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
PLCZ1	89869	broad.mit.edu	37	12	18847863	18847863	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:18847863G>T	ENST00000266505.7	-	12	1705	c.1442C>A	c.(1441-1443)cCa>cAa	p.P481Q	PLCZ1_ENST00000435379.1_Missense_Mutation_p.P286Q|PLCZ1_ENST00000447925.2_Missense_Mutation_p.P479Q|PLCZ1_ENST00000539875.1_Missense_Mutation_p.P288Q|PLCZ1_ENST00000541695.1_Missense_Mutation_p.P344Q|PLCZ1_ENST00000534932.1_Intron|PLCZ1_ENST00000538330.1_Missense_Mutation_p.P263Q			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	481	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AAGTGTAATTGGCATACCCTC	0.269000													4	38					1.23904e-05	1.39132e-05	0.014758	1	0
CCNF	899	broad.mit.edu	37	16	2493727	2493727	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr16:2493727G>T	ENST00000397066.4	+	9	943	c.855G>T	c.(853-855)caG>caT	p.Q285H		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	285					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				TCGTCTGCCAGCTATTTCAGG	0.502000													6	69					0.0215528	0.0221026	0.021553	1	0
UNC93A	54346	broad.mit.edu	37	6	167708122	167708122	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr6:167708122G>T	ENST00000230256.3	+	2	380	c.205G>T	c.(205-207)Ggg>Tgg	p.G69W	UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.G69W	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	69						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGGCTGCAAGGGGACCATCAT	0.652000													14	190					6.72482e-11	7.99816e-11	0.024245	1	0
GPR142	350383	broad.mit.edu	37	17	72368126	72368126	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:72368126C>A	ENST00000335666.4	+	4	824	c.776C>A	c.(775-777)gCc>gAc	p.A259D		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	259						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CGCTACACTGCCCTGTGCCAC	0.682000													4	31					0.00024832	0.000272745	0.009096	1	0
CCT8L2	150160	broad.mit.edu	37	22	17071848	17071848	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr22:17071848C>A	ENST00000359963.3	-	1	1852	c.1593G>T	c.(1591-1593)gaG>gaT	p.E531D		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	531					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	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)				GATTCCAGATCTCCTGATGTG	0.438000													31	108					4.4194e-11	5.31916e-11	0.013726	1	0
IMPG2	50939	broad.mit.edu	37	3	100962722	100962722	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:100962722A>G	ENST00000193391.7	-	13	2640	c.2453T>C	c.(2452-2454)tTg>tCg	p.L818S		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	818					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GGTTGGAGGCAATTTGGTAGA	0.448000													12	92					0	0	0.013537	0	0
FLG2	388698	broad.mit.edu	37	1	152327955	152327955	+	Silent	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.						calcium ion binding|structural molecule activity	p.S769S(1)		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)			GTTGGCCATAGCTAGACTGAC	0.517000													23	411					0	0	0.018920	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315990	30315990	+	Silent	SNP	C	C	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:30315990C>G	ENST00000375377.1	-	3	3188	c.3087G>C	c.(3085-3087)ggG>ggC	p.G1029G		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1029										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GGAGCCCTGCCCCCCTCTCTC	0.587000													27	96					0	0	0.027356	0	0
LGALS4	3960	broad.mit.edu	37	19	39292682	39292682	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:39292682C>T	ENST00000307751.4	-	9	1252	c.775G>A	c.(775-777)Gag>Aag	p.E259K		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	259	Beta-galactoside binding (By similarity).|Galectin 2.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TTCTTCTCCTCGGATCCCCAC	0.567000													15	77					0	0	0.028581	0	0
DHRS11	79154	broad.mit.edu	37	17	34954655	34954655	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:34954655G>A	ENST00000251312.5	+	3	633	c.421G>A	c.(421-423)Gtg>Atg	p.V141M	DHRS11_ENST00000590554.1_Missense_Mutation_p.V62M	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	141						extracellular region	binding|oxidoreductase activity			endometrium(1)|lung(4)	5						GGAGCGGAATGTGGACGATGG	0.587000													12	87					0	0	0.013537	0	0
GC	2638	broad.mit.edu	37	4	72620734	72620734	+	Silent	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr4:72620734G>A	ENST00000273951.8	-	9	1468	c.1125C>T	c.(1123-1125)tgC>tgT	p.C375C	GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Silent_p.C375C|GC_ENST00000504199.1_Silent_p.C394C	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	375	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	CAACATCACAGCATTCACCAA	0.378000													11	48					0	0	0.010729	0	0
WDR96	80217	broad.mit.edu	37	10	105967445	105967445	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:105967445C>A	ENST00000357060.3	-	6	988	c.873G>T	c.(871-873)aaG>aaT	p.K291N	WDR96_ENST00000428666.1_Missense_Mutation_p.K291N|WDR96_ENST00000278064.2_Missense_Mutation_p.K221N|WDR96_ENST00000369719.1_Missense_Mutation_p.K221N|WDR96_ENST00000369720.1_Missense_Mutation_p.K221N	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	291										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCTCTTCTATCTTATTAAGTA	0.393000													13	98					0.00010058	0.000111694	0.013537	1	0
MACF1	23499	broad.mit.edu	37	1	39854052	39854052	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:39854052G>T	ENST00000564288.1	+	58	16315	c.15538G>T	c.(15538-15540)Gaa>Taa	p.E5180*	MACF1_ENST00000545844.1_Nonsense_Mutation_p.E3118*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.E5217*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.E3620*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.E3118*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.E3097*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.E3118*|MACF1_ENST00000372915.3_Nonsense_Mutation_p.E5185*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5185					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAGGCCTCTGAAGCAGAGTG	0.468000													5	40					1.23904e-05	1.39132e-05	0.014758	1	0
WDR13	64743	broad.mit.edu	37	X	48457988	48457988	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:48457988G>A	ENST00000218056.5	+	4	911	c.406G>A	c.(406-408)Gtg>Atg	p.V136M	WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	136						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CCCTGGCAGCGTGGTGCCCAC	0.617000													15	98					0	0	0.028581	0	0
ZNF790	388536	broad.mit.edu	37	19	37310699	37310699	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:37310699A>G	ENST00000356725.4	-	5	667	c.547T>C	c.(547-549)Tca>Cca	p.S183P	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTATGATCTGAACCAGAAATA	0.348000													11	67					0	0	0.008291	0	0
HTR1F	3355	broad.mit.edu	37	3	88040986	88040986	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:88040986C>T	ENST00000319595.4	+	1	1141	c.1087C>T	c.(1087-1089)Cga>Tga	p.R363*		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	363					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	AAAGCTTGTGCGATGTCGATG	0.338000													13	53					0	0	0.016723	0	0
APOB	338	broad.mit.edu	37	2	21233595	21233595	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr2:21233595G>A	ENST00000233242.1	-	26	6272	c.6145C>T	c.(6145-6147)Ccc>Tcc	p.P2049S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2049	Heparin-binding.				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)	AATTCTTGGGGCTTCTCAACG	0.373000													11	133					0	0	0.010729	0	0
MME	4311	broad.mit.edu	37	3	154890356	154890356	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:154890356C>T	ENST00000460393.1	+	22	2228	c.2108C>T	c.(2107-2109)gCg>gTg	p.A703V	MME_ENST00000462745.1_Missense_Mutation_p.A703V|MME_ENST00000493237.1_Missense_Mutation_p.A703V|MME_ENST00000360490.2_Missense_Mutation_p.A703V|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000492661.1_Missense_Mutation_p.A703V	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	703					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CCAGAGTATGCGGTTAACTCC	0.428000													13	128					0	0	0.006122	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768196	140768196	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr5:140768196G>T	ENST00000519479.1	+	1	745	c.745G>T	c.(745-747)Gtg>Ttg	p.V249L	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTATACAGGGTGAGCCTTTC	0.517000													22	137					6.21321e-17	7.70898e-17	0.016522	1	0
MYH1	4619	broad.mit.edu	37	17	10399767	10399767	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:10399767C>A	ENST00000226207.5	-	34	4850	c.4756G>T	c.(4756-4758)Gaa>Taa	p.E1586*	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1586						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGTCAATTTCCTCATCTTTT	0.453000													22	87					4.35082e-09	5.11412e-09	0.010504	1	0
UBE4B	10277	broad.mit.edu	37	1	10132157	10132157	+	Silent	SNP	C	C	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:10132157C>A	ENST00000343090.6	+	2	171	c.96C>A	c.(94-96)ccC>ccA	p.P32P	UBE4B_ENST00000253251.8_Silent_p.P32P|UBE4B_ENST00000377153.1_Silent_p.P32P|UBE4B_ENST00000377157.3_5'UTR	NM_001105562.2	NP_001099032.1	O95155	UBE4B_HUMAN	ubiquitination factor E4B	32					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TCACCTCTCCCCAGAGGGAGA	0.597000													17	47					1.33834e-09	1.58239e-09	0.007413	1	0
BICC1	80114	broad.mit.edu	37	10	60461890	60461890	+	Silent	SNP	C	C	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:60461890C>A	ENST00000373886.3	+	3	298	c.294C>A	c.(292-294)gcC>gcA	p.A98A		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	98					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AGATCGGAGCCAAATCCAAGA	0.373000													6	33					0.00116845	0.00124263	0.021553	1	0
