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
ZFYVE1	53349	broad.mit.edu	37	14	73459968	73459968	+	Silent	SNP	C	C	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr14:73459968C>T	ENST00000556143.1	-	4	1806	c.1086G>A	c.(1084-1086)acG>acA	p.T362T	ZFYVE1_ENST00000553891.1_Silent_p.T362T|ZFYVE1_ENST00000318876.5_Silent_p.T362T	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	362						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TGTAAGTCCTCGTTCCCTTGT	0.562000													43	61					0	0	0.139131	0	0
MUC4	4585	broad.mit.edu	37	3	195512117	195512117	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr3:195512117C>G	ENST00000463781.3	-	2	6793	c.6334G>C	c.(6334-6336)Gct>Cct	p.A2112P	MUC4_ENST00000475231.1_Missense_Mutation_p.A2112P|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	880	EGF-like 2.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCATGAAGAGCGGTGGCGTGA	0.567000													2	4					0	0	0.115264	0	0
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433000													3	102					0	0	0.150653	0	0
CAPNS1	826	broad.mit.edu	37	19	36636739	36636739	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:36636739A>C	ENST00000246533.3	+	7	1086	c.488A>C	c.(487-489)gAa>gCa	p.E163A	CAPNS1_ENST00000588815.1_Missense_Mutation_p.E163A|CAPNS1_ENST00000587718.1_Missense_Mutation_p.E163A|CAPNS1_ENST00000589146.1_Intron|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000590874.1_Missense_Mutation_p.E133A|CAPNS1_ENST00000588780.1_Missense_Mutation_p.E173A	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	163	EF-hand 2.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGCTTTGAGGAATTCAAGTAC	0.532000													38	69					0	0	0.117977	0	0
MMP16	4325	broad.mit.edu	37	8	89058941	89058941	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr8:89058941C>T	ENST00000286614.6	-	9	1726	c.1445G>A	c.(1444-1446)gGg>gAg	p.G482E		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	482	Hemopexin-like 3.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TTCAGGGATCCCTTTCCAGAC	0.373000													7	75					0	0	0.058154	0	0
PTEN	5728	broad.mit.edu	37	10	89692849	89692849	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr10:89692849G>A	ENST00000371953.3	+	5	1690	c.333G>A	c.(331-333)tgG>tgA	p.W111*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	111	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(5)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTGACCAATGGCTAAGTGAAG	0.393000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			19	86					0	0	0.055883	0	0
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr4:146059006G>A	ENST00000454497.2	-	21	2863	c.2726C>T	c.(2725-2727)aCt>aTt	p.T909I	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	973							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463000													5	212					0	0	0.021553	0	0
FRG1B	0	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													5	88					0	0	0.014758	0	0
TNPO1	3842	broad.mit.edu	37	5	72195834	72195834	+	Splice_Site	SNP	A	A	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr5:72195834A>G	ENST00000337273.5	+	21	2766	c.2338_splice	c.e21-1	p.A780_splice	TNPO1_ENST00000523768.1_Splice_Site_p.A730_splice|TNPO1_ENST00000454282.1_Splice_Site_p.A730_splice|TNPO1_ENST00000506351.2_Splice_Site_p.A772_splice	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	780					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		TTACCTTAGCAATAACAATTG	0.398000													41	69					0	0	0.111260	0	0
PROSER1	80209	broad.mit.edu	37	13	39587196	39587196	+	Silent	SNP	G	G	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr13:39587196G>A	ENST00000352251.3	-	11	3026	c.2193C>T	c.(2191-2193)acC>acT	p.T731T	PROSER1_ENST00000484434.2_Intron|PROSER1_ENST00000350125.3_Silent_p.T709T	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	731	Ser-rich.																AGGTGGCAGCGGTAGATGAGG	0.498000													11	171					0	0	0.093190	0	0
