 45B	108						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		GCTCACCTATCTGGTCAGCCA	0.483000													29	40					0	0	0.009535	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084205	26084205	+	RNA	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr20:26084205C>G	ENST00000478176.1	-	0	252					NR_003678.1																						TCTATTAACTCTTCCTTTGAA	0.393000													12	23					0	0	0.010729	0	0
MALAT1	378938	broad.mit.edu	37	11	65273081	65273081	+	RNA	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:65273081G>A	ENST00000534336.1	+	0	7849					NR_002819.2																						CCCTCACCTCGATGCAGCCAG	0.507000													23	87					0	0	0.012319	0	0
IL10RA	3587	broad.mit.edu	37	11	117860224	117860224	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:117860224G>A	ENST00000227752.3	+	3	376	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	IL10RA_ENST00000545409.1_Intron|IL10RA_ENST00000541785.1_Missense_Mutation_p.V66M|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	86						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CCTTACCGCAGTGACCTTGGA	0.577000													28	37					0	0	0.006320	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101572517	101572517	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:101572517G>A	ENST00000326172.5	+	5	1262	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.E283K|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.E261K	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	383	Required for transcriptional activity (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CAGCGCCTGTGAGGCCATGGT	0.493000													21	124					0	0	0.002780	0	0
RRP1B	23076	broad.mit.edu	37	21	45104516	45104516	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr21:45104516C>G	ENST00000340648.4	+	10	1091	c.974C>G	c.(973-975)tCc>tGc	p.S325C		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	325					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		AAGCGCCTCTCCAAACTCATC	0.488000													4	44					0	0	0.009096	0	0
S100A16	140576	broad.mit.edu	37	1	153580541	153580541	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:153580541G>C	ENST00000368704.1	-	2	272	c.87C>G	c.(85-87)gtC>gtG	p.V29V	S100A16_ENST00000368705.2_Silent_p.V29V|S100A16_ENST00000474991.1_5'UTR|S100A16_ENST00000368706.4_Silent_p.V29V|S100A16_ENST00000368703.2_Silent_p.V29V			Q96FQ6	S10AG_HUMAN	S100 calcium binding protein A16	29	EF-hand 1.					cytosol|nucleolus	calcium ion binding|protein homodimerization activity			breast(1)|large_intestine(1)|prostate(1)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCTTGTTCTTGACCAGGCTGT	0.532000													13	46					0	0	0.003163	0	0
KIAA1407	57577	broad.mit.edu	37	3	113753906	113753906	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:113753906C>G	ENST00000295878.3	-	6	830	c.684G>C	c.(682-684)caG>caC	p.Q228H	KIAA1407_ENST00000545063.1_Missense_Mutation_p.Q59H	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	228										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCACCAGACACTGAGCCTCCA	0.448000													21	120					0	0	0.010504	0	0
NACA	4666	broad.mit.edu	37	12	57110522	57110522	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:57110522C>G	ENST00000454682.1	-	3	5073	c.4792G>C	c.(4792-4794)Gag>Cag	p.E1598Q	NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						ATGAGGAGCTCTTTGGGGGAT	0.597000			T	BCL6	NHL								5	27					0	0	0.001168	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33566371	33566371	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:33566371G>A	ENST00000321505.4	+	2	2121	c.1941G>A	c.(1939-1941)ctG>ctA	p.L647L	KIAA1549L_ENST00000265654.5_Silent_p.L653L|KIAA1549L_ENST00000389726.3_Silent_p.L653L					KIAA1549-like																		CATTGTTTCTGAGGAAATCAA	0.512000													8	17					0	0	0.003080	0	0
MALAT1	378938	broad.mit.edu	37	11	65272679	65272679	+	RNA	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:65272679G>A	ENST00000534336.1	+	0	7447					NR_002819.2																						TAAAGGCACCGAAGGCTTAAA	0.502000													14	40					0	0	0.001855	0	0
PLEKHO2	80301	broad.mit.edu	37	15	65152104	65152104	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:65152104C>G	ENST00000323544.4	+	4	419	c.291C>G	c.(289-291)atC>atG	p.I97M	AC069368.3_ENST00000437723.1_Missense_Mutation_p.I97M	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	97	PH.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCAGCGACATCAAATTCCAGG	0.488000													37	157					0	0	0.008740	0	0
UNC119	9094	broad.mit.edu	37	17	26879514	26879514	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:26879514G>A	ENST00000301032.4	-	1	135	c.62C>T	c.(61-63)tCg>tTg	p.S21L	UNC119_ENST00000335765.4_Missense_Mutation_p.S21L	NM_054035.2	NP_473376.1	Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)	21					phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction				breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					GCTCTGGCCCGAGGGCCCCGG	0.761000													3	9					0	0	0.004672	0	0
ZNF70	7621	broad.mit.edu	37	22	24086061	24086061	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr22:24086061G>A	ENST00000341976.3	-	2	1727	c.1267C>T	c.(1267-1269)Ctg>Ttg	p.L423L		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	423						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TTGCCGCACAGATTGCACACG	0.547000													59	119					0	0	0.003610	0	0
SMG9	56006	broad.mit.edu	37	19	44251656	44251656	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:44251656G>T	ENST00000601170.1	-	5	840	c.526C>A	c.(526-528)Cgc>Agc	p.R176S	SMG9_ENST00000270066.6_Missense_Mutation_p.R176S			Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	176					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						TGCTTCATGCGCTCTGGGGGC	0.572000													4	60					0.00909568	0.00928322	0.009096	1	0
CFP	5199	broad.mit.edu	37	X	47485839	47485839	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chrX:47485839G>A	ENST00000247153.3	-	8	1261	c.1020C>T	c.(1018-1020)atC>atT	p.I340I	CFP_ENST00000377005.2_Silent_p.I340I|CFP_ENST00000396992.3_Silent_p.I340I	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	340	TSP type-1 5.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GCTGGCCCGGGATTTCTTGAC	0.617000													15	10					0	0	0.004007	0	0
BTBD1	53339	broad.mit.edu	37	15	83687528	83687528	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:83687528G>A	ENST00000379403.2	-	6	1132	c.1133C>T	c.(1132-1134)tCa>tTa	p.S378L	RP11-382A20.5_ENST00000566841.1_RNA|BTBD1_ENST00000261721.4_Silent_p.F407F|RP11-382A20.7_ENST00000570202.1_RNA			Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	0						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		ACATGACCCTGAATGTGTTAG	0.418000													13	48					0	0	0.002450	0	0
TTL	150465	broad.mit.edu	37	2	113258824	113258824	+	Missense_Mutation	SNP	G	G	C	rs2943625		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:113258824G>C	ENST00000233336.5	+	4	702	c.511G>C	c.(511-513)Gat>Cat	p.D171H		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	171	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		AGAGCTTCTCGATTTCATAGA	0.458000			T	ETV6	ALL								9	50					0	0	0.010729	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22850972	22850972	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:22850972C>T	ENST00000283645.4	+	11	1364	c.1234C>T	c.(1234-1236)Ctg>Ttg	p.L412L	TUBGCP5_ENST00000453949.2_Silent_p.L412L|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	412					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GCTCAAGGTTCTGCACAAAGT	0.448000													21	43					0	0	0.002299	0	0
LIN54	132660	broad.mit.edu	37	4	83858440	83858440	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr4:83858440G>A	ENST00000340417.3	-	9	1921	c.1544C>T	c.(1543-1545)tCa>tTa	p.S515L	LIN54_ENST00000510557.1_Missense_Mutation_p.S294L|LIN54_ENST00000506560.1_Missense_Mutation_p.S426L|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000395283.2_Missense_Mutation_p.S426L|LIN54_ENST00000446851.2_Missense_Mutation_p.S294L|LIN54_ENST00000442461.2_Missense_Mutation_p.S294L|LIN54_ENST00000505397.1_Missense_Mutation_p.S515L	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	515					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				GGCCGACTCTGATGGGATTAT	0.289000													13	54					0	0	0.001368	0	0
RFPL2	10739	broad.mit.edu	37	22	32587230	32587230	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr22:32587230C>T	ENST00000400236.3	-	5	1601	c.396G>A	c.(394-396)gaG>gaA	p.E132E	RFPL2_ENST00000248983.4_Silent_p.E132E|RFPL2_ENST00000248980.4_Silent_p.E161E|RFPL2_ENST00000400237.1_Silent_p.E222E|RFPL2_ENST00000489846.1_5'UTR	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	222							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CGTCAAATCTCTCGGCAAGGT	0.582000													8	95					0	0	0.003080	0	0
SPAG4	6676	broad.mit.edu	37	20	34206846	34206846	+	Splice_Site	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr20:34206846G>C	ENST00000374273.3	+	8	831	c.717_splice	c.e8-1	p.R240_splice		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	240					spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TCCTTGCAGAGAGTGGCCAAG	0.592000													14	57					0	0	0.002450	0	0
SSPN	8082	broad.mit.edu	37	12	26377309	26377309	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:26377309G>C	ENST00000242729.2	+	2	540	c.363G>C	c.(361-363)atG>atC	p.M121I	SSPN_ENST00000422622.2_Missense_Mutation_p.M18I|RP11-283G6.4_ENST00000540392.1_RNA|SSPN_ENST00000535504.1_Missense_Mutation_p.M121I|SSPN_ENST00000540266.1_Missense_Mutation_p.M18I	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	121					cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					AATTTTCTATGAAAGTAAGTT	0.373000													45	152					0	0	0.010771	0	0
YTHDC2	64848	broad.mit.edu	37	5	112851047	112851047	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:112851047C>T	ENST00000161863.4	+	2	479	c.266C>T	c.(265-267)tCt>tTt	p.S89F	YTHDC2_ENST00000515883.1_Missense_Mutation_p.S89F	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	89	R3H.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GGTTTGGTCTCTAAAAGTAAA	0.333000													15	63					0	0	0.003163	0	0
HGSNAT	138050	broad.mit.edu	37	8	43048965	43048965	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr8:43048965G>A	ENST00000458501.2	+	14	1527	c.1527G>A	c.(1525-1527)gtG>gtA	p.V509V	HGSNAT_ENST00000379644.4_Silent_p.V481V|HGSNAT_ENST00000521576.1_Silent_p.V198V|HGSNAT_ENST00000297798.7_Silent_p.V213V			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	509			V -> L (does not have any clinical significance; no loss of enzymatic activity).		lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			ACTCCATCGTGATGGCCTTTT	0.403000													24	62					0	0	0.003330	0	0
DDI2	84301	broad.mit.edu	37	1	15983119	15983119	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:15983119G>A	ENST00000480945.1	+	9	1362	c.1191G>A	c.(1189-1191)caG>caA	p.Q397Q		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	397					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CAGAGCGTCAGAAGCCATGAT	0.458000													39	93					0	0	0.007835	0	0
PIWIL2	55124	broad.mit.edu	37	8	22210625	22210625	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr8:22210625C>T	ENST00000356766.6	+	21	2705	c.2557C>T	c.(2557-2559)Cag>Tag	p.Q853*	PIWIL2_ENST00000521356.1_Nonsense_Mutation_p.Q853*|PIWIL2_ENST00000454009.2_Nonsense_Mutation_p.Q853*	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	853	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GTTTGTAGTTCAGAAGAAAAT	0.413000													33	68					0	0	0.002836	0	0
FRAS1	80144	broad.mit.edu	37	4	79455676	79455676	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr4:79455676C>T	ENST00000264895.6	+	71	11439	c.10999C>T	c.(10999-11001)Cag>Tag	p.Q3667*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3662					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CACTGAATTTCAGCTCTGCAA	0.418000													28	120					0	0	0.009535	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12918895	12918895	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:12918895G>C	ENST00000240189.2	+	2	118	c.31G>C	c.(31-33)Gag>Cag	p.E11Q		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	11										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)		GAGACTACTGGAGCTGGCGGG	0.557000													35	148					0	0	0.004289	0	0
NRROS	375387	broad.mit.edu	37	3	196386869	196386869	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:196386869G>A	ENST00000328557.4	+	3	558	c.355G>A	c.(355-357)Gag>Aag	p.E119K		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		CTGCCTCTCAGAGAACTACGA	0.672000													7	51					0	0	0.001984	0	0
STK11	6794	broad.mit.edu	37	19	1221279	1221279	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:1221279G>A	ENST00000326873.7	+	6	1975	c.802G>A	c.(802-804)Ggg>Agg	p.G268R		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	268	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)|p.Y246fs*3(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGAACATCGGGAAGGGGAG	0.607000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			5	8					0	0	0.000602	0	0
TMEM147	10430	broad.mit.edu	37	19	36037925	36037925	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:36037925C>T	ENST00000392204.2	+	4	604	c.276C>T	c.(274-276)atC>atT	p.I92I	TMEM147_ENST00000392205.1_Silent_p.I141I|TMEM147_ENST00000222284.5_Silent_p.I141I	NM_001242597.1	NP_001229526.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	141						endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACTCCAACATCAGTCTGGTAG	0.567000													19	93					0	0	0.007413	0	0