LRP12	29967	broad.mit.edu	37	8	105521200	105521200	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr8:105521200A>G	ENST00000276654.5	-	3	347	c.239T>C	c.(238-240)aTa>aCa	p.I80T	LRP12_ENST00000424843.2_Missense_Mutation_p.I61T	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	80	CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTTTGCCCTTATGAACCAGCT	0.368000													7	82					0	0	0.003080	0	0
TENM2	57451	broad.mit.edu	37	5	167645811	167645811	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr5:167645811C>T	ENST00000519204.1	+	22	4670	c.4552C>T	c.(4552-4554)Cgt>Tgt	p.R1518C	TENM2_ENST00000403607.2_Missense_Mutation_p.R1463C|TENM2_ENST00000520394.1_Missense_Mutation_p.R1400C|TENM2_ENST00000545108.1_Missense_Mutation_p.R1638C|TENM2_ENST00000518659.1_Missense_Mutation_p.R1639C					teneurin transmembrane protein 2																		CCTGAAGATCCGTCGGGACAG	0.507000													18	93					0	0	0.004990	0	0
PCDH7	5099	broad.mit.edu	37	4	30723146	30723146	+	Silent	SNP	C	C	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr4:30723146C>G	ENST00000361762.2	+	1	1110	c.102C>G	c.(100-102)ctC>ctG	p.L34L	PCDH7_ENST00000543491.1_Silent_p.L34L	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	34	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AGCAGCTCCTCCGGTACCGGC	0.711000													8	13					0	0	0.003080	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870578	51870578	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr20:51870578C>T	ENST00000371497.5	+	2	1468	c.581C>T	c.(580-582)tCg>tTg	p.S194L	TSHZ2_ENST00000603338.2_Missense_Mutation_p.S191L|TSHZ2_ENST00000329613.6_Missense_Mutation_p.S191L	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	194					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTGTTCAGCTCGGTGCAGTTG	0.562000													8	40					0	0	0.004482	0	0
LRMP	4033	broad.mit.edu	37	12	25259893	25259893	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:25259893G>T	ENST00000354454.3	+	20	1994	c.1165G>T	c.(1165-1167)Gag>Tag	p.E389*	LRMP_ENST00000547044.1_Nonsense_Mutation_p.E389*|LRMP_ENST00000548766.1_Nonsense_Mutation_p.E389*	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	445					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					AGATGACTCAGAGCCATCTGG	0.303000													5	33					0.0215528	0.0221026	0.021553	1	0
NPAS4	266743	broad.mit.edu	37	11	66191816	66191816	+	Silent	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:66191816G>A	ENST00000311034.2	+	7	1631	c.1455G>A	c.(1453-1455)ctG>ctA	p.L485L		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	485					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTAGCCCACTGCAAGGCCAGT	0.557000													136	217					0	0	0.014410	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90500809	90500809	+	Silent	SNP	A	A	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr9:90500809A>C	ENST00000325643.5	+	4	1473	c.1407A>C	c.(1405-1407)gtA>gtC	p.V469V		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CACACTCTGTACCACTGGATA	0.582000													21	205					0	0	0.014323	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			26	47					0	0	0.018920	0	0
UBC	7316	broad.mit.edu	37	12	125398024	125398024	+	Silent	SNP	G	G	A	rs1138413		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:125398024G>A	ENST00000536769.1	-	1	1870	c.294C>T	c.(292-294)acC>acT	p.T98T	UBC_ENST00000546120.1_Silent_p.T98T|UBC_ENST00000339647.5_Silent_p.T98T|UBC_ENST00000538617.1_Silent_p.T98T			P0CG48	UBC_HUMAN	ubiquitin C	98	Ubiquitin-like 2.				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|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CGTTCTCGATGGTGTCACTGG	0.562000													8	202					0	0	0.006214	0	0
GPR64	10149	broad.mit.edu	37	X	19039220	19039220	+	Splice_Site	SNP	A	A	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:19039220A>G	ENST00000354791.3	-	13	837		c.e13+1		GPR64_ENST00000340581.3_Splice_Site|GPR64_ENST00000356606.4_Splice_Site|GPR64_ENST00000357991.3_Splice_Site|GPR64_ENST00000379873.2_Splice_Site|GPR64_ENST00000360279.4_Splice_Site|GPR64_ENST00000379869.3_Splice_Site|GPR64_ENST00000379878.3_Splice_Site|GPR64_ENST00000379876.1_Splice_Site|GPR64_ENST00000357544.3_Splice_Site			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64						neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TAGACAACTTACCCATTGGTC	0.284000													4	68					0	0	0.009096	0	0
CTD-3099C6.5	0	broad.mit.edu	37	19	53015473	53015473	+	RNA	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:53015473G>A	ENST00000599143.1	-	0	122																											CACAGATCACGCCTTAAAAGA	0.403000													10	59					0	0	0.006214	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72020216	72020216	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:72020216C>A	ENST00000378743.3	-	22	4499	c.4141G>T	c.(4141-4143)Gaa>Taa	p.E1381*		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1381					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCCAAGGATTCTGAGCACTCC	0.353000													16	54					4.7546e-09	5.55625e-09	0.028581	1	0
SNHG14	104472715	broad.mit.edu	37	15	25470243	25470243	+	RNA	SNP	C	C	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr15:25470243C>A	ENST00000453082.2	+	0	1011					NR_003343.1																						ACCCCCGATGCGCTGAAGCTC	0.607000													19	37					5.3912e-06	6.12221e-06	0.006122	1	0
PCDHGA5	56110	broad.mit.edu	37	5	140745472	140745472	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr5:140745472G>C	ENST00000518069.1	+	1	1575	c.1575G>C	c.(1573-1575)ttG>ttC	p.L525F	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAGCAGTTGAGAGACCTAC	0.527000													19	146					0	0	0.010504	0	0
HECTD4	283450	broad.mit.edu	37	12	112681213	112681213	+	Silent	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:112681213G>A	ENST00000550722.1	-	32	4859	c.4464C>T	c.(4462-4464)gtC>gtT	p.V1488V	HECTD4_ENST00000430131.2_Silent_p.V1212V|HECTD4_ENST00000377560.5_Silent_p.V1462V	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TCACTCCCCCGACTCGTACGG	0.547000													5	13					0	0	0.014758	0	0
HPS1	3257	broad.mit.edu	37	10	100195167	100195167	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:100195167C>G	ENST00000325103.6	-	5	493	c.260G>C	c.(259-261)gGa>gCa	p.G87A	HPS1_ENST00000338546.5_Missense_Mutation_p.G87A|HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Missense_Mutation_p.G87A	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	87					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CAGGCATTCTCCAAACTGCAG	0.597000									Hermansky-Pudlak syndrome				5	55					0	0	0.014758	0	0
CA10	56934	broad.mit.edu	37	17	49710870	49710870	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:49710870G>C	ENST00000451037.2	-	8	1871	c.931C>G	c.(931-933)Cca>Gca	p.P311A	CA10_ENST00000570565.1_Missense_Mutation_p.P236A|CA10_ENST00000442502.2_Missense_Mutation_p.P311A|CA10_ENST00000340813.6_Missense_Mutation_p.P317A|CA10_ENST00000285273.4_Missense_Mutation_p.P311A	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	311					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			CGGTTGTTTGGACAGTCCTTC	0.507000													16	53					0	0	0.008871	0	0
DOCK11	139818	broad.mit.edu	37	X	117815169	117815169	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:117815169G>C	ENST00000276204.6	+	50	5894	c.5820G>C	c.(5818-5820)atG>atC	p.M1940I	DOCK11_ENST00000276202.7_Missense_Mutation_p.M1940I			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1940	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ACGTGGACATGATTCAGCTCC	0.373000													29	86					0	0	0.009535	0	0
THOC2	57187	broad.mit.edu	37	X	122837338	122837338	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:122837338C>T	ENST00000245838.8	-	4	271	c.240G>A	c.(238-240)atG>atA	p.M80I	THOC2_ENST00000355725.4_Missense_Mutation_p.M80I	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	80					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						GAATGGAGGGCATATCCTCAC	0.308000													5	80					0	0	0.021553	0	0
TMEM131	23505	broad.mit.edu	37	2	98411468	98411468	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr2:98411468A>C	ENST00000186436.5	-	29	3539	c.3311T>G	c.(3310-3312)tTa>tGa	p.L1104*		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1104						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						ACAGGTTGCTAACATATGGTA	0.403000													11	22					0	0	0.010729	0	0
SLC30A10	55532	broad.mit.edu	37	1	220088985	220088985	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:220088985G>C	ENST00000366926.3	-	4	1425	c.1264C>G	c.(1264-1266)Ctg>Gtg	p.L422V	SLC30A10_ENST00000536446.1_Missense_Mutation_p.L177V|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	422					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		ACGTGAGCCAGAGGCAGTGCC	0.567000													31	61					0	0	0.009535	0	0
ZNF239	8187	broad.mit.edu	37	10	44052206	44052206	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:44052206C>A	ENST00000306006.6	-	2	1974	c.1322G>T	c.(1321-1323)aGc>aTc	p.S441I	ZNF239_ENST00000535642.1_Missense_Mutation_p.S441I|ZNF239_ENST00000374446.2_Missense_Mutation_p.S441I|ZNF239_ENST00000426961.1_Missense_Mutation_p.S441I	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGAGCTCTGGCTGAAGCCCTT	0.502000													5	28					0.00116845	0.00124263	0.021553	1	0
DOPEY1	23033	broad.mit.edu	37	6	83834483	83834483	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr6:83834483T>A	ENST00000349129.2	+	13	1660	c.1400T>A	c.(1399-1401)tTa>tAa	p.L467*	DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.L458*|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.L458*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	467					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCATCTGAATTACAGCTGACC	0.368000													13	164					0	0	0.024245	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256490	140256490	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr5:140256490C>T	ENST00000398631.2	+	1	1433	c.1433C>T	c.(1432-1434)tCg>tTg	p.S478L	PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCACGGTGTCGGCATGGGAC	0.657000													10	86					0	0	0.008291	0	0