MLK4	0	broad.mit.edu	37	1	233518097	233518097	+	Silent	SNP	C	C	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr1:233518097C>G	ENST00000366624.3	+	10	3012	c.2751C>G	c.(2749-2751)ctC>ctG	p.L917L	MLK4_ENST00000366622.1_Silent_p.L363L	NM_032435.2	NP_115811.2																					CACTGCCACTCTGCCCCTCAC	0.532000													3	113					0	0	0.150653	0	0
RELA	5970	broad.mit.edu	37	11	65423213	65423213	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr11:65423213G>A	ENST00000525693.1	-	10	1041	c.979C>T	c.(979-981)Cca>Tca	p.P327S	RELA_ENST00000308639.9_Missense_Mutation_p.P324S|RELA_ENST00000406246.3_Missense_Mutation_p.P327S			Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	327					anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|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	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CGTCGAGGTGGAGGCCGGGGG	0.622000													27	34					0	0	0.153744	0	0
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:22155896A>C	ENST00000397126.4	-	4	2088	c.1940T>G	c.(1939-1941)aTt>aGt	p.I647S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398000													3	108					0	0	0.150653	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179564990	179564990	+	Silent	SNP	G	G	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr5:179564990G>A	ENST00000393371.2	-	1	359	c.63C>T	c.(61-63)acC>acT	p.T21T	RASGEF1C_ENST00000361132.4_Silent_p.T21T			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	21					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGTGGGCTCGGTGGGGGGTG	0.652000													9	97					0	0	0.093190	0	0
KRT6A	3853	broad.mit.edu	37	12	52881722	52881722	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr12:52881722C>T	ENST00000330722.6	-	9	1545	c.1477G>A	c.(1477-1479)Gtc>Atc	p.V493I		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	493	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCACTGGAGACGGTGGACTGC	0.612000													24	12					0	0	0.076483	0	0
ZNF860	344787	broad.mit.edu	37	3	32031962	32031962	+	Missense_Mutation	SNP	A	A	G	rs1808125	by1000genomes	TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr3:32031962A>G	ENST00000360311.4	+	2	1940	c.1391A>G	c.(1390-1392)cAt>cGt	p.H464R		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						AAGACCTTCCATCACAATTCA	0.418000													5	130					0	0	0.029380	0	0
NUMBL	9253	broad.mit.edu	37	19	41174032	41174032	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:41174032A>G	ENST00000252891.4	-	10	1338	c.1171T>C	c.(1171-1173)Tgg>Cgg	p.W391R	NUMBL_ENST00000540131.1_Missense_Mutation_p.W350R|NUMBL_ENST00000598779.1_Missense_Mutation_p.W350R	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	391					cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			GGCTCACCCCAGGCAGAAGTC	0.652000													2	12					0	0	0.115264	0	0
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:12501446T>C	ENST00000419318.1	-	4	2419	c.1670A>G	c.(1669-1671)gAa>gGa	p.E557G	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G			Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413000													3	98					0	0	0.115264	0	0
FNDC1	84624	broad.mit.edu	37	6	159636159	159636159	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr6:159636159C>T	ENST00000297267.9	+	5	843	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	FNDC1_ENST00000340366.6_Missense_Mutation_p.R215W	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	215	Fibronectin type-III 2.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AAGAGATGAACGGACACACGA	0.443000													4	108					0	0	0.150653	0	0
ZNF91	7644	broad.mit.edu	37	19	23544783	23544783	+	Missense_Mutation	SNP	C	C	T	rs410211		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:23544783C>T	ENST00000300619.7	-	4	1203	c.998G>A	c.(997-999)cGt>cAt	p.R333H	ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	333				R -> H (in Ref. 1; AAA59469).		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R333H(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAACGGCTAAAAGC	0.393000													5	152					0	0	0.021553	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													7	148					0	0	0.038147	0	0