MPL	4352	broad.mit.edu	37	1	43812513	43812513	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:43812513C>G	ENST00000372470.3	+	8	1258	c.1216C>G	c.(1216-1218)Ctg>Gtg	p.L406V	MPL_ENST00000413998.2_Missense_Mutation_p.L406V	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	406	Fibronectin type-III 2.				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	p.L406V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAGTGGGCATCTGGAATTGGA	0.567000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						17	80					0	0	0.004007	0	0
OR2C3	81472	broad.mit.edu	37	1	247694956	247694956	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:247694956C>G	ENST00000366487.3	-	2	1219	c.858G>C	c.(856-858)ctG>ctC	p.L286L	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TAAGTGGGTTCAGCGCAGGAG	0.547000													7	93					0	0	0.003080	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38162181	38162181	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr8:38162181G>A	ENST00000317025.8	-	14	3052	c.2535C>T	c.(2533-2535)ctC>ctT	p.L845L	WHSC1L1_ENST00000527502.1_Silent_p.L845L|WHSC1L1_ENST00000433384.2_Silent_p.L845L	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	845					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TACTACAGATGAGAATGTAGG	0.438000			T	NUP98	AML								17	94					0	0	0.004990	0	0
LIMK1	3984	broad.mit.edu	37	7	73520530	73520530	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr7:73520530C>T	ENST00000418310.1	+	7	1030	c.928C>T	c.(928-930)Ccc>Tcc	p.P310S	LIMK1_ENST00000336180.2_Missense_Mutation_p.P280S|LIMK1_ENST00000538333.3_Missense_Mutation_p.P246S			P53667	LIMK1_HUMAN	LIM domain kinase 1	280					actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				GGCTTATACTCCCAGCGGGGA	0.657000													36	176					0	0	0.003755	0	0
UNC5D	137970	broad.mit.edu	37	8	35616848	35616848	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr8:35616848C>G	ENST00000287272.2	+	13	1987	c.1967C>G	c.(1966-1968)tCa>tGa	p.S656*	UNC5D_ENST00000449677.1_Nonsense_Mutation_p.S301*|UNC5D_ENST00000420357.1_Nonsense_Mutation_p.S658*|UNC5D_ENST00000416672.1_Nonsense_Mutation_p.S730*|UNC5D_ENST00000453357.2_Nonsense_Mutation_p.S720*|UNC5D_ENST00000404895.2_Nonsense_Mutation_p.S725*			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	725					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GAAGTGGTTTCAGATGAAAGG	0.378000													22	68					0	0	0.010504	0	0
RTEL1	51750	broad.mit.edu	37	20	62298846	62298846	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr20:62298846G>C	ENST00000318100.4	+	8	1466	c.639G>C	c.(637-639)cgG>cgC	p.R213R	RTEL1_ENST00000508582.2_Silent_p.R237R|RTEL1_ENST00000370018.3_Silent_p.R213R|RTEL1_ENST00000360203.5_Silent_p.R213R|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.R213R			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	213	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			ACCTGTCCCGGAACCTGAAGC	0.572000													61	145					0	0	0.003610	0	0
SNAP91	9892	broad.mit.edu	37	6	84311158	84311158	+	Splice_Site	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr6:84311158C>G	ENST00000428679.2	-	16	1750		c.e16-1		SNAP91_ENST00000195649.6_Splice_Site|SNAP91_ENST00000369694.2_Splice_Site|SNAP91_ENST00000521743.1_Splice_Site|SNAP91_ENST00000521485.1_Splice_Site|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000520302.1_Splice_Site|SNAP91_ENST00000439399.2_Splice_Site|SNAP91_ENST00000520213.1_Intron			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa						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)		GCCAAAGAATCTATATTTCAC	0.413000													5	40					0	0	0.000602	0	0
ABAT	18	broad.mit.edu	37	16	8873373	8873373	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:8873373G>A	ENST00000396600.2	+	15	2245	c.1307G>A	c.(1306-1308)cGa>cAa	p.R436Q	ABAT_ENST00000569156.1_Missense_Mutation_p.R436Q|ABAT_ENST00000425191.2_Missense_Mutation_p.R436Q|ABAT_ENST00000268251.8_Missense_Mutation_p.R436Q|ABAT_ENST00000567812.1_Missense_Mutation_p.R451Q	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	436					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GTGAGAGGACGAGGCACCTTT	0.532000													8	51					0	0	0.004482	0	0
CELSR2	1952	broad.mit.edu	37	1	109795615	109795615	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:109795615G>A	ENST00000271332.3	+	1	2975	c.2914G>A	c.(2914-2916)Gac>Aac	p.D972N		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	972	Cadherin 8.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTTTCAGCTGGACATCTTCTC	0.592000													28	76					0	0	0.006320	0	0
MCM2	4171	broad.mit.edu	37	3	127327234	127327234	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:127327234C>T	ENST00000265056.7	+	7	1355	c.1111C>T	c.(1111-1113)Cag>Tag	p.Q371*		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	371					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						GACCATCTATCAGAACTACCA	0.572000													68	229					0	0	0.003610	0	0
ZNF584	201514	broad.mit.edu	37	19	58921347	58921347	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:58921347G>C	ENST00000306910.4	+	2	581	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	ZNF584_ENST00000599238.1_Intron|ZNF584_ENST00000596921.1_Intron|ZNF584_ENST00000322834.7_Missense_Mutation_p.E12Q|ZNF584_ENST00000596281.1_Intron|ZNF584_ENST00000593920.1_Intron	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		GGTGATGTTTGAGGATGTGAC	0.498000													23	81					0	0	0.003330	0	0
CEP104	9731	broad.mit.edu	37	1	3756183	3756183	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:3756183C>G	ENST00000378230.3	-	7	1048	c.724G>C	c.(724-726)Gat>Cat	p.D242H		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	242						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TTTTGCAAATCAGCAATGGCT	0.348000													14	89					0	0	0.002450	0	0
ZNF816	125893	broad.mit.edu	37	19	53454424	53454424	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:53454424G>A	ENST00000357666.4	-	5	904	c.604C>T	c.(604-606)Cat>Tat	p.H202Y	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.H202Y	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	202					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						TTAGAAATATGAGTTTTGAGC	0.368000													19	66					0	0	0.006122	0	0
SLC22A15	55356	broad.mit.edu	37	1	116577934	116577934	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:116577934G>A	ENST00000369503.4	+	7	1201	c.1071G>A	c.(1069-1071)ttG>ttA	p.L357L	SLC22A15_ENST00000481127.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	357					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GTATCTACTTGATTAACCAAA	0.438000													12	28					0	0	0.010729	0	0
PCMTD2	55251	broad.mit.edu	37	20	62904683	62904683	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr20:62904683G>C	ENST00000308824.6	+	6	943	c.816G>C	c.(814-816)aaG>aaC	p.K272N	PCMTD2_ENST00000299468.7_Intron|PCMTD2_ENST00000266078.6_Missense_Mutation_p.K48N|PCMTD2_ENST00000369758.3_Missense_Mutation_p.K245N	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	272						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACGGACTAAAGAACACCCCCA	0.493000													27	87					0	0	0.005443	0	0
OR6C6	283365	broad.mit.edu	37	12	55688558	55688558	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:55688558G>A	ENST00000358433.2	-	1	458	c.459C>T	c.(457-459)atC>atT	p.I153I		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGGGAAATATGATTAAGAATC	0.418000													8	49					0	0	0.003080	0	0
CDH24	64403	broad.mit.edu	37	14	23523752	23523752	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:23523752G>C	ENST00000397359.3	-	5	1006	c.747C>G	c.(745-747)ctC>ctG	p.L249L	CDH24_ENST00000267383.5_Silent_p.L249L|CDH24_ENST00000487137.2_Silent_p.L249L|CDH24_ENST00000554034.1_Silent_p.L249L	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	249	Cadherin 2.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TGACATCGCTGAGCGTGACAG	0.607000											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	27					0	0	0.001368	0	0
TRIP11	9321	broad.mit.edu	37	14	92471517	92471517	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:92471517C>G	ENST00000267622.4	-	11	3176	c.2803G>C	c.(2803-2805)Gag>Cag	p.E935Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	935					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTCTTTTGCTCTTGTAAAGAC	0.368000			T	PDGFRB	AML								15	107					0	0	0.004007	0	0
MALAT1	378938	broad.mit.edu	37	11	65272108	65272108	+	RNA	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:65272108G>A	ENST00000534336.1	+	0	6876					NR_002819.2																						GGAGGGGACTGAAGCCTTTAG	0.373000													8	23					0	0	0.003080	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1797130	1797130	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:1797130C>T	ENST00000250894.4	+	6	1002	c.845C>T	c.(844-846)tCg>tTg	p.S282L	MAPK8IP3_ENST00000568271.1_3'UTR|MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.S282L	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	282					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TCCGTGCCCTCGGCCGCCGTC	0.672000													30	54					0	0	0.010818	0	0
MOGS	7841	broad.mit.edu	37	2	74690021	74690021	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:74690021C>T	ENST00000233616.4	-	4	1057	c.895G>A	c.(895-897)Ggc>Agc	p.G299S	MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.G193S|MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	299					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	p.G299C(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CCTGGCAAGCCGAGGTAGCGT	0.582000													51	134					0	0	0.003610	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530308	140530308	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:140530308A>T	ENST00000231136.1	+	1	470	c.470A>T	c.(469-471)cAc>cTc	p.H157L	PCDHB6_ENST00000543635.1_Missense_Mutation_p.H21L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		157	Cadherin 2.				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)			AAAATGGCACACGATTTAGAC	0.483000													43	156					0	0	0.009718	0	0
TBC1D31	93594	broad.mit.edu	37	8	124109599	124109599	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr8:124109599G>C	ENST00000287380.1	+	6	839	c.749G>C	c.(748-750)aGa>aCa	p.R250T	TBC1D31_ENST00000378080.2_Missense_Mutation_p.R145T|TBC1D31_ENST00000522420.1_Missense_Mutation_p.R145T|TBC1D31_ENST00000521676.1_Missense_Mutation_p.R145T|TBC1D31_ENST00000327098.5_Missense_Mutation_p.R250T|TBC1D31_ENST00000309336.3_Missense_Mutation_p.R250T	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		CAGCTCTTTAGAATTATCCAG	0.408000													13	50					0	0	0.001855	0	0
SLC1A3	6507	broad.mit.edu	37	5	36686317	36686317	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:36686317G>A	ENST00000265113.4	+	10	2051	c.1575G>A	c.(1573-1575)ctG>ctA	p.L525L	SLC1A3_ENST00000381918.3_Silent_p.L480L|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	525					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	CATATCAACTGATTGCACAGG	0.393000													27	185					0	0	0.006320	0	0
CMYA5	202333	broad.mit.edu	37	5	79029812	79029812	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:79029812C>T	ENST00000446378.2	+	2	5255	c.5224C>T	c.(5224-5226)Cag>Tag	p.Q1742*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1742						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)		AGAAGAATTTCAGCCATTTAC	0.423000													11	45					0	0	0.010729	0	0
TRIP11	9321	broad.mit.edu	37	14	92469841	92469841	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:92469841C>T	ENST00000267622.4	-	11	4852	c.4479G>A	c.(4477-4479)ctG>ctA	p.L1493L		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1493					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTTTTCTCGCAGCATCATAG	0.378000			T	PDGFRB	AML								20	92					0	0	0.010504	0	0
DNAH17	8632	broad.mit.edu	37	17	76455962	76455962	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:76455962G>A	ENST00000389840.5	-	60	9639	c.9515C>T	c.(9514-9516)gCg>gTg	p.A3172V	DNAH17_ENST00000585328.1_Missense_Mutation_p.A3181V|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GATCTTGGCCGCCTTCCAGCT	0.592000													41	34					0	0	0.007835	0	0
MROH2B	133558	broad.mit.edu	37	5	41057214	41057214	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:41057214G>C	ENST00000399564.4	-	9	1366	c.916C>G	c.(916-918)Cta>Gta	p.L306V	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GTCCTACCTAGAATGAGAAAA	0.413000													10	44					0	0	0.006214	0	0
ATP13A4	84239	broad.mit.edu	37	3	193185208	193185208	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:193185208C>G	ENST00000342695.4	-	10	1333	c.1011G>C	c.(1009-1011)caG>caC	p.Q337H	ATP13A4_ENST00000392443.3_Missense_Mutation_p.Q337H|ATP13A4_ENST00000295548.3_Missense_Mutation_p.Q337H	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	337					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)		CCGCTTCACTCTGTGTTTTCC	0.502000													19	163					0	0	0.010504	0	0
RASD1	51655	broad.mit.edu	37	17	17398763	17398763	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:17398763G>A	ENST00000225688.3	-	2	733	c.522C>T	c.(520-522)ttC>ttT	p.F174F	RASD1_ENST00000579152.1_3'UTR	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	174					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						CCGAGATCTCGAAGTAGGCGC	0.647000													5	9					0	0	0.001168	0	0
FCAR	2204	broad.mit.edu	37	19	55401049	55401049	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:55401049G>C	ENST00000355524.3	+	5	694	c.684G>C	c.(682-684)ttG>ttC	p.L228F	FCAR_ENST00000391724.3_Missense_Mutation_p.L194F|FCAR_ENST00000391725.3_Missense_Mutation_p.L206F|FCAR_ENST00000391723.3_Missense_Mutation_p.D192H|FCAR_ENST00000353758.4_Missense_Mutation_p.L119F|FCAR_ENST00000391726.3_Missense_Mutation_p.L120F|FCAR_ENST00000359272.4_Missense_Mutation_p.L216F|FCAR_ENST00000345937.4_Missense_Mutation_p.L132F|FCAR_ENST00000482092.2_3'UTR	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	228					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)		CGCAGAACTTGATCCGCATGG	0.537000													108	317					0	0	0.003610	0	0