TRIOBP	11078	broad.mit.edu	37	22	38165092	38165092	+	Silent	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr22:38165092G>A	ENST00000406386.3	+	20	6888	c.6633G>A	c.(6631-6633)caG>caA	p.Q2211Q	RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000403663.2_Silent_p.Q498Q	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2211					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGTACTCGCAGAAGTGCCTGG	0.637000													16	52					0	0	0.004990	0	0
KMT2D	8085	broad.mit.edu	37	12	49443617	49443617	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:49443617G>A	ENST00000301067.7	-	11	3753	c.3754C>T	c.(3754-3756)Cga>Tga	p.R1252*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCCTCATCTCGGGCTGGACTA	0.597000													24	96					0	0	0.021523	0	0
LINC00471	151477	broad.mit.edu	37	2	232378246	232378246	+	RNA	SNP	T	T	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr2:232378246T>C	ENST00000313064.2	-	0	355					NR_024079.1																						ACCTCATCTCTACTGCCATTG	0.363000													8	72					0	0	0.004482	0	0
ASTN2	23245	broad.mit.edu	37	9	119976991	119976991	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr9:119976991G>C	ENST00000313400.4	-	3	761	c.661C>G	c.(661-663)Ctg>Gtg	p.L221V	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.L221V|ASTN2_ENST00000373996.3_Missense_Mutation_p.L221V			O75129	ASTN2_HUMAN	astrotactin 2	221						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GTGAACACCAGCAGCAGCAGC	0.602000													3	45					0	0	0.004672	0	0
OR1L4	254973	broad.mit.edu	37	9	125486388	125486388	+	Silent	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr9:125486388G>A	ENST00000259466.1	+	1	120	c.120G>A	c.(118-120)gcG>gcA	p.A40A		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A40A(1)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TACTCACTGCGGTGGGGAATG	0.517000													15	145					0	0	0.020292	0	0
CALCA	796	broad.mit.edu	37	11	14989343	14989343	+	Silent	SNP	T	T	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:14989343T>G	ENST00000361010.3	-	4	359	c.285A>C	c.(283-285)gcA>gcC	p.A95A	CALCA_ENST00000486207.1_Silent_p.A95A|CALCB_ENST00000523376.1_Intron	NM_001033953.2	NP_001029125.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	95					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	TCAGCAAGCCTGCCAGCCGAT	0.542000													10	75					0	0	0.006214	0	0
NUP93	9688	broad.mit.edu	37	16	56865770	56865770	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr16:56865770G>T	ENST00000564887.1	+	9	1362	c.733G>T	c.(733-735)Gaa>Taa	p.E245*	NUP93_ENST00000308159.5_Nonsense_Mutation_p.E368*|NUP93_ENST00000542526.1_Nonsense_Mutation_p.E245*|NUP93_ENST00000569842.1_Nonsense_Mutation_p.E368*	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	368					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CCCAGCTACGGAAAACAAGCT	0.493000													4	47					0.00909568	0.00942387	0.009096	1	0
IGKV3-20	28912	broad.mit.edu	37	2	89442213	89442213	+	RNA	SNP	A	A	G	rs61737744		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr2:89442213A>G	ENST00000492167.1	-	0	243																											GGAGCCTGGGAGCCTGGCCAG	0.582000													9	75					0	0	0.008291	0	0
MACF1	23499	broad.mit.edu	37	1	39854051	39854051	+	Silent	SNP	T	T	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:39854051T>A	ENST00000564288.1	+	58	16314	c.15537T>A	c.(15535-15537)tcT>tcA	p.S5179S	MACF1_ENST00000545844.1_Silent_p.S3117S|MACF1_ENST00000567887.1_Silent_p.S5216S|MACF1_ENST00000289893.4_Silent_p.S3619S|MACF1_ENST00000361689.2_Silent_p.S3117S|MACF1_ENST00000539005.1_Silent_p.S3096S|MACF1_ENST00000317713.7_Silent_p.S3117S|MACF1_ENST00000372915.3_Silent_p.S5184S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5184					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAGAGGCCTCTGAAGCAGAGT	0.468000													5	40					0	0	0.014758	0	0
ETS1	2113	broad.mit.edu	37	11	128354827	128354827	+	Silent	SNP	C	C	G	rs142070153	byFrequency	TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:128354827C>G	ENST00000392668.3	-	7	821	c.753G>C	c.(751-753)tcG>tcC	p.S251S	ETS1_ENST00000526145.1_Silent_p.S207S|ETS1_ENST00000319397.5_Silent_p.S207S|ETS1_ENST00000345075.4_Silent_p.S207S|ETS1_ENST00000531611.1_Silent_p.S207S|ETS1_ENST00000535549.1_Intron	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	207					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GGAGAATGACCGAGGGGTAGT	0.517000													27	55					0	0	0.027356	0	0
RYR3	6263	broad.mit.edu	37	15	34040341	34040341	+	Silent	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr15:34040341G>T	ENST00000389232.4	+	54	8086	c.8016G>T	c.(8014-8016)gcG>gcT	p.A2672A	RYR3_ENST00000415757.3_Silent_p.A2672A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2672	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.A2672A(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCTGGCCTGCGCGAGAGTCCC	0.522000													9	63					0.000442599	0.000478293	0.006214	1	0
HERC2	8924	broad.mit.edu	37	15	28459109	28459109	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr15:28459109C>T	ENST00000261609.7	-	42	6673	c.6565G>A	c.(6565-6567)Gag>Aag	p.E2189K		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2189					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)		AAGTAGTCCTCTAACTGGGCC	0.572000													4	27					0	0	0.009096	0	0
DYRK1B	9149	broad.mit.edu	37	19	40318983	40318983	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:40318983G>T	ENST00000593685.1	-	6	1229	c.761C>A	c.(760-762)gCc>gAc	p.A254D	DYRK1B_ENST00000323039.5_Missense_Mutation_p.A254D|DYRK1B_ENST00000597639.1_Missense_Mutation_p.A254D|DYRK1B_ENST00000430012.2_Missense_Mutation_p.A254D|DYRK1B_ENST00000348817.3_Missense_Mutation_p.A254D			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	254	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			AATCTTGATGGCGCTGCGCTT	0.622000													6	31					0.00307968	0.00324092	0.003080	1	0
ZNF644	84146	broad.mit.edu	37	1	91406244	91406244	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:91406244C>G	ENST00000370440.1	-	3	884	c.667G>C	c.(667-669)Gag>Cag	p.E223Q	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.E223Q|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCACCCACCTCTACTTGATTT	0.373000													35	171					0	0	0.017118	0	0
EPHA10	284656	broad.mit.edu	37	1	38227731	38227731	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:38227731C>G	ENST00000373048.4	-	3	195	c.196G>C	c.(196-198)Gaa>Caa	p.E66Q	EPHA10_ENST00000319637.6_Missense_Mutation_p.E66Q|EPHA10_ENST00000427468.2_Missense_Mutation_p.E66Q	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	66						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGGTCGTGTTCATCCACGCCG	0.617000													8	56					0	0	0.003080	0	0
USP17L2	377630	broad.mit.edu	37	8	11995148	11995148	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr8:11995148C>G	ENST00000333796.3	-	1	1438	c.1122G>C	c.(1120-1122)caG>caC	p.Q374H	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	374					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						ATTCACTCTTCTGGATGTAAA	0.517000													4	52					0	0	0.001984	0	0
BSX	390259	broad.mit.edu	37	11	122848470	122848470	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:122848470C>T	ENST00000343035.2	-	3	637	c.589G>A	c.(589-591)Gcc>Acc	p.A197T		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	197										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GCCTCGGCGGCGGTGGCGGCC	0.672000													3	27					0	0	0.009096	0	0
MED12	9968	broad.mit.edu	37	X	70347860	70347860	+	Silent	SNP	C	C	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:70347860C>G	ENST00000333646.6	+	22	3298	c.3099C>G	c.(3097-3099)acC>acG	p.T1033T	MED12_ENST00000374102.1_Silent_p.T1033T|MED12_ENST00000374080.3_Silent_p.T1033T	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1033					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CAGCTCACACCTTCACCTACA	0.527000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						7	68					0	0	0.004482	0	0
ELL	8178	broad.mit.edu	37	19	18632829	18632829	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:18632829A>G	ENST00000262809.4	-	1	108	c.37T>C	c.(37-39)Tcg>Ccg	p.S13P		NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	13					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		CGCCCGCACGACAGCCCGTAG	0.697000			T	MLL	AL								3	33					0	0	0.009096	0	0
MEIS3	56917	broad.mit.edu	37	19	47909780	47909780	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:47909780G>A	ENST00000331559.5	-	12	1610	c.1169C>T	c.(1168-1170)tCa>tTa	p.S390L	MEIS3_ENST00000559524.1_Missense_Mutation_p.S407L|MEIS3_ENST00000441740.2_Missense_Mutation_p.S344L|MEIS3_ENST00000561293.1_Missense_Mutation_p.S407L|MEIS3_ENST00000560253.1_Intron|MEIS3_ENST00000558555.1_Missense_Mutation_p.S361L|MEIS3_ENST00000561096.1_Missense_Mutation_p.S449L	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	361						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CATCCCCACTGATCCTGGAAG	0.507000													12	94					0	0	0.016723	0	0
LRIT1	26103	broad.mit.edu	37	10	85992510	85992510	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:85992510G>T	ENST00000372105.3	-	4	1066	c.1045C>A	c.(1045-1047)Ccg>Acg	p.P349T		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	349						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GTGGAAGTCGGTGGCTCAGTG	0.567000													3	35					0.004672	0.00486566	0.004672	1	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529	by1000genomes	TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677000													4	37					0	0	0.021553	0	0
UBE2Q1	55585	broad.mit.edu	37	1	154523418	154523418	+	Silent	SNP	T	T	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:154523418T>C	ENST00000292211.4	-	12	1312	c.1233A>G	c.(1231-1233)aaA>aaG	p.K411K		NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	411							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTCACCGTTTTTTTCGTGGA	0.532000													49	129					0	0	0.014410	0	0
