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
ARHGEF15	22899	broad.mit.edu	37	17	8216453	8216453	+	Missense_Mutation	SNP	G	G	A	rs113540851		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr17:8216453G>A	ENST00000361926.3	+	3	925	c.815G>A	c.(814-816)cGc>cAc	p.R272H	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R272H	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	272					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						ACTGCTGAGCGCAAACTCCTG	0.632000													3	30					0	0	1	0	0
ANO10	55129	broad.mit.edu	37	3	43591240	43591240	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr3:43591240T>C	ENST00000292246.3	-	11	1939	c.1769A>G	c.(1768-1770)gAc>gGc	p.D590G	ANO10_ENST00000414522.2_Missense_Mutation_p.D590G|ANO10_ENST00000451430.2_Missense_Mutation_p.D479G|ANO10_ENST00000396091.3_Missense_Mutation_p.D524G|ANO10_ENST00000350459.4_Missense_Mutation_p.D400G	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	590					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						CAAAATGAGGTCTGCTTTTGA	0.383000													8	82					0	0	1	0	0
CCNB2	9133	broad.mit.edu	37	15	59406974	59406974	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr15:59406974C>T	ENST00000288207.2	+	5	687	c.496C>T	c.(496-498)Cgt>Tgt	p.R166C	CCNB2_ENST00000559622.1_Missense_Mutation_p.R85C	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	166					cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus	protein kinase binding			kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						TGGACGCATGCGTGCCATCCT	0.428000													36	75					0	0	1	0	0
PCDHB4	0	broad.mit.edu	37	5	140503073	140503073	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr5:140503073C>G	ENST00000194152.1	+	1	1493	c.1493C>G	c.(1492-1494)cCc>cGc	p.P498R		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		498	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCACCTGCCCCTCGCCTCC	0.687000													13	74					0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39159391	39159391	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr6:39159391G>A	ENST00000359534.3	-	5	1113	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	259					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CGCCGCCGCCGCTTCTTAATG	0.577000													18	93					0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19962047	19962047	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr3:19962047T>A	ENST00000295824.9	-	2	963	c.802A>T	c.(802-804)Att>Ttt	p.I268F	EFHB_ENST00000344838.4_Missense_Mutation_p.I138F|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	268					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CCAACTGGAATAACTTTTCCT	0.383000													5	57					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	65					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41160418	41160418	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr5:41160418G>A	ENST00000263413.3	-	11	1774	c.1510C>T	c.(1510-1512)Cgg>Tgg	p.R504W	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.R504W	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	504	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGGTTGTTCCGTTTTGTCACT	0.522000													13	55					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135009218	135009218	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr10:135009218G>A	ENST00000304613.3	+	10	1648	c.1627G>A	c.(1627-1629)Gtc>Atc	p.V543I	KNDC1_ENST00000368571.2_Missense_Mutation_p.V478I|KNDC1_ENST00000368572.2_Missense_Mutation_p.V543I			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	543	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAAGTTCAGCGTCCCCCGCAA	0.687000													4	16					0	0	1	0	0
EML2	24139	broad.mit.edu	37	19	46122422	46122422	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr19:46122422C>T	ENST00000536630.1	-	15	1729	c.1591G>A	c.(1591-1593)Gcc>Acc	p.A531T	EML2_ENST00000245925.3_Missense_Mutation_p.A384T|EML2_ENST00000589876.1_Missense_Mutation_p.A384T|EML2_ENST00000587152.1_Missense_Mutation_p.A585T	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	384					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GGGTGTGTGGCCAGGCCCCAC	0.597000													3	17					0	0	1	0	0
AGTR2	186	broad.mit.edu	37	X	115304403	115304403	+	Silent	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chrX:115304403C>T	ENST00000371906.4	+	3	1060	c.870C>T	c.(868-870)tgC>tgT	p.C290C		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	290					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	p.C290C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TTAATAGCTGCGAAGTTATAG	0.483000													19	27					0	0	1	0	0
ABHD11	83451	broad.mit.edu	37	7	73150932	73150932	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr7:73150932C>T	ENST00000222800.3	-	6	974	c.905G>A	c.(904-906)cGc>cAc	p.R302H	ABHD11_ENST00000458339.1_3'UTR|ABHD11_ENST00000395147.4_Missense_Mutation_p.R245H|ABHD11_ENST00000437775.2_Missense_Mutation_p.R295H	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	302							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				GTCCTGTGGGCGGTCAGCGTG	0.612000													8	76					0	0	1	0	0
