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
TGFB1	7040	broad.mit.edu	37	19	41858677	41858677	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:41858677C>G	ENST00000221930.5	-	1	1139	c.273G>C	c.(271-273)gaG>gaC	p.E91D	TMEM91_ENST00000539627.1_Intron	NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	91					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	GTTCTGCACTCTCCCCGGCCA	0.721000											OREG0025483	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	18					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103205840	103205840	+	Missense_Mutation	SNP	C	C	T	rs147657490	byFrequency	TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:103205840C>T	ENST00000428762.1	-	34	5254	c.5095G>A	c.(5095-5097)Gaa>Aaa	p.E1699K	RELN_ENST00000343529.5_Missense_Mutation_p.E1699K|RELN_ENST00000424685.2_Missense_Mutation_p.E1699K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1699					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACACACTCTTCGGTGACAAGA	0.478000													7	37					0	0	1	0	0
TECTB	6975	broad.mit.edu	37	10	114063023	114063023	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr10:114063023G>A	ENST00000369422.3	+	10	943	c.943G>A	c.(943-945)Gtt>Att	p.V315I		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	315						anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GTCCACAGATGTTCTCCACCA	0.498000													58	43					0	0	1	0	0
CPT2	1376	broad.mit.edu	37	1	53676585	53676585	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:53676585G>A	ENST00000371486.3	+	4	1754	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	413					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	TCACGGTGCAGAAACTCAACT	0.478000													6	27					0	0	1	0	0
NSUN2	54888	broad.mit.edu	37	5	6632788	6632788	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:6632788C>T	ENST00000264670.6	-	2	489	c.178G>A	c.(178-180)Gag>Aag	p.E60K	NSUN2_ENST00000506139.1_Missense_Mutation_p.E60K|NSUN2_ENST00000539938.1_5'UTR	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	60						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CACTCGCCCTCGGGCACGATC	0.562000													9	123					0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990047	39990047	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:39990047C>T	ENST00000332312.3	-	4	2354	c.2162G>A	c.(2161-2163)aGa>aAa	p.R721K		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	721						proteinaceous extracellular matrix		p.R721K(1)|p.R721I(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CAGGCCCTCTCTGGGCCTCAG	0.672000													4	28					0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116692567	116692567	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:116692567C>T	ENST00000357780.3	-	3	321	c.207G>A	c.(205-207)gtG>gtA	p.V69V		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		cgtAAGTGTTCACTTCTCCAA	0.532000													37	90					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45632418	45632418	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:45632418C>T	ENST00000297323.7	+	2	722	c.700C>T	c.(700-702)Ctg>Ttg	p.L234L	ADCY1_ENST00000432715.1_Silent_p.L9L	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	234					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TGTGCGGATTCTGACTGAGCG	0.572000													55	127					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106845221	106845221	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chrX:106845221C>T	ENST00000276185.4	+	16	4051	c.4051C>T	c.(4051-4053)Ccc>Tcc	p.P1351S				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1351						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GACACCAGTGCCCAGCCTCCG	0.687000													3	31					0	0	1	0	0
ETV7	51513	broad.mit.edu	37	6	36353323	36353323	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:36353323G>A	ENST00000373738.1	-	2	975	c.130C>T	c.(130-132)Cca>Tca	p.P44S	ETV7_ENST00000340181.4_Missense_Mutation_p.P44S|ETV7_ENST00000373737.4_Missense_Mutation_p.P44S|ETV7_ENST00000339796.5_Missense_Mutation_p.P44S|ETV7_ENST00000538992.1_Intron	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN	ets variant 7	44	PNT.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						AGTCTTCCTGGCAGCTTGCAG	0.473000													61	83					0	0	1	0	0
CTH	1491	broad.mit.edu	37	1	70897772	70897772	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:70897772G>A	ENST00000411986.2	+	7	833	c.635G>A	c.(634-636)gGa>gAa	p.G212E	CTH_ENST00000346806.2_Missense_Mutation_p.G200E|CTH_ENST00000370938.3_Missense_Mutation_p.G244E	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN	cystathionase (cystathionine gamma-lyase)	244					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GCAGCTCTTGGAGCAGTTCCA	0.438000													6	24					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142199099	142199099	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr8:142199099G>A	ENST00000519811.1	+	19	3169	c.3099G>A	c.(3097-3099)atG>atA	p.M1033I	DENND3_ENST00000424248.1_Missense_Mutation_p.M901I|DENND3_ENST00000262585.2_Missense_Mutation_p.M953I|DENND3_ENST00000523308.1_Missense_Mutation_p.M3I			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	953										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GCATGGTGATGGCCGACCAGA	0.512000													8	51					0	0	1	0	0
BUB1B	701	broad.mit.edu	37	15	40462759	40462759	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr15:40462759G>A	ENST00000287598.6	+	4	456	c.261G>A	c.(259-261)caG>caA	p.Q87Q	BUB1B_ENST00000412359.3_Silent_p.Q101Q|BUB1B_ENST00000560120.1_3'UTR	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	87	BUB1 N-terminal.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GGACAGAGCAGAACTATCCTC	0.378000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				3	33					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109805502	109805502	+	Missense_Mutation	SNP	G	G	A	rs150273941		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:109805502G>A	ENST00000271332.3	+	7	4680	c.4619G>A	c.(4618-4620)cGg>cAg	p.R1540Q		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1540	Laminin G-like 1.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTCCGAATGCGGCAGTTCGTG	0.637000													11	51					0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751183	26751183	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:26751183G>A	ENST00000396641.2	+	2	612	c.20G>A	c.(19-21)tGg>tAg	p.W7*	LRRC3B_ENST00000456208.2_Nonsense_Mutation_p.W7*|LRRC3B_ENST00000417744.1_Nonsense_Mutation_p.W7*	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	7						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						GTAGACCTGTGGTTAACCCGT	0.473000													14	60					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94884146	94884146	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr15:94884146A>G	ENST00000357742.4	+	6	962	c.962A>G	c.(961-963)aAg>aGg	p.K321R	MCTP2_ENST00000543482.1_Missense_Mutation_p.K321R|MCTP2_ENST00000451018.3_Missense_Mutation_p.K321R|MCTP2_ENST00000331706.4_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	321					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GGTGATTTCAAGAGACACGTA	0.378000													7	21					0	0	1	0	0
UBE4A	9354	broad.mit.edu	37	11	118253482	118253482	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:118253482G>T	ENST00000252108.3	+	13	2319	c.2188G>T	c.(2188-2190)Gaa>Taa	p.E730*	UBE4A_ENST00000545354.1_Nonsense_Mutation_p.E202*|UBE4A_ENST00000431736.2_Nonsense_Mutation_p.E737*	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	730					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGTGGACATCGAATTTACAGG	0.443000													9	57					0.000442599	0.000454643	1	1	0
TP53	7157	broad.mit.edu	37	17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:7577046C>A	ENST00000420246.2	-	8	1024	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_ENST00000269305.4_Nonsense_Mutation_p.E298*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	298	Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (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.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(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)		GGGGGCAGCTCGTGGTGAGGC	0.567000		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)			39	31					2.95478e-19	3.38009e-19	1	1	0
TOPBP1	11073	broad.mit.edu	37	3	133374295	133374295	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:133374295T>C	ENST00000260810.5	-	6	712	c.581A>G	c.(580-582)gAt>gGt	p.D194G	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	194					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						ACACTTGAAATCTTCCATGTT	0.328000								Other conserved DNA damage response genes					3	30					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	199011517	199011517	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:199011517T>C	ENST00000428675.1	+	6	3517	c.3119T>C	c.(3118-3120)cTg>cCg	p.L1040P	PLCL1_ENST00000437704.2_Missense_Mutation_p.L942P	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1040					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CAAGGAGATCTGTTGAAGAAT	0.478000													20	31					0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209964161	209964161	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:209964161G>A	ENST00000367021.3	-	7	911	c.739C>T	c.(739-741)Cag>Tag	p.Q247*	IRF6_ENST00000542854.1_Nonsense_Mutation_p.Q152*	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	247					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CGGCAGCCCTGAGGGTTGCTC	0.572000										HNSCC(57;0.16)			10	60					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6999461	6999461	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr18:6999461A>G	ENST00000389658.3	-	32	4739	c.4646T>C	c.(4645-4647)aTg>aCg	p.M1549T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1549	Laminin EGF-like 17.				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)	ATCTGTTTCCATCAGAATGTG	0.522000													5	43					0	0	1	0	0
SOX2	6657	broad.mit.edu	37	3	181430499	181430499	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:181430499G>A	ENST00000325404.1	+	1	778	c.351G>A	c.(349-351)aaG>aaA	p.K117K	SOX2_ENST00000431565.2_Silent_p.K117K	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	117					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			GGAAAACCAAGACGCTCATGA	0.662000			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						8	70					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328078	57328078	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:57328078G>A	ENST00000326441.9	-	10	2095	c.1732C>T	c.(1732-1734)Ctg>Ttg	p.L578L	PEG3_ENST00000593695.1_Silent_p.L452L|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Silent_p.L578L|PEG3_ENST00000598410.1_Silent_p.L454L	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	578					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGCTCAATCAGGGCAGAACTA	0.473000													20	54					0	0	1	0	0
INSIG1	3638	broad.mit.edu	37	7	155090046	155090046	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:155090046G>A	ENST00000340368.4	+	2	262	c.51G>A	c.(49-51)gcG>gcA	p.A17A	INSIG1_ENST00000344756.4_Silent_p.A17A|INSIG1_ENST00000342407.5_Silent_p.A17A	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	17					cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCACAGCGCGAGGCGCCGAG	0.687000													4	11					0	0	1	0	0
LARS	51520	broad.mit.edu	37	5	145537113	145537113	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:145537113C>A	ENST00000394434.2	-	10	1084	c.918G>T	c.(916-918)tgG>tgT	p.W306C	LARS_ENST00000510191.1_Missense_Mutation_p.W252C|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000545646.1_Missense_Mutation_p.W260C|LARS_ENST00000274562.9_Missense_Mutation_p.W279C	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	306	Editing domain.				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CAGGACGAACCCAACAATTTG	0.398000													8	35					1.12685e-05	1.17754e-05	1	1	0
SYT15	83849	broad.mit.edu	37	10	46962018	46962018	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr10:46962018C>G	ENST00000374323.3	-	7	1964	c.1377G>C	c.(1375-1377)aaG>aaC	p.K459N	SYT15_ENST00000374321.4_Missense_Mutation_p.K406N|SYT15_ENST00000374325.3_Intron|SYT15_ENST00000503753.1_Intron|RP11-38L15.3_ENST00000506914.1_RNA			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	406						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TCACCAGCTCCTTGGGCTTGC	0.667000													30	96					0	0	1	0	0
SNAPC3	6619	broad.mit.edu	37	9	15453088	15453088	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr9:15453088C>G	ENST00000380821.3	+	7	1041	c.865C>G	c.(865-867)Cag>Gag	p.Q289E	SNAPC3_ENST00000380799.1_Missense_Mutation_p.Q86E	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	289					regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		TGGAAAGTTTCAGACTGCTAG	0.383000													6	83					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43419532	43419532	+	Silent	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:43419532G>T	ENST00000039989.4	+	8	941	c.927G>T	c.(925-927)ggG>ggT	p.G309G	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Silent_p.G309G	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	309							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AGATGCTTGGGGAATATAACC	0.448000													5	77					5.9392e-07	6.31563e-07	1	1	0
PPP1R12A	4659	broad.mit.edu	37	12	80203692	80203692	+	Silent	SNP	A	A	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:80203692A>G	ENST00000450142.2	-	10	1604	c.1338T>C	c.(1336-1338)taT>taC	p.Y446Y	PPP1R12A_ENST00000437004.2_Silent_p.Y446Y|PPP1R12A_ENST00000546369.1_Silent_p.Y359Y|PPP1R12A_ENST00000261207.5_Silent_p.Y446Y|PPP1R12A_ENST00000550107.1_Silent_p.Y446Y	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	446						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						CAAGTGCACCATAGCTGCCCG	0.438000													17	9					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121684554	121684554	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:121684554C>G	ENST00000393386.2	+	23	6427	c.6016C>G	c.(6016-6018)Cat>Gat	p.H2006D	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.H1139D	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2006					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAGTCATATTCATGCCTATGT	0.433000													6	46					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44891190	44891190	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:44891190C>A	ENST00000330997.4	-	4	1281	c.1217G>T	c.(1216-1218)gGc>gTc	p.G406V	ZNF285_ENST00000591679.1_Missense_Mutation_p.G413V|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.G406V	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						AAAGCACTTGCCACACTCACT	0.493000													16	29					5.01169e-05	5.20114e-05	1	1	0