IFITM1	8519	broad.mit.edu	37	11	314253	314253	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr11:314253A>G	ENST00000408968.3	+	1	401	c.83A>G	c.(82-84)cAc>cGc	p.H28R	IFITM1_ENST00000528780.1_Missense_Mutation_p.H28R|IFITM1_ENST00000328221.5_Missense_Mutation_p.H28R	NM_003641.3	NP_003632.3	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	28					negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATCAACATCCACAGCGAGACC	0.582000													5	137					0	0	0.021553	0	0
OR10K1	391109	broad.mit.edu	37	1	158435743	158435743	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr1:158435743G>A	ENST00000289451.2	+	1	472	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R131H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					AACCCACTGCGCTACTCAGTG	0.537000													5	195					0	0	0.014758	0	0
CDC7	8317	broad.mit.edu	37	1	91967356	91967356	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr1:91967356T>A	ENST00000428239.1	+	2	342	c.83T>A	c.(82-84)tTa>tAa	p.L28*	CDC7_ENST00000430031.2_Nonsense_Mutation_p.L28*|CDC7_ENST00000234626.6_Nonsense_Mutation_p.L28*|CDC7_ENST00000497611.1_3'UTR	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	28					cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GAAGGCTCTTTAAAAAAAAAC	0.403000													4	87					0	0	0.014758	0	0
CDC23	8697	broad.mit.edu	37	5	137524750	137524750	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr5:137524750A>G	ENST00000394886.2	-	16	1741	c.1711T>C	c.(1711-1713)Ttt>Ctt	p.F571L		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	571					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|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|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTAGGAAAAAGGGAGCAGGC	0.532000													3	89					0	0	0.150653	0	0
LGSN	51557	broad.mit.edu	37	6	63995626	63995626	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr6:63995626G>T	ENST00000370658.5	-	3	229	c.196C>A	c.(196-198)Cca>Aca	p.P66T	LGSN_ENST00000370657.4_Missense_Mutation_p.P66T	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	66					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	AGTTGAGGTGGGGTCAAAATT	0.438000													3	65					0.00024832	0.000255961	0.150653	1	0
OR5L2	26338	broad.mit.edu	37	11	55594795	55594795	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr11:55594795T>C	ENST00000378397.1	+	1	101	c.101T>C	c.(100-102)aTc>aCc	p.I34T		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TTCCTTCTCATCTATGGAGTC	0.517000										HNSCC(27;0.073)			37	291					0	0	0.098360	0	0
NTNG1	22854	broad.mit.edu	37	1	108023234	108023234	+	Splice_Site	SNP	G	G	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr1:108023234G>A	ENST00000370067.1	+	7	1782	c.1153_splice	c.e7-1	p.A385_splice	NTNG1_ENST00000370068.1_Splice_Site_p.P464_splice|NTNG1_ENST00000542803.1_Splice_Site_p.P464_splice|NTNG1_ENST00000370071.2_Splice_Site_p.A405_splice|NTNG1_ENST00000370073.2_Splice_Site_p.P464_splice|NTNG1_ENST00000370072.3_Splice_Site_p.A419_splice|NTNG1_ENST00000370074.4_Splice_Site_p.T363_splice|NTNG1_ENST00000370070.2_Splice_Site_p.A385_splice|NTNG1_ENST00000370061.3_Splice_Site_p.P430_splice|NTNG1_ENST00000370065.1_Splice_Site_p.A419_splice|NTNG1_ENST00000370066.1_Splice_Site_p.A405_splice			Q9Y2I2	NTNG1_HUMAN	netrin G1	393	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ATTCTGCAGCGAATGTCTGCG	0.572000													10	34					0	0	0.069234	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			28	21					0	0	0.153744	0	0
SCN3B	55800	broad.mit.edu	37	11	123516294	123516294	+	Splice_Site	SNP	C	C	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr11:123516294C>T	ENST00000392770.2	-	2	1022		c.e2+1		SCN3B_ENST00000530277.1_Splice_Site|SCN3B_ENST00000299333.3_Splice_Site	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit						axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		GTCTAACATACAAGGAAATCT	0.572000													48	89					0	0	0.139131	0	0