IQGAP2	10788	broad.mit.edu	37	5	75906864	75906864	+	Silent	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr5:75906864C>T	ENST00000274364.6	+	13	1674	c.1377C>T	c.(1375-1377)taC>taT	p.Y459Y	IQGAP2_ENST00000396234.3_Silent_p.Y12Y|IQGAP2_ENST00000379730.3_Silent_p.Y18Y|IQGAP2_ENST00000502745.1_Silent_p.Y12Y	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	459					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CTGTAGGGTACATCAATGAAG	0.398000													8	57					0	0	0.006214	0	0
GSPT2	23708	broad.mit.edu	37	X	51486870	51486870	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:51486870C>T	ENST00000340438.4	+	1	390	c.148C>T	c.(148-150)Cgt>Tgt	p.R50C		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	50					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GGCTTTCAGCCGTAAGCTCAA	0.697000													10	38					0	0	0.008291	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998267	27998267	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:27998267G>C	ENST00000441525.1	-	1	1299	c.1185C>G	c.(1183-1185)tgC>tgG	p.C395W		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	395								p.C395C(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TGTACACAACGCAGGTGATGT	0.418000													24	81					0	0	0.024334	0	0
ATR	545	broad.mit.edu	37	3	142274981	142274981	+	Splice_Site	SNP	T	T	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:142274981T>C	ENST00000350721.4	-	10	2200	c.2078_splice	c.e10-1	p.I693_splice	ATR_ENST00000383101.3_Splice_Site_p.I629_splice	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	693					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGACTTTATCTCTGGGGAAAA	0.338000								Other conserved DNA damage response genes					9	80					0	0	0.004482	0	0
ELOVL3	83401	broad.mit.edu	37	10	103989006	103989006	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:103989006G>T	ENST00000370005.3	+	4	1031	c.810G>T	c.(808-810)caG>caT	p.Q270H		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	270					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		CCAAGAGCCAGTGAAGGTTTG	0.493000											OREG0020475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	41					0.004672	0.00486566	0.004672	1	0
PANX1	24145	broad.mit.edu	37	11	93911630	93911630	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:93911630G>C	ENST00000227638.3	+	3	802	c.417G>C	c.(415-417)ttG>ttC	p.L139F	PANX1_ENST00000436171.2_Missense_Mutation_p.L139F	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	139					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCTCAGACTTGAAGTTTATCA	0.493000													9	42					0	0	0.006214	0	0
FBP2	8789	broad.mit.edu	37	9	97346868	97346868	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr9:97346868G>C	ENST00000375337.3	-	3	483	c.417C>G	c.(415-417)atC>atG	p.I139M		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	139					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				CCTTTCTATAGATGGCAAAGA	0.493000													6	39					0	0	0.021553	0	0
RNASE12	493901	broad.mit.edu	37	14	21058750	21058750	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr14:21058750A>C	ENST00000556526.1	-	1	232	c.133T>G	c.(133-135)Tac>Gac	p.Y45D	RP11-14J7.6_ENST00000554993.1_RNA|RP11-14J7.6_ENST00000553604.1_RNA|RP11-14J7.6_ENST00000556487.1_RNA|RP11-14J7.6_ENST00000554529.1_RNA|AL163195.3_ENST00000555283.1_RNA	NM_001024822.2	NP_001019993.1	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	45						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		TGGTTGCAGTACCTTGCAGGA	0.443000													17	61					0	0	0.028581	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766752	77766752	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr8:77766752C>G	ENST00000521891.2	+	10	8043	c.7595C>G	c.(7594-7596)cCc>cGc	p.P2532R	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2506R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2487R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2487R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2487						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTGGAAAGGCCCATGGACATG	0.527000										HNSCC(33;0.089)			12	98					0	0	0.013537	0	0
KRT37	8688	broad.mit.edu	37	17	39577792	39577792	+	Silent	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:39577792G>A	ENST00000225550.3	-	6	1067	c.1068C>T	c.(1066-1068)ggC>ggT	p.G356G	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	356	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CCAGCTCTGTGCCGTAGCGGT	0.562000													22	39					0	0	0.016522	0	0
CHGB	1114	broad.mit.edu	37	20	5904039	5904039	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr20:5904039C>T	ENST00000378961.4	+	4	1453	c.1249C>T	c.(1249-1251)Cgc>Tgc	p.R417C		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	417			R -> H (in dbSNP:rs742711).			extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGGAAAGGGACGCCATCACAG	0.532000													6	67					0	0	0.021553	0	0
GABRA3	2556	broad.mit.edu	37	X	151336737	151336737	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:151336737C>A	ENST00000370314.4	-	10	1680	c.1442G>T	c.(1441-1443)cGg>cTg	p.R481L	RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Missense_Mutation_p.R481L|GABRA3_ENST00000370311.1_Missense_Mutation_p.R481L	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	481					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGCTGACTCCCGGTTGACATA	0.493000													8	88					5.18039e-06	5.95005e-06	0.003080	1	0
PCDH11X	27328	broad.mit.edu	37	X	91090649	91090649	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:91090649T>C	ENST00000373094.1	+	1	991	c.146T>C	c.(145-147)tTg>tCg	p.L49S	PCDH11X_ENST00000361655.2_Missense_Mutation_p.L49S|PCDH11X_ENST00000504220.1_Missense_Mutation_p.L49S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.L49S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.L49S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.L49S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.L49S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.L49S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.L49S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	49	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GACCTTAACTTGTCGCTGATT	0.473000													11	88					0	0	0.010729	0	0
FBXO18	84893	broad.mit.edu	37	10	5958323	5958323	+	Silent	SNP	T	T	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:5958323T>C	ENST00000379999.5	+	11	1949	c.1845T>C	c.(1843-1845)ttT>ttC	p.F615F	FBXO18_ENST00000362091.4_Silent_p.F564F|FBXO18_ENST00000397269.3_Silent_p.F51F|FBXO18_ENST00000379994.1_Silent_p.F301F	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	564					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AAAACTTCTTTGCCTCGGCTG	0.468000													6	98					0	0	0.001984	0	0
ITGAD	3681	broad.mit.edu	37	16	31419085	31419085	+	Splice_Site	SNP	A	A	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr16:31419085A>T	ENST00000389202.2	+	9	907		c.e9-1			NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D						cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCTCTGCTGCAGGTGGGACAC	0.622000													8	31					0	0	0.003080	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													4	62					0	0	0.021553	0	0
MB21D2	151963	broad.mit.edu	37	3	192516360	192516360	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:192516360G>A	ENST00000392452.2	-	2	1611	c.1291C>T	c.(1291-1293)Cga>Tga	p.R431*		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	431										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GTGCTACCTCGCCTCTGGAGC	0.607000													9	119					0	0	0.006214	0	0
SLC16A6	9120	broad.mit.edu	37	17	66268877	66268877	+	Silent	SNP	A	A	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:66268877A>G	ENST00000327268.4	-	5	572	c.408T>C	c.(406-408)acT>acC	p.T136T	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Silent_p.T136T	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	136						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GGATGGTTACAGTTGGGAGAA	0.423000													10	61					0	0	0.010729	0	0
VCAM1	7412	broad.mit.edu	37	1	101186049	101186049	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:101186049G>C	ENST00000294728.2	+	2	183	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	VCAM1_ENST00000370115.1_Missense_Mutation_p.E28Q|VCAM1_ENST00000347652.2_Missense_Mutation_p.E28Q|VCAM1_ENST00000370119.4_Missense_Mutation_p.E28Q	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	28	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.E28*(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTTTAAAATCGAGACCACCCC	0.413000													8	111					0	0	0.008291	0	0
RNF41	10193	broad.mit.edu	37	12	56604300	56604300	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:56604300G>A	ENST00000345093.4	-	4	512	c.143C>T	c.(142-144)tCt>tTt	p.S48F	RNF41_ENST00000552244.1_Missense_Mutation_p.S48F|RNF41_ENST00000552656.1_Missense_Mutation_p.S48F|RNF41_ENST00000394013.2_5'UTR	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41	48					apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						CTGTTGCTGAGAGAACCACTG	0.532000													12	38					0	0	0.020292	0	0
TTN	7273	broad.mit.edu	37	2	179592514	179592514	+	Silent	SNP	T	T	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr2:179592514T>C	ENST00000589042.1	-	68	20015	c.19791A>G	c.(19789-19791)ctA>ctG	p.L6597L	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.L6280L|TTN_ENST00000342992.6_Silent_p.L5353L|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6280	Ig-like 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGTTCCTTTTAGTATTGCCT	0.393000													16	157					0	0	0.028581	0	0
FGD5	152273	broad.mit.edu	37	3	14965561	14965561	+	Silent	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:14965561G>A	ENST00000285046.5	+	17	4094	c.3984G>A	c.(3982-3984)tcG>tcA	p.S1328S	FGD5_ENST00000543601.1_Silent_p.S1087S|FGD5-AS1_ENST00000430166.1_RNA|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1328					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCCGCTTCTCGGGCAGTGCCT	0.572000													8	53					0	0	0.004482	0	0