KIF20B	9585	broad.mit.edu	37	10	91528090	91528090	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr10:91528090C>G	ENST00000416354.1	+	30	5195	c.5123C>G	c.(5122-5124)aCt>aGt	p.T1708S	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000371728.3_Missense_Mutation_p.T1678S|KIF20B_ENST00000260753.4_Missense_Mutation_p.T1638S			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1678	Interaction with PIN1.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ACACCCAGAACTAATTTGAAA	0.289000													8	27					0	0	1	0	0
WSB2	55884	broad.mit.edu	37	12	118480989	118480989	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:118480989G>A	ENST00000315436.3	-	3	517	c.376C>T	c.(376-378)Ctt>Ttt	p.L126F	WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000544233.1_Intron|WSB2_ENST00000535496.1_Missense_Mutation_p.L128F|WSB2_ENST00000441406.2_Missense_Mutation_p.L143F|WSB2_ENST00000542304.1_5'UTR	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	126					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCGTAGCAAGAACCAGGCAA	0.617000													23	101					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79318747	79318747	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr9:79318747G>A	ENST00000428286.1	-	9	7905	c.6705C>T	c.(6703-6705)ttC>ttT	p.F2235F	PRUNE2_ENST00000376718.3_Silent_p.F2594F			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2594					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATGTGTCTGGGAAGCTTGCTA	0.433000													5	54					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17168789	17168789	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr10:17168789G>T	ENST00000377833.4	-	4	423	c.358C>A	c.(358-360)Ctt>Att	p.L120I	CUBN_ENST00000377823.1_Missense_Mutation_p.L120I	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	120					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.L120V(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTCTCTCAAGATCCACCAGC	0.408000													7	32					0.00198382	0.00203089	1	1	0
SEMA3D	223117	broad.mit.edu	37	7	84651774	84651774	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:84651774C>T	ENST00000284136.6	-	11	1390	c.1347G>A	c.(1345-1347)ctG>ctA	p.L449L	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	449	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CTATCTGTGTCAGTCTGTAAT	0.403000													19	145					0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116758059	116758059	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:116758059C>T	ENST00000331677.3	+	7	2872	c.2428C>T	c.(2428-2430)Cga>Tga	p.R810*	DSE_ENST00000537543.1_Nonsense_Mutation_p.R829*|DSE_ENST00000452085.3_Nonsense_Mutation_p.R810*|DSE_ENST00000359564.2_Nonsense_Mutation_p.R810*			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	810					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AAAGAAAAACCGAAGGGCAGG	0.413000													16	41					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													8	76					0	0	1	0	0
PGAM2	5224	broad.mit.edu	37	7	44102506	44102506	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:44102506C>T	ENST00000297283.3	-	3	676	c.619G>A	c.(619-621)Gag>Aag	p.E207K		NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	207					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						AGGTTCAGCTCCATGATCGCC	0.552000													25	58					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53071579	53071579	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr8:53071579C>A	ENST00000276480.7	-	15	2368	c.1685G>T	c.(1684-1686)aGc>aTc	p.S562I		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	562						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTGACCGTAGCTATAAGAGCT	0.532000													35	100					1.61788e-16	1.82996e-16	1	1	0
MAP3K10	4294	broad.mit.edu	37	19	40718876	40718876	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:40718876G>C	ENST00000253055.3	+	7	2005	c.1717G>C	c.(1717-1719)Gag>Cag	p.E573Q		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	573					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGTGGGAGGAGAGGAGAGGTG	0.662000													17	27					0	0	1	0	0
CMTR1	23070	broad.mit.edu	37	6	37442363	37442363	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:37442363A>T	ENST00000373451.4	+	18	2049	c.1885A>T	c.(1885-1887)Aca>Tca	p.T629S		NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN		629					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						AGACCTGAAGACAGAGCTGCC	0.547000													6	43					0	0	1	0	0
PGAM2	5224	broad.mit.edu	37	7	44102419	44102419	+	Missense_Mutation	SNP	C	C	T	rs144070530		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:44102419C>T	ENST00000297283.3	-	3	763	c.706G>A	c.(706-708)Gag>Aag	p.E236K		NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	236					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						ACCGTTTCCTCATCACCCAGG	0.612000													18	46					0	0	1	0	0
POTEM	641455	broad.mit.edu	37	14	20020023	20020023	+	Silent	SNP	G	G	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr14:20020023G>C	ENST00000551509.1	-	1	249	c.198C>G	c.(196-198)cgC>cgG	p.R66R		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	66										endometrium(4)|kidney(1)|lung(4)	9						GGAAGCAGTGGCGGCACCACT	0.597000													18	364					0	0	1	0	0
HLA-B	3106	broad.mit.edu	37	6	31324613	31324613	+	Silent	SNP	C	C	T	rs137854673		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:31324613C>T	ENST00000412585.2	-	2	223	c.195G>A	c.(193-195)gcG>gcA	p.A65A		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CTCTCGGACTCGCGGCGTCGC	0.667000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				4	82					0	0	1	0	0
FLII	2314	broad.mit.edu	37	17	18152027	18152027	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:18152027G>A	ENST00000327031.4	-	18	2252	c.2027C>T	c.(2026-2028)gCa>gTa	p.A676V	FLII_ENST00000545457.2_Missense_Mutation_p.A621V|FLII_ENST00000579294.1_Missense_Mutation_p.A665V|FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Missense_Mutation_p.A590V	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	676	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					AATTTTCTCTGCAAAGAGCCT	0.557000											OREG0024225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	406					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626044	140626044	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:140626044G>A	ENST00000231173.3	+	1	898	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		300	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.E300*(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTTTCAGGAGAAATTCGACT	0.398000													33	41					0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38861368	38861368	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:38861368G>A	ENST00000409235.3	+	29	3531	c.3416G>A	c.(3415-3417)aGc>aAc	p.S1139N	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.S1099N	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1139					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TCCATGTTCAGCTCCAGGATG	0.557000													27	90					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43111249	43111249	+	Silent	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:43111249C>G	ENST00000230419.4	+	14	2363	c.2142C>G	c.(2140-2142)gcC>gcG	p.A714A	PTK7_ENST00000481273.1_Silent_p.A722A|PTK7_ENST00000352931.2_Silent_p.A658A|PTK7_ENST00000349241.2_Silent_p.A584A|PTK7_ENST00000345201.2_Silent_p.A674A	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	714					actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CCGCTGTGGCCTACATCATTG	0.617000											OREG0017450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	78					0	0	1	0	0
NFE2L3	9603	broad.mit.edu	37	7	26224715	26224715	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:26224715G>A	ENST00000056233.3	+	4	1656	c.1397G>A	c.(1396-1398)gGt>gAt	p.G466D		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	466					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GGTGCTGTAGGTGGCTACTAC	0.413000													19	135					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990324	47990324	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:47990324G>A	ENST00000371741.4	-	2	1939	c.1773C>T	c.(1771-1773)ttC>ttT	p.F591F		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	591					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)			CACAGCTAATGAAACTATCAA	0.547000													10	66					0	0	1	0	0
FOXG1	2290	broad.mit.edu	37	14	29237007	29237007	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr14:29237007G>A	ENST00000382535.3	+	2	891	c.522G>A	c.(520-522)aaG>aaA	p.K174K	FOXG1_ENST00000313071.4_Silent_p.K174K			P55316	FOXG1_HUMAN	forkhead box G1	174	Gly-rich.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		agggcgagaagaagAACGGCA	0.682000													5	25					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													4	8					0.150653	0.151154	1	1	0
PLEKHM3	389072	broad.mit.edu	37	2	208795753	208795753	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:208795753C>T	ENST00000457206.1	-	5	2210	c.1783G>A	c.(1783-1785)Gca>Aca	p.A595T	PLEKHM3_ENST00000427836.2_Missense_Mutation_p.A595T|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.A595T			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	595					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGCGGCTCTGCGTGGTGGTAC	0.627000													39	95					0	0	1	0	0
PRMT8	56341	broad.mit.edu	37	12	3659138	3659138	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:3659138C>T	ENST00000382622.3	+	3	688	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	PRMT8_ENST00000452611.2_Missense_Mutation_p.R91W|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	100					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TCTCACTTACCGGAACTCCAT	0.507000													18	176					0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563610	75563610	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:75563610C>A	ENST00000336257.3	-	3	2067	c.673G>T	c.(673-675)Gac>Tac	p.D225Y	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.D231Y	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	225					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	p.D225Y(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GCCCGCGGGTCGCGCACCAGG	0.701000													21	88					1.50039e-11	1.64173e-11	1	1	0
CTD-3074O7.11	0	broad.mit.edu	37	11	66288795	66288795	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:66288795G>C	ENST00000419755.3	+	9	967	c.889G>C	c.(889-891)Gag>Cag	p.E297Q	BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000455748.2_Missense_Mutation_p.E163Q|ZDHHC24_ENST00000526986.1_3'UTR|BBS1_ENST00000318312.7_Missense_Mutation_p.E260Q|BBS1_ENST00000537537.1_Missense_Mutation_p.E148Q|BBS1_ENST00000393994.2_Intron																							GTTTGATGTTGAGTTCCGGCT	0.552000													10	99					0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22159581	22159581	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:22159581G>A	ENST00000389397.4	+	29	3106	c.244G>A	c.(244-246)Gag>Aag	p.E82K	VWA3A_ENST00000389398.5_Missense_Mutation_p.E980K|VWA3A_ENST00000563755.1_Missense_Mutation_p.E82K			A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	980						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GGTGAAGACAGAGCTGGTTTT	0.572000													4	9					0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42678429	42678429	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr15:42678429C>T	ENST00000397163.3	+	3	663	c.444C>T	c.(442-444)gtC>gtT	p.V148V	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Silent_p.V148V|CAPN3_ENST00000318023.7_Silent_p.V148V|CAPN3_ENST00000357568.3_Silent_p.V148V|CAPN3_ENST00000356316.3_Silent_p.V61V	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	148	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TTTTCCGAGTCATACCCCATG	0.552000											OREG0023085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	72					0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25150024	25150024	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr22:25150024C>T	ENST00000332271.5	-	8	1350	c.934G>A	c.(934-936)Gag>Aag	p.E312K	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.E203K|PIWIL3_ENST00000533313.1_Missense_Mutation_p.E203K	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	312	PAZ.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GTTACTTCCTCTCGGATGTTT	0.428000													7	68					0	0	1	0	0
ZNF319	57567	broad.mit.edu	37	16	58031086	58031086	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:58031086G>A	ENST00000299237.2	-	2	1706	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						TGTGTGCGCCGGTGGCGCATC	0.642000													29	48					0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46962030	46962030	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr10:46962030G>A	ENST00000374323.3	-	7	1952	c.1365C>T	c.(1363-1365)ctC>ctT	p.L455L	SYT15_ENST00000374321.4_Silent_p.L402L|SYT15_ENST00000374325.3_Intron|SYT15_ENST00000503753.1_Intron|RP11-38L15.3_ENST00000506914.1_RNA			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	402						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TGGGCTTGCTGAGCATCTCGT	0.682000													17	98					0	0	1	0	0
MCM8	84515	broad.mit.edu	37	20	5966622	5966622	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:5966622A>G	ENST00000378896.3	+	16	2385	c.2008A>G	c.(2008-2010)Att>Gtt	p.I670V	MCM8_ENST00000265187.4_Missense_Mutation_p.I654V|MCM8_ENST00000378883.1_Missense_Mutation_p.I623V|MCM8_ENST00000378886.2_Missense_Mutation_p.I710V	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	670					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GAGAAAGTACATTGGCTATGC	0.453000													22	83					0	0	1	0	0
CCDC18	343099	broad.mit.edu	37	1	93683346	93683346	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:93683346G>C	ENST00000343253.7	+	14	2381	c.1879G>C	c.(1879-1881)Gag>Cag	p.E627Q	CCDC18_ENST00000557479.1_Missense_Mutation_p.E746Q|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.E628Q|CCDC18_ENST00000338949.4_Intron			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	627										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TACAGAGCATGAGAAAATTTG	0.303000													11	25					0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	65838061	65838061	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:65838061A>C	ENST00000320580.4	+	1	137	c.104A>C	c.(103-105)cAg>cCg	p.Q35P		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	35	Gly-rich.|Poly-Gln.				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						ccgccgccgcagcagcagcag	0.796000													3	8					0	0	1	0	0
ARSK	153642	broad.mit.edu	37	5	94927134	94927134	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:94927134G>C	ENST00000380009.4	+	6	1106	c.901G>C	c.(901-903)Gat>Cat	p.D301H		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	301						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TCATCAATTAGATCTTCTTCA	0.343000													23	54					0	0	1	0	0