PHKA1	5255	broad.mit.edu	37	X	71840634	71840634	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chrX:71840634A>T	ENST00000339490.3	-	19	2378	c.2078T>A	c.(2077-2079)gTg>gAg	p.V693E	PHKA1_ENST00000373539.3_Missense_Mutation_p.V693E|PHKA1_ENST00000541944.1_Intron|PHKA1_ENST00000373545.3_Intron|PHKA1_ENST00000373542.4_Missense_Mutation_p.V693E	NM_001122670.1	NP_001116142.1	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	693					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GGTTGTTTGCACAGCAGCTTG	0.517000													4	45					0	0	0.029380	0	0
TMEM189	387521	broad.mit.edu	37	20	48713342	48713342	+	Missense_Mutation	SNP	C	C	A	rs143006544		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr20:48713342C>A	ENST00000557021.1	-	6	867	c.707G>T	c.(706-708)cGc>cTc	p.R236L	UBE2V1_ENST00000415862.2_Intron|UBE2V1_ENST00000371677.3_Missense_Mutation_p.R36L|UBE2V1_ENST00000371674.3_Missense_Mutation_p.R13L|UBE2V1_ENST00000371657.5_Missense_Mutation_p.R13L|UBE2V1_ENST00000340309.3_Missense_Mutation_p.R36L|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.R236L|UBE2V1_ENST00000396059.3_Intron|UBE2V1_ENST00000420027.2_Intron	NM_199203.2	NP_954673.1			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			TCGGAAATTGCGAGGGACTTT	0.448000													4	104					0.150653	0.152936	0.150653	1	0
DCP2	167227	broad.mit.edu	37	5	112343668	112343668	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr5:112343668T>C	ENST00000389063.2	+	9	1174	c.976T>C	c.(976-978)Tat>Cat	p.Y326H	DCP2_ENST00000515408.1_Intron|DCP2_ENST00000543319.1_Missense_Mutation_p.Y115H	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN	decapping mRNA 2	326					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		CAGAAAACAGTATCAAGATTC	0.343000													28	41					0	0	0.144211	0	0
TRIM42	287015	broad.mit.edu	37	3	140406902	140406902	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr3:140406902A>G	ENST00000286349.3	+	3	1569	c.1378A>G	c.(1378-1380)Acc>Gcc	p.T460A		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	460	COS.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CATCCAGACCACCTACAGGCC	0.577000													6	52					0	0	0.029380	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77327095	77327095	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr16:77327095C>T	ENST00000282849.5	-	20	3485	c.3067G>A	c.(3067-3069)Gca>Aca	p.A1023T		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1023	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGGGTTTCTGCGGCAGAGCCC	0.562000													4	144					0	0	0.150653	0	0
SLC37A1	54020	broad.mit.edu	37	21	43967227	43967227	+	Silent	SNP	A	A	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr21:43967227A>C	ENST00000352133.2	+	9	1727	c.745A>C	c.(745-747)Agg>Cgg	p.R249R	SLC37A1_ENST00000398341.3_Silent_p.R249R			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	249					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GAACGACGTCAGGTGCTCCTC	0.552000													27	118					0	0	0.153744	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													7	152					0	0	0.038147	0	0
ZNF611	81856	broad.mit.edu	37	19	53209167	53209167	+	Missense_Mutation	SNP	G	G	A	rs148756171		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:53209167G>A	ENST00000543227.1	-	6	1415	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W	ZNF611_ENST00000540744.1_Missense_Mutation_p.R381W|ZNF611_ENST00000319783.1_Missense_Mutation_p.R381W|ZNF611_ENST00000453741.2_Missense_Mutation_p.R312W|ZNF611_ENST00000602162.1_Missense_Mutation_p.R312W|ZNF611_ENST00000595798.1_Missense_Mutation_p.R312W	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GTTGATTTCCGACTGAAAACT	0.383000													6	87					0	0	0.021553	0	0
CYYR1	116159	broad.mit.edu	37	21	27840931	27840931	+	Silent	SNP	G	G	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr21:27840931G>A	ENST00000299340.4	-	4	697	c.354C>T	c.(352-354)caC>caT	p.H118H	CYYR1_ENST00000435845.2_3'UTR|AP001596.6_ENST00000421771.1_RNA|AP001596.6_ENST00000429340.1_RNA|AP001596.6_ENST00000444306.1_RNA|AP001597.1_ENST00000414486.1_RNA|AP001597.1_ENST00000357401.3_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	118						integral to membrane		p.H118H(1)		large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						TCTCGTGGTCGTGACCGTAGG	0.527000													45	67					0	0	0.139131	0	0