GALNS	2588	broad.mit.edu	37	16	88901690	88901690	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr16:88901690C>T	ENST00000268695.5	-	8	917	c.829G>A	c.(829-831)Gtc>Atc	p.V277I	GALNS_ENST00000542788.1_Missense_Mutation_p.V202I	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	277						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	TTGTCCGCGACGTGCAGGTCT	0.567000													10	22					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													4	39					0	0	1	0	0
NDUFB10	4716	broad.mit.edu	37	16	2011190	2011190	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr16:2011190A>G	ENST00000543683.2	+	2	249	c.167A>G	c.(166-168)tAc>tGc	p.Y56C	NDUFB10_ENST00000268668.6_Missense_Mutation_p.Y56C|NDUFB10_ENST00000569148.1_Missense_Mutation_p.Y56C			O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	56					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			lung(1)|urinary_tract(1)	2					NADH(DB00157)	AACAGGTATTACTACTACCAC	0.493000													20	36					0	0	1	0	0
MMP19	4327	broad.mit.edu	37	12	56231394	56231394	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr12:56231394G>C	ENST00000394182.1	-	3	274	c.275C>G	c.(274-276)cCt>cGt	p.P92R	MMP19_ENST00000322569.4_Missense_Mutation_p.P378R|MMP19_ENST00000548629.1_Missense_Mutation_p.P355R|MMP19_ENST00000409200.3_Intron			Q99542	MMP19_HUMAN	matrix metallopeptidase 19	378					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						ATCCAGGTTAGGTTCTACCCT	0.463000													41	61					0	0	1	0	0
ETF1	2107	broad.mit.edu	37	5	137853306	137853306	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr5:137853306G>T	ENST00000499810.2	-	4	695	c.247C>A	c.(247-249)Cct>Act	p.P83T	ETF1_ENST00000503014.1_Missense_Mutation_p.P102T|ETF1_ENST00000360541.5_Missense_Mutation_p.P116T|ETF1_ENST00000514005.1_5'UTR			P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	116					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGTTTGAAAGGTTCAAAGTCA	0.363000													7	76					8.12818e-05	8.41173e-05	1	1	0
UGT2B11	10720	broad.mit.edu	37	4	70080378	70080378	+	Silent	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr4:70080378C>T	ENST00000446444.1	-	1	71	c.63G>A	c.(61-63)ggG>ggA	p.G21G	RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	21					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TTCCACAACTCCCAGAGCTAA	0.448000													90	68					0	0	1	0	0
ETV2	2116	broad.mit.edu	37	19	36134545	36134545	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr19:36134545G>A	ENST00000379026.2	+	4	1128	c.689G>A	c.(688-690)gGc>gAc	p.G230D	ETV2_ENST00000479824.1_Missense_Mutation_p.G109D|ETV2_ENST00000402764.2_Missense_Mutation_p.G202D|ETV2_ENST00000379023.4_Intron|ETV2_ENST00000403402.1_Missense_Mutation_p.G202D			B9EIN1	B9EIN1_HUMAN	ets variant 2	202							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CATGCGGGTGGCACCACCTCT	0.677000													6	31					0	0	1	0	0
NET1	10276	broad.mit.edu	37	10	5497027	5497027	+	Silent	SNP	C	C	A	rs113255666		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr10:5497027C>A	ENST00000355029.4	+	10	1285	c.1143C>A	c.(1141-1143)atC>atA	p.I381I	NET1_ENST00000380359.3_Silent_p.I327I|NET1_ENST00000542715.1_Silent_p.I200I|NET1_ENST00000484741.1_3'UTR	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	381					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						ACCCCAGAATCGAAGCGAGCA	0.537000													14	69					7.93312e-07	8.40533e-07	1	1	0
KCNJ16	3773	broad.mit.edu	37	17	68128440	68128440	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr17:68128440G>A	ENST00000585558.1	+	4	705	c.317G>A	c.(316-318)cGc>cAc	p.R106H	KCNJ16_ENST00000586462.1_Missense_Mutation_p.R110H|KCNJ16_ENST00000589377.1_Missense_Mutation_p.R71H|KCNJ16_ENST00000392670.1_Missense_Mutation_p.R71H|KCNJ16_ENST00000283936.1_Missense_Mutation_p.R71H|KCNJ16_ENST00000392671.1_Missense_Mutation_p.R71H			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	71					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					ACCAAGTGGCGCCATATGTTT	0.403000													24	61					0	0	1	0	0