TWSG1	57045	broad.mit.edu	37	18	9396466	9396466	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr18:9396466G>T	ENST00000262120.5	+	4	603	c.412G>T	c.(412-414)Gaa>Taa	p.E138*	TWSG1_ENST00000581641.1_Nonsense_Mutation_p.E138*	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	138										breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						TTCATTTTTAGAAACTGTGAA	0.443000													24	49					2.89027e-11	3.15112e-11	1	1	0
PABPN1	8106	broad.mit.edu	37	14	23792593	23792593	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr14:23792593A>G	ENST00000397276.2	+	4	555	c.542A>G	c.(541-543)tAt>tGt	p.Y181C	PABPN1_ENST00000557702.1_Missense_Mutation_p.Y53C|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.Y208C|PABPN1_ENST00000216727.4_Missense_Mutation_p.Y181C|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.Y208C|PABPN1_ENST00000556821.1_Missense_Mutation_p.Y53C					poly(A) binding protein, nuclear 1											large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CAGGTGGACTATGGTGCAACA	0.493000													12	34					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158639535	158639535	+	Silent	SNP	A	A	G	rs35932551		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:158639535A>G	ENST00000368148.3	-	13	1821	c.1641T>C	c.(1639-1641)caT>caC	p.H547H	SPTA1_ENST00000368147.3_Silent_p.H547H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	547					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGAATCATAATGGTCATCAC	0.423000													18	168					0	0	1	0	0
FZR1	51343	broad.mit.edu	37	19	3526992	3526992	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:3526992C>T	ENST00000441788.2	+	6	638	c.402C>T	c.(400-402)acC>acT	p.T134T	FZR1_ENST00000395095.3_Silent_p.T134T|FZR1_ENST00000313639.8_Intron	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	134					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTTAGCACCAAGCGCTCCA	0.662000													24	86					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149907004	149907004	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:149907004C>A	ENST00000439741.2	-	5	593	c.343G>T	c.(343-345)Gtc>Ttc	p.V115F	MTMR11_ENST00000369140.3_Missense_Mutation_p.V43F|MTMR11_ENST00000361405.6_Missense_Mutation_p.V115F|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_Missense_Mutation_p.V87F	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	115							phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AGGAGCTGGACTCGGGACAAG	0.547000													31	56					4.11147e-13	4.56495e-13	1	1	0
SLC24A3	57419	broad.mit.edu	37	20	19698188	19698188	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:19698188G>A	ENST00000328041.6	+	16	1933	c.1736G>A	c.(1735-1737)aGg>aAg	p.R579K		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	579						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.R579M(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGAATAGCAGGGGGCTGATC	0.522000													13	422					0	0	1	0	0
LOC653712	653712	broad.mit.edu	37	3	128580634	128580634	+	RNA	SNP	G	G	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:128580634G>C	ENST00000498297.1	-	0	819				RP11-723O4.2_ENST00000480931.1_RNA	NR_034179.1																						CATTGTAGCCGACCACAAAGC	0.567000													13	17					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1272899	1272899	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:1272899G>A	ENST00000447027.1	+	31	14856	c.14798G>A	c.(14797-14799)aGa>aAa	p.R4933K	MUC5B_ENST00000529681.1_Missense_Mutation_p.R4930K			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4930					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCACCCTGAGACCCACTGGC	0.612000													8	37					0	0	1	0	0
EPDR1	54749	broad.mit.edu	37	7	37960738	37960738	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:37960738T>A	ENST00000199448.4	+	1	576	c.197T>A	c.(196-198)cTg>cAg	p.L66Q	EPDR1_ENST00000423717.1_Missense_Mutation_p.L66Q|EPDR1_ENST00000559325.1_Missense_Mutation_p.L186Q|EPDR1_ENST00000476620.1_Intron	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	66					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AGCCGCGCCCTGCTCTCCTAC	0.716000													5	41					0	0	1	0	0
NR2F2	7026	broad.mit.edu	37	15	96877373	96877373	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr15:96877373C>G	ENST00000394166.3	+	2	1900	c.511C>G	c.(511-513)Ccc>Gcc	p.P171A	NR2F2_ENST00000421109.2_Missense_Mutation_p.P38A|NR2F2_ENST00000453270.2_Missense_Mutation_p.P18A|NR2F2_ENST00000394171.2_Missense_Mutation_p.P18A	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	171	Interaction with ZFPM2 (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CAACGGGGATCCCCTCAACTG	0.642000													17	180					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027331	37027331	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chrX:37027331G>T	ENST00000358047.3	+	1	900	c.848G>T	c.(847-849)tGc>tTc	p.C283F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	283										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCATCTCTGCCCAGAGCCT	0.602000													49	26					2.56175e-15	2.88674e-15	1	1	0
ART1	417	broad.mit.edu	37	11	3681097	3681097	+	Silent	SNP	G	G	A	rs139321904	byFrequency	TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:3681097G>A	ENST00000250693.1	+	3	449	c.348G>A	c.(346-348)gtG>gtA	p.V116V		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	116					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	AGCATGGGGTGGCCCTCCTGG	0.682000													8	34					0	0	1	0	0
ZNF548	147694	broad.mit.edu	37	19	57910422	57910422	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:57910422G>C	ENST00000366197.5	+	3	1017	c.767G>C	c.(766-768)aGa>aCa	p.R256T	AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.R268T|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TATGAGTGCAGAGAATGTGGA	0.393000													3	40					0	0	1	0	0
GOLGA7B	401647	broad.mit.edu	37	10	99619295	99619295	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr10:99619295C>T	ENST00000370602.1	+	2	158	c.93C>T	c.(91-93)acC>acT	p.T31T		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	31						Golgi membrane				endometrium(1)|large_intestine(3)|prostate(1)	5						GCGATGGGACCATCTGTCAGT	0.577000													13	55					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108396445	108396445	+	Splice_Site	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:108396445G>A	ENST00000361582.3	+	26	3113	c.2883_splice	c.e26+1	p.L961_splice	DZIP3_ENST00000463306.1_Splice_Site_p.L961_splice	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	961					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CTGAGATACTGGTAAGAAATA	0.398000													14	161					0	0	1	0	0
ZNF747	65988	broad.mit.edu	37	16	30544429	30544429	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:30544429C>A	ENST00000252799.3	-	2	1194	c.527G>T	c.(526-528)cGg>cTg	p.R176L	ZNF747_ENST00000569360.1_Silent_p.T128T|ZNF747_ENST00000535210.1_Silent_p.T128T|ZNF747_ENST00000395094.3_Missense_Mutation_p.R175L|ZNF747_ENST00000568028.1_Silent_p.T128T	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747	176					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			kidney(1)|lung(3)|prostate(1)	5						CCAGGGCTCCCGTCCCTTCCC	0.607000													30	49					4.11147e-13	4.56495e-13	1	1	0
RANBP17	64901	broad.mit.edu	37	5	170345790	170345790	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:170345790G>A	ENST00000523189.1	+	10	1192	c.1028G>A	c.(1027-1029)gGa>gAa	p.G343E		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	343					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TATCAGCTGGGAGAATTAGTT	0.313000			T	TRD@	ALL								9	26					0	0	1	0	0
MPP2	4355	broad.mit.edu	37	17	41955244	41955244	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:41955244G>A	ENST00000269095.4	-	13	1894	c.1590C>T	c.(1588-1590)cgC>cgT	p.R530R	MPP2_ENST00000518766.1_Silent_p.R575R|MPP2_ENST00000523501.1_Silent_p.R519R|MPP2_ENST00000536246.1_Silent_p.R519R|MPP2_ENST00000461854.1_Silent_p.R554R|MPP2_ENST00000377184.3_Silent_p.R547R|MPP2_ENST00000520305.1_Silent_p.R391R	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	554	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TCTGGAGCTCGCGGAAGGTCC	0.602000													20	81					0	0	1	0	0
EXOSC2	23404	broad.mit.edu	37	9	133569283	133569283	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr9:133569283G>A	ENST00000372358.5	+	1	176	c.105G>A	c.(103-105)acG>acA	p.T35T	EXOSC2_ENST00000372351.3_Silent_p.T35T|EXOSC2_ENST00000372352.3_Silent_p.T35T|EXOSC2_ENST00000546165.1_Silent_p.T35T			Q13868	EXOS2_HUMAN	exosome component 2	35					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|positive regulation of cell growth|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|7S RNA binding|protein binding			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)		OV - Ovarian serous cystadenocarcinoma(145;0.000324)		CAATCACTACGGACACAGGAT	0.592000													37	33					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103359294	103359294	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr8:103359294C>G	ENST00000520539.1	-	6	1019	c.413G>C	c.(412-414)gGa>gCa	p.G138A	UBR5_ENST00000521922.1_Missense_Mutation_p.G138A|UBR5_ENST00000220959.4_Missense_Mutation_p.G138A	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	138					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCCACCACTTCCACCCACTCC	0.453000													13	156					0	0	1	0	0
PSMD1	5707	broad.mit.edu	37	2	232026148	232026148	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:232026148C>G	ENST00000308696.6	+	20	2475	c.2313C>G	c.(2311-2313)ttC>ttG	p.F771L	PSMD1_ENST00000373635.4_Missense_Mutation_p.F771L|PSMD1_ENST00000409643.1_Missense_Mutation_p.F771L	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	771					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	AGTTTTGGTTCTGGTTTCCTC	0.463000													9	144					0	0	1	0	0
ACTRT3	84517	broad.mit.edu	37	3	169486048	169486048	+	Silent	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:169486048C>G	ENST00000330368.2	-	2	665	c.291G>C	c.(289-291)ccG>ccC	p.P97P		NM_032487.4	NP_115876.3	Q9BYD9	ARPM1_HUMAN	actin-related protein T3	97						cytoplasm|cytoskeleton											GGCCATCACACGGCTTCAGCT	0.493000													5	111					0	0	1	0	0
GSDMA	284110	broad.mit.edu	37	17	38133089	38133089	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:38133089G>A	ENST00000301659.4	+	12	1234	c.1116G>A	c.(1114-1116)caG>caA	p.Q372Q		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	372					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CGATGGAACAGAACTTCCTGC	0.522000													18	80					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41115660	41115660	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:41115660G>A	ENST00000308370.7	+	14	1768	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	LTBP4_ENST00000545697.1_Missense_Mutation_p.E43K|LTBP4_ENST00000204005.9_Missense_Mutation_p.E553K|LTBP4_ENST00000396819.3_Missense_Mutation_p.E523K|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	590	Cys-rich.|EGF-like 4; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGATGTGGACGAATGTCGCCG	0.706000													4	38					0	0	1	0	0
DBI	1622	broad.mit.edu	37	2	120124575	120124575	+	Translation_Start_Site	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:120124575C>A	ENST00000535617.1	+	0	23				DBI_ENST00000409094.1_De_novo_Start_InFrame|DBI_ENST00000535757.1_De_novo_Start_OutOfFrame|DBI_ENST00000355857.3_De_novo_Start_OutOfFrame	NM_001178041.1	NP_001171512.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)						transport		benzodiazepine receptor binding|fatty-acyl-CoA binding			kidney(1)|lung(4)|skin(1)	6						GCGATCGCTTCCTGGTCCTCG	0.647000													7	15					8.12818e-05	8.40655e-05	1	1	0
PON3	5446	broad.mit.edu	37	7	94989368	94989368	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:94989368G>A	ENST00000265627.5	-	9	992	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	PON3_ENST00000427422.1_3'UTR|PON1_ENST00000542556.1_Intron	NM_000940.2	NP_000931.1			paraoxonase 3											breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			GAGGTGCCCTGAAGCACAGAG	0.453000													10	117					0	0	1	0	0
CCDC82	79780	broad.mit.edu	37	11	96106622	96106622	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:96106622C>A	ENST00000278520.5	-	5	1429	c.1001G>T	c.(1000-1002)aGt>aTt	p.S334I	CCDC82_ENST00000542662.1_Missense_Mutation_p.S334I|CCDC82_ENST00000423339.2_Missense_Mutation_p.S334I			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	334							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		ATAGTGGTCACTAAAAGAATC	0.299000													4	29					0.00909568	0.00924881	1	1	0
MRPS5	64969	broad.mit.edu	37	2	95772185	95772185	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:95772185C>G	ENST00000272418.2	-	6	863	c.655G>C	c.(655-657)Gat>Cat	p.D219H		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	219	S5 DRBM.				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						ATCCTGGTATCAAAATCCTCA	0.438000													13	63					0	0	1	0	0
CCNF	899	broad.mit.edu	37	16	2499298	2499298	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:2499298G>T	ENST00000397066.4	+	12	1322	c.1234G>T	c.(1234-1236)Gat>Tat	p.D412Y		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	412					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CACTGTGGTGGATTACAAGGA	0.657000													17	38					3.52763e-06	3.69911e-06	1	1	0
SPTBN2	6712	broad.mit.edu	37	11	66468476	66468476	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:66468476G>A	ENST00000533211.1	-	17	3425	c.3094C>T	c.(3094-3096)Cag>Tag	p.Q1032*	SPTBN2_ENST00000309996.2_Nonsense_Mutation_p.Q1032*|SPTBN2_ENST00000529997.1_Nonsense_Mutation_p.Q1032*			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1032					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCACTGCCTGAGCGGGATGG	0.716000													9	86					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43220495	43220495	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:43220495G>A	ENST00000259750.4	+	3	210	c.127G>A	c.(127-129)Ggg>Agg	p.G43R	TTBK1_ENST00000304139.5_5'UTR	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	43	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GATCGGGGGCGGGGGCTTTGG	0.582000													11	59					0	0	1	0	0
FAM134C	162427	broad.mit.edu	37	17	40733939	40733939	+	Silent	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:40733939G>T	ENST00000309428.5	-	9	1352	c.1293C>A	c.(1291-1293)ctC>ctA	p.L431L	FAM134C_ENST00000585894.1_Silent_p.L334L|FAM134C_ENST00000543197.1_Silent_p.L236L	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	431						integral to membrane				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		TGGGGGACCGGAGGAAGCCTC	0.607000													6	49					0.0215528	0.0218421	1	1	0