SUZ12P	0	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181	by1000genomes	TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303000													4	96					0	0	0.150653	0	0
IGHG1	0	broad.mit.edu	37	14	106208446	106208446	+	RNA	SNP	C	C	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr14:106208446C>T	ENST00000390548.2	-	0	453																											TCAGGGTCTTCGTGGCTCACG	0.597000													6	148					0	0	0.038147	0	0
RAG1	5896	broad.mit.edu	37	11	36597480	36597480	+	Missense_Mutation	SNP	G	G	A	rs145772007	byFrequency	TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr11:36597480G>A	ENST00000299440.5	+	2	2738	c.2626G>A	c.(2626-2628)Gag>Aag	p.E876K		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	876					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AATTCCTTCCGAGGAGAGGCA	0.483000									Familial Hemophagocytic Lymphohistiocytosis				45	90					0	0	0.139131	0	0
DLG1	1739	broad.mit.edu	37	3	196867046	196867046	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr3:196867046G>C	ENST00000346964.2	-	9	966	c.777C>G	c.(775-777)atC>atG	p.I259M	DLG1_ENST00000357674.4_Missense_Mutation_p.I226M|DLG1_ENST00000452595.1_Missense_Mutation_p.I143M|DLG1_ENST00000443183.1_Missense_Mutation_p.I143M|DLG1_ENST00000448528.2_Missense_Mutation_p.I259M|DLG1_ENST00000450955.1_Missense_Mutation_p.I226M|DLG1_ENST00000422288.1_Missense_Mutation_p.I208M|DLG1_ENST00000392382.2_Missense_Mutation_p.I226M|DLG1_ENST00000419354.1_Missense_Mutation_p.I259M|DLG1_ENST00000314062.3_Missense_Mutation_p.I208M	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	259	PDZ 1.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		CTCCCCCTGTGATAATTTTGG	0.443000													3	148					0	0	0.115264	0	0
TLR7	51284	broad.mit.edu	37	X	12904067	12904067	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chrX:12904067C>T	ENST00000380659.3	+	3	579	c.440C>T	c.(439-441)cCg>cTg	p.P147L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	147					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CAGGGCCTCCCGCCTAGCTTA	0.458000													39	12					0	0	0.092188	0	0
ANKRD30BP2	0	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr21:14414844T>C	ENST00000507941.1	+	0	95																											ACTGGGCCTGTGCCAATGGCC	0.433000													3	92					0	0	0.047766	0	0
ANKRD30BP2	0	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													7	90					0	0	0.105934	0	0
CD3EAP	10849	broad.mit.edu	37	19	45911967	45911967	+	Silent	SNP	G	G	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:45911967G>A	ENST00000309424.3	+	3	1229	c.741G>A	c.(739-741)ccG>ccA	p.P247P	ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_Silent_p.P249P|ERCC1_ENST00000300853.3_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	247					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGCTGTTCCCGTCCACCACCA	0.522000													47	67					0	0	0.139131	0	0
ZNF878	729747	broad.mit.edu	37	19	12155757	12155757	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:12155757C>A	ENST00000602107.1	-	5	599	c.600G>T	c.(598-600)agG>agT	p.R200S	CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.R153S|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron			C9JN71	ZN878_HUMAN	zinc finger protein 878	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAACCTGAATGCTT	0.423000													6	159					3.09899e-07	3.29575e-07	0.047766	1	0
ROR1	4919	broad.mit.edu	37	1	64515405	64515405	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr1:64515405C>T	ENST00000371079.1	+	3	581	c.206C>T	c.(205-207)aCg>aTg	p.T69M	ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Missense_Mutation_p.T69M	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	69	Ig-like C2-type.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	p.T69M(2)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						AACATCACCACGTCTCTGGGC	0.547000													23	141					0	0	0.091800	0	0