RP11-419C5.2	0	broad.mit.edu	37	16	70010624	70010624	+	Silent	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr16:70010624C>T	ENST00000532298.1	-	7	653	c.654G>A	c.(652-654)gcG>gcA	p.A218A	PDXDC2P_ENST00000531894.1_RNA																breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						GCTCCGCTGCCGCCATTCTGA	0.512000													7	72					0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61232706	61232706	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr18:61232706C>T	ENST00000382768.1	+	6	734	c.734C>T	c.(733-735)aCg>aTg	p.T245M	SERPINB12_ENST00000269491.1_Missense_Mutation_p.T225M			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	225					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	p.T225M(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AAGATGATGACGCAAAAAGGC	0.488000													13	64					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23397963	23397963	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chrX:23397963G>A	ENST00000379361.4	+	2	1467	c.607G>A	c.(607-609)Gtg>Atg	p.V203M		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	203					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CAAAGACCGGGTGAAATCTGC	0.532000													15	31					0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66384363	66384363	+	Silent	SNP	G	G	C			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr1:66384363G>C	ENST00000329654.4	+	3	313	c.126G>C	c.(124-126)ggG>ggC	p.G42G	PDE4B_ENST00000371049.3_Silent_p.G42G	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	42					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	TCTGGAGAGGGAGAAGGTGTT	0.468000													3	43					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	396793	396793	+	Silent	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr9:396793C>T	ENST00000432829.2	+	25	3091	c.2775C>T	c.(2773-2775)agC>agT	p.S925S	DOCK8_ENST00000382329.1_Silent_p.S460S|DOCK8_ENST00000469391.1_Silent_p.S893S|DOCK8_ENST00000382331.1_Silent_p.S295S|DOCK8_ENST00000453981.1_Silent_p.S993S	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	993					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGGTGAAAAGCATGGCCCAGC	0.468000													14	108					0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121350802	121350802	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr3:121350802G>A	ENST00000314583.3	-	14	1443	c.1352C>T	c.(1351-1353)cCg>cTg	p.P451L	HCLS1_ENST00000428394.2_Missense_Mutation_p.P414L|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	451	SH3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	p.P451L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TACGTCGTCCGGATCAAAGGA	0.488000													10	146					0	0	1	0	0
CRHBP	1393	broad.mit.edu	37	5	76251513	76251513	+	Silent	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr5:76251513C>T	ENST00000274368.4	+	4	791	c.369C>T	c.(367-369)ttC>ttT	p.F123F	CRHBP_ENST00000506501.1_Silent_p.F123F	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	123					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		GGGAGAAGTTCCCCAGTTCCC	0.453000													3	30					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20847208	20847208	+	Silent	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr14:20847208G>A	ENST00000262715.5	-	36	5224	c.5184C>T	c.(5182-5184)tcC>tcT	p.S1728S	TEP1_ENST00000556935.1_Silent_p.S1620S|TEP1_ENST00000545983.1_Silent_p.S66S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1728					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTGTATCATCGGAGAGGAACA	0.557000													13	33					0	0	1	0	0
FUNDC2P2	0	broad.mit.edu	37	2	84517901	84517901	+	RNA	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr2:84517901G>A	ENST00000331369.5	+	0	95																											GCGTAACCTCGCAGATCCCCT	0.622000													8	7					0	0	1	0	0
AC004381.6	0	broad.mit.edu	37	16	20838480	20838480	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr16:20838480G>C	ENST00000261377.6	+	9	1131	c.922G>C	c.(922-924)Gtg>Ctg	p.V308L	AC004381.6_ENST00000564274.1_Missense_Mutation_p.V308L|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.V308L	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					TGCTGTGTTAGTGGGCCACTC	0.413000													4	109					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69696453	69696453	+	Silent	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr4:69696453C>T	ENST00000265403.7	+	6	1470	c.1443C>T	c.(1441-1443)aaC>aaT	p.N481N	UGT2B10_ENST00000458688.2_Silent_p.N397N	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	481					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CAGCCCACAACCTCACCTGGT	0.478000													40	115					0	0	1	0	0
MOS	4342	broad.mit.edu	37	8	57026322	57026322	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr8:57026322C>A	ENST00000311923.1	-	1	219	c.220G>T	c.(220-222)Gtg>Ttg	p.V74L		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	74	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GCCTTGTACACCGAGCCAAAC	0.627000													12	117					9.05144e-12	9.94541e-12	1	1	0
MASP1	5648	broad.mit.edu	37	3	186954108	186954108	+	Silent	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr3:186954108G>A	ENST00000296280.6	-	11	1776	c.1551C>T	c.(1549-1551)acC>acT	p.T517T	MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Silent_p.T404T	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	515	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CCAGGTAGACGGTGACATGCT	0.582000													11	41					0	0	1	0	0