ZNF571	51276	broad.mit.edu	37	19	38055701	38055701	+	Silent	SNP	T	T	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:38055701T>C	ENST00000328550.2	-	4	1728	c.1629A>G	c.(1627-1629)tcA>tcG	p.S543S	ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571_ENST00000451802.2_Silent_p.S543S|ZNF540_ENST00000592533.1_Intron|ZNF571_ENST00000593133.1_Silent_p.S543S|ZNF571_ENST00000358744.3_Silent_p.S543S|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGTAAGGTGTGAGCCACGAA	0.423000													26	25					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103491398	103491398	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:103491398C>T	ENST00000358392.2	-	6	1208	c.891G>A	c.(889-891)aaG>aaA	p.K297K	COL11A1_ENST00000370096.3_Intron|COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000512756.1_Intron	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	297	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GATAACTTTTCTTCTTCTTGG	0.363000													7	54					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945551	16945551	+	RNA	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:16945551C>T	ENST00000412962.1	-	0	1968																											GTGTACCCATCAACTTCTCTG	0.637000													17	240					0	0	1	0	0
RFFL	117584	broad.mit.edu	37	17	33339097	33339097	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:33339097G>C	ENST00000315249.7	-	7	1204	c.982C>G	c.(982-984)Ctt>Gtt	p.L328V	RFFL_ENST00000413582.2_Missense_Mutation_p.L320V|RFFL_ENST00000584655.1_Missense_Mutation_p.L292V|RFFL_ENST00000447669.2_Missense_Mutation_p.L328V|RFFL_ENST00000415395.2_Missense_Mutation_p.L328V|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.L237V|RFFL_ENST00000394597.2_Missense_Mutation_p.L328V|RFFL_ENST00000268850.7_Missense_Mutation_p.L292V|RFFL_ENST00000378516.2_Missense_Mutation_p.L320V			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	328					apoptosis	membrane	ligase activity|zinc ion binding	p.L328F(1)		kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CACTCCAGAAGAACACAGTCA	0.502000													11	53					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	40994016	40994016	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chrX:40994016C>T	ENST00000324545.7	+	5	994	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	USP9X_ENST00000378308.2_Missense_Mutation_p.R121C	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	121					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GCGATTTTTCCGTGATGGGCT	0.353000													8	29					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157666098	157666098	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:157666098C>T	ENST00000368184.3	-	7	1155	c.864G>A	c.(862-864)gtG>gtA	p.V288V	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.V288V|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	288	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TCTCTAGATTCACATTAGACA	0.522000													8	62					0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172474892	172474892	+	Silent	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:172474892C>G	ENST00000417960.1	+	5	804	c.327C>G	c.(325-327)ctC>ctG	p.L109L	ECT2_ENST00000441497.2_Silent_p.L110L|ECT2_ENST00000392692.3_Silent_p.L141L|ECT2_ENST00000540509.1_Silent_p.L141L|ECT2_ENST00000427830.1_Silent_p.L110L|ECT2_ENST00000232458.5_Silent_p.L110L	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	110					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TTAATGACCTCTACAAGGCTG	0.343000													10	167					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3245115	3245115	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr8:3245115C>T	ENST00000602557.1	-	19	3241	c.2686G>A	c.(2686-2688)Gtg>Atg	p.V896M	CSMD1_ENST00000539096.1_Missense_Mutation_p.V895M|CSMD1_ENST00000400186.3_Missense_Mutation_p.V896M|CSMD1_ENST00000537824.1_Missense_Mutation_p.V895M|CSMD1_ENST00000542608.1_Missense_Mutation_p.V895M|CSMD1_ENST00000520002.1_Missense_Mutation_p.V896M|CSMD1_ENST00000602723.1_Missense_Mutation_p.V896M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	896	Sushi 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGAAAGTCACTGTGGACCTG	0.612000													7	10					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	90984875	90984875	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr15:90984875T>C	ENST00000268182.5	+	8	911	c.787T>C	c.(787-789)Tac>Cac	p.Y263H	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	263					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GGATATACTTTACCAGGCTAA	0.373000													3	37					0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215345353	215345353	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:215345353G>A	ENST00000444842.2	+	5	800	c.650G>A	c.(649-651)aGt>aAt	p.S217N	KCNK2_ENST00000391894.2_Missense_Mutation_p.S202N|KCNK2_ENST00000391895.2_Missense_Mutation_p.S213N	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	217							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	TGGAATGTTAGTCAGACCAAG	0.398000													17	30					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120373044	120373044	+	Silent	SNP	T	T	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:120373044T>A	ENST00000331113.4	+	2	2168	c.1203T>A	c.(1201-1203)ccT>ccA	p.P401P		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	401					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TTGCTCTACCTGTTCCGGTGA	0.468000													13	36					0	0	1	0	0
STK17A	9263	broad.mit.edu	37	7	43663374	43663374	+	Silent	SNP	A	A	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:43663374A>G	ENST00000319357.5	+	6	986	c.807A>G	c.(805-807)caA>caG	p.Q269Q		NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	269	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ATGATAAACAAGAAACATTCT	0.323000													22	24					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341500	121341500	+	Silent	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:121341500C>G	ENST00000338040.4	+	3	1638	c.1224C>G	c.(1222-1224)ctC>ctG	p.L408L		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	408					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AAAGAGAACTCAAAGGCCACG	0.468000													8	157					0	0	1	0	0
HIST1H2BK	85236	broad.mit.edu	37	6	27114238	27114238	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:27114238C>G	ENST00000396891.4	-	1	381	c.340G>C	c.(340-342)Gag>Cag	p.E114Q	HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.E114Q	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	114					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TTGGTGCCCTCGGACACGGCG	0.582000													22	92					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10696215	10696215	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr18:10696215C>T	ENST00000302079.6	-	43	6707	c.6708G>A	c.(6706-6708)atG>atA	p.M2236I	PIEZO2_ENST00000285141.4_Missense_Mutation_p.M91I|PIEZO2_ENST00000580640.1_Missense_Mutation_p.M2261I|PIEZO2_ENST00000503781.3_Missense_Mutation_p.M2236I|PIEZO2_ENST00000538948.1_Missense_Mutation_p.M193I			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2236						integral to membrane	ion channel activity										GAATGAGGACCATCACCAAAA	0.522000													20	37					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5897558	5897558	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:5897558G>A	ENST00000378961.4	+	3	387	c.183G>A	c.(181-183)ctG>ctA	p.L61L	CHGB_ENST00000488832.1_3'UTR	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	61						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GCCAAGTCCTGAAGACGAGTA	0.542000													27	109					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89880576	89880576	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:89880576G>T	ENST00000534061.1	+	3	503	c.273G>T	c.(271-273)aaG>aaT	p.K91N	NAALAD2_ENST00000525171.1_Missense_Mutation_p.K91N|NAALAD2_ENST00000321955.4_Missense_Mutation_p.K91N|NAALAD2_ENST00000375944.3_Missense_Mutation_p.K91N	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	91					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CCCAGTGGAAGAAATTTGGAC	0.358000													20	30					4.96729e-08	5.31958e-08	1	1	0
TARS2	80222	broad.mit.edu	37	1	150460453	150460453	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:150460453G>C	ENST00000369064.3	+	2	220	c.186G>C	c.(184-186)aaG>aaC	p.K62N	TARS2_ENST00000369054.2_Missense_Mutation_p.K62N|TARS2_ENST00000606933.1_Missense_Mutation_p.K62N|TARS2_ENST00000438568.2_Missense_Mutation_p.K62N	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	62					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GGACTATTAAGATATCACTTC	0.527000													6	58					0	0	1	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166952261	166952261	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:166952261G>A	ENST00000510118.1	-	4	526	c.186C>T	c.(184-186)gtC>gtT	p.V62V	RPS6KA2_ENST00000366863.2_5'UTR|RPS6KA2_ENST00000503859.1_Silent_p.V45V|RPS6KA2_ENST00000405189.3_5'UTR|RPS6KA2_ENST00000481261.2_5'UTR|RPS6KA2_ENST00000265678.4_Silent_p.V37V			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	37	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TCTCCTTCACGACGCCTTCTT	0.547000													11	67					0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116692572	116692572	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:116692572C>T	ENST00000357780.3	-	3	316	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GTGTTCACTTCTCCAAGTTTG	0.537000													38	94					0	0	1	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													5	87					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103053683	103053683	+	Silent	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:103053683C>A	ENST00000264260.2	+	6	1180	c.591C>A	c.(589-591)ctC>ctA	p.L197L	IL18RAP_ENST00000409369.1_Silent_p.L55L	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	197	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						ATGGAAAACTCCTCTCTGTGG	0.348000													16	37					3.41278e-10	3.68093e-10	1	1	0
C4B	721	broad.mit.edu	37	6	31996955	31996955	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:31996955C>T	ENST00000435363.2	+	28	3600	c.3516C>T	c.(3514-3516)atC>atT	p.I1172I	C4B_ENST00000425700.2_Silent_p.I1172I	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1172					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										AAGCCTCCATCTCAAAGGCAA	0.607000													20	120					0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236877175	236877175	+	Missense_Mutation	SNP	C	C	T	rs35347272		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:236877175C>T	ENST00000409538.1	+	12	2685	c.2189C>T	c.(2188-2190)cCg>cTg	p.P730L	AGAP1_ENST00000304032.7_Missense_Mutation_p.P518L|AGAP1_ENST00000428334.2_Missense_Mutation_p.P357L|AGAP1_ENST00000336665.5_Missense_Mutation_p.P465L			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	518					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AAGCTCGACCCGCCCCCCTCC	0.577000													12	34					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625947	29625947	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:29625947T>C	ENST00000278882.3	+	5	571	c.191T>C	c.(190-192)aTt>aCt	p.I64T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T														p.I64T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGATGCAATTGGACCAAGA	0.343000													6	82					0	0	1	0	0
DLST	1743	broad.mit.edu	37	14	75361060	75361060	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr14:75361060G>T	ENST00000334220.4	+	10	779	c.718G>T	c.(718-720)Gag>Tag	p.E240*	DLST_ENST00000334212.6_Nonsense_Mutation_p.E154*|DLST_ENST00000555190.1_3'UTR	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	240					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		GCGTCTGAAGGAGGCCCAGAA	0.458000													22	105					5.26018e-13	5.81895e-13	1	1	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53943722	53943722	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:53943722C>A	ENST00000263634.3	-	6	897	c.763G>T	c.(763-765)Gca>Tca	p.A255S	GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.A182S|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.A182S|ASB3_ENST00000498475.2_5'UTR|ASB3_ENST00000406625.2_Missense_Mutation_p.A290S|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.A293S|GPR75-ASB3_ENST00000482829.1_5'UTR	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN		290					intracellular signal transduction												CCCATTTGTGCAGCTGCATGA	0.408000													41	76					2.35958e-20	2.71983e-20	1	1	0
MED16	10025	broad.mit.edu	37	19	889662	889662	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:889662C>T	ENST00000312090.6	-	4	573	c.423G>A	c.(421-423)gtG>gtA	p.V141V	MED16_ENST00000395808.3_Silent_p.V141V|MED16_ENST00000325464.1_Silent_p.V141V|MED16_ENST00000269814.4_Silent_p.V141V|MED16_ENST00000606828.1_Intron|MED16_ENST00000589119.1_Silent_p.V141V			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	141					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCCAGTTTCACACCATTGT	0.632000													10	25					0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193333484	193333484	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:193333484A>G	ENST00000361510.2	+	3	607	c.373A>G	c.(373-375)Atg>Gtg	p.M125V	OPA1_ENST00000361908.3_Missense_Mutation_p.M125V|OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361715.2_Missense_Mutation_p.M125V|OPA1_ENST00000361828.2_Missense_Mutation_p.M125V|OPA1_ENST00000361150.2_Missense_Mutation_p.M125V|OPA1_ENST00000392438.3_Missense_Mutation_p.M125V	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	125					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GTGGAAAGATATGATACCGGA	0.313000													54	75					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52611296	52611296	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr15:52611296C>T	ENST00000399231.3	-	38	5363	c.5120G>A	c.(5119-5121)cGg>cAg	p.R1707Q	MYO5A_ENST00000356338.6_Missense_Mutation_p.R1680Q|MYO5A_ENST00000399233.2_Missense_Mutation_p.R1704Q|MYO5A_ENST00000553916.1_Missense_Mutation_p.R1705Q|MYO5A_ENST00000358212.6_Missense_Mutation_p.R1732Q	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1707	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CATGTCCTTCCGCAGGAGAAG	0.537000													6	74					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16208700	16208700	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:16208700C>A	ENST00000399408.2	+	24	3362	c.3187C>A	c.(3187-3189)Ctg>Atg	p.L1063M	ABCC1_ENST00000346370.5_Missense_Mutation_p.L997M|ABCC1_ENST00000399410.3_Missense_Mutation_p.L1053M|ABCC1_ENST00000351154.5_Missense_Mutation_p.L994M|ABCC1_ENST00000349029.5_Missense_Mutation_p.L938M|ABCC1_ENST00000345148.5_Missense_Mutation_p.L1053M			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1053	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CGTGGACCTGCTGCACAGCAT	0.597000													8	22					0.000274275	0.0002827	1	1	0