C15orf54	400360	broad.mit.edu	37	15	39544747	39544747	+	Silent	SNP	T	T	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr15:39544747T>G	ENST00000318578.3	+	2	779	c.411T>G	c.(409-411)cgT>cgG	p.R137R	RP11-624L4.1_ENST00000561058.1_RNA|C15orf54_ENST00000561223.1_Silent_p.R137R|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	137										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		CAACAAAGCGTGTGTGCACTA	0.473000													14	101					0	0	0.024245	0	0
CUBN	8029	broad.mit.edu	37	10	17126316	17126316	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:17126316T>A	ENST00000377833.4	-	17	2320	c.2255A>T	c.(2254-2256)cAc>cTc	p.H752L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	752	CUB 3.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGCTCCACGTGGGTGAAGTT	0.438000													7	62					0	0	0.003080	0	0
KRT71	112802	broad.mit.edu	37	12	52938396	52938396	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:52938396G>A	ENST00000267119.5	-	9	1561	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	498	Tail.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GCACTGCCCCGGCTCCTGCCC	0.622000													32	105					0	0	0.008361	0	0
TRIM71	131405	broad.mit.edu	37	3	32931948	32931948	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:32931948G>A	ENST00000383763.4	+	4	1315	c.1252G>A	c.(1252-1254)Gtg>Atg	p.V418M		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	418					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CATCAGTGCCGTGCAGCAGGT	0.597000													5	62					0	0	0.014758	0	0
KRTAP6-1	337966	broad.mit.edu	37	21	31986075	31986075	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr21:31986075C>A	ENST00000329122.2	-	1	174	c.149G>T	c.(148-150)gGc>gTc	p.G50V		NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	50						cytosol|intermediate filament				breast(2)|endometrium(1)|lung(7)	10						GGAGCCATAGCCATAGCCACA	0.592000													19	111					5.03518e-11	6.02424e-11	0.007413	1	0
ZNF569	148266	broad.mit.edu	37	19	37904514	37904514	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:37904514G>T	ENST00000316950.6	-	6	1603	c.1046C>A	c.(1045-1047)aCa>aAa	p.T349K	ZNF569_ENST00000392149.2_Missense_Mutation_p.T349K|ZNF569_ENST00000392150.2_Missense_Mutation_p.T190K	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTTTCTCCTGTATGACTTCT	0.368000													11	107					0.000978159	0.00105139	0.010729	1	0
PEG3	5178	broad.mit.edu	37	19	57325822	57325822	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:57325822G>T	ENST00000326441.9	-	10	4351	c.3988C>A	c.(3988-3990)Cca>Aca	p.P1330T	ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.P1206T|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.P1330T|PEG3_ENST00000593695.1_Missense_Mutation_p.P1204T	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1330					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCATAGAATGGTATAGCTCCT	0.423000													16	46					7.05477e-17	8.69943e-17	0.004990	1	0
LRIF1	55791	broad.mit.edu	37	1	111494331	111494331	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:111494331C>A	ENST00000369763.4	-	2	1565	c.1175G>T	c.(1174-1176)aGa>aTa	p.R392I	LRIF1_ENST00000485275.2_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CGTGTCTTTTCTTACTGGAGT	0.388000													33	237					2.08457e-15	2.55487e-15	0.010818	1	0
LOC101927079	101927079	broad.mit.edu	37	15	22332523	22332523	+	RNA	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr15:22332523G>T	ENST00000558896.1	+	0	330																											CATTGCTATTGTCCTGGGAAA	0.388000													23	244					2.32416e-17	2.90159e-17	0.014323	1	0
CYFIP1	23191	broad.mit.edu	37	15	22990179	22990179	+	Silent	SNP	G	G	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr15:22990179G>C	ENST00000313077.7	+	24	2924	c.2799G>C	c.(2797-2799)ctG>ctC	p.L933L	CYFIP1_ENST00000560848.1_Silent_p.L933L|CYFIP1_ENST00000435939.2_Silent_p.L502L	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	933					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)		TGGAGGAGCTGCTGAAGGTCG	0.582000													6	69					0	0	0.003080	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28734296	28734296	+	RNA	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr14:28734296G>T	ENST00000550043.1	+	0	701																											CATCGGATTGGGGATCTATAT	0.463000													12	28					4.3838e-07	5.09332e-07	0.016723	1	0
PAK1	5058	broad.mit.edu	37	11	77066805	77066805	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:77066805T>C	ENST00000356341.3	-	7	1211	c.680A>G	c.(679-681)aAt>aGt	p.N227S	PAK1_ENST00000278568.4_Missense_Mutation_p.N227S|PAK1_ENST00000530617.1_Missense_Mutation_p.N227S|PAK1_ENST00000525542.1_Intron|PAK1_ENST00000528203.1_Missense_Mutation_p.N129S	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	227	Interaction with CRIPAK.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					AGTGGTGTTATTTTCAGTAGG	0.443000													36	69					0	0	0.017118	0	0
MBOAT7	79143	broad.mit.edu	37	19	54677887	54677887	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:54677887G>A	ENST00000245615.1	-	8	1750	c.1270C>T	c.(1270-1272)Cgg>Tgg	p.R424W	MBOAT7_ENST00000338624.6_Missense_Mutation_p.R351W|MBOAT7_ENST00000431666.2_Missense_Mutation_p.R351W	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	424					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCCAGTACCGAAGGGTGTCG	0.647000													16	88					0	0	0.024245	0	0
NOP14	8602	broad.mit.edu	37	4	2954030	2954030	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr4:2954030T>C	ENST00000416614.2	-	6	907	c.842A>G	c.(841-843)gAa>gGa	p.E281G	NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000314262.6_Missense_Mutation_p.E281G|NOP14_ENST00000398071.4_Missense_Mutation_p.E281G|NOP14_ENST00000502735.1_Missense_Mutation_p.E281G			P78316	NOP14_HUMAN	NOP14 nucleolar protein	281					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CTCCTGCTCTTCCTTTGCCAA	0.567000													17	48					0	0	0.010504	0	0
TTLL4	9654	broad.mit.edu	37	2	219610493	219610493	+	Silent	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr2:219610493C>T	ENST00000392102.1	+	7	2206	c.1866C>T	c.(1864-1866)acC>acT	p.T622T	TTLL4_ENST00000457313.1_Silent_p.T457T|TTLL4_ENST00000442769.1_Silent_p.T622T|TTLL4_ENST00000258398.4_Silent_p.T622T	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	622	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TCAAGCAGACCATTGGACGGT	0.512000													4	24					0	0	0.014758	0	0
ALPK3	57538	broad.mit.edu	37	15	85401044	85401044	+	Silent	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr15:85401044G>A	ENST00000258888.5	+	6	3848	c.3681G>A	c.(3679-3681)caG>caA	p.Q1227Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1227					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)			ACCTGGTGCAGAGTGCACAGA	0.672000													13	35					0	0	0.028581	0	0
DIS3	22894	broad.mit.edu	37	13	73350163	73350163	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr13:73350163A>C	ENST00000377767.4	-	5	822	c.722T>G	c.(721-723)aTa>aGa	p.I241R	DIS3_ENST00000545453.1_Missense_Mutation_p.I79R|DIS3_ENST00000377780.4_Missense_Mutation_p.I211R	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	241					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ACCAGATTTTATGCCTTGCTG	0.358000										Multiple Myeloma(4;0.011)			10	28					0	0	0.010729	0	0
NXPH4	11247	broad.mit.edu	37	12	57619422	57619422	+	Silent	SNP	C	C	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:57619422C>A	ENST00000349394.5	+	2	994	c.819C>A	c.(817-819)ccC>ccA	p.P273P		NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	273	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						GTGCCAAGCCCTTCAAAGTCA	0.577000													18	49					5.3912e-06	6.12221e-06	0.006122	1	0
PLA2G4A	5321	broad.mit.edu	37	1	186909195	186909195	+	Silent	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:186909195C>T	ENST00000367466.3	+	10	1154	c.1002C>T	c.(1000-1002)gtC>gtT	p.V334V	PLA2G4A_ENST00000442353.2_Silent_p.V274V	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	334	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GTCTTCATGTCAAACCTGACG	0.418000													5	87					0	0	0.014758	0	0
ACTA2	59	broad.mit.edu	37	10	90707105	90707105	+	Silent	SNP	C	C	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:90707105C>G	ENST00000458208.1	-	3	642	c.168G>C	c.(166-168)gtG>gtC	p.V56V	STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000480297.1_5'UTR|ACTA2_ENST00000224784.6_Silent_p.V56V	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	56					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		CTTCGTCACCCACGTAGCTGT	0.473000													34	117					0	0	0.015359	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123201903	123201903	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr9:123201903C>T	ENST00000349780.4	-	24	3675	c.3496G>A	c.(3496-3498)Ggg>Agg	p.G1166R	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.G1125R|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.G1134R|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.G1166R	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1166	Interaction with MAPRE1.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						ATTTCTTCCCCATCAGAACCA	0.512000											OREG0019438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	42					0	0	0.006122	0	0
ATP2B1	490	broad.mit.edu	37	12	90010659	90010659	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:90010659C>T	ENST00000428670.3	-	12	2443	c.1987G>A	c.(1987-1989)Gag>Aag	p.E663K	ATP2B1_ENST00000348959.3_Missense_Mutation_p.E663K|ATP2B1_ENST00000359142.3_Missense_Mutation_p.E663K|ATP2B1_ENST00000393164.2_Missense_Mutation_p.E406K|ATP2B1_ENST00000261173.2_Missense_Mutation_p.E663K			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	663					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TTATCCCACTCTGGTTCTGGT	0.428000													22	131					0	0	0.027356	0	0