EFHD1	80303	broad.mit.edu	37	2	233546303	233546303	+	Silent	SNP	C	C	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr2:233546303C>T	ENST00000264059.3	+	4	1071	c.594C>T	c.(592-594)gcC>gcT	p.A198A	EFHD1_ENST00000409613.1_Silent_p.A102A|EFHD1_ENST00000410095.1_Silent_p.A86A|EFHD1_ENST00000409708.1_Silent_p.A86A	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	198							calcium ion binding|protein binding			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		AGGTCCAAGCCTTGTCATCGG	0.572000													79	130					0	0	0.139131	0	0
PCDHB13	0	broad.mit.edu	37	5	140595972	140595972	+	Silent	SNP	A	A	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr5:140595972A>G	ENST00000341948.4	+	1	2464	c.2277A>G	c.(2275-2277)tcA>tcG	p.S759S		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		759					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGGAGGCTCAGGGACCAATG	0.552000													3	127					0	0	0.150653	0	0
ANKIB1	54467	broad.mit.edu	37	7	92020490	92020490	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr7:92020490A>G	ENST00000265742.3	+	16	2439	c.2063A>G	c.(2062-2064)gAa>gGa	p.E688G		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	688							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAGACCTAGAAATGGTCACT	0.428000													14	87					0	0	0.160694	0	0
TRIM51HP	0	broad.mit.edu	37	11	55064991	55064991	+	RNA	SNP	G	G	T	rs115145648	by1000genomes	TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr11:55064991G>T	ENST00000526016.1	-	0	434					NR_038174.2																						CCATGTTCAGGTTTCTGAGAT	0.403000													3	73					1.12685e-05	1.17967e-05	0.047766	1	0
SGIP1	84251	broad.mit.edu	37	1	67147853	67147853	+	Silent	SNP	G	G	A	rs139355833		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr1:67147853G>A	ENST00000371037.4	+	15	1193	c.1116G>A	c.(1114-1116)tcG>tcA	p.S372S	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Silent_p.S376S	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	372	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ATGTACTATCGCCGCTCAATT	0.542000													4	147					0	0	0.014758	0	0
GPR50	9248	broad.mit.edu	37	X	150348881	150348881	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chrX:150348881T>C	ENST00000218316.3	+	2	895	c.826T>C	c.(826-828)Tat>Cat	p.Y276H		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	276					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CAACTGGCTTTATCTTGCAGC	0.512000													4	83					0	0	0.150653	0	0
FPR2	2358	broad.mit.edu	37	19	52272719	52272719	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:52272719G>A	ENST00000598776.1	+	2	1580	c.808G>A	c.(808-810)Gag>Aag	p.E270K	FPR2_ENST00000340023.6_Missense_Mutation_p.E270K|FPR2_ENST00000598953.1_Missense_Mutation_p.E270K	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	270					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTGGCTCAAAGAGATGTTGTT	0.512000													20	32					0	0	0.049695	0	0
TUBA4A	7277	broad.mit.edu	37	2	220116307	220116307	+	Silent	SNP	G	G	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr2:220116307G>A	ENST00000392088.2	-	3	865	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	TUBA4A_ENST00000498660.1_5'UTR|TUBA4A_ENST00000248437.4_Silent_p.L119L	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	119					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCCGATCCAGCACTGGGTCA	0.502000													3	109					0	0	0.014758	0	0
GIGYF2	26058	broad.mit.edu	37	2	233620985	233620987	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr2:233620985_233620987delGAG	ENST00000373566.3	+	6	517_519	c.320_322delGAG	c.(319-324)cga>c	p.RG107del	GIGYF2_ENST00000409451.3_In_Frame_Del_p.RG107del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.RG107del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.RG107del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.RG107del|GIGYF2_ENST00000409547.1_In_Frame_Del_p.RG107del			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	107	Poly-Gly.				cell death		protein binding	p.G108R(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTGACAGGACGAGGAGGAGGAGG	0.424													7	118	---	---	---	---					