FOXC2	2303	broad.mit.edu	37	16	86601490	86601490	+	Silent	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:86601490C>G	ENST00000320354.4	+	1	634	c.549C>G	c.(547-549)ctC>ctG	p.L183L		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	183					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GGGCCCACCTCAAGGAGCCGC	0.677000									Late-onset Hereditary Lymphedema				4	68					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72086606	72086606	+	Silent	SNP	T	T	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr9:72086606T>C	ENST00000265381.4	-	4	1524	c.1302A>G	c.(1300-1302)agA>agG	p.R434R		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	434	LIN-2/CASK binding.|Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CCAAGCTTTTTCTTGACTGTA	0.333000													10	18					0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31091274	31091274	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr22:31091274G>A	ENST00000332585.6	+	1	482	c.378G>A	c.(376-378)ccG>ccA	p.P126P	OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000446658.2_Silent_p.P126P|OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000382310.3_Silent_p.P126P	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	126					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CATCGGAGCCGCTCTCCCGGG	0.672000													7	65					0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209965672	209965672	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:209965672G>A	ENST00000367021.3	-	6	781	c.609C>T	c.(607-609)ccC>ccT	p.P203P	IRF6_ENST00000542854.1_Silent_p.P108P	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	203					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TAGGTGCCTGGGGTACTTCCA	0.542000										HNSCC(57;0.16)			15	44					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10265729	10265729	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:10265729T>G	ENST00000418404.3	-	3	459	c.296A>C	c.(295-297)gAa>gCa	p.E99A	MYH13_ENST00000252172.4_Missense_Mutation_p.E99A|MYH13_ENST00000570743.1_Missense_Mutation_p.E99A			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	99	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AACAGCAGGTTCATGCAGGTG	0.458000													7	152					0	0	1	0	0
KLHL24	54800	broad.mit.edu	37	3	183381386	183381386	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:183381386C>G	ENST00000454652.1	+	5	1447	c.1061C>G	c.(1060-1062)tCa>tGa	p.S354*	KLHL24_ENST00000242810.6_Nonsense_Mutation_p.S354*|KLHL24_ENST00000476808.1_Nonsense_Mutation_p.S354*			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	354						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TTTACCAAATCAGAGTATGCA	0.373000													7	145					0	0	1	0	0
PMVK	10654	broad.mit.edu	37	1	154901617	154901617	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:154901617G>A	ENST00000368467.3	-	3	500	c.195C>T	c.(193-195)acC>acT	p.T65T		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	65					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTAGGTGCTGGTGTCCAGGA	0.547000													18	81					0	0	1	0	0
NUFIP2	57532	broad.mit.edu	37	17	27613894	27613894	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:27613894G>A	ENST00000225388.4	-	2	1176	c.1118C>T	c.(1117-1119)tCt>tTt	p.S373F	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	373	Ser-rich.					nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TGACACAGAAGAGTTCTGTAT	0.423000													24	101					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237870491	237870491	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:237870491A>T	ENST00000366574.2	+	68	10140	c.9823A>T	c.(9823-9825)Aca>Tca	p.T3275S	RYR2_ENST00000542537.1_Missense_Mutation_p.T3259S|RYR2_ENST00000360064.6_Missense_Mutation_p.T3273S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3275					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCACATGAACACACTTCTAGG	0.473000													10	18					0	0	1	0	0
BPNT1	10380	broad.mit.edu	37	1	220232268	220232268	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:220232268G>A	ENST00000469520.2	-	10	1294	c.845C>T	c.(844-846)gCa>gTa	p.A282V	BPNT1_ENST00000354807.3_Intron|BPNT1_ENST00000322067.7_Missense_Mutation_p.A282V|BPNT1_ENST00000544404.1_Missense_Mutation_p.A227V|BPNT1_ENST00000414869.2_Missense_Mutation_p.A246V			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	282					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		CAGGACTCCTGCAGAGTTCAT	0.393000													14	156					0	0	1	0	0
HAP1	9001	broad.mit.edu	37	17	39881040	39881040	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:39881040C>T	ENST00000393939.2	-	10	1707	c.1698G>A	c.(1696-1698)ctG>ctA	p.L566L	HAP1_ENST00000347901.4_Silent_p.L591L|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Silent_p.L574L|HAP1_ENST00000310778.5_Silent_p.L643L			P54257	HAP1_HUMAN	huntingtin-associated protein 1	643	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TCTTCCACCTCAGCTGCCGCC	0.627000													42	149					0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52845708	52845708	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:52845708C>T	ENST00000252252.3	-	1	202	c.155G>A	c.(154-156)gGa>gAa	p.G52E		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	52	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GCCAGCTCCTCCACATGCGCC	0.662000													34	81					0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75648327	75648327	+	Missense_Mutation	SNP	G	G	A	rs139418901		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr15:75648327G>A	ENST00000565683.1	-	26	3105	c.3094C>T	c.(3094-3096)Cgg>Tgg	p.R1032W	MAN2C1_ENST00000563622.1_Missense_Mutation_p.R916W|MAN2C1_ENST00000267978.5_Missense_Mutation_p.R1015W|MAN2C1_ENST00000569482.1_Missense_Mutation_p.R992W	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	1015					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CGGTTGTCCCGAAGGGTCAAG	0.627000													7	29					0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91518595	91518595	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr10:91518595G>A	ENST00000416354.1	+	27	4798	c.4726G>A	c.(4726-4728)Gaa>Aaa	p.E1576K	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000371728.3_Missense_Mutation_p.E1546K|KIF20B_ENST00000260753.4_Missense_Mutation_p.E1506K|KIF20B_ENST00000394289.2_Missense_Mutation_p.E1546K			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1546	Interaction with PIN1.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GAAAGATAATGAAATTGAACA	0.323000													7	7					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V														p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													5	111					0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107956591	107956591	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr4:107956591C>A	ENST00000285311.3	-	1	863	c.158G>T	c.(157-159)cGa>cTa	p.R53L	DKK2_ENST00000510463.1_Intron|DKK2_ENST00000513208.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	53					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GCCCGCAGATCGATTGGCGGC	0.577000													7	64					0.0381472	0.03853	1	1	0
SMPDL3A	10924	broad.mit.edu	37	6	123118043	123118043	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:123118043C>T	ENST00000368440.4	+	3	578	c.401C>T	c.(400-402)aCc>aTc	p.T134I	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.T3I|SMPDL3A_ENST00000487215.1_3'UTR	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	134					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		AATATGACAACCACCATCCAG	0.408000													13	22					0	0	1	0	0
PDE3B	5140	broad.mit.edu	37	11	14853295	14853295	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:14853295G>T	ENST00000282096.4	+	9	2419	c.2066G>T	c.(2065-2067)gGa>gTa	p.G689V	PDE3B_ENST00000455098.2_Missense_Mutation_p.G638V	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	689					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GAAAAGATGGGAGAGAAATCA	0.294000													15	17					1.5739e-10	1.70977e-10	1	1	0
RBM27	54439	broad.mit.edu	37	5	145610354	145610354	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:145610354G>T	ENST00000265271.5	+	6	890	c.724G>T	c.(724-726)Gtg>Ttg	p.V242L	RBM27_ENST00000506502.1_Missense_Mutation_p.V242L	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	242					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTGTTACTGTGATCGCACC	0.468000													25	51					3.08376e-08	3.31422e-08	1	1	0
TUBA3D	113457	broad.mit.edu	37	2	132238255	132238255	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:132238255C>G	ENST00000321253.6	+	4	1096	c.989C>G	c.(988-990)gCg>gGg	p.A330G		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	330					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GACGTCAACGCGGCCATCGCC	0.562000													26	66					0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795431	142795431	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chrX:142795431C>T	ENST00000370498.1	-	2	1000	c.247G>A	c.(247-249)Gag>Aag	p.E83K		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	83										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCCTCCTCTTGGACGGGA	0.468000													21	144					0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167353161	167353161	+	Silent	SNP	G	G	A	rs149991945		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:167353161G>A	ENST00000367862.5	+	8	988	c.753G>A	c.(751-753)tcG>tcA	p.S251S	POU2F1_ENST00000429375.2_Silent_p.S199S|POU2F1_ENST00000541643.3_Silent_p.S239S|POU2F1_ENST00000420254.3_Silent_p.S239S|POU2F1_ENST00000452019.1_Silent_p.S239S|POU2F1_ENST00000367866.2_Silent_p.S262S|POU2F1_ENST00000367865.1_3'UTR	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	239					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						TCCTACAGTCGCAGCCAAGCA	0.438000													26	36					0	0	1	0	0
LRSAM1	90678	broad.mit.edu	37	9	130241761	130241761	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr9:130241761G>A	ENST00000323301.4	+	12	1484	c.880G>A	c.(880-882)Gag>Aag	p.E294K	LRSAM1_ENST00000300417.6_Missense_Mutation_p.E294K|LRSAM1_ENST00000373324.4_Missense_Mutation_p.E294K|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Missense_Mutation_p.E294K	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	294					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CCAGAAGGATGAGATCCTTCA	0.617000													9	28					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17837133	17837133	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:17837133C>T	ENST00000378814.5	-	11	1130	c.1131G>A	c.(1129-1131)ctG>ctA	p.L377L	KIF13A_ENST00000378843.2_Silent_p.L377L|KIF13A_ENST00000259711.6_Silent_p.L377L|KIF13A_ENST00000378816.5_Silent_p.L377L|KIF13A_ENST00000378826.2_Silent_p.L377L	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	377					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GCTGCTCTCTCAGTTTCTCGA	0.522000													22	232					0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424594	125424594	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr9:125424594G>C	ENST00000373686.1	+	1	750	c.750G>C	c.(748-750)atG>atC	p.M250I				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TCACAGTAATGACAGAAGGCT	0.408000													43	118					0	0	1	0	0
HSPA8	3312	broad.mit.edu	37	11	122930906	122930906	+	Translation_Start_Site	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:122930906G>T	ENST00000534319.1	-	0	188				HSPA8_ENST00000227378.3_Missense_Mutation_p.A161D|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000534624.1_Missense_Mutation_p.A161D|HSPA8_ENST00000526110.1_Missense_Mutation_p.A142D|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000532636.1_Missense_Mutation_p.A161D|HSPA8_ENST00000453788.2_Missense_Mutation_p.A161D			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8						cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AATAGTTCCAGCATCTTTGGT	0.418000													9	50					7.48243e-07	7.92875e-07	1	1	0
ZNF43	7594	broad.mit.edu	37	19	21991574	21991574	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:21991574C>G	ENST00000594012.1	-	7	1761	c.1247G>C	c.(1246-1248)gGa>gCa	p.G416A	ZNF43_ENST00000354959.4_Missense_Mutation_p.G422A|ZNF43_ENST00000598381.1_Missense_Mutation_p.G416A|ZNF43_ENST00000595461.1_Missense_Mutation_p.G416A	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GGGTTTCTCTCCAGTATGAGT	0.373000													16	43					0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72290389	72290389	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:72290389G>A	ENST00000334456.5	-	27	2540	c.2295C>T	c.(2293-2295)atC>atT	p.I765I	PDE2A_ENST00000540345.1_Silent_p.I756I|PDE2A_ENST00000444035.2_Silent_p.I756I|PDE2A_ENST00000418754.2_Silent_p.I650I|PDE2A_ENST00000376450.3_Silent_p.I509I|PDE2A_ENST00000544570.1_Silent_p.I758I	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	765	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CTGTGGCCAAGATGATGTCCC	0.612000													6	121					0	0	1	0	0
SSH1	54434	broad.mit.edu	37	12	109186365	109186365	+	Silent	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:109186365G>T	ENST00000326495.5	-	14	1683	c.1590C>A	c.(1588-1590)gtC>gtA	p.V530V	SSH1_ENST00000360239.3_Silent_p.V218V|SSH1_ENST00000551165.1_Silent_p.V530V|SSH1_ENST00000326470.5_Silent_p.V541V	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	530					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTCCAGGTGGACCAAGCTGC	0.657000													31	67					1.39806e-14	1.56956e-14	1	1	0
FGA	2243	broad.mit.edu	37	4	155506937	155506937	+	Silent	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr4:155506937G>T	ENST00000302053.3	-	5	1722	c.1644C>A	c.(1642-1644)ggC>ggA	p.G548G	FGA_ENST00000403106.3_Silent_p.G548G	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	548					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CAGATTCTGAGCCCCTAGACT	0.453000													35	26					4.3181e-19	4.921e-19	1	1	0
GNL1	2794	broad.mit.edu	37	6	30520892	30520892	+	Silent	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:30520892C>G	ENST00000376621.3	-	7	1843	c.873G>C	c.(871-873)ctG>ctC	p.L291L		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	291					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CACAGGCTCTCAGCAACTGCT	0.577000													48	194					0	0	1	0	0
CTTN	2017	broad.mit.edu	37	11	70265886	70265886	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:70265886C>T	ENST00000346329.3	+	9	911	c.603C>T	c.(601-603)atC>atT	p.I201I	CTTN_ENST00000376561.3_Silent_p.I201I|CTTN_ENST00000301843.8_Silent_p.I201I	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	cortactin	201						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AATACGGTATCGACAAGGACA	0.418000													9	271					0	0	1	0	0
TAS2R14	50840	broad.mit.edu	37	12	11091155	11091155	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:11091155T>C	ENST00000537503.1	-	1	707	c.652A>G	c.(652-654)Ata>Gta	p.I218V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_5'UTR	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	218					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						TCTCCGGATATTTTGACAGTG	0.423000													14	38					0	0	1	0	0