PC	5091	broad.mit.edu	37	11	66638327	66638327	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:66638327C>T	ENST00000393960.1	-	8	951	c.670G>A	c.(670-672)Gct>Act	p.A224T	PC_ENST00000393955.2_Missense_Mutation_p.A224T|PC_ENST00000524491.1_Missense_Mutation_p.A184T|PC_ENST00000355677.3_Missense_Mutation_p.A224T|PC_ENST00000393958.2_Missense_Mutation_p.A224T	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	224	ATP-grasp.|Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GCGGCCAGAGCCTCTGAGTAG	0.637000													35	214					0	0	0.012213	0	0
OAS1	4938	broad.mit.edu	37	12	113346624	113346624	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:113346624C>T	ENST00000452357.2	+	2	654	c.464C>T	c.(463-465)gCc>gTc	p.A155V	OAS1_ENST00000553185.1_Missense_Mutation_p.A155V|OAS1_ENST00000202917.5_Missense_Mutation_p.A155V|OAS1_ENST00000445409.2_Missense_Mutation_p.A155V|OAS1_ENST00000551241.1_Missense_Mutation_p.A155V|RP1-71H24.1_ENST00000552784.1_RNA	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	155	Necessary for binding to dsRNA.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GCCTTTGATGCCCTGGGTGAG	0.582000													12	106					0	0	0.024245	0	0
LBP	3929	broad.mit.edu	37	20	36975003	36975003	+	Silent	SNP	C	C	T	rs149360570		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr20:36975003C>T	ENST00000217407.2	+	1	245	c.84C>T	c.(82-84)ccC>ccT	p.P28P		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	28					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GTGCCAACCCCGGCTTGGTCG	0.612000													7	47					0	0	0.001984	0	0
SYNE1	23345	broad.mit.edu	37	6	152631904	152631904	+	Silent	SNP	T	T	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr6:152631904T>C	ENST00000367255.5	-	88	17416	c.16815A>G	c.(16813-16815)caA>caG	p.Q5605Q	SYNE1_ENST00000423061.1_Silent_p.Q5534Q|SYNE1_ENST00000341594.5_Silent_p.Q5217Q|SYNE1_ENST00000448038.1_Silent_p.Q5534Q|SYNE1_ENST00000265368.4_Silent_p.Q5605Q|SYNE1_ENST00000356820.4_Silent_p.Q129Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5605					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTCTGCCACTTGCTGAGACA	0.413000										HNSCC(10;0.0054)			15	20					0	0	0.020292	0	0
OR52N1	79473	broad.mit.edu	37	11	5809578	5809578	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:5809578G>T	ENST00000317078.1	-	1	468	c.469C>A	c.(469-471)Ctt>Att	p.L157I	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GGGATAACAAGCATCACACCC	0.507000													9	35					0.000442599	0.000478293	0.006214	1	0
PCDH11X	27328	broad.mit.edu	37	X	91090730	91090730	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:91090730G>A	ENST00000373094.1	+	1	1072	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	PCDH11X_ENST00000361655.2_Missense_Mutation_p.R76Q|PCDH11X_ENST00000504220.1_Missense_Mutation_p.R76Q|PCDH11X_ENST00000373097.1_Missense_Mutation_p.R76Q|PCDH11X_ENST00000361724.1_Missense_Mutation_p.R76Q|PCDH11X_ENST00000406881.1_Missense_Mutation_p.R76Q|PCDH11X_ENST00000298274.8_Missense_Mutation_p.R76Q|PCDH11X_ENST00000395337.2_Missense_Mutation_p.R76Q|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R76Q	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	76	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCACTGATTCGAATTGAAGAG	0.438000													21	141					0	0	0.016522	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													5	52					0	0	0.021553	0	0
LRRC14B	389257	broad.mit.edu	37	5	195405	195405	+	Silent	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr5:195405C>T	ENST00000328278.3	+	2	1510	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	494										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						TTGGTGCTTTCTTGCTGCAAG	0.473000													17	46					0	0	0.028581	0	0
F11	2160	broad.mit.edu	37	4	187208888	187208888	+	Nonsense_Mutation	SNP	G	G	T	rs142952627		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr4:187208888G>T	ENST00000264692.4	+	14	1804	c.1471G>T	c.(1471-1473)Gaa>Taa	p.E491*	F11_ENST00000403665.2_Nonsense_Mutation_p.E543*|RP11-215A19.1_ENST00000505103.1_RNA			P03951	FA11_HUMAN	coagulation factor XI	543	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	AGTGACCAACGAAGAGTGCCA	0.408000													8	68					0.000157383	0.000173813	0.003080	1	0
CCDC19	25790	broad.mit.edu	37	1	159842833	159842833	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:159842833C>T	ENST00000426543.2	-	11	1678	c.1223G>A	c.(1222-1224)cGg>cAg	p.R408Q	CCDC19_ENST00000368099.4_Missense_Mutation_p.R493Q|CCDC19_ENST00000476696.1_5'UTR			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	493						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GGTGGCAATCCGGTTCTGCAC	0.597000													6	77					0	0	0.021553	0	0
KCNC3	3748	broad.mit.edu	37	19	50826961	50826961	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:50826961G>A	ENST00000376959.2	-	2	1412	c.1249C>T	c.(1249-1251)Cgc>Tgc	p.R417C	KCNC3_ENST00000477616.1_Missense_Mutation_p.R417C|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	417					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CGGACGAAGCGGACCACCCGC	0.657000													10	31					0	0	0.008291	0	0
HIST1H3G	8355	broad.mit.edu	37	6	26271479	26271479	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr6:26271479C>A	ENST00000305910.3	-	1	133	c.134G>T	c.(133-135)gGc>gTc	p.G45V		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	45					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						AGCCACGGTGCCGGGACGGTA	0.642000													9	80					0.00010058	0.000111694	0.013537	1	0
SCN10A	6336	broad.mit.edu	37	3	38739930	38739930	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:38739930C>T	ENST00000449082.2	-	27	4780	c.4781G>A	c.(4780-4782)cGc>cAc	p.R1594H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1594					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GAGCAGTGTGCGGATCCCCTT	0.537000													8	90					0	0	0.006214	0	0
OR6N1	128372	broad.mit.edu	37	1	158735880	158735880	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:158735880A>G	ENST00000335094.2	-	1	612	c.593T>C	c.(592-594)gTa>gCa	p.V198A		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AACAAAATCTACTAGGACATT	0.483000													10	90					0	0	0.010729	0	0
SHC1	6464	broad.mit.edu	37	1	154938440	154938440	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:154938440G>A	ENST00000448116.2	-	10	1589	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	SHC1_ENST00000368445.5_Missense_Mutation_p.R456W|SHC1_ENST00000368450.1_Missense_Mutation_p.R346W|SHC1_ENST00000606391.1_Missense_Mutation_p.R257W|SHC1_ENST00000368449.4_Missense_Mutation_p.R227W|SHC1_ENST00000368453.4_Missense_Mutation_p.R347W	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	456	CH1.|Pro-rich.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.R347W(1)|p.R457W(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AACAGGTCCCGGGGTGCACTG	0.562000													26	91					0	0	0.006320	0	0
PPFIA1	8500	broad.mit.edu	37	11	70224267	70224267	+	Silent	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:70224267C>T	ENST00000253925.7	+	26	3731	c.3516C>T	c.(3514-3516)tcC>tcT	p.S1172S	AP000487.5_ENST00000500185.2_RNA|AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000530548.1_3'UTR|PPFIA1_ENST00000389547.3_Silent_p.S1172S	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1172					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTATGTCTTCCCCCTCTATGC	0.488000													20	215					0	0	0.016522	0	0
ZNF562	54811	broad.mit.edu	37	19	9764328	9764328	+	Missense_Mutation	SNP	A	A	G	rs61743320		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:9764328A>G	ENST00000448622.1	-	6	740	c.578T>C	c.(577-579)gTg>gCg	p.V193A	ZNF562_ENST00000541032.1_Missense_Mutation_p.V156A|ZNF562_ENST00000453372.2_Missense_Mutation_p.V193A|ZNF562_ENST00000293648.4_Missense_Mutation_p.V121A|ZNF562_ENST00000537617.1_Missense_Mutation_p.V77A|ZNF562_ENST00000590155.1_Missense_Mutation_p.V192A|ZNF562_ENST00000453792.2_Missense_Mutation_p.V124A	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						TTCAAGATGCACAGCAAGGCC	0.403000													8	65					0	0	0.003080	0	0
C8B	732	broad.mit.edu	37	1	57415426	57415426	+	Splice_Site	SNP	C	C	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:57415426C>A	ENST00000543257.1	-	7	1077		c.e7-1		C8B_ENST00000535057.1_Splice_Site|C8B_ENST00000371237.4_Splice_Site	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide						complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGCCTTGGGTCTAAAGAAGAA	0.368000													8	26					6.5536e-12	7.93538e-12	0.003080	1	0
MAP1B	4131	broad.mit.edu	37	5	71494067	71494067	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr5:71494067G>T	ENST00000296755.7	+	5	5183	c.4885G>T	c.(4885-4887)Gca>Tca	p.A1629S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1629						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)		CCCTAAAACTGCAAAGTCCAG	0.443000													7	102					0.00307968	0.00324092	0.003080	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274157	39274157	+	Silent	SNP	G	G	A	rs145503152		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:39274157G>A	ENST00000391413.2	-	1	449	c.411C>T	c.(409-411)ccC>ccT	p.P137P		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	137	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.P137P(3)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			tgctgcagctggggtggcagc	0.672000													7	22					0	0	0.001984	0	0
TAPBPL	55080	broad.mit.edu	37	12	6566666	6566666	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:6566666G>C	ENST00000266556.7	+	4	825	c.660G>C	c.(658-660)ttG>ttC	p.L220F	TAPBPL_ENST00000544021.1_Missense_Mutation_p.L143F|TAPBPL_ENST00000545700.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	220	Ig-like V-type.				antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						CACCGGGCTTGGACCTCATCA	0.622000													12	74					0	0	0.010729	0	0