ZNF492	57615	broad.mit.edu	37	19	22847907	22847907	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr19:22847907G>A	ENST00000456783.2	+	4	1680	c.1436G>A	c.(1435-1437)tGt>tAt	p.C479Y		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CCCTACAAGTGTGAAGAATGT	0.378000													5	64					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46541978	46541978	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr13:46541978C>G	ENST00000242848.4	-	15	4330	c.3982G>C	c.(3982-3984)Gat>Cat	p.D1328H	ZC3H13_ENST00000282007.3_Missense_Mutation_p.D1328H|ZC3H13_ENST00000378921.2_Missense_Mutation_p.D284H			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1328							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		caatctttatcagcatctcgg	0.498000													5	50					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83350235	83350235	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr15:83350235G>A	ENST00000261722.3	-	5	665	c.458C>T	c.(457-459)gCc>gTc	p.A153V	AP3B2_ENST00000535359.1_Missense_Mutation_p.A153V|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.A121V	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	153					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GTCCGAGGCGGCTTCCTTGAT	0.582000													3	38					0	0	1	0	0
UBE2S	27338	broad.mit.edu	37	19	55918270	55918270	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr19:55918270T>C	ENST00000264552.9	-	2	251	c.64A>G	c.(64-66)Aca>Gca	p.T22A	UBE2S_ENST00000589978.1_Missense_Mutation_p.T22A	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	22					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		GCGGTCAGTGTCGTCACCTCC	0.597000													5	44					0	0	1	0	0
NME5	8382	broad.mit.edu	37	5	137451449	137451449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr5:137451449C>T	ENST00000265191.2	-	6	609	c.560G>A	c.(559-561)tGg>tAg	p.W187*		NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	NME/NM23 family member 5	187					anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process		ATP binding|nucleoside diphosphate kinase activity|protein binding			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATCAGCTAGCCAAATCTATGG	0.294000													4	19					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74440153	74440153	+	Silent	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr6:74440153C>T	ENST00000437994.2	+	4	794	c.363C>T	c.(361-363)cgC>cgT	p.R121R	CD109_ENST00000422508.2_Intron|CD109_ENST00000287097.5_Silent_p.R121R	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	121						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATAGTACCCGCTTATCATTTG	0.418000													10	61					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17739683	17739683	+	Silent	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chrX:17739683G>A	ENST00000380060.3	+	4	1313	c.975G>A	c.(973-975)ccG>ccA	p.P325P	NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Silent_p.P169P	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	325						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TACCTCTCCCGACGCCAGAGG	0.458000													4	70					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580296	7580296	+	Silent	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr6:7580296G>A	ENST00000379802.3	+	23	4214	c.3873G>A	c.(3871-3873)ctG>ctA	p.L1291L	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1291	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGCAGCATCTGGAGATAGAAC	0.537000													4	96					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7034683	7034683	+	Nonsense_Mutation	SNP	C	C	A	rs146460281		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr18:7034683C>A	ENST00000389658.3	-	14	1939	c.1846G>T	c.(1846-1848)Gga>Tga	p.G616*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	616	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAAGTGAGTCCGTTTCCCTAA	0.328000													6	48					0.0293803	0.0293803	1	1	0
TRIM69	0	broad.mit.edu	37	15	45059579	45059579	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr15:45059579G>A	ENST00000558173.1	+	5	5245	c.500G>A	c.(499-501)aGa>aAa	p.R167K	TRIM69_ENST00000558329.1_Missense_Mutation_p.R150K|TRIM69_ENST00000561043.1_Missense_Mutation_p.R134K|TRIM69_ENST00000329464.4_Missense_Mutation_p.R371K|TRIM69_ENST00000560442.1_Missense_Mutation_p.R167K|TRIM69_ENST00000338264.4_Missense_Mutation_p.R212K|TRIM69_ENST00000559390.1_Missense_Mutation_p.R371K			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	371					apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CTGGGCTCAAGAGGCTTCACC	0.478000													15	83					0	0	1	0	0