PHF23	79142	broad.mit.edu	37	17	7139717	7139717	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:7139717G>A	ENST00000320316.3	-	4	755	c.529C>T	c.(529-531)Cct>Tct	p.P177S	PHF23_ENST00000576955.1_Missense_Mutation_p.P47S|PHF23_ENST00000454255.2_Missense_Mutation_p.P173S|PHF23_ENST00000571362.1_Missense_Mutation_p.P110S	NM_024297.2	NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	177							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						TTTCGAGGAGGATGGGAGAGG	0.632000													21	49					0	0	0.010504	0	0
KIF27	55582	broad.mit.edu	37	9	86518439	86518439	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr9:86518439G>C	ENST00000297814.2	-	4	1137	c.994C>G	c.(994-996)Ctc>Gtc	p.L332V	KIF27_ENST00000413982.1_Missense_Mutation_p.L332V|KIF27_ENST00000334204.2_Missense_Mutation_p.L332V	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	332					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						GCATATTTGAGAGAATTTAAG	0.433000													22	80					0	0	0.002299	0	0
CCDC9	26093	broad.mit.edu	37	19	47763996	47763996	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:47763996G>A	ENST00000221922.6	+	5	584	c.362G>A	c.(361-363)cGa>cAa	p.R121Q		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	121	Gly-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GAGCAGCCTCGAGGAGGAGGA	0.716000													12	24					0	0	0.010729	0	0
ZNF784	147808	broad.mit.edu	37	19	56133815	56133815	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:56133815C>T	ENST00000325351.4	-	2	313	c.274G>A	c.(274-276)Gag>Aag	p.E92K	ZNF784_ENST00000591479.1_3'UTR	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CCGCCTCCCTCGGCCCCAGCC	0.711000													5	18					0	0	0.001168	0	0
STAT2	6773	broad.mit.edu	37	12	56740694	56740694	+	Silent	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:56740694C>A	ENST00000314128.4	-	20	1793	c.1770G>T	c.(1768-1770)ctG>ctT	p.L590L	STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Silent_p.L586L			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	590	SH2.				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TGGTCTTCTTCAGCAGCCGGC	0.607000													21	95					6.33239e-15	6.87963e-15	0.010504	1	0
LRBA	987	broad.mit.edu	37	4	151773393	151773393	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr4:151773393G>A	ENST00000535741.1	-	23	3942	c.3469C>T	c.(3469-3471)Caa>Taa	p.Q1157*	LRBA_ENST00000357115.3_Nonsense_Mutation_p.Q1157*|LRBA_ENST00000507224.1_Nonsense_Mutation_p.Q1157*|LRBA_ENST00000510413.1_Nonsense_Mutation_p.Q1157*			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1157						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTTCCTTCTTGAAATATTAAT	0.383000													21	66					0	0	0.008871	0	0
DSTYK	25778	broad.mit.edu	37	1	205138659	205138659	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:205138659T>C	ENST00000367162.3	-	3	986	c.956A>G	c.(955-957)aAc>aGc	p.N319S	DSTYK_ENST00000367160.4_Missense_Mutation_p.N319S|DSTYK_ENST00000367161.3_Missense_Mutation_p.N319S	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	319						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						AGCCCCACAGTTCCAGTGACT	0.498000													10	52					0	0	0.008291	0	0
NACA	4666	broad.mit.edu	37	12	57106570	57106570	+	Splice_Site	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:57106570C>T	ENST00000454682.1	-	8	6503	c.6222_splice	c.e8+1	p.M2074_splice	NACA_ENST00000393891.4_Splice_Site_p.M211_splice|NACA_ENST00000550952.1_Splice_Site_p.M921_splice|NACA_ENST00000552540.1_Splice_Site_p.M211_splice|NACA_ENST00000548563.1_Splice_Site_p.M132_splice|NACA_ENST00000546392.1_Splice_Site_p.M211_splice|NACA_ENST00000356769.3_Splice_Site_p.M211_splice	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	211					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GAACACTTACCATAATCGCAT	0.403000			T	BCL6	NHL								17	79					0	0	0.006122	0	0
TRPM1	4308	broad.mit.edu	37	15	31338418	31338418	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:31338418G>C	ENST00000542188.1	-	15	2147	c.1834C>G	c.(1834-1836)Ctg>Gtg	p.L612V	TRPM1_ENST00000256552.6_Missense_Mutation_p.L595V|TRPM1_ENST00000397795.2_Missense_Mutation_p.L573V	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	573					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCCATTCCCAGAAGTTTAAGA	0.313000													11	25					0	0	0.008291	0	0
C6orf222	389384	broad.mit.edu	37	6	36285134	36285134	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr6:36285134C>T	ENST00000437635.2	-	12	2135	c.1958G>A	c.(1957-1959)tGa>tAa	p.*653*		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	0										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						ACACAGCTTTCAATCTGGACT	0.443000													19	37					0	0	0.006122	0	0
ERN1	2081	broad.mit.edu	37	17	62121446	62121446	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:62121446G>A	ENST00000433197.2	-	22	2931	c.2836C>T	c.(2836-2838)Cgg>Tgg	p.R946W		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	946	KEN.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TCCATGGCCCGGTAGGTGTGT	0.657000													5	133					0	0	0.001168	0	0
FNIP2	57600	broad.mit.edu	37	4	159791564	159791564	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr4:159791564C>T	ENST00000264433.6	+	14	2967	c.2892C>T	c.(2890-2892)acC>acT	p.T964T	FNIP2_ENST00000379346.3_Silent_p.T987T	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	964					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	p.T964T(1)|p.T290T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TTCATGGGACCGGCAGTGATG	0.562000													16	31					0	0	0.004007	0	0
CLTCL1	8218	broad.mit.edu	37	22	19207486	19207486	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr22:19207486C>T	ENST00000263200.10	-	18	2899	c.2827G>A	c.(2827-2829)Gag>Aag	p.E943K	CLTCL1_ENST00000427926.1_Missense_Mutation_p.E943K|CLTCL1_ENST00000353891.5_Missense_Mutation_p.E943K	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	943	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TAGCGGGCCTCGCTTTTGAAC	0.552000			T	?	ALCL								38	130					0	0	0.005524	0	0
FAM111A	63901	broad.mit.edu	37	11	58919875	58919875	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:58919875A>G	ENST00000528737.1	+	5	3552	c.734A>G	c.(733-735)aAc>aGc	p.N245S	FAM111A_ENST00000361723.3_Missense_Mutation_p.N245S|FAM111A_ENST00000420244.1_Missense_Mutation_p.N245S|FAM111A_ENST00000533703.1_Missense_Mutation_p.N245S|FAM111A_ENST00000531147.1_Missense_Mutation_p.N245S			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	245					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CTCATTGAAAACAATGACACC	0.418000													15	73					0	0	0.002450	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994519	45994519	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr21:45994519C>G	ENST00000400374.3	+	1	914	c.884C>G	c.(883-885)tCt>tGt	p.S295C	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	295	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GGGGCTTCCTCTCTGTGCTGC	0.637000													13	181					0	0	0.001368	0	0
MALAT1	378938	broad.mit.edu	37	11	65272931	65272931	+	RNA	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:65272931G>A	ENST00000534336.1	+	0	7699					NR_002819.2																						AGCGGTGCTTGAAGGGGAGGG	0.468000													14	77					0	0	0.007413	0	0
SUPT6H	6830	broad.mit.edu	37	17	27001375	27001375	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:27001375G>C	ENST00000314616.6	+	3	467	c.184G>C	c.(184-186)Gat>Cat	p.D62H	SUPT6H_ENST00000347486.4_Missense_Mutation_p.D62H	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	62	Asp/Glu-rich.			DDDEDEGEEDEGS -> ATAPGHPKLSEGR (in Ref. 1; AAC50821).	chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CAATGACGATGATGATGAAGA	0.473000													10	27					0	0	0.008291	0	0
TRIP11	9321	broad.mit.edu	37	14	92471562	92471562	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:92471562C>T	ENST00000267622.4	-	11	3131	c.2758G>A	c.(2758-2760)Gaa>Aaa	p.E920K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	920					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTTTGATCTTCAATTATCTTT	0.373000			T	PDGFRB	AML								24	86					0	0	0.002780	0	0
YY1	7528	broad.mit.edu	37	14	100743853	100743853	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:100743853C>T	ENST00000262238.4	+	5	1421	c.1161C>T	c.(1159-1161)ttC>ttT	p.F387F		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	387	Involved in masking transactivation domain.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				TGTGCCCCTTCGATGGTTGTA	0.458000													18	50					0	0	0.004990	0	0
DTX4	23220	broad.mit.edu	37	11	58972245	58972245	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:58972245G>A	ENST00000227451.3	+	9	1827	c.1723G>A	c.(1723-1725)Gag>Aag	p.E575K	DTX4_ENST00000532982.1_Missense_Mutation_p.E469K	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	575					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CATCTGGAATGAGGTCCACCA	0.562000													4	18					0	0	0.009096	0	0
ZNF700	90592	broad.mit.edu	37	19	12060474	12060474	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:12060474C>T	ENST00000482090.1	+	3	1999	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	ZNF700_ENST00000254321.5_Silent_p.F545F|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	545					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GTAAAGCCTTCAGATGTTGCA	0.423000													17	61					0	0	0.004007	0	0
SRCAP	10847	broad.mit.edu	37	16	30749759	30749759	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:30749759G>C	ENST00000262518.4	+	34	8783	c.8398G>C	c.(8398-8400)Gaa>Caa	p.E2800Q	SRCAP_ENST00000344771.4_Missense_Mutation_p.E2642Q|SRCAP_ENST00000395059.2_Missense_Mutation_p.E2738Q	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2800	Pro-rich.				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)			GTCAGGGCCAGAATCCTCCCC	0.652000													4	76					0	0	0.009096	0	0
TSSK6	83983	broad.mit.edu	37	19	19625897	19625897	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:19625897C>T	ENST00000360913.3	-	1	941	c.340G>A	c.(340-342)Gac>Aac	p.D114N	TSSK6_ENST00000585580.3_Missense_Mutation_p.D114N			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	114	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.D114N(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GCAAAGAGGTCGCGCGCCTGA	0.657000													22	53					0	0	0.010504	0	0
CEP250	11190	broad.mit.edu	37	20	34054880	34054880	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr20:34054880G>C	ENST00000397527.1	+	8	1302	c.582G>C	c.(580-582)atG>atC	p.M194I	CEP250_ENST00000397524.1_Missense_Mutation_p.M194I|CEP250_ENST00000342580.4_Missense_Mutation_p.M194I	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	194					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TCCTGGAAATGAAGTCAGCTA	0.527000													16	45					0	0	0.004990	0	0
SUMF2	25870	broad.mit.edu	37	7	56142396	56142396	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr7:56142396G>A	ENST00000434526.2	+	5	590	c.559G>A	c.(559-561)Gag>Aag	p.E187K	SUMF2_ENST00000342190.6_Missense_Mutation_p.E187K|SUMF2_ENST00000395436.2_Missense_Mutation_p.E172K|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000413756.1_Missense_Mutation_p.E168K|SUMF2_ENST00000275607.9_Missense_Mutation_p.E80K	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	168						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CACGGAGGAAGAGTGGGAGTT	0.567000											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	112					0	0	0.001984	0	0
CYFIP1	23191	broad.mit.edu	37	15	22935917	22935917	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:22935917G>A	ENST00000313077.7	+	9	978	c.853G>A	c.(853-855)Gat>Aat	p.D285N	CYFIP1_ENST00000560848.1_Missense_Mutation_p.D285N	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	285					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CTATAAGTTGGATGCCAAGAA	0.368000													5	26					0	0	0.001168	0	0
HERC1	8925	broad.mit.edu	37	15	63986220	63986220	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:63986220C>T	ENST00000443617.2	-	30	5704	c.5617G>A	c.(5617-5619)Gaa>Aaa	p.E1873K	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1873					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						tcttcttcttcaccgtcttct	0.393000													3	8					0	0	0.004672	0	0
HOXB7	3217	broad.mit.edu	37	17	46685395	46685395	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:46685395C>A	ENST00000239165.7	-	2	561	c.463G>T	c.(463-465)Gaa>Taa	p.E155*	HOXB7_ENST00000567101.1_5'UTR	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	155						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						TAGTGAAATTCTTTCTCCAGC	0.542000													29	90					7.26314e-15	7.88001e-15	0.007291	1	0
CIT	11113	broad.mit.edu	37	12	120241085	120241085	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:120241085G>A	ENST00000392521.2	-	10	1275	c.1220C>T	c.(1219-1221)tCa>tTa	p.S407L	CIT_ENST00000261833.7_Missense_Mutation_p.S407L	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	407	AGC-kinase C-terminal.				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)		CGAGAAGCCTGAGGGGCTCAG	0.493000													34	85					0	0	0.010818	0	0
USP9X	8239	broad.mit.edu	37	X	41000592	41000592	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chrX:41000592G>A	ENST00000324545.7	+	9	1702	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	USP9X_ENST00000378308.2_Missense_Mutation_p.E357K	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	357					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGCACTGAATGAAGTTAATAA	0.348000													10	5					0	0	0.006214	0	0