CASR	846	broad.mit.edu	37	3	121980531	121980531	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:121980531G>A	ENST00000498619.1	+	4	1087	c.649G>A	c.(649-651)Gac>Aac	p.D217N	CASR_ENST00000490131.1_Missense_Mutation_p.D217N|CASR_ENST00000296154.5_Missense_Mutation_p.D217N	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	217					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGCTGATGACGACTATGGGCG	0.537000													10	127					0	0	0.006214	0	0
NAV3	89795	broad.mit.edu	37	12	78400890	78400890	+	Silent	SNP	C	C	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:78400890C>G	ENST00000397909.2	+	8	1745	c.1572C>G	c.(1570-1572)tcC>tcG	p.S524S	NAV3_ENST00000266692.7_Silent_p.S524S|NAV3_ENST00000536525.2_Silent_p.S524S|NAV3_ENST00000228327.6_Silent_p.S524S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	524						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTCCGTCTTCCAGTGGTATTC	0.448000										HNSCC(70;0.22)			13	69					0	0	0.016723	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													5	118					0	0	0.014758	0	0
OR10A2	341276	broad.mit.edu	37	11	6891559	6891559	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:6891559C>G	ENST00000307322.4	+	1	636	c.574C>G	c.(574-576)Ctg>Gtg	p.L192V		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CGGAACCATTCTGGTGGTCAT	0.502000													20	106					0	0	0.008871	0	0
CCDC138	165055	broad.mit.edu	37	2	109463283	109463283	+	Silent	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr2:109463283G>A	ENST00000295124.4	+	12	1473	c.1413G>A	c.(1411-1413)caG>caA	p.Q471Q	CCDC138_ENST00000412964.2_Silent_p.Q471Q	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	471										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						ATTCTCCACAGCATTCTGTGG	0.363000													4	69					0	0	0.009096	0	0
REPS2	9185	broad.mit.edu	37	X	17072947	17072947	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:17072947G>C	ENST00000357277.3	+	8	1159	c.988G>C	c.(988-990)Gac>Cac	p.D330H	REPS2_ENST00000303843.7_Missense_Mutation_p.D329H|REPS2_ENST00000380064.4_Missense_Mutation_p.D190H	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	330	EF-hand.|EH 2.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					TAGTGATGCTGACTGTGATGG	0.512000													8	83					0	0	0.006214	0	0
CNNM1	26507	broad.mit.edu	37	10	101090475	101090475	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:101090475C>G	ENST00000356713.4	+	1	1620	c.1331C>G	c.(1330-1332)tCa>tGa	p.S444*	CNNM1_ENST00000370534.4_Nonsense_Mutation_p.S79*|CNNM1_ENST00000370528.3_Nonsense_Mutation_p.S373*|CNNM1_ENST00000446890.1_Nonsense_Mutation_p.S373*	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	444	CBS 1.			S -> P (in Ref. 4; AAH98307).	ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		ATGCTGCGCTCAGACGCGGTG	0.612000													8	47					0	0	0.006214	0	0
HMGB3	3149	broad.mit.edu	37	X	150156302	150156302	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:150156302C>T	ENST00000325307.7	+	5	614	c.518C>T	c.(517-519)gCt>gTt	p.A173V	HMGB3_ENST00000448905.2_Missense_Mutation_p.A173V	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	173					DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.A173D(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					AAGGGTCCTGCTAAAGTTGCC	0.443000													5	84					0	0	0.021553	0	0
OR10H4	126541	broad.mit.edu	37	19	16060695	16060695	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:16060695G>A	ENST00000322107.1	+	1	878	c.878G>A	c.(877-879)aGc>aAc	p.S293N		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						ATCATTTTCAGCCTAAGGAAC	0.448000													44	95					0	0	0.014410	0	0
SLC13A1	6561	broad.mit.edu	37	7	122787224	122787224	+	Silent	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr7:122787224C>T	ENST00000194130.2	-	7	840	c.801G>A	c.(799-801)gaG>gaA	p.E267E	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	267						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TATTGAAATACTCTGCAAAGA	0.368000													4	25					0	0	0.014758	0	0
KLHL9	55958	broad.mit.edu	37	9	21333736	21333736	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr9:21333736G>A	ENST00000359039.4	-	1	1643	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	KLHL9_ENST00000537938.1_Missense_Mutation_p.R307W			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	375					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		p.R375W(1)		endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		TTATTATACCGAGGATCAAAT	0.383000													29	65					0	0	0.009535	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762772	130762772	+	Missense_Mutation	SNP	G	G	C	rs148429620		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr6:130762772G>C	ENST00000392429.1	+	2	3583	c.1205G>C	c.(1204-1206)cGg>cCg	p.R402P	TMEM200A_ENST00000296978.3_Missense_Mutation_p.R402P|TMEM200A_ENST00000545622.1_Missense_Mutation_p.R402P	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	402						integral to membrane		p.R402Q(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GACTTAGACCGGGGTCCCTCC	0.502000													7	82					0	0	0.001984	0	0
ARID1A	8289	broad.mit.edu	37	1	27106228	27106228	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:27106228C>T	ENST00000324856.7	+	20	6210	c.5839C>T	c.(5839-5841)Cag>Tag	p.Q1947*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1730*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.Q275*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1564*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1947					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TAGCCCAGCACAGAGCCACCG	0.532000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								18	73					0	0	0.008871	0	0
CENPI	2491	broad.mit.edu	37	X	100403043	100403043	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:100403043A>T	ENST00000372927.1	+	19	2264	c.1987A>T	c.(1987-1989)Att>Ttt	p.I663F	CENPI_ENST00000218507.5_Missense_Mutation_p.I663F|CENPI_ENST00000423383.1_Missense_Mutation_p.I663F	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	663					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AGGAATATATATTGACCCTGA	0.363000													16	178					0	0	0.006122	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000													4	40					0	0	0.009096	0	0
CDC27	996	broad.mit.edu	37	17	45235606	45235606	+	Silent	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:45235606G>A	ENST00000066544.3	-	5	534	c.441C>T	c.(439-441)ttC>ttT	p.F147F	CDC27_ENST00000446365.2_Silent_p.F86F|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000527547.1_Silent_p.F147F|CDC27_ENST00000531206.1_Silent_p.F147F	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	147					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GAGACCAGAGGAAAGGATTTA	0.418000													6	54					0	0	0.006214	0	0
TP53	7157	broad.mit.edu	37	17	7579377	7579377	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:7579377G>A	ENST00000420246.2	-	4	442	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	TP53_ENST00000359597.4_Nonsense_Mutation_p.Q104*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q104*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q104*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	104	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		Q -> H (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q104*(12)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.Y103_Q104>**(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TAGCTGCCCTGGTAGGTTTTC	0.632000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	57					0	0	0.006122	0	0
GPR182	11318	broad.mit.edu	37	12	57389441	57389441	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:57389441G>A	ENST00000300098.1	+	2	667	c.448G>A	c.(448-450)Gac>Aac	p.D150N		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	150						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CCTCAGTGTCGACCGCTATGT	0.597000													12	71					0	0	0.010729	0	0
ANKHD1	54882	broad.mit.edu	37	5	139921779	139921779	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr5:139921779C>T	ENST00000297183.6	+	34	7716	c.7592C>T	c.(7591-7593)cCt>cTt	p.P2531L	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P2531L	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTCAGTCCCTGCTCTCAAA	0.453000													7	42					0	0	0.004482	0	0
HEXIM1	10614	broad.mit.edu	37	17	43227248	43227248	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:43227248G>A	ENST00000332499.2	+	1	2565	c.691G>A	c.(691-693)Gcc>Acc	p.A231T		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	231	Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCGGGCCGCCGCCAAATCCGA	0.622000													19	49					0	0	0.010504	0	0
PCSK2	5126	broad.mit.edu	37	20	17462541	17462541	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr20:17462541G>C	ENST00000262545.2	+	12	2058	c.1743G>C	c.(1741-1743)aaG>aaC	p.K581N	PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Missense_Mutation_p.K562N|PCSK2_ENST00000536609.1_Missense_Mutation_p.K546N	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	581					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCCGCAGAAGGGGGTGCTGA	0.617000													6	32					0	0	0.001984	0	0
MYH15	22989	broad.mit.edu	37	3	108195321	108195321	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:108195321C>T	ENST00000273353.3	-	13	1272	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	406	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTTACCAACTCAGAGGAGTTA	0.393000													6	29					0	0	0.021553	0	0
NPTX2	4885	broad.mit.edu	37	7	98256574	98256574	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr7:98256574G>A	ENST00000265634.3	+	4	1151	c.986G>A	c.(985-987)gGa>gAa	p.G329E		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	329	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)			TTCCAGGACGGAGAGAAGCTG	0.642000													15	44					0	0	0.020292	0	0