PRR19	284338	broad.mit.edu	37	19	42813821	42813821	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr19:42813821C>T	ENST00000499536.2	+	1	896	c.85C>T	c.(85-87)Cgt>Tgt	p.R29C	PRR19_ENST00000598490.1_Missense_Mutation_p.R29C|PRR19_ENST00000341747.3_Missense_Mutation_p.R29C			A6NJB7	PRR19_HUMAN	proline rich 19	29										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				TAGGCGGGAACGTAACAAGGC	0.602000													29	60					0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	396954	396954	+	Silent	SNP	C	C	G			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr11:396954C>G	ENST00000331563.2	+	3	529	c.453C>G	c.(451-453)gcC>gcG	p.A151A	PKP3_ENST00000530695.1_3'UTR	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	151					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-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;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGGGGGTGCCCAGCCCACCC	0.706000													13	11					0	0	1	0	0
B3GNT3	10331	broad.mit.edu	37	19	17919012	17919012	+	Silent	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr19:17919012C>T	ENST00000318683.6	+	2	543	c.396C>T	c.(394-396)cgC>cgT	p.R132R	B3GNT3_ENST00000595387.1_Silent_p.R132R	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	132					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CGTGGGGCCGCGAGCGCAAGG	0.682000													7	32					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47879947	47879947	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr20:47879947C>T	ENST00000396105.1	-	6	2471	c.2225G>A	c.(2224-2226)gGt>gAt	p.G742D	ZNFX1_ENST00000371754.4_Missense_Mutation_p.G742D|ZNFX1_ENST00000371752.1_Missense_Mutation_p.G742D	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	742							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCGTAGGACACCACGCATGGT	0.522000													4	20					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15300085	15300085	+	Splice_Site	SNP	G	G	A	rs144214159		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr19:15300085G>A	ENST00000263388.2	-	7	1266	c.1192_splice	c.e7+1	p.I397_splice		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	397	EGF-like 10; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCCCCTCACCGATAGAGCACT	0.637000													31	37					0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39551746	39551746	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr17:39551746G>A	ENST00000251645.2	-	4	770	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	240	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				ACTTCCCTGCGGTTGGTTTCC	0.627000													8	62					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3229596	3229596	+	Silent	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chrX:3229596G>A	ENST00000217939.6	-	7	6802	c.6648C>T	c.(6646-6648)gcC>gcT	p.A2216A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2216	Ig-like C2-type 6.					extracellular region		p.A2216>?(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTAATCTCCGGCATCTTTGT	0.453000													75	20					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97527357	97527357	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr2:97527357G>C	ENST00000305476.5	-	14	1763	c.1631C>G	c.(1630-1632)tCg>tGg	p.S544W		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	544	PSI.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						TGAAGTGTCCGAGGTCATCAC	0.562000													30	72					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs145089594	by1000genomes	TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr17:45128685T>C	ENST00000575173.1	-	0	418																											TTCCAGGATATGGCTATACTG	0.303000													4	124					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7802839	7802839	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr17:7802839G>T	ENST00000380358.4	+	15	2700	c.2699G>T	c.(2698-2700)gGc>gTc	p.G900V	CHD3_ENST00000358181.4_Missense_Mutation_p.G841V|CHD3_ENST00000330494.7_Missense_Mutation_p.G841V	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	841	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ATCAAAGGGGGCAAGAAAGCT	0.463000													15	66					2.32078e-09	2.48855e-09	1	1	0
NUP188	23511	broad.mit.edu	37	9	131743608	131743608	+	Silent	SNP	G	G	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr9:131743608G>T	ENST00000372577.2	+	15	1476	c.1455G>T	c.(1453-1455)gtG>gtT	p.V485V		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	485					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CTCATGATGTGATCTCCCATG	0.398000													4	153					2.56e-06	2.68047e-06	1	1	0
TTN	7273	broad.mit.edu	37	2	179414986	179414986	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr2:179414986C>T	ENST00000589042.1	-	337	91803	c.91579G>A	c.(91579-91581)Gag>Aag	p.E30527K	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E27959K|TTN_ENST00000342175.6_Missense_Mutation_p.E21654K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E28886K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E21587K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E21462K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28886	Fibronectin type-III 122.						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)			GGGCCAAACTCTACTATTGGT	0.348000													5	56					0	0	1	0	0