SYN3	8224	broad.mit.edu	37	22	33376640	33376640	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr22:33376640C>G	ENST00000358763.2	-	3	601	c.359G>C	c.(358-360)cGa>cCa	p.R120P	SYN3_ENST00000332840.5_Missense_Mutation_p.R120P	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	120	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTGCTCCACTCGGATCTCAAT	0.473000													13	134					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227213809	227213809	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:227213809C>G	ENST00000366769.3	-	30	5663	c.4372G>C	c.(4372-4374)Gat>Cat	p.D1458H	CDC42BPA_ENST00000535525.1_Missense_Mutation_p.D1438H|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.D1458H|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.D1493H|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.D1377H|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.D1471H|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.D1430H	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1471	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCAAAGATATCAACTGCATTT	0.408000													6	38					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20601267	20601267	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:20601267A>T	ENST00000202677.6	-	11	1383	c.1241T>A	c.(1240-1242)tTg>tAg	p.L414*		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	414					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GGAAGGCAACAAAAATGCCTG	0.428000													6	6					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40947762	40947762	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:40947762C>T	ENST00000246914.5	+	16	3163	c.3142C>T	c.(3142-3144)Cag>Tag	p.Q1048*		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1048					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTCAACCCCTCAGCTCACTTC	0.587000													4	48					0	0	1	0	0
RNF141	50862	broad.mit.edu	37	11	10546740	10546740	+	Splice_Site	SNP	T	T	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:10546740T>A	ENST00000265981.2	-	4	575	c.434_splice	c.e4+1	p.R145_splice	RNF141_ENST00000528665.1_Splice_Site_p.R145_splice	NM_016422.3	NP_057506.2	Q8WVD5	RN141_HUMAN	ring finger protein 141	145							zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		ATTATATACCTTCCCATCCAA	0.353000													8	59					0	0	1	0	0
PDE3B	5140	broad.mit.edu	37	11	14853294	14853294	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:14853294G>T	ENST00000282096.4	+	9	2418	c.2065G>T	c.(2065-2067)Gga>Tga	p.G689*	PDE3B_ENST00000455098.2_Nonsense_Mutation_p.G638*	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	689					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGAAAAGATGGGAGAGAAATC	0.299000													15	17					1.02788e-11	1.1288e-11	1	1	0
SLC38A1	81539	broad.mit.edu	37	12	46594952	46594952	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:46594952G>C	ENST00000398637.5	-	13	1626	c.932C>G	c.(931-933)tCa>tGa	p.S311*	SLC38A1_ENST00000552197.1_Nonsense_Mutation_p.S311*|SLC38A1_ENST00000549049.1_Nonsense_Mutation_p.S311*|SLC38A1_ENST00000546893.1_Nonsense_Mutation_p.S311*|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Nonsense_Mutation_p.S311*	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	311					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			GGAGATGTTTGAAACCATCTG	0.303000													5	18					0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129785675	129785675	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:129785675C>A	ENST00000358825.5	-	17	2649	c.2418G>T	c.(2416-2418)aaG>aaT	p.K806N	PRDM10_ENST00000304538.6_Missense_Mutation_p.K716N|PRDM10_ENST00000526082.1_Missense_Mutation_p.K720N|PRDM10_ENST00000423662.2_Missense_Mutation_p.K720N|PRDM10_ENST00000360871.3_Missense_Mutation_p.K802N|PRDM10_ENST00000528746.1_Missense_Mutation_p.K776N	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	806					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CGGGTCGGAGCTTCCGAATGC	0.602000													39	76					2.40579e-17	2.73139e-17	1	1	0
FLVCR1	28982	broad.mit.edu	37	1	213058711	213058711	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:213058711T>C	ENST00000366971.4	+	5	1367	c.1169T>C	c.(1168-1170)tTa>tCa	p.L390S	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	390					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		CTTTGTGGCTTATGGCTGGAT	0.353000													13	50					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189526213	189526213	+	Silent	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:189526213C>A	ENST00000264731.3	+	4	566	c.477C>A	c.(475-477)ctC>ctA	p.L159L	TP63_ENST00000392461.3_Silent_p.L65L|TP63_ENST00000437221.1_Silent_p.L65L|TP63_ENST00000354600.5_Silent_p.L65L|TP63_ENST00000440651.2_Silent_p.L159L|TP63_ENST00000392460.3_Silent_p.L159L|TP63_ENST00000320472.5_Silent_p.L159L|TP63_ENST00000449992.1_Intron|TP63_ENST00000418709.2_Silent_p.L159L|TP63_ENST00000382063.4_Intron|TP63_ENST00000456148.1_Silent_p.L65L|TP63_ENST00000392463.2_Silent_p.L65L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	159					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TCGATGCTCTCTCTCCATCAC	0.642000										HNSCC(45;0.13)			110	45					1.11181e-28	1.29639e-28	1	1	0
CEP89	84902	broad.mit.edu	37	19	33450813	33450813	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:33450813T>A	ENST00000305768.4	-	3	386	c.298A>T	c.(298-300)Agg>Tgg	p.R100W	CEP89_ENST00000590597.1_Missense_Mutation_p.R100W	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	100						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TACCGAGGCCTCAGCTGTGAG	0.577000													10	40					0	0	1	0	0
XRRA1	143570	broad.mit.edu	37	11	74617424	74617424	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:74617424G>T	ENST00000340360.6	-	10	1170	c.839C>A	c.(838-840)tCa>tAa	p.S280*	XRRA1_ENST00000527087.1_Nonsense_Mutation_p.S280*|XRRA1_ENST00000321448.8_Nonsense_Mutation_p.S47*|RP11-147I3.1_ENST00000533875.1_RNA	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	280					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						CCAGTCTACTGACTCGTCATA	0.453000													15	27					7.93312e-07	8.34774e-07	1	1	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T						ankyrin repeat domain 36C									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													3	33					0	0	1	0	0
PRPS2	5634	broad.mit.edu	37	X	12837736	12837736	+	Missense_Mutation	SNP	G	G	T	rs143528874		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chrX:12837736G>T	ENST00000380668.5	+	5	769	c.641G>T	c.(640-642)cGt>cTt	p.R214L	PRPS2_ENST00000398491.2_Missense_Mutation_p.R217L	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	214	Binding of phosphoribosylpyrophosphate (Potential).				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						GTGAAGGACCGTGTGGCCATC	0.552000													87	104					8.84886e-50	1.04798e-49	1	1	0
FAM105B	90268	broad.mit.edu	37	5	14690362	14690362	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:14690362G>A	ENST00000284274.4	+	6	887	c.809G>A	c.(808-810)gGa>gAa	p.G270E		NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN	family with sequence similarity 105, member B	270										breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					AATGACCCAGGACAGCTTCTG	0.433000													19	40					0	0	1	0	0
RPS6KB2	6199	broad.mit.edu	37	11	67196593	67196593	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:67196593C>T	ENST00000312629.5	+	3	167	c.122C>T	c.(121-123)cCt>cTt	p.P41L	RPS6KB2_ENST00000539188.1_Missense_Mutation_p.P41L|RPS6KB2_ENST00000524814.1_3'UTR	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	41					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GTCCGTAGGCCTGTGGGACAC	0.612000													18	146					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29490346	29490346	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:29490346C>T	ENST00000358273.4	+	4	814	c.431C>T	c.(430-432)tCt>tTt	p.S144F	NF1_ENST00000356175.3_Missense_Mutation_p.S144F|NF1_ENST00000431387.4_Missense_Mutation_p.S144F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	144					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTTTTATTTTCTCTCAGCTGC	0.418000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			7	40					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156461	22156461	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:22156461C>A	ENST00000397126.4	-	4	1523	c.1375G>T	c.(1375-1377)Ggc>Tgc	p.G459C	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_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)				AAGCCTTTGCCACATTCTTCA	0.378000													11	41					3.86212e-05	4.02193e-05	1	1	0
PRKCSH	5589	broad.mit.edu	37	19	11559735	11559735	+	Silent	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:11559735C>G	ENST00000252455.2	+	15	1608	c.1272C>G	c.(1270-1272)gtC>gtG	p.V424V	PRKCSH_ENST00000587327.1_Silent_p.V421V|PRKCSH_ENST00000591462.1_Silent_p.V421V|PRKCSH_ENST00000589838.1_Silent_p.V424V|PRKCSH_ENST00000592741.1_Silent_p.V431V|PRKCSH_ENST00000412601.1_Silent_p.V421V	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	424	PRKCSH.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						ACAGATACGTCTACCGCCTCT	0.642000													8	149					0	0	1	0	0
GP1BA	2811	broad.mit.edu	37	17	4837009	4837009	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:4837009C>T	ENST00000329125.5	+	2	1185	c.1110C>T	c.(1108-1110)atC>atT	p.I370I		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	370										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TGGAATCCATCACATTCTCCA	0.532000													30	144					0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17264947	17264947	+	Silent	SNP	A	A	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr22:17264947A>G	ENST00000331428.5	-	4	1044	c.942T>C	c.(940-942)taT>taC	p.Y314Y		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	314						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGATGGCAGCATATAGCAGTG	0.438000													14	47					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78340264	78340264	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:78340264C>T	ENST00000255189.3	-	6	885	c.857G>A	c.(856-858)cGa>cAa	p.R286Q	DMGDH_ENST00000380311.4_Missense_Mutation_p.R85Q|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	286					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		AGGCAGTTCTCGTTTCAAAGC	0.408000													11	51					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149908102	149908102	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:149908102C>A	ENST00000439741.2	-	2	337	c.87G>T	c.(85-87)atG>atT	p.M29I	MTMR11_ENST00000369140.3_5'UTR|MTMR11_ENST00000361405.6_Missense_Mutation_p.M29I|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_Start_Codon_SNP_p.M1I	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	29							phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TGGGCTCCGGCATCCTATTTT	0.557000													47	62					5.48756e-27	6.37401e-27	1	1	0
THBS4	7060	broad.mit.edu	37	5	79372740	79372740	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:79372740T>A	ENST00000350881.2	+	16	2145	c.1955T>A	c.(1954-1956)cTg>cAg	p.L652Q	CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.L561Q	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	652					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGTGCCCAGCTGGACACCGAT	0.547000													51	116					0	0	1	0	0
PC	5091	broad.mit.edu	37	11	66617885	66617885	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:66617885G>A	ENST00000393960.1	-	19	2805	c.2524C>T	c.(2524-2526)Cgg>Tgg	p.R842W	PC_ENST00000393955.2_Missense_Mutation_p.R842W|PC_ENST00000393958.2_Missense_Mutation_p.R842W	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	842					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	TACAGTCCCCGAGCCCCCTCC	0.587000													4	86					0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161214885	161214885	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:161214885T>A	ENST00000327928.4	+	1	290	c.290T>A	c.(289-291)tTc>tAc	p.F97Y		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	97						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CCAGCTGATTTCTTTTTGAAT	0.448000													49	83					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559051	140559051	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:140559051G>A	ENST00000239444.2	+	1	1681	c.1436G>A	c.(1435-1437)aGa>aAa	p.R479K		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		479	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACAGACAGAGACTCGGGC	0.652000													53	373					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32691487	32691487	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr13:32691487G>T	ENST00000380250.3	+	4	837	c.341G>T	c.(340-342)aGc>aTc	p.S114I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGCTCAATGAGCTCCCTTTCT	0.413000													15	11					6.31663e-08	6.74071e-08	1	1	0
SEPT3	55964	broad.mit.edu	37	22	42390716	42390716	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr22:42390716C>G	ENST00000396425.3	+	10	1140	c.1009C>G	c.(1009-1011)Ccg>Gcg	p.P337A	SEPT3_ENST00000291236.11_Missense_Mutation_p.P273A|SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000406029.1_Missense_Mutation_p.P273A|SEPT3_ENST00000396426.3_Missense_Mutation_p.P337A	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN	septin 3	337					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						AGGCCTCCCTCCGGTGAGCGT	0.532000													24	68					0	0	1	0	0
SCAND1	51282	broad.mit.edu	37	20	34542206	34542206	+	Translation_Start_Site	SNP	T	T	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:34542206T>A	ENST00000373991.3	-	3	1071	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	SCAND1_ENST00000305978.2_Start_Codon_SNP_p.M1L			P57086	SCND1_HUMAN	SCAN domain containing 1	1					viral reproduction	nucleus	identical protein binding|sequence-specific DNA binding transcription factor activity					Breast(12;0.00631)|all_lung(11;0.0233)					GTAGCCGCCATAACTCCAGCT	0.652000													8	37					0	0	1	0	0