NACA	4666	broad.mit.edu	37	12	57110609	57110609	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:57110609C>G	ENST00000454682.1	-	3	4986	c.4705G>C	c.(4705-4707)Gaa>Caa	p.E1569Q	NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GCTGGGGCTTCTTTGGGGGTT	0.567000			T	BCL6	NHL								7	20					0	0	0.001984	0	0
MYH9	4627	broad.mit.edu	37	22	36691645	36691645	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr22:36691645C>T	ENST00000216181.5	-	26	3621	c.3391G>A	c.(3391-3393)Gag>Aag	p.E1131K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1131					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTCTGCTTCTCAGCTTTATTC	0.547000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				7	36					0	0	0.003163	0	0
HDHD3	81932	broad.mit.edu	37	9	116136231	116136231	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr9:116136231G>C	ENST00000238379.5	-	2	1301	c.404C>G	c.(403-405)tCc>tGc	p.S135C	HDHD3_ENST00000485934.1_5'UTR|HDHD3_ENST00000374180.3_Missense_Mutation_p.S135C	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	135							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						GTCAAAGTTGGAGATCACTGC	0.622000													43	137					0	0	0.003610	0	0
TAOK2	9344	broad.mit.edu	37	16	29994478	29994478	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:29994478C>G	ENST00000308893.4	+	12	2128	c.1085C>G	c.(1084-1086)tCc>tGc	p.S362C	TAOK2_ENST00000279394.3_Missense_Mutation_p.S362C|TAOK2_ENST00000416441.2_Missense_Mutation_p.S189C|TAOK2_ENST00000543033.1_Missense_Mutation_p.S362C	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	362	Ser-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ATCAGCGCCTCCAGCCAGAGC	0.627000													42	96					0	0	0.009718	0	0
KPRP	448834	broad.mit.edu	37	1	152732722	152732722	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:152732722C>T	ENST00000368773.1	+	2	716	c.658C>T	c.(658-660)Cag>Tag	p.Q220*	KPRP_ENST00000606109.1_Nonsense_Mutation_p.Q220*	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	220						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTTTCCCTCAGTATCGGTC	0.577000													9	138					0	0	0.010729	0	0
F11R	50848	broad.mit.edu	37	1	160970527	160970527	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:160970527G>A	ENST00000368026.6	-	4	556	c.282C>T	c.(280-282)atC>atT	p.I94I	F11R_ENST00000472573.1_5'UTR|F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Intron	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	94	Ig-like V-type 1.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			ACTTGAAGGTGATACCAGTTG	0.537000													9	46					0	0	0.004482	0	0
MUC16	94025	broad.mit.edu	37	19	9011341	9011341	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:9011341C>T	ENST00000397910.4	-	36	39095	c.38892G>A	c.(38890-38892)agG>agA	p.R12964R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12966	SEA 6.				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						AGAGACTGTTCCTGTCCAGGG	0.547000													49	150					0	0	0.003610	0	0
SPIRE2	84501	broad.mit.edu	37	16	89930015	89930015	+	Silent	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:89930015G>T	ENST00000378247.3	+	11	1750	c.1707G>T	c.(1705-1707)ggG>ggT	p.G569G	SPIRE2_ENST00000393062.2_Silent_p.G569G	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	569					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TGAAGAAGGGGAAGGTGAGGC	0.587000													12	60					3.07112e-06	3.20464e-06	0.010729	1	0
R3HDM1	23518	broad.mit.edu	37	2	136399347	136399347	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:136399347C>T	ENST00000264160.4	+	15	1831	c.1461C>T	c.(1459-1461)atC>atT	p.I487I	R3HDM1_ENST00000443537.2_Intron|R3HDM1_ENST00000409478.1_Intron|R3HDM1_ENST00000410054.1_Silent_p.I431I|R3HDM1_ENST00000409606.1_Silent_p.I487I|R3HDM1_ENST00000329971.3_Intron	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	487							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GTATTCTGATCAACCCACAAA	0.418000													14	47					0	0	0.003163	0	0
CBX7	23492	broad.mit.edu	37	22	39530549	39530549	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr22:39530549G>C	ENST00000216133.5	-	5	660	c.455C>G	c.(454-456)tCg>tGg	p.S152W	CBX7_ENST00000475962.1_Intron|CBX7_ENST00000401405.3_Intron	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	152					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					CTTCTTGCGCGAGAGCCGCAG	0.701000													6	20					0	0	0.001168	0	0
KDM5B	10765	broad.mit.edu	37	1	202725518	202725518	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:202725518C>G	ENST00000367265.3	-	10	2488	c.1324G>C	c.(1324-1326)Gat>Cat	p.D442H	KDM5B_ENST00000367264.2_Missense_Mutation_p.D478H|KDM5B_ENST00000456180.1_5'UTR	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	442					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ATTTTCCCATCTCGGACAGGA	0.418000													40	92					0	0	0.007835	0	0
LIMS2	55679	broad.mit.edu	37	2	128415128	128415128	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:128415128G>A	ENST00000409455.1	-	2	640	c.5C>T	c.(4-6)tCg>tTg	p.S2L	LIMS2_ENST00000410011.1_Missense_Mutation_p.S2L|LIMS2_ENST00000324938.5_Missense_Mutation_p.S31L|LIMS2_ENST00000355119.4_Missense_Mutation_p.S7L|LIMS2_ENST00000409808.2_Missense_Mutation_p.S2L|LIMS2_ENST00000545738.2_Missense_Mutation_p.S29L			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	7					cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CAAGGCGTCCGACATATTGCT	0.662000													24	61					0	0	0.002780	0	0
HRG	3273	broad.mit.edu	37	3	186395631	186395631	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:186395631C>T	ENST00000232003.4	+	7	1617	c.1537C>T	c.(1537-1539)Cca>Tca	p.P513S		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	513					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)		GAGTGGGTTTCCACAAGTTTC	0.363000													33	88					0	0	0.012213	0	0
OR1L3	26735	broad.mit.edu	37	9	125438072	125438072	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr9:125438072C>T	ENST00000304820.2	+	1	758	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TCTAAGAATTCTCATCGCTGT	0.468000													23	72					0	0	0.012319	0	0
CHD1L	9557	broad.mit.edu	37	1	146756150	146756150	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:146756150G>A	ENST00000369258.4	+	16	1852	c.1832G>A	c.(1831-1833)cGa>cAa	p.R611Q	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Missense_Mutation_p.R330Q|CHD1L_ENST00000431239.1_Missense_Mutation_p.R517Q|CHD1L_ENST00000369259.3_Missense_Mutation_p.R407Q	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	611					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CAAGAGGGCCGATCACTCCGA	0.348000													17	63					0	0	0.004007	0	0
C20orf194	25943	broad.mit.edu	37	20	3299010	3299010	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr20:3299010C>A	ENST00000252032.9	-	17	1461	c.1394G>T	c.(1393-1395)gGa>gTa	p.G465V	C20orf194_ENST00000453730.2_Missense_Mutation_p.G203V	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	465										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						ACCATTGCCTCCCAGTAAGTC	0.388000													25	61					3.73148e-12	4.02633e-12	0.007291	1	0
TEX35	84066	broad.mit.edu	37	1	178491564	178491564	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:178491564G>A	ENST00000319416.2	+	9	803	c.691G>A	c.(691-693)Gag>Aag	p.E231K	TEX35_ENST00000367639.1_Intron|TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000258298.2_Intron|TEX35_ENST00000367641.3_3'UTR	NM_032126.4	NP_115502.2			testis expressed 35																		gtcccagactgagggaaggtg	0.522000													5	9					0	0	0.000602	0	0
GAN	8139	broad.mit.edu	37	16	81388253	81388253	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:81388253C>G	ENST00000248272.3	+	3	688	c.526C>G	c.(526-528)Caa>Gaa	p.Q176E		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	176	BACK.				cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GCTGAGTCCTCAAAAGCTTAA	0.408000													21	50					0	0	0.010504	0	0
PIN4	5303	broad.mit.edu	37	X	71401627	71401627	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chrX:71401627G>A	ENST00000218432.5	+	1	102	c.67G>A	c.(67-69)Gct>Act	p.A23T	PIN4_ENST00000373669.2_Missense_Mutation_p.A23T|PIN4_ENST00000423432.2_Missense_Mutation_p.A23T			Q9Y237	PIN4_HUMAN	protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin)	0	Necessary for association with the pre- rRNP complexes.|Necessary for nuclear localization and DNA-binding.				protein folding|rRNA processing	cytoplasm|mitochondrial matrix|nucleolus|preribosome|spindle	bent DNA binding|DNA binding|double-stranded DNA binding|peptidyl-prolyl cis-trans isomerase activity			large_intestine(1)|lung(2)	3	Renal(35;0.156)					TCAACAACAAGCTTCCAAGAT	0.547000													5	11					0	0	0.001168	0	0
VPS33A	65082	broad.mit.edu	37	12	122750886	122750886	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:122750886G>T	ENST00000267199.4	-	1	182	c.70C>A	c.(70-72)Cgc>Agc	p.R24S	VPS33A_ENST00000451053.2_Missense_Mutation_p.R24S|RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.R24S	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	24					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AGGAACTCGCGCAGCTCGCGA	0.667000													10	41					4.68919e-08	4.96502e-08	0.008291	1	0
MYH9	4627	broad.mit.edu	37	22	36691644	36691644	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr22:36691644T>A	ENST00000216181.5	-	26	3622	c.3392A>T	c.(3391-3393)gAg>gTg	p.E1131V		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1131					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTTCTGCTTCTCAGCTTTATT	0.547000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				7	37					0	0	0.003163	0	0
TIGD4	201798	broad.mit.edu	37	4	153692046	153692046	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr4:153692046C>G	ENST00000304337.2	-	2	931	c.111G>C	c.(109-111)aaG>aaC	p.K37N		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	37	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CTGCTTTTTTCTTGCCACTTT	0.358000													29	55					0	0	0.006320	0	0
HAX1	10456	broad.mit.edu	37	1	154246316	154246316	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:154246316C>G	ENST00000328703.7	+	3	596	c.383C>G	c.(382-384)tCa>tGa	p.S128*	HAX1_ENST00000532105.1_5'UTR|HAX1_ENST00000457918.2_Nonsense_Mutation_p.S80*|HAX1_ENST00000483970.2_Nonsense_Mutation_p.S136*	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	128	Involved in HCLS1 binding.	Cleavage; by caspase-3.				actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTTCGGGACTCAATGCTTAAG	0.557000									Kostmann syndrome				26	103					0	0	0.006320	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72492036	72492036	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr10:72492036C>T	ENST00000373208.1	+	7	1138	c.1138C>T	c.(1138-1140)Cac>Tac	p.H380Y	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.H377Y	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	377	Peptidase M12B.				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						TGGCATGTGTCACCCCCTGAG	0.597000													3	23					0	0	0.004672	0	0
EPCAM	4072	broad.mit.edu	37	2	47601169	47601169	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:47601169C>G	ENST00000263735.4	+	3	765	c.407C>G	c.(406-408)tCt>tGt	p.S136C	EPCAM_ENST00000405271.1_Missense_Mutation_p.S164C	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	136					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						ATAACCTGCTCTGAGCGAGTG	0.433000													8	39					0	0	0.004482	0	0
RIN3	79890	broad.mit.edu	37	14	93022127	93022127	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:93022127G>C	ENST00000216487.7	+	2	235	c.76G>C	c.(76-78)Gag>Cag	p.E26Q		NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	26	Poly-Glu.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AGGAGAGGAAGAGGAAGAGGA	0.517000													14	22					0	0	0.001855	0	0
KLHL3	26249	broad.mit.edu	37	5	137045500	137045500	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:137045500C>T	ENST00000508657.1	-	3	798	c.84G>A	c.(82-84)gaG>gaA	p.E28E	KLHL3_ENST00000309755.4_Silent_p.E60E|KLHL3_ENST00000394937.3_Silent_p.E60E	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	60						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		GGGCTTCTATCTCGACATCTT	0.537000													26	100					0	0	0.007291	0	0
TNK2	10188	broad.mit.edu	37	3	195595308	195595308	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:195595308G>C	ENST00000333602.6	-	12	2433	c.1816C>G	c.(1816-1818)Cag>Gag	p.Q606E	TNK2_ENST00000428187.1_Missense_Mutation_p.Q638E|TNK2_ENST00000392400.1_Missense_Mutation_p.Q606E|TNK2_ENST00000381916.2_Missense_Mutation_p.Q684E	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	606	Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GTGGGGCTCTGAGGCGGGGTC	0.766000													11	22					0	0	0.010729	0	0
SLC2A1	6513	broad.mit.edu	37	1	43394969	43394969	+	Missense_Mutation	SNP	G	G	C	rs80359823		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:43394969G>C	ENST00000426263.3	-	7	1062	c.884C>G	c.(883-885)aCg>aGg	p.T295R	SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	295			T -> M (in GLUT1DS1; 75% of wild-type glucose uptake activity).		carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GAAGATGCTCGTGGAGTAATA	0.572000													7	9					0	0	0.003080	0	0
RPLP0	6175	broad.mit.edu	37	12	120635242	120635242	+	Silent	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:120635242G>C	ENST00000551150.1	-	6	990	c.675C>G	c.(673-675)gtC>gtG	p.V225V	RPLP0_ENST00000313104.5_Silent_p.V163V|RPLP0_ENST00000546989.1_Silent_p.V189V|RPLP0_ENST00000552292.1_Silent_p.V15V|RPLP0_ENST00000228306.4_Silent_p.V225V|RPLP0_ENST00000392514.4_Silent_p.V225V			P05388	RLA0_HUMAN	ribosomal protein, large, P0	225					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTGCAGACAGACACTGGCAA	0.488000													16	31					0	0	0.004990	0	0