ATP11B	23200	broad.mit.edu	37	3	182602674	182602674	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr3:182602674delT	ENST00000323116.5	+	22	2903	c.2643delT	c.(2641-2643)tafs	p.Y881fs		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	881					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.Y884fs*30(1)		breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TTGTACAGTATTTTTTTTATA	0.269													7	83	---	---	---	---					
BOD1L1	259282	broad.mit.edu	37	4	13610162	13610162	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr4:13610162delT	ENST00000040738.5	-	8	1869	c.1734delA	c.(1732-1734)aafs	p.K578fs		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	578	Lys-rich.						DNA binding										ACCTTGAATCTTTTTTTCTCT	0.358													3	4	---	---	---	---					
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)del	p.L221del	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del			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						CGGTGAACACCAGCAGCAGCAGC	0.601													8	69	---	---	---	---					
SNAPC4	6621	broad.mit.edu	37	9	139277995	139277997	+	In_Frame_Del	DEL	GCT	GCT	-	rs34222232		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr9:139277995_139277997delGCT	ENST00000298532.2	-	15	1992_1994	c.1624_1626delAGC	c.(1624-1626)del	p.S542del		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	542					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.S542delS(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGTCCTCCTCgctgctgctgctg	0.690													7	9	---	---	---	---					
ERCC6	2074	broad.mit.edu	37	10	50732139	50732141	+	In_Frame_Del	DEL	CCT	CCT	-	rs4253047	byFrequency	TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr10:50732139_50732141delCCT	ENST00000355832.5	-	5	1413_1415	c.1335_1337delAGG	c.(1333-1338)ggt>gg	p.GG445del	ERCC6-PGBD3_ENST00000515869.1_In_Frame_Del_p.GG445del|PGBD3_ENST00000374127.3_5'UTR|ERCC6-PGBD3_ENST00000447839.2_In_Frame_Del_p.GG445del|PGBD3_ENST00000603152.1_In_Frame_Del_p.GG445del	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	445	Gly-rich.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CACTTTCCGACCTCCTCCTCCTC	0.458								Direct reversal of damage;Nucleotide excision repair (NER)					9	231	---	---	---	---					
TPTE2	93492	broad.mit.edu	37	13	20041394	20041394	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr13:20041394delA	ENST00000400230.2	-	7	527	c.483delT	c.(481-483)ttfs	p.F161fs	TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382978.1_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	161						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTTAATGTCAAAAAAAATGT	0.303													7	116	---	---	---	---					
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	GCC	-	rs5811180		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr14:105996050_105996052delGCC	ENST00000392519.2	+	2	1043_1045	c.879_881delGCC	c.(877-882)gtg>gt	p.VP293del	TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	293	Pro-rich.					integral to membrane				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768													3	6	---	---	---	---					
NPIPA8	101059953	broad.mit.edu	37	16	18441114	18441116	+	Splice_Site	DEL	CAC	CAC	-			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr16:18441114_18441116delCAC	ENST00000339303.5	-	1	15		c.e1+1							nuclear pore complex interacting protein family, member A8																		CGGCCATACTCACCACTGGGACT	0.709													5	10	---	---	---	---					
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)ccaaagfs	p.PK775fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	775					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGAGGCTTTTGGGGGGGCTGG	0.545													7	609	---	---	---	---					
TPTEP1	0	broad.mit.edu	37	22	17127506	17127507	+	RNA	INS	-	-	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr22:17127506_17127507insA	ENST00000426585.1	+	0	442																											AGGGCCTAGAGAAAAAAAAAAT	0.421													8	108	---	---	---	---					