FBXO28	23219	broad.mit.edu	37	1	224318220	224318220	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr1:224318220G>A	ENST00000366862.5	+	2	357	c.314G>A	c.(313-315)gGa>gAa	p.G105E	FBXO28_ENST00000424254.2_Missense_Mutation_p.G105E	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	105	F-box.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		TTGAATCAGGGATTTCTGAAA	0.373000													4	46					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93605197	93605197	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr3:93605197T>A	ENST00000394236.3	-	11	1622	c.1306A>T	c.(1306-1308)Agt>Tgt	p.S436C	PROS1_ENST00000407433.1_Missense_Mutation_p.S305C	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	436	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	ATGAGTTCACTTTCCACTTTC	0.383000													15	110					0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148857949	148857949	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr3:148857949T>C	ENST00000296051.2	+	2	516	c.376T>C	c.(376-378)Tac>Cac	p.Y126H	HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	126						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGACCAGATGTACATTATTGA	0.448000									Hermansky-Pudlak syndrome				22	125					0	0	1	0	0
ASCC2	84164	broad.mit.edu	37	22	30202490	30202490	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr22:30202490A>C	ENST00000397771.2	-	12	1246	c.1069T>G	c.(1069-1071)Ttg>Gtg	p.L357V	ASCC2_ENST00000307790.3_Missense_Mutation_p.L357V|ASCC2_ENST00000542393.1_Missense_Mutation_p.L281V|ASCC2_ENST00000478812.1_5'UTR			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			TCCTGCAGCAAGGAGCTGAAG	0.547000													28	22					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22929856	22929856	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr15:22929856T>C	ENST00000313077.7	+	6	655	c.530T>C	c.(529-531)aTg>aCg	p.M177T	CYFIP1_ENST00000560848.1_Missense_Mutation_p.M177T	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	177					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)		CTGAAGAACATGAAGTGCAGT	0.577000													7	44					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185902932	185902932	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr1:185902932G>A	ENST00000271588.4	+	11	2033	c.1804G>A	c.(1804-1806)Gct>Act	p.A602T	HMCN1_ENST00000367492.2_Missense_Mutation_p.A602T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	602	Ig-like C2-type 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCATCAGCCGCTTCAGTTTT	0.403000													17	78					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16959698	16959698	+	RNA	SNP	G	G	A	rs9730434	by1000genomes	TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr1:16959698G>A	ENST00000412962.1	-	0	74																		p.H56H(4)									GGTCCTTCTCGTGGAGCACCT	0.657000													5	23					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40584626	40584626	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr21:40584626C>A	ENST00000342449.3	-	34	3944	c.3866G>T	c.(3865-3867)aGt>aTt	p.S1289I	BRWD1_ENST00000333229.2_Missense_Mutation_p.S1289I|BRWD1_ENST00000380800.3_Missense_Mutation_p.S1289I	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AGGAAGATCACTATCATCCTA	0.294000													12	49					0.000151284	0.000154762	1	1	0
OR4C16	219428	broad.mit.edu	37	11	55340437	55340437	+	Silent	SNP	T	T	A	rs138855448	byFrequency	TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr11:55340437T>A	ENST00000314634.3	+	1	834	c.834T>A	c.(832-834)tcT>tcA	p.S278S		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TTGGAACATCTTTTCTCAACC	0.378000													10	65					0	0	1	0	0
CHRDL2	25884	broad.mit.edu	37	11	74424521	74424521	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr11:74424521C>T	ENST00000376332.3	-	3	695	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.A67T	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	67	VWFC 1.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CTCACATGGGCGCCCTGAAGG	0.582000													5	34					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27948936	27948936	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr9:27948936G>T	ENST00000379992.2	-	6	2183	c.1734C>A	c.(1732-1734)gaC>gaA	p.D578E	LINGO2_ENST00000308675.3_Missense_Mutation_p.D578E	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	578						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CATACTCAAGGTCAATGCTGT	0.478000													15	63					1.05317e-09	1.14308e-09	1	1	0