FAM91A1	157769	broad.mit.edu	37	8	124810476	124810476	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr8:124810476C>T	ENST00000334705.7	+	16	1804	c.1558C>T	c.(1558-1560)Cag>Tag	p.Q520*	FAM91A1_ENST00000521166.1_Nonsense_Mutation_p.Q520*	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	520										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CTGCACCCCTCAGGTAAAGAC	0.453000													17	52					0	0	0.004990	0	0
MOGAT1	116255	broad.mit.edu	37	2	223559247	223559247	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:223559247G>C	ENST00000446656.3	+	4	645	c.645G>C	c.(643-645)ttG>ttC	p.L215F		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	215					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		AAATTGCTTTGACCCATGGGT	0.413000													10	23					0	0	0.010729	0	0
COPB1	1315	broad.mit.edu	37	11	14507935	14507935	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:14507935G>C	ENST00000249923.3	-	7	1115	c.815C>G	c.(814-816)tCt>tGt	p.S272C	COPB1_ENST00000439561.2_Missense_Mutation_p.S272C	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	272					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						TGGTGCACTAGAGAGTGTCAC	0.398000													12	93					0	0	0.001855	0	0
NACA	4666	broad.mit.edu	37	12	57110634	57110634	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:57110634C>G	ENST00000454682.1	-	3	4961	c.4680G>C	c.(4678-4680)aaG>aaC	p.K1560N	NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTGCTGGGGTCTTTTTAGGGG	0.567000			T	BCL6	NHL								11	27					0	0	0.001855	0	0
ARCN1	372	broad.mit.edu	37	11	118453900	118453900	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:118453900G>A	ENST00000359415.4	+	4	562	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000264028.4_Missense_Mutation_p.E92K|ARCN1_ENST00000392859.3_Missense_Mutation_p.E4K			P48444	COPD_HUMAN	archain 1	92					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTAGATCCCTGAATATTGCCG	0.348000													35	53					0	0	0.006999	0	0
RNF213	57674	broad.mit.edu	37	17	78358943	78358943	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:78358943C>T	ENST00000582970.1	+	60	14570	c.14427C>T	c.(14425-14427)atC>atT	p.I4809I	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Silent_p.I2882I|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000508628.2_Silent_p.I4858I|RNF213_ENST00000427003.3_3'UTR	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	1175										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACAGCTCCATCAGAGGCTTCC	0.532000													11	44					0	0	0.010729	0	0
BMX	660	broad.mit.edu	37	X	15560113	15560113	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chrX:15560113G>T	ENST00000357607.2	+	15	1591	c.1403G>T	c.(1402-1404)aGc>aTc	p.S468I	BMX_ENST00000348343.6_Missense_Mutation_p.S468I|BMX_ENST00000342014.6_Missense_Mutation_p.S468I			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	468	Protein kinase.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AGGAAACTCAGCCATCCCAAG	0.373000													35	46					2.48696e-23	2.74327e-23	0.003271	1	0
BCAN	63827	broad.mit.edu	37	1	156621405	156621405	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:156621405C>T	ENST00000329117.4	+	7	1557	c.1221C>T	c.(1219-1221)tcC>tcT	p.S407S	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Silent_p.S407S	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	407	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)					CCATCTACTCCATCCCCATCA	0.577000													9	90					0	0	0.008291	0	0
ACIN1	22985	broad.mit.edu	37	14	23548138	23548138	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:23548138C>G	ENST00000262710.1	-	7	2399	c.2072G>C	c.(2071-2073)tGt>tCt	p.C691S	ACIN1_ENST00000555053.1_Missense_Mutation_p.C691S|ACIN1_ENST00000605057.1_Missense_Mutation_p.C633S|ACIN1_ENST00000457657.1_Missense_Mutation_p.C651S	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	691					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTTTGGCTCACAGACCTGCAG	0.542000													9	39					0	0	0.006214	0	0
C16orf98	100652740	broad.mit.edu	37	16	31213943	31213943	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:31213943G>A	ENST00000561916.2	+	2	265	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	PYCARD_ENST00000247470.9_Silent_p.F23F|PYCARD_ENST00000350605.4_Silent_p.F23F					chromosome 16 open reading frame 98																		GCTTCAGCTTGAACTTCTTGA	0.706000													8	42					0	0	0.003080	0	0
RUFY3	22902	broad.mit.edu	37	4	71660554	71660554	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr4:71660554A>T	ENST00000381006.3	+	14	2079	c.1500A>T	c.(1498-1500)agA>agT	p.R500S	RUFY3_ENST00000502653.1_Missense_Mutation_p.R447S	NM_001037442.2	NP_001032519.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	335					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AAGAAAGAAGATTACAAAACG	0.368000													6	91					0	0	0.001984	0	0
BTBD6	90135	broad.mit.edu	37	14	105716585	105716585	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:105716585C>A	ENST00000463376.2	+	3	1350	c.809C>A	c.(808-810)gCc>gAc	p.A270D	BRF1_ENST00000327359.3_Intron|BRF1_ENST00000546474.1_Intron|BRF1_ENST00000440513.3_Intron|BTBD6_ENST00000392554.3_Missense_Mutation_p.A345D|BTBD6_ENST00000536364.1_Missense_Mutation_p.A345D|BTBD6_ENST00000327471.3_Missense_Mutation_p.A270D|BRF1_ENST00000379937.2_Intron			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	345						cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		CAGTCTTCTGCCTACCGCAGC	0.622000													18	57					3.52763e-06	3.67616e-06	0.004990	1	0
SLCO1B1	10599	broad.mit.edu	37	12	21358889	21358889	+	Silent	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:21358889C>G	ENST00000256958.2	+	11	1515	c.1419C>G	c.(1417-1419)gtC>gtG	p.V473V		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	473	Kazal-like.				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			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)	GGGAACCAGTCTGTGGAAACA	0.368000													11	82					0	0	0.010729	0	0
RASGRF1	5923	broad.mit.edu	37	15	79296198	79296198	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:79296198C>T	ENST00000419573.3	-	16	2717	c.2443G>A	c.(2443-2445)Gag>Aag	p.E815K	RASGRF1_ENST00000394745.3_Missense_Mutation_p.E31K|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.E799K	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	817					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTATCGCCCTCATCTGGAATC	0.607000													14	38					0	0	0.002450	0	0
FAM3B	54097	broad.mit.edu	37	21	42694889	42694889	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr21:42694889G>T	ENST00000398652.3	+	3	242	c.176G>T	c.(175-177)tGt>tTt	p.C59F	FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Missense_Mutation_p.C43F|FAM3B_ENST00000398647.3_Intron|FAM3B_ENST00000357985.2_Missense_Mutation_p.C20F			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	20					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				GCCTCCTTGTGTGCCTGGTAT	0.622000													9	44					0.000442599	0.000455837	0.006214	1	0
FAM20A	54757	broad.mit.edu	37	17	66548055	66548055	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:66548055C>T	ENST00000592554.1	-	4	1400	c.678G>A	c.(676-678)ctG>ctA	p.L226L	FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	226						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					CCGAGAACCTCAGCACCAGCT	0.552000													3	3					0	0	0.009096	0	0
DLG1	1739	broad.mit.edu	37	3	196792287	196792287	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:196792287C>T	ENST00000346964.2	-	23	2521	c.2332G>A	c.(2332-2334)Gat>Aat	p.D778N	DLG1_ENST00000419354.1_Missense_Mutation_p.D756N|DLG1_ENST00000357674.4_Missense_Mutation_p.D745N|DLG1_ENST00000452595.1_Missense_Mutation_p.D640N|DLG1_ENST00000314062.3_Missense_Mutation_p.D705N|DLG1_ENST00000450955.1_Missense_Mutation_p.D745N|DLG1_ENST00000448528.2_Missense_Mutation_p.D756N|DLG1_ENST00000443183.1_Missense_Mutation_p.D652N|DLG1_ENST00000422288.1_Missense_Mutation_p.D705N|DLG1_ENST00000392382.2_Missense_Mutation_p.D723N	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	756	Guanylate kinase-like.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TCTCTTCCATCTACCTCATAA	0.303000													7	135					0	0	0.001984	0	0
ZNF354C	30832	broad.mit.edu	37	5	178507032	178507032	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:178507032C>T	ENST00000315475.6	+	5	1905	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|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)	all cancers(165;0.247)		GGAAACCTTTCATCTGCAGCT	0.383000													19	84					0	0	0.006320	0	0
HUWE1	10075	broad.mit.edu	37	X	53602642	53602642	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chrX:53602642C>G	ENST00000342160.3	-	44	6448	c.5991G>C	c.(5989-5991)caG>caC	p.Q1997H	HUWE1_ENST00000262854.6_Missense_Mutation_p.Q1997H			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1997					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGTCACTGCTCTGACGCGTAA	0.448000													6	7					0	0	0.001984	0	0
FGGY	55277	broad.mit.edu	37	1	59844477	59844477	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:59844477C>G	ENST00000371218.4	+	5	706	c.522C>G	c.(520-522)ttC>ttG	p.F174L	FGGY_ENST00000303721.7_Missense_Mutation_p.F174L|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Missense_Mutation_p.F86L	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	174					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCCGGACTTCTTATCGTGGA	0.393000													3	47					0	0	0.004672	0	0
MAP10	54627	broad.mit.edu	37	1	232941206	232941206	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:232941206C>G	ENST00000418460.1	+	1	564	c.437C>G	c.(436-438)tCg>tGg	p.S146W		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		ATGGCGGCCTCGCTGTCCGAG	0.677000													7	14					0	0	0.001984	0	0
TRANK1	9881	broad.mit.edu	37	3	36897603	36897603	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:36897603C>G	ENST00000301807.6	-	12	3725	c.1828G>C	c.(1828-1830)Gag>Cag	p.E610Q	TRANK1_ENST00000429976.2_Missense_Mutation_p.E1160Q|TRANK1_ENST00000428977.2_Missense_Mutation_p.E610Q	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1160					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTTTGTACCTCCTGGCACAGC	0.502000													8	117					0	0	0.003080	0	0
TRIP11	9321	broad.mit.edu	37	14	92471001	92471001	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:92471001C>T	ENST00000267622.4	-	11	3692	c.3319G>A	c.(3319-3321)Gag>Aag	p.E1107K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1107			E -> D (in dbSNP:rs4619320).		transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTAGTCTTCTCATTCAAAACA	0.363000			T	PDGFRB	AML								13	35					0	0	0.001368	0	0
THOC2	57187	broad.mit.edu	37	X	122866817	122866817	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chrX:122866817G>A	ENST00000245838.8	-	1	87	c.56C>T	c.(55-57)tCa>tTa	p.S19L	THOC2_ENST00000355725.4_Missense_Mutation_p.S19L	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	19					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GCCTCTCCCTGATTTCTCCCA	0.632000											OREG0003978|OREG0003979	type=REGULATORY REGION|Gene=BC041435|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=THOC2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	37					0	0	0.001984	0	0
TRPC1	7220	broad.mit.edu	37	3	142443489	142443489	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:142443489G>A	ENST00000273482.6	+	1	479	c.88G>A	c.(88-90)Gag>Aag	p.E30K	TRPC1_ENST00000476941.1_Missense_Mutation_p.E30K	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	30					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ctcGCCGAACGAGGTGATGGC	0.617000													12	65					0	0	0.010729	0	0
GPSM2	29899	broad.mit.edu	37	1	109461321	109461321	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:109461321G>A	ENST00000406462.1	+	13	2123	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L	GPSM2_ENST00000264126.3_Silent_p.L450L|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	450					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TCAACAGACTGAAGGGGAAAA	0.373000													9	56					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179498729	179498729	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:179498729G>A	ENST00000589042.1	-	231	42721	c.42497C>T	c.(42496-42498)tCt>tTt	p.S14166F	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S5293F|TTN_ENST00000460472.2_Missense_Mutation_p.S5101F|TTN_ENST00000359218.5_Missense_Mutation_p.S5226F|TTN_ENST00000591111.1_Missense_Mutation_p.S12525F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S11598F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12525	Fibronectin type-III 2.						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)			TTTTTCATGAGAAAGTTCACA	0.368000													69	156					0	0	0.003610	0	0
OS9	10956	broad.mit.edu	37	12	58112070	58112070	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:58112070G>C	ENST00000315970.7	+	11	1317	c.1276G>C	c.(1276-1278)Gat>Cat	p.D426H	RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000439210.2_Missense_Mutation_p.D367H|OS9_ENST00000389146.6_Missense_Mutation_p.D426H|OS9_ENST00000389142.5_Missense_Mutation_p.D426H|OS9_ENST00000551035.1_Missense_Mutation_p.D394H|OS9_ENST00000413095.2_Missense_Mutation_p.D220H|OS9_ENST00000257966.8_Missense_Mutation_p.D427H|OS9_ENST00000435406.2_Missense_Mutation_p.D374H|OS9_ENST00000552285.1_Missense_Mutation_p.D426H	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	426	Asp/Glu-rich (acidic).				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			tgaggatgaagatgaggatga	0.542000													6	74					0	0	0.001168	0	0
DCBLD2	131566	broad.mit.edu	37	3	98518364	98518364	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:98518364G>A	ENST00000326840.6	-	16	2542	c.2180C>T	c.(2179-2181)tCa>tTa	p.S727L	DCBLD2_ENST00000326857.9_Missense_Mutation_p.S741L	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	727					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GGCCTGGGCTGAGGAGCAGCT	0.557000													68	233					0	0	0.003610	0	0