RSPH4A	345895	broad.mit.edu	37	6	116938023	116938023	+	Silent	SNP	A	A	G	rs145831200		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr6:116938023A>G	ENST00000229554.5	+	1	374	c.237A>G	c.(235-237)acA>acG	p.T79T	RSPH4A_ENST00000368581.4_Silent_p.T79T|RSPH4A_ENST00000368580.4_Silent_p.T79T	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	79					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						GACCAGAAACATCATCACCTG	0.657000									Kartagener syndrome				13	57					0	0	0.013537	0	0
ACAP3	116983	broad.mit.edu	37	1	1236026	1236026	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:1236026G>A	ENST00000354700.5	-	6	587	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	ACAP3_ENST00000353662.3_Missense_Mutation_p.R87W	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	129					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						AGGTCCTCCCGCACCTTGTCA	0.647000													11	45					0	0	0.013537	0	0
HNRNPU	3192	broad.mit.edu	37	1	245019248	245019248	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:245019248G>A	ENST00000444376.2	-	11	2302	c.2068C>T	c.(2068-2070)Cgt>Tgt	p.R690C	HNRNPU_ENST00000283179.9_Missense_Mutation_p.R709C	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	709					CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			AATCCTCCACGTCCTCTATGG	0.403000													12	206					0	0	0.013537	0	0
BAI3	577	broad.mit.edu	37	6	70071087	70071087	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr6:70071087T>C	ENST00000370598.1	+	29	4743	c.3922T>C	c.(3922-3924)Tat>Cat	p.Y1308H	BAI3_ENST00000238918.8_Missense_Mutation_p.Y514H|BAI3_ENST00000546190.1_Missense_Mutation_p.Y272H	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1308					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGAAAGTGACTATATTGTGAT	0.398000													6	50					0	0	0.021553	0	0
OSBPL11	114885	broad.mit.edu	37	3	125282600	125282600	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:125282600C>G	ENST00000296220.5	-	7	1245	c.956G>C	c.(955-957)aGt>aCt	p.S319T		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	319					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CACCGGCTTACTCTGATCAGT	0.413000													13	67					0	0	0.016723	0	0
CUL4B	8450	broad.mit.edu	37	X	119672528	119672528	+	Silent	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:119672528G>T	ENST00000371322.5	-	13	1900	c.1839C>A	c.(1837-1839)tcC>tcA	p.S613S	CUL4B_ENST00000336592.6_Silent_p.S618S|CUL4B_ENST00000404115.3_Silent_p.S631S	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	631					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTTTAAGTTTGGACAGCATTG	0.383000													25	103					7.26314e-15	8.84783e-15	0.007291	1	0
ASTN2	23245	broad.mit.edu	37	9	119770538	119770538	+	Splice_Site	SNP	C	C	T	rs139435569		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr9:119770538C>T	ENST00000313400.4	-	7	1524	c.1423_splice	c.e7-1	p.G475_splice	ASTN2_ENST00000373996.3_Splice_Site_p.G475_splice|ASTN2_ENST00000361209.2_Splice_Site_p.G424_splice|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	475						integral to membrane		p.G424E(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GAAGCTGCTTCCTATGGGTGA	0.498000													8	46					0	0	0.003080	0	0
WDR62	284403	broad.mit.edu	37	19	36593683	36593683	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:36593683G>A	ENST00000401500.2	+	27	3300	c.3265G>A	c.(3265-3267)Gaa>Aaa	p.E1089K	WDR62_ENST00000270301.7_Missense_Mutation_p.E1084K	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	1084					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTCTGAAGCTGAAGACCACTT	0.617000													5	36					0	0	0.014758	0	0
BTN2A2	10385	broad.mit.edu	37	6	26392973	26392973	+	Silent	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr6:26392973G>A	ENST00000356709.4	+	8	1461	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L	BTN2A2_ENST00000482536.1_Silent_p.L240L|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000352867.2_Silent_p.L334L|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000416795.2_Silent_p.L450L	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	450	B30.2/SPRY.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						GCGTCTTCCTGGACTATGAAG	0.547000													10	101					0	0	0.008291	0	0
TOPBP1	11073	broad.mit.edu	37	3	133358856	133358856	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:133358856G>A	ENST00000260810.5	-	13	2311	c.2180C>T	c.(2179-2181)aCg>aTg	p.T727M		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	727	BRCT 5.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TCTCTTTCCCGTTCTAGCAGT	0.363000								Other conserved DNA damage response genes					10	42					0	0	0.013537	0	0
OR4C12	283093	broad.mit.edu	37	11	50003965	50003965	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:50003965T>G	ENST00000335238.4	-	1	106	c.73A>C	c.(73-75)Acg>Ccg	p.T25P		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						ACTACAAACGTGACTTTCTCC	0.408000													6	54					0	0	0.001984	0	0
TMBIM4	51643	broad.mit.edu	37	12	66539718	66539718	+	Translation_Start_Site	SNP	T	T	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:66539718T>C	ENST00000544599.1	-	0	866				TMBIM4_ENST00000286424.7_Missense_Mutation_p.I170V|TMBIM4_ENST00000539652.1_Missense_Mutation_p.I123V|TMBIM4_ENST00000358230.3_Missense_Mutation_p.I123V|TMBIM4_ENST00000398033.4_Missense_Mutation_p.I123V|TMBIM4_ENST00000542724.1_Missense_Mutation_p.I92V|TMBIM4_ENST00000556010.1_Missense_Mutation_p.I123V			Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4							integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		TGCAGAATAATATATACATCA	0.303000													10	41					0	0	0.006214	0	0
FGD1	2245	broad.mit.edu	37	X	54492144	54492144	+	Silent	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:54492144G>T	ENST00000375135.3	-	7	2215	c.1482C>A	c.(1480-1482)atC>atA	p.I494I		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	494	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCTCATGGATGATGACTTTAA	0.562000													6	71					5.9392e-07	6.8608e-07	0.021553	1	0
FAT1	2195	broad.mit.edu	37	4	187540153	187540154	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr4:187540153_187540154insT	ENST00000441802.2	-	10	7795_7796	c.7586_7587insA	c.(7585-7587)tcafs	p.S2529fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2529	Cadherin 23.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTACAATATGGTAAGTAACGTG	0.411										HNSCC(5;0.00058)			41	100	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142481996	142481997	+	RNA	INS	-	-	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr7:142481996_142481997insC	ENST00000603901.1	+	0	591					NR_001296.3																						TCCCAAGGTGGGGGGCTGAGGA	0.564													5	10	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:122812690_122812691insT	ENST00000358808.2	-	16	3173_3174	c.3019_3020insA	c.(3019-3021)ccafs	p.P1007fs	CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													7	201	---	---	---	---					
PABPC3	5042	broad.mit.edu	37	13	25671273	25671273	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr13:25671273delG	ENST00000281589.3	+	1	974	c.937delG	c.(937-939)cgfs	p.A313fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	313	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCTCCGGAAAGCGTTTTCTCC	0.408													13	235	---	---	---	---					
PABPC3	5042	broad.mit.edu	37	13	25671333	25671333	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr13:25671333delA	ENST00000281589.3	+	1	1034	c.997delA	c.(997-999)aafs	p.K333fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	333	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.F335fs*19(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGGTCGCAGCAAAGGGTTTGG	0.428													14	150	---	---	---	---					
DICER1	23405	broad.mit.edu	37	14	95562901	95562901	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr14:95562901delA	ENST00000526495.1	-	25	4647	c.4356delT	c.(4354-4356)ttfs	p.F1452fs	DICER1_ENST00000343455.3_Frame_Shift_Del_p.F1452fs|DICER1_ENST00000541352.1_Frame_Shift_Del_p.F1452fs|DICER1_ENST00000393063.1_Frame_Shift_Del_p.F1452fs|DICER1_ENST00000527414.1_Frame_Shift_Del_p.F1452fs|DICER1_ENST00000556045.1_Frame_Shift_Del_p.F350fs			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1452					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TATTATCTATAAATCTGATAT	0.413			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				11	67	---	---	---	---					
PRR25	388199	broad.mit.edu	37	16	855518	855523	+	In_Frame_Del	DEL	GCAGCT	GCAGCT	-	rs137876084		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr16:855518_855523delGCAGCT	ENST00000301698.1	+	1	76_81	c.76_81delGCAGCT	c.(76-81)del	p.AA26del		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	26										large_intestine(1)|lung(1)|skin(1)	3						CACGGGTGGGGCAGCTGCACACCCCA	0.631													11	6	---	---	---	---					
GPM6B	2824	broad.mit.edu	37	X	13825851	13825851	+	Frame_Shift_Del	DEL	G	G	-	rs112718705		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:13825851delG	ENST00000316715.4	-	2	536	c.99delC	c.(97-99)cafs	p.H33fs	GPM6B_ENST00000355135.2_Frame_Shift_Del_p.H33fs|GPM6B_ENST00000398361.3_Intron|GPM6B_ENST00000356942.5_Intron|GPM6B_ENST00000493677.1_Frame_Shift_Del_p.H7fs|GPM6B_ENST00000454189.2_Intron	NM_001001995.1	NP_001001995.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	20					cell differentiation|nervous system development	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						GGTACATCCAGTGGTACCTGC	0.517													11	135	---	---	---	---					
FANCB	2187	broad.mit.edu	37	X	14871234	14871235	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:14871234_14871235insT	ENST00000398334.1	-	6	1519_1520	c.1252_1253insA	c.(1252-1254)tatfs	p.Y418fs	FANCB_ENST00000324138.3_Frame_Shift_Ins_p.Y418fs	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	418					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TTTTGAAATAATTTTTTCCTTA	0.312								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				9	82	---	---	---	---					