SOWAHC	65124	broad.mit.edu	37	2	110373228	110373228	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:110373228G>C	ENST00000356454.3	+	1	1318	c.1162G>C	c.(1162-1164)Gag>Cag	p.E388Q		NM_023016.3	NP_075392.2	Q53LP3	ANR57_HUMAN	sosondowah ankyrin repeat domain family member C	388																	GAGCATCGCCGAGGAGATCAA	0.647000													11	51					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98527677	98527677	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:98527677G>C	ENST00000359863.4	+	24	3450	c.3241G>C	c.(3241-3243)Gaa>Caa	p.E1081Q	TRRAP_ENST00000355540.3_Missense_Mutation_p.E1081Q|TRRAP_ENST00000446306.3_Missense_Mutation_p.E1080Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1081					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCACAGTGAAGAAAATGGCTC	0.488000													24	195					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141201939	141201939	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:141201939C>T	ENST00000389484.3	-	65	11225	c.10254G>A	c.(10252-10254)ggG>ggA	p.G3418G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3418	LDL-receptor class A 23.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTCATCTTGCCCATTACATC	0.388000										TSP Lung(27;0.18)			12	53					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19554770	19554770	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:19554770G>A	ENST00000328405.2	+	13	2654	c.2388G>A	c.(2386-2388)ttG>ttA	p.L796L		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	796						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ACTTGAAATTGCAACTTTCAA	0.428000													37	35					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193068949	193068949	+	Silent	SNP	A	A	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:193068949A>T	ENST00000342358.4	-	7	765	c.648T>A	c.(646-648)acT>acA	p.T216T		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	216					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ACAGCCACAAAGTTAGGGTGA	0.408000													10	88					0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55286721	55286721	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:55286721C>T	ENST00000336077.6	+	4	515	c.475C>T	c.(475-477)Cat>Tat	p.H159Y	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.H159Y|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	159	Ig-like C2-type 2.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		TGACATGTACCATCTATCCAG	0.587000													29	34					0	0	1	0	0
NHP2L1	4809	broad.mit.edu	37	22	42076365	42076365	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr22:42076365C>T	ENST00000401959.1	-	3	323	c.7G>A	c.(7-9)Gag>Aag	p.E3K	NHP2L1_ENST00000402458.1_Missense_Mutation_p.E7K|NHP2L1_ENST00000215956.5_Missense_Mutation_p.E3K|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000355257.3_Missense_Mutation_p.E3K	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	3					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						ACATCAGCCTCAGTCTATGGG	0.473000													6	62					0	0	1	0	0
BTN3A1	11119	broad.mit.edu	37	6	26409843	26409843	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr6:26409843C>T	ENST00000289361.6	+	5	1166	c.798C>T	c.(796-798)gcC>gcT	p.A266A	BTN3A1_ENST00000425234.2_Silent_p.A266A|BTN3A1_ENST00000414912.2_Silent_p.A214A|BTN3A1_ENST00000476549.2_Silent_p.A266A	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	266					lipid metabolic process	integral to membrane		p.A266A(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TTGGGGGAGCCGGTTACTTCC	0.552000													12	80					0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90348580	90348580	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr15:90348580C>T	ENST00000300060.6	-	3	1042	c.729G>A	c.(727-729)ctG>ctA	p.L243L		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	243	Metalloprotease.		L -> P.		angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	ACAGGGCTGTCAGGTCCTTGG	0.642000													8	65					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122599621	122599621	+	Silent	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chrX:122599621C>T	ENST00000264357.5	+	14	2713	c.2421C>T	c.(2419-2421)agC>agT	p.S807S	GRIA3_ENST00000371251.1_Silent_p.S807S|GRIA3_ENST00000542149.1_Silent_p.S807S|GRIA3_ENST00000371256.5_Intron	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	807					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AGTGCGGCAGCGGGGGCGGTG	0.478000													4	42					0	0	1	0	0
C5orf66	100996485	broad.mit.edu	37	5	134678905	134678905	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:134678905G>A	ENST00000432382.3	+	6	1009	c.187G>A	c.(187-189)Gag>Aag	p.E63K	CTC-203F4.1_ENST00000555438.1_Intron|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000511689.1_Intron|H2AFY_ENST00000304332.4_Intron|H2AFY_ENST00000510038.1_Intron|H2AFY_ENST00000512507.1_Intron|H2AFY_ENST00000312469.4_Intron	NM_001277348.1	NP_001264277.1																					TGTGTGCGCAGAGAGACACAC	0.532000													17	51					0	0	1	0	0
PLIN2	123	broad.mit.edu	37	9	19126394	19126394	+	Splice_Site	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr9:19126394C>G	ENST00000276914.2	-	2	210		c.e2+1		PLIN2_ENST00000380465.3_Splice_Site|PLIN2_ENST00000380464.3_Splice_Site|PLIN2_ENST00000411567.1_Splice_Site	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2						cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						AAAATTCATACCGGTTGTGGA	0.418000													30	42					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103414104	103414104	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr14:103414104G>A	ENST00000361246.2	-	27	3773	c.3485C>T	c.(3484-3486)tCa>tTa	p.S1162L		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1162	PH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AATGACATCTGAGGCCAGGAC	0.463000													23	106					0	0	1	0	0
GFOD2	81577	broad.mit.edu	37	16	67709410	67709410	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:67709410C>T	ENST00000268797.7	-	3	1151	c.806G>A	c.(805-807)gGg>gAg	p.G269E	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	269						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		GTTCTTCTGCCCATAGAGGTC	0.627000													9	63					0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94546080	94546080	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr14:94546080C>A	ENST00000330836.5	-	2	140	c.9G>T	c.(7-9)ttG>ttT	p.L3F	DDX24_ENST00000555054.1_Intron|DDX24_ENST00000544005.1_Intron	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	3					RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TTGTGTCCTTCAACTTCATGG	0.413000													102	103					5.19218e-38	6.12515e-38	1	1	0
THADA	63892	broad.mit.edu	37	2	43520026	43520026	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:43520026C>G	ENST00000405006.4	-	32	5116	c.4765G>C	c.(4765-4767)Gag>Cag	p.E1589Q	THADA_ENST00000330266.7_Intron|THADA_ENST00000415080.2_Missense_Mutation_p.E1270Q|THADA_ENST00000405975.2_Missense_Mutation_p.E1589Q	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1589							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AAGAACTTCTCTCCCATGTTG	0.502000													11	58					0	0	1	0	0
ZNF260	339324	broad.mit.edu	37	19	37005172	37005172	+	Silent	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:37005172C>G	ENST00000523638.1	-	3	2090	c.969G>C	c.(967-969)gtG>gtC	p.V323V	ZNF260_ENST00000593142.1_Silent_p.V323V|ZNF260_ENST00000592282.1_Silent_p.V323V|ZNF260_ENST00000588993.1_Silent_p.V323V	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	323					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TATGAATTCTCACATGTACAA	0.388000													6	79					0	0	1	0	0
ACSF3	197322	broad.mit.edu	37	16	89167169	89167169	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:89167169G>T	ENST00000317447.4	+	3	457	c.80G>T	c.(79-81)aGa>aTa	p.R27I	ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Missense_Mutation_p.R27I	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	27					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GCGAGACACAGAGGAAGTGGT	0.687000													11	46					2.68362e-12	2.95786e-12	1	1	0
TCP10L	140290	broad.mit.edu	37	21	33954617	33954617	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr21:33954617G>A	ENST00000300258.3	-	3	366	c.253C>T	c.(253-255)Cag>Tag	p.Q85*	TCP10L_ENST00000491828.1_5'UTR	NM_144659.5	NP_653260.1			t-complex 10-like											breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						TCCATGTTCTGCTCCCTCAAA	0.542000													26	89					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061573	9061573	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:9061573C>T	ENST00000397910.4	-	3	26076	c.25873G>A	c.(25873-25875)Gaa>Aaa	p.E8625K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8627	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						GCTAATATTTCAGCTGAGGTG	0.453000													24	55					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95582918	95582918	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr14:95582918C>T	ENST00000526495.1	-	12	1915	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	DICER1_ENST00000393063.1_Missense_Mutation_p.E542K|DICER1_ENST00000541352.1_Missense_Mutation_p.E542K|DICER1_ENST00000343455.3_Missense_Mutation_p.E542K|DICER1_ENST00000527414.1_Missense_Mutation_p.E542K			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	542	Helicase C-terminal.|Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GATCGATATTCTGTGGGCAAA	0.378000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				13	133					0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68579925	68579925	+	Silent	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:68579925G>T	ENST00000265641.5	-	3	415	c.261C>A	c.(259-261)atC>atA	p.I87I	CPT1A_ENST00000376618.2_Silent_p.I87I|CPT1A_ENST00000540367.1_Silent_p.I87I|CPT1A_ENST00000539743.1_Silent_p.I87I	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	87					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GAGTCCGATTGATTTTTGCAA	0.458000													72	51					4.8811e-34	5.73577e-34	1	1	0
NLRP14	338323	broad.mit.edu	37	11	7065134	7065134	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:7065134G>T	ENST00000299481.4	+	4	2223	c.1877G>T	c.(1876-1878)cGg>cTg	p.R626L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	626					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AAGCACTGCCGGTGTTTGCGG	0.413000													32	40					7.68411e-24	8.8912e-24	1	1	0
KIAA1432	57589	broad.mit.edu	37	9	5765456	5765456	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr9:5765456C>G	ENST00000414202.2	+	20	3075	c.2884C>G	c.(2884-2886)Cta>Gta	p.L962V	KIAA1432_ENST00000449720.2_Missense_Mutation_p.L846V|KIAA1432_ENST00000418622.3_Missense_Mutation_p.L883V|KIAA1432_ENST00000381532.2_Missense_Mutation_p.L883V|KIAA1432_ENST00000251879.6_Missense_Mutation_p.L962V	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	962						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGCTACCCTTCTATTCAACAC	0.418000													20	64					0	0	1	0	0
ZNF319	57567	broad.mit.edu	37	16	58031159	58031159	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:58031159G>A	ENST00000299237.2	-	2	1633	c.1011C>T	c.(1009-1011)caC>caT	p.H337H		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GCTCGGCGCTGTGTGTGCGCT	0.682000													22	20					0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91483766	91483766	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr10:91483766G>A	ENST00000416354.1	+	14	1840	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000371728.3_Missense_Mutation_p.E590K|KIF20B_ENST00000260753.4_Missense_Mutation_p.E590K|KIF20B_ENST00000394289.2_Missense_Mutation_p.E590K			Q96Q89	KI20B_HUMAN	kinesin family member 20B	590					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ACTGATAAATGAAAAAAAGGA	0.284000													6	53					0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	28974434	28974434	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr8:28974434C>G	ENST00000524189.1	-	31	3789	c.3751G>C	c.(3751-3753)Gtg>Ctg	p.V1251L	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1251					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GTCACGCGCACGATCAGGAAC	0.602000													6	96					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40946994	40946994	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr17:40946994C>G	ENST00000246914.5	+	14	2576	c.2555C>G	c.(2554-2556)tCa>tGa	p.S852*		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	852					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CAGGTCTCCTCAAATCCCTCT	0.597000													16	141					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2017122	2017122	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:2017122C>G	ENST00000382722.5	-	5	930	c.568G>C	c.(568-570)Gag>Cag	p.E190Q	CACNA2D4_ENST00000587995.1_Missense_Mutation_p.E190Q|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.E190Q|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.E126Q|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.E190Q|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.E126Q	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	190						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GCATTGGACTCCAGGAGGAAC	0.592000													12	50					0	0	1	0	0
ZNF774	342132	broad.mit.edu	37	15	90903702	90903702	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr15:90903702G>A	ENST00000354377.3	+	4	825	c.639G>A	c.(637-639)gaG>gaA	p.E213E	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGGGGTGTGAGAAGAAATTCA	0.517000													19	34					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140869424	140869424	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:140869424C>G	ENST00000252087.1	+	1	617	c.617C>G	c.(616-618)gCa>gGa	p.A206G	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC3_ENST00000308177.3_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		206	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCCCAGGCAAGACATCAG	0.552000													34	61					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61305169	61305169	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr18:61305169C>G	ENST00000341074.5	-	8	1072	c.957G>C	c.(955-957)tgG>tgC	p.W319C	SERPINB4_ENST00000356424.6_Missense_Mutation_p.W267C	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						GACCGTGGCTCCAGGTCATGC	0.517000													5	68					0	0	1	0	0
TWSG1	57045	broad.mit.edu	37	18	9396470	9396470	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr18:9396470C>A	ENST00000262120.5	+	4	607	c.416C>A	c.(415-417)aCt>aAt	p.T139N	TWSG1_ENST00000581641.1_Missense_Mutation_p.T139N	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	139										breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						TTTTTAGAAACTGTGAACCAG	0.433000													22	51					1.96292e-10	2.12474e-10	1	1	0
SOWAHC	65124	broad.mit.edu	37	2	110373218	110373218	+	Silent	SNP	G	G	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:110373218G>T	ENST00000356454.3	+	1	1308	c.1152G>T	c.(1150-1152)cgG>cgT	p.R384R		NM_023016.3	NP_075392.2	Q53LP3	ANR57_HUMAN	sosondowah ankyrin repeat domain family member C	384																	ACCTGAGTCGGAGCATCGCCG	0.652000													14	53					7.93312e-07	8.34774e-07	1	1	0
MUC3A	4584	broad.mit.edu	37	7	100551948	100551948	+	Silent	SNP	C	C	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:100551948C>A	ENST00000319509.7	+	1	699	c.699C>A	c.(697-699)atC>atA	p.I233I						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TTAGTACCATCATCTGGTCCT	0.418000													59	760					1.59911e-31	1.87183e-31	1	1	0
SNHG24	101929369	broad.mit.edu	37	14	101439050	101439050	+	RNA	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr14:101439050G>A	ENST00000554693.2	+	0	384				SNORD114-15_ENST00000364687.1_RNA																							CATACATGATGAATATGTGTC	0.368000													16	96					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13729585	13729585	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:13729585A>C	ENST00000265104.4	-	69	11950	c.11846T>G	c.(11845-11847)cTt>cGt	p.L3949R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3949					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAGTTTGCTAAGTTCCACCAA	0.383000									Kartagener syndrome				20	50					0	0	1	0	0