KATNB1	10300	broad.mit.edu	37	16	57786709	57786709	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:57786709G>C	ENST00000379661.3	+	10	1116	c.724G>C	c.(724-726)Gac>Cac	p.D242H		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	242	Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				CTTCAACCCAGACGGCTGCTG	0.657000													4	28					0	0	0.009096	0	0
KPNA1	3836	broad.mit.edu	37	3	122170899	122170899	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:122170899G>C	ENST00000344337.6	-	7	753	c.577C>G	c.(577-579)Ctt>Gtt	p.L193V	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	193	NLS binding site (major) (By similarity).				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		ATGTTGCCAAGAGCCCAGACT	0.398000													42	176					0	0	0.003610	0	0
TNIP3	79931	broad.mit.edu	37	4	122078303	122078303	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr4:122078303C>T	ENST00000454328.1	-	6	536	c.309G>A	c.(307-309)caG>caA	p.Q103Q	TNIP3_ENST00000057513.3_Silent_p.Q103Q|TNIP3_ENST00000507879.1_Silent_p.Q173Q|TNIP3_ENST00000509841.1_Silent_p.Q180Q			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	103										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CGTCCTCTCTCTGCCTGTCGT	0.642000													111	275					0	0	0.003610	0	0
TAF7L	54457	broad.mit.edu	37	X	100532640	100532640	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chrX:100532640C>G	ENST00000372907.3	-	9	914	c.903G>C	c.(901-903)ttG>ttC	p.L301F	TAF7L_ENST00000356784.1_Missense_Mutation_p.L215F|TAF7L_ENST00000372905.2_Missense_Mutation_p.L215F|TAF7L_ENST00000324762.6_Missense_Mutation_p.L215F	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	301					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CCGAGGATATCAAAAATCCTG	0.468000													20	97					0	0	0.008871	0	0
IL4R	3566	broad.mit.edu	37	16	27375021	27375021	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:27375021C>T	ENST00000395762.2	+	11	2607	c.2348C>T	c.(2347-2349)tCg>tTg	p.S783L	IL4R_ENST00000380922.3_Missense_Mutation_p.S768L|IL4R_ENST00000170630.2_Missense_Mutation_p.S783L|IL4R_ENST00000543915.2_Missense_Mutation_p.S783L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	783					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	p.S783L(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTGGCACCCTCGGGCATCTCA	0.612000													19	57					0	0	0.010504	0	0
C16orf89	146556	broad.mit.edu	37	16	5112511	5112511	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:5112511G>A	ENST00000315997.5	-	2	474	c.273C>T	c.(271-273)cgC>cgT	p.R91R	C16orf89_ENST00000350219.4_Silent_p.R129R|C16orf89_ENST00000422873.1_Silent_p.R129R|C16orf89_ENST00000472572.3_Silent_p.R91R|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000474471.3_Silent_p.R91R	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	91						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						GCATCCCCACGCGCAGGCTCA	0.572000													22	59					0	0	0.002299	0	0
MRPL47	57129	broad.mit.edu	37	3	179306692	179306692	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:179306692G>C	ENST00000476781.1	-	7	750	c.721C>G	c.(721-723)Ctt>Gtt	p.L241V	MRPL47_ENST00000259038.2_Missense_Mutation_p.L221V|MRPL47_ENST00000392659.2_Missense_Mutation_p.L131V	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	241					translation	mitochondrial ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			GCTTCAGCAAGATGTGGAAAC	0.343000													13	165					0	0	0.001855	0	0
CEP250	11190	broad.mit.edu	37	20	34054830	34054830	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr20:34054830C>T	ENST00000397527.1	+	8	1252	c.532C>T	c.(532-534)Ctc>Ttc	p.L178F	CEP250_ENST00000397524.1_Missense_Mutation_p.L178F|CEP250_ENST00000342580.4_Missense_Mutation_p.L178F	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	178					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CGGTCGCCTTCTCAGTCTATG	0.532000													17	45					0	0	0.006122	0	0
DFFB	1677	broad.mit.edu	37	1	3782217	3782217	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:3782217C>T	ENST00000378212.2	+	3	575	c.252C>T	c.(250-252)gtC>gtT	p.V84V	DFFB_ENST00000378209.3_Intron|DFFB_ENST00000338895.3_Intron			O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	0					apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CTGTTGGTGTCAGGGCAAGGA	0.597000													5	20					0	0	0.000602	0	0
AHRR	57491	broad.mit.edu	37	5	434023	434023	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:434023C>T	ENST00000316418.5	+	12	1278	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	AHRR_ENST00000505113.1_Missense_Mutation_p.R394W|AHRR_ENST00000512529.1_Missense_Mutation_p.R240W|AHRR_ENST00000506456.1_Missense_Mutation_p.R250W	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			AGTGACAGGGCGGAGGGAGAC	0.632000													5	37					0	0	0.000602	0	0
ZNF671	79891	broad.mit.edu	37	19	58233748	58233748	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:58233748C>A	ENST00000317398.6	-	3	419	c.324G>T	c.(322-324)tgG>tgT	p.W108C	ZNF671_ENST00000596939.1_3'UTR|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.W10C|ZNF671_ENST00000594803.1_5'UTR	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	108	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		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;0.0257)		GGTCATACACCCAGGGCTCTT	0.537000													10	209					7.48243e-07	7.84912e-07	0.006214	1	0
TRIP11	9321	broad.mit.edu	37	14	92470322	92470322	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:92470322C>T	ENST00000267622.4	-	11	4371	c.3998G>A	c.(3997-3999)aGt>aAt	p.S1333N		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1333					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTCAGACTTACTTGCTCTAAG	0.383000			T	PDGFRB	AML								12	59					0	0	0.001368	0	0
RCC2	55920	broad.mit.edu	37	1	17749292	17749292	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:17749292C>G	ENST00000375436.4	-	5	751	c.564G>C	c.(562-564)aaG>aaC	p.K188N	RCC2_ENST00000375433.3_Missense_Mutation_p.K188N	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	188					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		CTTCTACTCTCTTGGTGTCAC	0.557000													21	68					0	0	0.003954	0	0
STAT4	6775	broad.mit.edu	37	2	191895766	191895766	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:191895766G>A	ENST00000392320.2	-	23	2466	c.2152C>T	c.(2152-2154)Ctt>Ttt	p.L718F	STAT4_ENST00000358470.4_Missense_Mutation_p.L718F|AC067945.4_ENST00000456176.1_RNA	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	718					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)			GACATGGGAAGAAGGTCTGAT	0.403000													35	146					0	0	0.007835	0	0
PCDH17	27253	broad.mit.edu	37	13	58208612	58208612	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr13:58208612G>T	ENST00000377918.3	+	1	1958	c.1932G>T	c.(1930-1932)gaG>gaT	p.E644D		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	644	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCAGCGGCGAGATCCGCACGC	0.657000													43	122					2.13384e-23	2.35704e-23	0.003610	1	0
ABCB5	340273	broad.mit.edu	37	7	20739704	20739704	+	Silent	SNP	G	G	T	rs148327292		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr7:20739704G>T	ENST00000404938.2	+	19	2935	c.2283G>T	c.(2281-2283)ggG>ggT	p.G761G	ABCB5_ENST00000258738.6_Silent_p.G316G	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	316	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						GCAGAGCAGGGGAAATTTTAA	0.284000													12	39					0.00244969	0.00251316	0.002450	1	0
NACA	4666	broad.mit.edu	37	12	57110190	57110190	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:57110190C>G	ENST00000454682.1	-	3	5405	c.5124G>C	c.(5122-5124)aaG>aaC	p.K1708N	NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TAGCAGAACTCTTTTTGGTCT	0.522000			T	BCL6	NHL								78	265					0	0	0.003610	0	0
DMRTB1	63948	broad.mit.edu	37	1	53925595	53925595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:53925595C>T	ENST00000371445.3	+	1	524	c.469C>T	c.(469-471)Ctt>Ttt	p.L157F		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	157	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						GATGCCCAGCCTTGCGGGACC	0.761000													5	9					0	0	0.000602	0	0
TMEM198	130612	broad.mit.edu	37	2	220412742	220412742	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:220412742C>T	ENST00000344458.2	+	4	1266	c.681C>T	c.(679-681)ctC>ctT	p.L227L	TMEM198_ENST00000373883.3_Silent_p.L227L			Q66K66	TM198_HUMAN	transmembrane protein 198	227	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGCCCCTGCTCAGCCTGATGG	0.667000													3	12					0	0	0.004672	0	0
HTR2A	3356	broad.mit.edu	37	13	47466711	47466711	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr13:47466711G>A	ENST00000378688.4	-	2	558	c.427C>T	c.(427-429)Ctg>Ttg	p.L143L	HTR2A_ENST00000542664.1_Silent_p.L143L|HTR2A_ENST00000543956.1_Silent_p.L59L			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	143					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)	TTGCTCGGCAGAGGCCACCGG	0.572000													20	84					0	0	0.010504	0	0
XKR3	150165	broad.mit.edu	37	22	17288751	17288751	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr22:17288751G>A	ENST00000331428.5	-	2	315	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	71						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TAATAAAGCTGATGGTAAATG	0.358000													16	46					0	0	0.004007	0	0
CCDC34	91057	broad.mit.edu	37	11	27384432	27384432	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:27384432C>G	ENST00000317945.6	-	1	349	c.310G>C	c.(310-312)Gag>Cag	p.E104Q	CCDC34_ENST00000328697.6_Missense_Mutation_p.E104Q	NM_080654.2	NP_542385.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	104								p.E104K(1)		endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						ACTTTGGCCTCTGAATCATGG	0.572000													27	81					0	0	0.007291	0	0
FAM135B	51059	broad.mit.edu	37	8	139164359	139164359	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr8:139164359C>T	ENST00000395297.1	-	13	2529	c.2359G>A	c.(2359-2361)Gac>Aac	p.D787N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	787								p.D787Y(2)|p.D787N(2)		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)			TGCTTGGTGTCCGCATCTTCA	0.522000										HNSCC(54;0.14)			8	55					0	0	0.003080	0	0
SVOP	55530	broad.mit.edu	37	12	109306418	109306418	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:109306418C>A	ENST00000299134.5	-	14	1343	c.1344G>T	c.(1342-1344)aaG>aaT	p.K448N		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						AGTCCTCGGCCTTTGGTCTCA	0.607000													44	79					6.4771e-29	7.17463e-29	0.010771	1	0
USF2	7392	broad.mit.edu	37	19	35761375	35761375	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:35761375A>G	ENST00000222305.3	+	5	492	c.455A>G	c.(454-456)aAt>aGt	p.N152S	USF2_ENST00000595068.1_Missense_Mutation_p.N152S|USF2_ENST00000343550.5_Missense_Mutation_p.N85S|USF2_ENST00000594064.1_Missense_Mutation_p.N150S|USF2_ENST00000379134.3_Intron	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting	152					lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCTTCAGCAATGGTGGCAGT	0.592000													23	53					0	0	0.003954	0	0
OSBPL9	114883	broad.mit.edu	37	1	52246990	52246990	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:52246990G>A	ENST00000371710.3	+	16	1647	c.1465G>A	c.(1465-1467)Gat>Aat	p.D489N	OSBPL9_ENST00000337809.4_Missense_Mutation_p.D476N|OSBPL9_ENST00000486942.1_Missense_Mutation_p.D293N|OSBPL9_ENST00000531828.1_Missense_Mutation_p.D306N|OSBPL9_ENST00000530544.1_Missense_Mutation_p.D390N|OSBPL9_ENST00000462759.1_Missense_Mutation_p.D293N|OSBPL9_ENST00000447887.1_Missense_Mutation_p.D481N|OSBPL9_ENST00000453295.1_Missense_Mutation_p.D454N|OSBPL9_ENST00000361556.5_Missense_Mutation_p.D361N|OSBPL9_ENST00000435686.2_Missense_Mutation_p.D306N|OSBPL9_ENST00000428468.1_Missense_Mutation_p.D471N|OSBPL9_ENST00000371714.1_Missense_Mutation_p.D458N	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	471					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATTACCAAATGATACTGAAGA	0.358000													12	22					0	0	0.001855	0	0
ELMO3	79767	broad.mit.edu	37	16	67237075	67237075	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:67237075G>C	ENST00000393997.2	+	17	1945	c.1888G>C	c.(1888-1890)Gac>Cac	p.D630H	ELMO3_ENST00000360833.1_Missense_Mutation_p.D613H|ELMO3_ENST00000477898.1_Missense_Mutation_p.D464H	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	577	PH.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	p.D630N(1)		cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GCAGTACGGAGACATGGAGGA	0.647000													10	26					0	0	0.008291	0	0
MAP1LC3C	440738	broad.mit.edu	37	1	242162283	242162283	+	Missense_Mutation	SNP	C	C	T	rs141733716	by1000genomes	TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:242162283C>T	ENST00000357246.3	-	1	92	c.28G>A	c.(28-30)Gtc>Atc	p.V10I		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	10					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AAGGGTCTGACGCTTGGGATT	0.458000											OREG0014354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	61					0	0	0.010504	0	0
UACA	55075	broad.mit.edu	37	15	70959538	70959538	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:70959538G>C	ENST00000322954.6	-	16	3670	c.3485C>G	c.(3484-3486)tCt>tGt	p.S1162C	UACA_ENST00000539319.1_Missense_Mutation_p.S1053C|UACA_ENST00000560441.1_Missense_Mutation_p.S1147C|UACA_ENST00000379983.2_Missense_Mutation_p.S1149C	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1162						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GGGTACAGAAGAGTTCTTTTG	0.398000													64	134					0	0	0.003610	0	0