CAD	790	broad.mit.edu	37	2	27455407	27455407	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr2:27455407C>T	ENST00000264705.4	+	18	2899	c.2737C>T	c.(2737-2739)Cag>Tag	p.Q913*	CAD_ENST00000403525.1_Nonsense_Mutation_p.Q850*|CAD_ENST00000464159.1_3'UTR	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	913	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GTGGCCAGCCCAGACAAATTA	0.522000													31	38					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063011	9063011	+	Silent	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr19:9063011C>T	ENST00000397910.4	-	3	24638	c.24435G>A	c.(24433-24435)gtG>gtA	p.V8145V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8147	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACCAGTGGGCACTCCAGAAA	0.542000													12	79					0	0	1	0	0
IL17RB	55540	broad.mit.edu	37	3	53889347	53889347	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr3:53889347delA	ENST00000288167.3	+	6	517	c.508delA	c.(508-510)aafs	p.K172fs		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	172					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		AATGAAATATAAAAAAAAGTG	0.383													8	199	---	---	---	---					
ZNF876P	0	broad.mit.edu	37	4	217874	217874	+	RNA	DEL	G	G	-			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr4:217874delG	ENST00000356347.3	+	0	172					NR_027481.1																						ggctgcttcagggagcacagc	0.537													7	30	---	---	---	---					
HGSNAT	138050	broad.mit.edu	37	8	43025733	43025733	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr8:43025733delG	ENST00000458501.2	+	7	723	c.723delG	c.(721-723)ctfs	p.L241fs	HGSNAT_ENST00000379644.4_Frame_Shift_Del_p.L213fs			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	241					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TGAAGGAGCTGGGATCTCCCA	0.473													2	4	---	---	---	---					
CHD7	55636	broad.mit.edu	37	8	61693702	61693703	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr8:61693702_61693703insA	ENST00000423902.2	+	3	2288_2289	c.1809_1810insA	c.(1807-1812)aaaccafs	p.P604fs	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Frame_Shift_Ins_p.P604fs	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	604	Lys-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAAAGAAAAACAACCACATTGT	0.431													6	6	---	---	---	---					
EID3	493861	broad.mit.edu	37	12	104697887	104697887	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr12:104697887delG	ENST00000527879.1	+	1	371	c.175delG	c.(175-177)tgfs	p.V59fs	TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000354940.6_Intron	NM_001008394.2	NP_001008395.1	Q8N140	EID3_HUMAN	EP300 interacting inhibitor of differentiation 3	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGAGGACATCGTGAGCTCGGC	0.617													12	52	---	---	---	---					
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs3832971		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gcg>g	p.EA38del	MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773													2	4	---	---	---	---					
RP11-26F2.1	0	broad.mit.edu	37	15	23131706	23131706	+	RNA	DEL	A	A	-			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr15:23131706delA	ENST00000560053.1	-	0	129																											GATATTCTCCAATGTCATTTT	0.259													2	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578485	7578485	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr17:7578485delA	ENST00000420246.2	-	5	577	c.445delT	c.(445-447)ccfs	p.S149fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.S149fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.S149fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.S149fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.S149fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S149fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	149	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (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.0?(8)|p.S149fs*32(5)|p.S149P(4)|p.S149T(2)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.W146_S149>C(1)|p.Q144fs*16(1)|p.S149fs*21(1)|p.D148fs*23(1)|p.S149fs*31(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.V143_S149del(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)		GGGGGTGTGGAATCAACCCAC	0.602		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	12	---	---	---	---					
TRAPPC8	22878	broad.mit.edu	37	18	29446818	29446820	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr18:29446818_29446820delGAC	ENST00000283351.4	-	18	2917_2919	c.2582_2584delGTC	c.(2581-2586)tac>t	p.CH861del	TRAPPC8_ENST00000582539.1_In_Frame_Del_p.CH807del	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	861					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTACCTGTGTGACATCCGGGAAG	0.384													32	73	---	---	---	---					
FAM98C	147965	broad.mit.edu	37	19	38899416	38899416	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr19:38899416delG	ENST00000252530.5	+	8	963	c.944delG	c.(943-945)cgfs	p.R315fs	FAM98C_ENST00000343358.7_Frame_Shift_Del_p.R233fs|FAM98C_ENST00000588262.1_Frame_Shift_Del_p.P181fs	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	315								p.R315L(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTTCCAGACCGGGGGGGCCGC	0.562													14	62	---	---	---	---					