LSM14B	149986	broad.mit.edu	37	20	60706468	60706468	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr20:60706468G>A	ENST00000253001.4	+	7	1098	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	LSM14B_ENST00000279068.6_Missense_Mutation_p.E298K			Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	298					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CCAGAGTGCCGAAGCGCCCGC	0.537000													7	27					0	0	0.003080	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884017	24884017	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr14:24884017C>G	ENST00000382554.3	+	9	3380	c.3062C>G	c.(3061-3063)tCt>tGt	p.S1021C		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1021					DNA integration	integral to membrane	DNA binding			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						GACCTTGACTCTTCGCTGGCG	0.607000													22	35					0	0	0.002299	0	0
MALAT1	378938	broad.mit.edu	37	11	65272416	65272416	+	RNA	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:65272416C>G	ENST00000534336.1	+	0	7184					NR_002819.2																						ACCACTAGTTCTTTCAGATGG	0.378000													3	17					0	0	0.009096	0	0
CHRNA3	1136	broad.mit.edu	37	15	78894511	78894511	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:78894511G>T	ENST00000326828.5	-	5	857	c.473C>A	c.(472-474)tCc>tAc	p.S158Y	CHRNA3_ENST00000348639.3_Missense_Mutation_p.S158Y	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	158					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GATTTTACAGGAGCTCTTAAA	0.493000													6	93					3.59834e-05	3.73021e-05	0.001168	1	0
FCRL4	83417	broad.mit.edu	37	1	157556066	157556066	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:157556066C>G	ENST00000271532.1	-	6	1162	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	343	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AGCTCCAGCTCTGCTCTCAGG	0.582000													24	70					0	0	0.002299	0	0
RNF145	153830	broad.mit.edu	37	5	158585719	158585719	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:158585719G>A	ENST00000424310.2	-	11	2310	c.1951C>T	c.(1951-1953)Cac>Tac	p.H651Y	RNF145_ENST00000519865.1_Missense_Mutation_p.H651Y|RNF145_ENST00000520638.1_Missense_Mutation_p.H665Y|RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000274542.2_Missense_Mutation_p.H679Y|RNF145_ENST00000518802.1_Missense_Mutation_p.H681Y|RNF145_ENST00000521606.2_Missense_Mutation_p.H668Y	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	651						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCGCACTGTGAGGATATTCT	0.473000													34	159					0	0	0.003271	0	0
OR8S1	341568	broad.mit.edu	37	12	48920205	48920205	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:48920205C>T	ENST00000310194.1	+	1	791	c.791C>T	c.(790-792)tCa>tTa	p.S264L	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						ATGCCAAACTCAGGTTCCCCC	0.498000													24	72					0	0	0.003330	0	0
VPS13B	157680	broad.mit.edu	37	8	100866028	100866028	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr8:100866028G>A	ENST00000358544.2	+	56	10597	c.10486G>A	c.(10486-10488)Gaa>Aaa	p.E3496K	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.E3471K	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3496					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGAGTTGGAAGAATACAAGGA	0.383000													23	63					0	0	0.012319	0	0
ESRRA	2101	broad.mit.edu	37	11	64082296	64082296	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:64082296G>A	ENST00000405666.1	+	5	889	c.655G>A	c.(655-657)Gat>Aat	p.D219N	ESRRA_ENST00000406310.1_Missense_Mutation_p.D218N|ESRRA_ENST00000000442.6_Missense_Mutation_p.D219N			P11474	ERR1_HUMAN	estrogen-related receptor alpha	219	Ligand binding domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CGCAGGCCCTGATGGGCACCT	0.587000													17	50					0	0	0.004990	0	0
AC010547.9	0	broad.mit.edu	37	16	71512138	71512138	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:71512138G>A	ENST00000561908.1	-	5	769	c.267C>T	c.(265-267)gtC>gtT	p.V89V	ZNF19_ENST00000565100.2_Silent_p.V19V|ZNF19_ENST00000288177.5_Silent_p.V89V|ZNF19_ENST00000567225.1_Silent_p.V89V|ZNF19_ENST00000565637.1_Silent_p.V47V|ZNF19_ENST00000564230.1_Silent_p.V89V																							TACCTTTACAGACGTTTTTGG	0.448000													8	34					0	0	0.004482	0	0
GRIA2	2891	broad.mit.edu	37	4	158224904	158224904	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr4:158224904C>A	ENST00000296526.7	+	3	755	c.430C>A	c.(430-432)Caa>Aaa	p.Q144K	GRIA2_ENST00000507898.1_Missense_Mutation_p.Q97K|GRIA2_ENST00000264426.9_Missense_Mutation_p.Q144K|GRIA2_ENST00000393815.2_Missense_Mutation_p.Q97K|GRIA2_ENST00000449365.1_Missense_Mutation_p.Q97K	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	144					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TGAATACTATCAATGGGACAA	0.443000													33	106					1.08312e-15	1.17996e-15	0.009535	1	0
C16orf72	29035	broad.mit.edu	37	16	9210763	9210763	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:9210763G>A	ENST00000327827.7	+	4	1219	c.822G>A	c.(820-822)atG>atA	p.M274I		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	274										endometrium(4)|large_intestine(2)|lung(2)	8						GCAACAGAATGATCTAAACTG	0.448000													14	90					0	0	0.003163	0	0
NFATC2	4773	broad.mit.edu	37	20	50140540	50140540	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr20:50140540G>A	ENST00000371564.3	-	2	459	c.240C>T	c.(238-240)ggC>ggT	p.G80G	NFATC2_ENST00000414705.1_Silent_p.G60G|NFATC2_ENST00000396009.3_Silent_p.G80G	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	80					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGGGGGGCTCGCCAGAGAGAC	0.657000													22	75					0	0	0.012319	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125879726	125879726	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:125879726G>C	ENST00000393434.2	-	2	446	c.97C>G	c.(97-99)Cca>Gca	p.P33A	ALDH1L1_ENST00000273450.3_Missense_Mutation_p.P43A|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.P33A|ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.P33A|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.P33A	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	33	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TCCTTGTCTGGAACAGTGAAC	0.572000													15	117					0	0	0.003163	0	0
PARD3B	117583	broad.mit.edu	37	2	206166459	206166459	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:206166459C>T	ENST00000462231.1	+	18	2824	c.2664C>T	c.(2662-2664)ctC>ctT	p.L888L	PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000349953.3_Intron|PARD3B_ENST00000406610.2_Intron|PARD3B_ENST00000351153.1_Intron			Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	0	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AGTTGGTTCTCATTTTGTCTC	0.458000													15	40					0	0	0.004007	0	0
TUBA8	51807	broad.mit.edu	37	22	18604405	18604405	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr22:18604405G>A	ENST00000330423.3	+	2	236	c.163G>A	c.(163-165)Gag>Aag	p.E55K	TUBA8_ENST00000316027.6_5'UTR	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	55					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CTTTTTCAGCGAGACTGGCAA	0.557000													9	56					0	0	0.004482	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959218	45959218	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr21:45959218G>A	ENST00000400375.1	-	1	860	c.816C>T	c.(814-816)ctC>ctT	p.L272L	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	272						keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						CGGGGCGGCAGAGGAGGGACA	0.726000													12	22					0	0	0.010729	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555807	155555807	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:155555807G>A	ENST00000295101.2	+	1	997	c.520G>A	c.(520-522)Gcc>Acc	p.A174T	KCNJ3_ENST00000544049.1_Missense_Mutation_p.A174T	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	174					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CATCGTGGACGCCTTCCTCAT	0.597000													13	49					0	0	0.001855	0	0
PPP6R2	9701	broad.mit.edu	37	22	50845240	50845240	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr22:50845240A>G	ENST00000359139.3	+	4	744	c.350A>G	c.(349-351)aAt>aGt	p.N117S	PPP6R2_ENST00000395744.3_Missense_Mutation_p.N117S|PPP6R2_ENST00000216061.5_Missense_Mutation_p.N117S|PPP6R2_ENST00000395741.3_Missense_Mutation_p.N117S	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	117						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CCGCCTCTCAATCCTCTGCTC	0.547000													88	257					0	0	0.003610	0	0
MAMDC4	158056	broad.mit.edu	37	9	139749723	139749723	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr9:139749723G>A	ENST00000445819.1	+	11	1265	c.1215G>A	c.(1213-1215)caG>caA	p.Q405Q	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Silent_p.Q405Q			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	405	MAM 2.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TGGCCGGGCAGACAGGCCCGG	0.672000													21	22					0	0	0.012319	0	0
MYLIP	29116	broad.mit.edu	37	6	16141928	16141928	+	Silent	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr6:16141928G>T	ENST00000356840.3	+	3	549	c.351G>T	c.(349-351)gtG>gtT	p.V117V	MYLIP_ENST00000349606.4_5'UTR	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	117	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			AGCAGGCAGTGGAACTCAGTG	0.527000													9	70					3.09899e-07	3.25949e-07	0.004482	1	0
UHMK1	127933	broad.mit.edu	37	1	162470803	162470803	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr1:162470803C>T	ENST00000489294.1	+	3	820	c.662C>T	c.(661-663)tCa>tTa	p.S221L	UHMK1_ENST00000545294.1_Missense_Mutation_p.S147L|UHMK1_ENST00000538489.1_Missense_Mutation_p.S221L|UHMK1_ENST00000282169.8_3'UTR	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	221	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GAATGTACCTCAGCTGTTGAT	0.443000													6	39					0	0	0.001984	0	0
FAM135B	51059	broad.mit.edu	37	8	139164976	139164976	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr8:139164976G>C	ENST00000395297.1	-	13	1912	c.1742C>G	c.(1741-1743)tCt>tGt	p.S581C		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	581										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)			CTTATCTCTAGAGCTCCTACT	0.478000										HNSCC(54;0.14)			34	95					0	0	0.002836	0	0
BLOC1S3	388552	broad.mit.edu	37	19	45683082	45683082	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:45683082C>G	ENST00000433642.2	+	2	624	c.528C>G	c.(526-528)atC>atG	p.I176M	AC005779.2_ENST00000593083.1_Missense_Mutation_p.I1M|BLOC1S3_ENST00000587722.1_Missense_Mutation_p.I176M	NM_212550.3	NP_997715.1	Q6QNY0	BL1S3_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 3	176					cellular membrane organization|eye development|melanosome organization|platelet activation|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex	identical protein binding			ovary(1)|skin(1)	2		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GTCTGGACATCGTGGCTGGCT	0.726000									Hermansky-Pudlak syndrome				9	22					0	0	0.004482	0	0
GREB1	9687	broad.mit.edu	37	2	11774361	11774361	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr2:11774361G>T	ENST00000381486.2	+	29	5396	c.5096G>T	c.(5095-5097)tGg>tTg	p.W1699L	GREB1_ENST00000396123.1_Missense_Mutation_p.W697L|GREB1_ENST00000234142.5_Missense_Mutation_p.W1699L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1699						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)		CTGCGGAAGTGGTCCAGCAAG	0.607000													16	64					6.31663e-08	6.67036e-08	0.003163	1	0
GPR98	84059	broad.mit.edu	37	5	90074289	90074289	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr5:90074289C>T	ENST00000405460.2	+	63	12808	c.12712C>T	c.(12712-12714)Cag>Tag	p.Q4238*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4238	Calx-beta 28.				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)		CTATGAGTTTCAGCTCACTGC	0.468000													7	20					0	0	0.001984	0	0
TIAM1	7074	broad.mit.edu	37	21	32493057	32493057	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr21:32493057T>C	ENST00000286827.3	-	29	4876	c.4405A>G	c.(4405-4407)Aaa>Gaa	p.K1469E	TIAM1_ENST00000541036.1_Missense_Mutation_p.K1409E	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1469					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						TGGGACTCTTTCTCCGGGCTG	0.577000													3	58					0	0	0.004672	0	0
THAP1	55145	broad.mit.edu	37	8	42693174	42693174	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr8:42693174G>A	ENST00000254250.3	-	3	803	c.573C>T	c.(571-573)gaC>gaT	p.D191D	THAP1_ENST00000345117.2_3'UTR	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated protein 1	191					cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CTGATACGTCGTCTTTCTCTT	0.388000													24	87					0	0	0.003330	0	0
DNAH1	25981	broad.mit.edu	37	3	52382931	52382931	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:52382931G>A	ENST00000420323.2	+	13	2395	c.2134G>A	c.(2134-2136)Ggt>Agt	p.G712S		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	712	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTTCATCAGCGGTGACCCCCT	0.617000													6	78					0	0	0.001984	0	0
PTPRD	5789	broad.mit.edu	37	9	8524994	8524994	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr9:8524994T>C	ENST00000381196.4	-	15	1153	c.610A>G	c.(610-612)Aaa>Gaa	p.K204E	PTPRD_ENST00000486161.1_Missense_Mutation_p.K204E|PTPRD_ENST00000356435.5_Missense_Mutation_p.K204E|PTPRD_ENST00000355233.5_Missense_Mutation_p.K204E|PTPRD_ENST00000397606.3_Missense_Mutation_p.K198E|PTPRD_ENST00000397611.3_Missense_Mutation_p.K201E|PTPRD_ENST00000397617.3_Missense_Mutation_p.K198E|PTPRD_ENST00000540109.1_Missense_Mutation_p.K204E|PTPRD_ENST00000360074.4_Missense_Mutation_p.K195E|PTPRD_ENST00000537002.1_Missense_Mutation_p.K201E|PTPRD_ENST00000358503.5_Missense_Mutation_p.K195E	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	204	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CACTCATATTTTCCTTGGTCA	0.458000										TSP Lung(15;0.13)			49	135					0	0	0.003610	0	0
MALAT1	378938	broad.mit.edu	37	11	65272480	65272480	+	RNA	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:65272480G>A	ENST00000534336.1	+	0	7248					NR_002819.2																						TGGACAAAATGAGGAAAACAG	0.368000													10	26					0	0	0.008291	0	0
PLCH1	23007	broad.mit.edu	37	3	155200497	155200497	+	Silent	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr3:155200497C>T	ENST00000460012.1	-	23	3585	c.3228G>A	c.(3226-3228)gaG>gaA	p.E1076E	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000340059.7_Silent_p.E1114E|PLCH1_ENST00000334686.6_Silent_p.E1076E|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Silent_p.E1076E			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1114					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)			CCACAAAGTCCTCAGGATTAC	0.478000													28	112					0	0	0.004656	0	0
MALAT1	378938	broad.mit.edu	37	11	65272556	65272556	+	RNA	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:65272556G>A	ENST00000534336.1	+	0	7324					NR_002819.2																						GTATTGAATAGATTTCAGCTT	0.413000													17	45					0	0	0.004990	0	0
PPP1R18	170954	broad.mit.edu	37	6	30647097	30647097	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr6:30647097C>G	ENST00000274853.3	-	2	3557	c.1681G>C	c.(1681-1683)Gag>Cag	p.E561Q	PPP1R18_ENST00000488324.1_5'UTR|PPP1R18_ENST00000399199.3_Missense_Mutation_p.E561Q	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	561						cytoplasm|cytoskeleton	actin binding										CCCAGCTCCTCCAGTACCGAA	0.627000													24	46					0	0	0.003954	0	0
ZNF76	7629	broad.mit.edu	37	6	35260660	35260660	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr6:35260660G>T	ENST00000373953.3	+	11	1434	c.1168G>T	c.(1168-1170)Gcc>Tcc	p.A390S	ZNF76_ENST00000339411.5_Missense_Mutation_p.A390S|ZNF76_ENST00000440666.2_Missense_Mutation_p.A364S	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	390					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TCTCCCAGCCGCCTCTGCAGC	0.617000													9	88					2.74318e-10	2.93594e-10	0.006214	1	0
KIAA1549	57670	broad.mit.edu	37	7	138603406	138603406	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr7:138603406G>A	ENST00000440172.1	-	2	1014	c.966C>T	c.(964-966)taC>taT	p.Y322Y	KIAA1549_ENST00000242365.4_Silent_p.Y272Y|KIAA1549_ENST00000422774.1_Silent_p.Y322Y	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	322						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCACATCAGTGTATCTGTCTG	0.542000			O	BRAF	pilocytic astrocytoma								36	48					0	0	0.003755	0	0
TAOK2	9344	broad.mit.edu	37	16	29994909	29994909	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr16:29994909C>T	ENST00000308893.4	+	13	2389	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	TAOK2_ENST00000279394.3_Missense_Mutation_p.S449F|TAOK2_ENST00000416441.2_Missense_Mutation_p.S276F|TAOK2_ENST00000543033.1_Missense_Mutation_p.S449F	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	449					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCTCCCACTTCCACCACCTCT	0.622000													9	466					0	0	0.004482	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49967126	49967126	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:49967126G>A	ENST00000293350.4	+	9	1277	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	ALDH16A1_ENST00000455361.2_Missense_Mutation_p.D321N|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.D207N|CTD-3148I10.9_ENST00000599536.1_Silent_p.*7*|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.D209N	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	372							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CCAGGCTGGTGATGTGCCTTC	0.602000													49	221					0	0	0.003610	0	0
PRDM11	56981	broad.mit.edu	37	11	45241256	45241256	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:45241256G>A	ENST00000263765.4	+	7	1041	c.792G>A	c.(790-792)atG>atA	p.M264I	PRDM11_ENST00000424263.2_Missense_Mutation_p.M230I|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_3'UTR|PRDM11_ENST00000530656.1_Missense_Mutation_p.M264I			Q9NQV5	PRD11_HUMAN	PR domain containing 11	264	SET.									endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGGACTACATGAAGCGCCTGC	0.637000													13	31					0	0	0.001368	0	0
C12orf57	113246	broad.mit.edu	37	12	7054986	7054986	+	Silent	SNP	G	G	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:7054986G>A	ENST00000537087.1	+	3	483	c.195G>A	c.(193-195)gaG>gaA	p.E65E	C12orf57_ENST00000540506.2_Silent_p.E59E|C12orf57_ENST00000229281.5_Silent_p.E94E|C12orf57_ENST00000542222.1_3'UTR			Q99622	C10_HUMAN	chromosome 12 open reading frame 57	94										kidney(1)|large_intestine(1)	2						AGGATCCTGAGATCGCCAGCC	0.617000													8	26					0	0	0.003080	0	0
NACA	4666	broad.mit.edu	37	12	57108149	57108149	+	Silent	SNP	C	C	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:57108149C>A	ENST00000454682.1	-	5	6101	c.5820G>T	c.(5818-5820)cgG>cgT	p.R1940R	NACA_ENST00000551793.1_5'UTR|NACA_ENST00000393891.4_Silent_p.R77R|NACA_ENST00000550952.1_Silent_p.R787R|NACA_ENST00000552540.1_Silent_p.R77R|NACA_ENST00000548563.1_5'UTR|NACA_ENST00000546392.1_Silent_p.R77R|NACA_ENST00000356769.3_Silent_p.R77R	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	77					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						ATCTTACCTTCCGTGCCTTCT	0.398000			T	BCL6	NHL								10	47					4.68919e-08	4.96502e-08	0.008291	1	0
ABCA2	20	broad.mit.edu	37	9	139910547	139910547	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr9:139910547C>T	ENST00000265662.5	-	22	3331	c.3184G>A	c.(3184-3186)Gag>Aag	p.E1062K	ABCA2_ENST00000371605.3_Missense_Mutation_p.E1061K|ABCA2_ENST00000341511.6_Missense_Mutation_p.E1062K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1061	ABC transporter 1.				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)		TTGCGGATCTCATCCATCTCC	0.612000													31	63					0	0	0.003271	0	0
SLTM	79811	broad.mit.edu	37	15	59181735	59181735	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr15:59181735C>T	ENST00000380516.2	-	16	2185	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K	SLTM_ENST00000536328.1_Missense_Mutation_p.E269K	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	700	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCAATCCGTTCAGCTTCCTTA	0.408000													14	23					0	0	0.001855	0	0
NACA	4666	broad.mit.edu	37	12	57112459	57112459	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr12:57112459C>T	ENST00000454682.1	-	3	3136	c.2855G>A	c.(2854-2856)gGa>gAa	p.G952E	NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGCTGGGCCTCCTTTAGGGGA	0.642000			T	BCL6	NHL								18	53					0	0	0.006122	0	0
LOC494141	494141	broad.mit.edu	37	11	18231217	18231217	+	Translation_Start_Site	SNP	G	G	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:18231217G>T	ENST00000527059.1	+	1	463	c.3G>T	c.(1-3)atG>atT	p.M1I	RP11-113D6.10_ENST00000340135.3_Start_Codon_SNP_p.M1I|RP11-113D6.10_ENST00000534640.1_Start_Codon_SNP_p.M1I																							AGTCCTTCATGAAAAAAGAAG	0.333000													9	16					1.12685e-05	1.17121e-05	0.004482	1	0
ENAM	10117	broad.mit.edu	37	4	71508386	71508409	+	In_Frame_Del	DEL	ACTACTGTTGCCCCACTGGGTCCC	ACTACTGTTGCCCCACTGGGTCCC	-	rs111931241		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr4:71508386_71508409delACTACTGTTGCCCCACTGGGTCCC	ENST00000396073.3	+	9	1524_1547	c.1243_1266delACTACTGTTGCCCCACTGGGTCCC	c.(1243-1266)del	p.TTVAPLGP415del	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	415					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CCCTGTAGGAACTACTGTTGCCCCACTGGGTCCCAAACCTGGCC	0.451													9	94	---	---	---	---					
SLC39A7	7922	broad.mit.edu	37	6	33169037	33169037	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:33169037delG	ENST00000374677.3	+	1	388	c.15delG	c.(13-15)ctfs	p.L5fs	SLC39A7_ENST00000374675.3_Frame_Shift_Del_p.L5fs	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	5						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	p.A7fs*10(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CCAGAGGCCTGGGGGCCCCCC	0.637													8	156	---	---	---	---					
UHRF1BP1	54887	broad.mit.edu	37	6	34839418	34839419	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr6:34839418_34839419insT	ENST00000192788.5	+	19	4210_4211	c.4039_4040insT	c.(4039-4041)ggafs	p.G1347fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.G1347fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1347										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CACTCTGGCCATGGAACATGTT	0.525													21	38	---	---	---	---					
ZNF107	51427	broad.mit.edu	37	7	64168926	64168927	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr7:64168926_64168927insA	ENST00000395391.1	+	4	3619_3620	c.2244_2245insA	c.(2242-2247)taaatgfs	p.M749fs	ZNF107_ENST00000423627.1_Frame_Shift_Ins_p.M749fs|ZNF107_ENST00000344930.3_Frame_Shift_Ins_p.M749fs			Q9UII5	ZN107_HUMAN	zinc finger protein 107	749					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AGAAACCCTACAAATGTGGAGA	0.361													13	19	---	---	---	---					
OR4A47	403253	broad.mit.edu	37	11	48510865	48510866	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr11:48510865_48510866insT	ENST00000446524.1	+	1	597_598	c.521_522insT	c.(520-522)cttfs	p.L174fs		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GTCATTGATCATTTTTTCTGTG	0.465													11	172	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													6	6	---	---	---	---					
ZNF750	79755	broad.mit.edu	37	17	80790179	80790179	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr17:80790179delT	ENST00000269394.3	-	2	985	c.152delA	c.(151-153)acfs	p.N51fs	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	51						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGTAATCGAGTTTTTACAAAG	0.433													46	50	---	---	---	---					
STK11	6794	broad.mit.edu	37	19	1221270	1221270	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ecfc9472-89ce-448e-88a2-a55357fc481f	g.chr19:1221270delG	ENST00000326873.7	+	6	1966	c.793delG	c.(793-795)agfs	p.E265fs		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	265	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)|p.Y246fs*3(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGTTGTTTGAGAACATCGG	0.597		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			5	8	---	---	---	---					
ENAM	10117	broad.mit.edu	37	4	71508386	71508409	+	In_Frame_Del	DEL	ACTACTGTTGCCCCACTGGGTCCC	ACTACTGTTGCCCCACTGGGTCCC	-	rs111931241		TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr4:71508386_71508409delACTACTGTTGCCCCACTGGGTCCC	ENST00000396073.3	+	9	1524_1547	c.1243_1266delACTACTGTTGCCCCACTGGGTCCC	c.(1243-1266)del	p.TTVAPLGP415del	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	415					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CCCTGTAGGAACTACTGTTGCCCCACTGGGTCCCAAACCTGGCC	0.451													9	94	---	---	---	---					
SLC39A7	7922	broad.mit.edu	37	6	33169037	33169037	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr6:33169037delG	ENST00000374677.3	+	1	388	c.15delG	c.(13-15)ctfs	p.L5fs	SLC39A7_ENST00000374675.3_Frame_Shift_Del_p.L5fs	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	5						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	p.A7fs*10(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CCAGAGGCCTGGGGGCCCCCC	0.637													8	156	---	---	---	---					
UHRF1BP1	54887	broad.mit.edu	37	6	34839418	34839419	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr6:34839418_34839419insT	ENST00000192788.5	+	19	4210_4211	c.4039_4040insT	c.(4039-4041)ggafs	p.G1347fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.G1347fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1347										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CACTCTGGCCATGGAACATGTT	0.525													21	38	---	---	---	---					
ZNF107	51427	broad.mit.edu	37	7	64168926	64168927	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr7:64168926_64168927insA	ENST00000395391.1	+	4	3619_3620	c.2244_2245insA	c.(2242-2247)taaatgfs	p.M749fs	ZNF107_ENST00000423627.1_Frame_Shift_Ins_p.M749fs|ZNF107_ENST00000344930.3_Frame_Shift_Ins_p.M749fs			Q9UII5	ZN107_HUMAN	zinc finger protein 107	749					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AGAAACCCTACAAATGTGGAGA	0.361													13	19	---	---	---	---					
OR4A47	403253	broad.mit.edu	37	11	48510865	48510866	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr11:48510865_48510866insT	ENST00000446524.1	+	1	597_598	c.521_522insT	c.(520-522)cttfs	p.L174fs		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GTCATTGATCATTTTTTCTGTG	0.465													11	172	---	---	---	---					
ZNF750	79755	broad.mit.edu	37	17	80790179	80790179	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr17:80790179delT	ENST00000269394.3	-	2	985	c.152delA	c.(151-153)acfs	p.N51fs	TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	51						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGTAATCGAGTTTTTACAAAG	0.433													46	50	---	---	---	---					
STK11	6794	broad.mit.edu	37	19	1221270	1221270	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6961-01A-21D-1912-08	TCGA-CV-6961-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92d3315c-179c-47f6-b61e-9945f6988e1c	ea8183de-8f9b-4d30-a23b-c6ffc183f22b	g.chr19:1221270delG	ENST00000326873.7	+	6	1966	c.793delG	c.(793-795)agfs	p.E265fs		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	265	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)|p.Y246fs*3(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGTTGTTTGAGAACATCGG	0.597		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			5	8	---	---	---	---					