RNFT2	84900	broad.mit.edu	37	12	117188112	117188112	+	Splice_Site	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:117188112G>A	ENST00000257575.4	+	4	783	c.550_splice	c.e4+1	p.G184_splice	RNFT2_ENST00000407967.3_Splice_Site_p.G184_splice|RNFT2_ENST00000319176.7_Splice_Site_p.G184_splice|RNFT2_ENST00000392549.2_Splice_Site_p.G184_splice			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	184						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		GCATAAGCTCGGTGAGTTCTG	0.632000													8	10					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17280765	17280765	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:17280765G>A	ENST00000375541.5	+	22	3303	c.3234G>A	c.(3232-3234)ttG>ttA	p.L1078L	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1078					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CAGAGAAGTTGATGGGTACAC	0.642000													29	160					0	0	1	0	0
AADAT	51166	broad.mit.edu	37	4	170999665	170999665	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr4:170999665G>A	ENST00000337664.4	-	4	715	c.439C>T	c.(439-441)Caa>Taa	p.Q147*	AADAT_ENST00000353187.2_Nonsense_Mutation_p.Q147*|AADAT_ENST00000509167.1_Nonsense_Mutation_p.Q151*|AADAT_ENST00000515480.1_Nonsense_Mutation_p.Q147*	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	147					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTCACACTTTGAAGAGTTCCT	0.294000													3	25					0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184714213	184714213	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:184714213A>G	ENST00000287546.4	+	43	3931	c.3760A>G	c.(3760-3762)Aaa>Gaa	p.K1254E	VPS8_ENST00000436792.2_Missense_Mutation_p.K1252E|VPS8_ENST00000446204.2_Missense_Mutation_p.K1162E|VPS8_ENST00000437079.3_Missense_Mutation_p.K1254E	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1254							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			ACTGAATCCCAAACAAGATTA	0.423000													8	154					0	0	1	0	0
ZNF598	90850	broad.mit.edu	37	16	2051070	2051070	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:2051070G>A	ENST00000563630.1	-	7	1213	c.971C>T	c.(970-972)gCg>gTg	p.A324V	ZNF598_ENST00000431526.1_Missense_Mutation_p.A379V|ZNF598_ENST00000562103.1_Missense_Mutation_p.A324V			Q86UK7	ZN598_HUMAN	zinc finger protein 598	379						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TCCCCGCGCCGCTGCCTCCTC	0.711000													4	9					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31022389	31022389	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr20:31022389G>A	ENST00000375687.4	+	13	2298	c.1874G>A	c.(1873-1875)cGa>cAa	p.R625Q	ASXL1_ENST00000306058.5_Missense_Mutation_p.R620Q	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	625					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.A627fs*7(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTGCAGGTCCGAGGGGCGAGA	0.692000			"""F, N, Mis"""		"""MDS, CMML"""								8	43					0	0	1	0	0
CCNT2	905	broad.mit.edu	37	2	135711896	135711896	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:135711896A>G	ENST00000264157.5	+	9	1901	c.1871A>G	c.(1870-1872)aAt>aGt	p.N624S	CCNT2_ENST00000295238.6_Missense_Mutation_p.N624S|CCNT2_ENST00000537343.1_Missense_Mutation_p.N449S	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	624					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		CTGCATGTCAATGATGCATCT	0.473000													21	77					0	0	1	0	0
M1AP	130951	broad.mit.edu	37	2	74834291	74834291	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:74834291C>G	ENST00000290536.5	-	4	602	c.486G>C	c.(484-486)ttG>ttC	p.L162F	M1AP_ENST00000409585.1_Missense_Mutation_p.L162F|M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.L162F	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		CTGTATCTTTCAACCCTTCCT	0.458000													28	92					0	0	1	0	0
SYT13	57586	broad.mit.edu	37	11	45265715	45265715	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:45265715A>T	ENST00000020926.3	-	6	1280	c.1169T>A	c.(1168-1170)cTt>cAt	p.L390H		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	390	C2 2.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GCAGTGGCCAAGCGCACAGCT	0.622000													11	42					0	0	1	0	0
ZNF181	339318	broad.mit.edu	37	19	35232847	35232847	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:35232847G>A	ENST00000392232.3	+	6	1861	c.1693G>A	c.(1693-1695)Gag>Aag	p.E565K	ZNF181_ENST00000492450.1_Missense_Mutation_p.E521K|ZNF181_ENST00000459757.1_Missense_Mutation_p.E520K			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TAAATGTAATGAGTGTGGGAA	0.388000													6	68					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71762192	71762192	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:71762192G>A	ENST00000258104.3	+	14	1603	c.1326G>A	c.(1324-1326)tgG>tgA	p.W442*	DYSF_ENST00000409582.3_Nonsense_Mutation_p.W473*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.W443*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.W443*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.W442*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.W473*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.W474*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.W474*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.W443*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.W473*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.W474*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	442	C2 3.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACCCTCAGTGGAACCAGAACA	0.622000													14	39					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18028690	18028690	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr22:18028690C>T	ENST00000262608.8	+	16	3650	c.3650C>T	c.(3649-3651)tCa>tTa	p.S1217L	CECR2_ENST00000400573.4_Missense_Mutation_p.S1216L|CECR2_ENST00000400585.2_Missense_Mutation_p.S1074L	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1258					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TCCCTCTTCTCAGATAAGAAT	0.557000													14	62					0	0	1	0	0
IRF7	3665	broad.mit.edu	37	11	613570	613570	+	Silent	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:613570C>G	ENST00000397566.1	-	7	1321	c.912G>C	c.(910-912)gtG>gtC	p.V304V	IRF7_ENST00000330243.5_Silent_p.V304V|IRF7_ENST00000397574.2_Silent_p.V291V|IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000348655.6_Silent_p.V262V|IRF7_ENST00000525445.1_Silent_p.V185V|IRF7_ENST00000397570.1_Silent_p.V262V	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	291					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACATGATGGTCACGTCCAGCG	0.682000													5	27					0	0	1	0	0
NME5	8382	broad.mit.edu	37	5	137464973	137464973	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr5:137464973G>A	ENST00000265191.2	-	3	363	c.314C>T	c.(313-315)gCg>gTg	p.A105V	NME5_ENST00000508252.1_5'UTR	NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	NME/NM23 family member 5	105					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)			TGTCTCCTTCGCTACTAAGCT	0.393000													13	53					0	0	1	0	0
SDAD1	55153	broad.mit.edu	37	4	76879075	76879075	+	Silent	SNP	A	A	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr4:76879075A>G	ENST00000356260.5	-	18	1621	c.1503T>C	c.(1501-1503)agT>agC	p.S501S	SDAD1_ENST00000395711.4_Silent_p.S464S	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	501					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCTCACTGAGACTGGTACTTT	0.403000													10	102					0	0	1	0	0
USP1	7398	broad.mit.edu	37	1	62916495	62916495	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr1:62916495C>T	ENST00000339950.4	+	9	3016	c.2201C>T	c.(2200-2202)tCa>tTa	p.S734L	USP1_ENST00000371146.1_Missense_Mutation_p.S734L	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	734					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AACAAAATTTCATACGTAGTG	0.378000													24	48					0	0	1	0	0
EEF1G	1937	broad.mit.edu	37	11	62327592	62327592	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr11:62327592G>A	ENST00000378019.3	-	9	1344	c.1254C>T	c.(1252-1254)agC>agT	p.S418S	EEF1G_ENST00000329251.4_Silent_p.S368S|MIR3654_ENST00000496634.2_3'UTR			P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	368	EF-1-gamma C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAATGGAGCTGCTATTGTTGG	0.537000													32	43					0	0	1	0	0
RNF40	9810	broad.mit.edu	37	16	30774767	30774767	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:30774767G>A	ENST00000324685.6	+	4	764	c.329G>A	c.(328-330)cGa>cAa	p.R110Q	RNF40_ENST00000402121.3_Intron|RNF40_ENST00000563683.1_Missense_Mutation_p.R110Q|RNF40_ENST00000357890.5_Missense_Mutation_p.R110Q	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	110					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GCCCTTCTCCGATGCCATGAG	0.542000													20	87					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179593063	179593063	+	Silent	SNP	A	A	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:179593063A>G	ENST00000589042.1	-	67	19712	c.19488T>C	c.(19486-19488)tcT>tcC	p.S6496S	TTN_ENST00000591111.1_Silent_p.S6179S|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.S5252S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6179	Ig-like 46.						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)			TATGAATAGAAGAGCCCAGAA	0.368000													4	15					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7528319	7528319	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:7528319C>G	ENST00000313599.3	-	10	2720	c.2663G>C	c.(2662-2664)aGa>aCa	p.R888T	CD163L1_ENST00000396630.1_Missense_Mutation_p.R888T|CD163L1_ENST00000416109.2_Missense_Mutation_p.R898T|CD163L1_ENST00000544331.1_5'UTR			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	888	SRCR 8.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCCAACTTCTCTGCTGTGGAT	0.463000													8	90					0	0	1	0	0
ZNF595	152687	broad.mit.edu	37	4	59958	59958	+	Silent	SNP	G	G	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr4:59958G>A	ENST00000509152.2	+	3	323	c.138G>A	c.(136-138)gtG>gtA	p.V46V	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Silent_p.V46V					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		CAGGTTTTGTGATCTCTAACC	0.388000													9	92					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr4:71346978T>C	ENST00000413702.1	+	4	805	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.					extracellular region	protein binding	p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522000													8	192					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189860427	189860428	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr2:189860427_189860428delGG	ENST00000304636.3	+	22	1689_1690	c.1519_1520delGG	c.(1519-1521)afs	p.G507fs	COL3A1_ENST00000317840.5_Frame_Shift_Del_p.G507fs	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	507	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGGTCCTGCTGGAGAGCGTGGT	0.480													2	4	---	---	---	---					
EIF4G1	1981	broad.mit.edu	37	3	184046528	184046529	+	Frame_Shift_Ins	INS	-	-	T	rs144059151	byFrequency	TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr3:184046528_184046529insT	ENST00000342981.4	+	26	4480_4481	c.4066_4067insT	c.(4066-4068)gggfs	p.G1356fs	EIF4G1_ENST00000427845.1_Frame_Shift_Ins_p.G1269fs|EIF4G1_ENST00000319274.6_Frame_Shift_Ins_p.G1355fs|EIF4G1_ENST00000434061.2_Frame_Shift_Ins_p.G1160fs|EIF4G1_ENST00000411531.1_Frame_Shift_Ins_p.G1316fs|EIF4G1_ENST00000382330.3_Frame_Shift_Ins_p.G1362fs|EIF4G1_ENST00000352767.3_Frame_Shift_Ins_p.G1362fs|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Frame_Shift_Ins_p.G1355fs|EIF4G1_ENST00000414031.1_Frame_Shift_Ins_p.G1315fs|EIF4G1_ENST00000350481.5_Frame_Shift_Ins_p.G1191fs|EIF4G1_ENST00000392537.2_Frame_Shift_Ins_p.G1268fs|EIF4G1_ENST00000441154.1_Frame_Shift_Ins_p.G1192fs|EIF4G1_ENST00000424196.1_Frame_Shift_Ins_p.G1362fs|EIF4G1_ENST00000435046.2_Frame_Shift_Ins_p.G1159fs	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1355	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGGGGTGCCCATGGGGGAGCTG	0.545													26	234	---	---	---	---					
PMS2CL	441194	broad.mit.edu	37	7	6775132	6775133	+	RNA	INS	-	-	T	rs72390141		TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr7:6775132_6775133insT	ENST00000486256.1	+	0	833					NR_002217.1																						GGTCATGTAAGTTTTTTTTTTT	0.401													2	4	---	---	---	---					
CHD4	1108	broad.mit.edu	37	12	6707098	6707098	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr12:6707098delT	ENST00000309577.6	-	12	2017	c.1854delA	c.(1852-1854)aafs	p.K618fs	CHD4_ENST00000544484.1_Frame_Shift_Del_p.K615fs|CHD4_ENST00000357008.2_Frame_Shift_Del_p.K618fs|CHD4_ENST00000544040.1_Frame_Shift_Del_p.K611fs			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	618					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|zinc ion binding			central_nervous_system(2)	2						TCCACTCGGGTTTTATCCCAT	0.517													28	165	---	---	---	---					
C14orf177	283598	broad.mit.edu	37	14	99182679	99182680	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr14:99182679_99182680delAG	ENST00000325812.2	+	3	570_571	c.151_152delAG	c.(151-153)afs	p.R51fs		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	51										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				GCAGAGCCTAAGACATAACAAG	0.490													10	33	---	---	---	---					
HMOX2	3163	broad.mit.edu	37	16	4557930	4557932	+	In_Frame_Del	DEL	ATA	ATA	-			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr16:4557930_4557932delATA	ENST00000570646.1	+	4	1026_1028	c.421_423delATA	c.(421-423)del	p.I141del	HMOX2_ENST00000458134.3_In_Frame_Del_p.I141del|HMOX2_ENST00000414777.1_In_Frame_Del_p.I141del|HMOX2_ENST00000406590.2_In_Frame_Del_p.I141del|HMOX2_ENST00000219700.6_In_Frame_Del_p.I141del|HMOX2_ENST00000575120.1_In_Frame_Del_p.I112del|HMOX2_ENST00000398595.3_In_Frame_Del_p.I141del	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	141					cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	GATCCACTACATAGGGCAGAACG	0.606													11	33	---	---	---	---					
PIGN	23556	broad.mit.edu	37	18	59825034	59825035	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr18:59825034_59825035insA	ENST00000357637.5	-	5	643_644	c.228_229insT	c.(226-231)attaatfs	p.N77fs	PIGN_ENST00000400334.3_Frame_Shift_Ins_p.N77fs	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	77					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups	p.I77V(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				TCATGCATTATGATATTCCTAA	0.371													4	6	---	---	---	---					
ZNF563	147837	broad.mit.edu	37	19	12430288	12430298	+	Frame_Shift_Del	DEL	AGGTTTCTACG	AGGTTTCTACG	-			TCGA-CV-A45U-01A-12D-A24D-08	TCGA-CV-A45U-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2d4d10-cb8f-4a22-b1f2-a30ad5d0aaed	ddf102ab-0ac3-4895-abdd-c521afd0f8f1	g.chr19:12430288_12430298delAGGTTTCTACG	ENST00000293725.5	-	4	746_756	c.541_551delCGTAGAAACCT	c.(541-552)tfs	p.RRNL181fs	ZNF563_ENST00000595977.1_Frame_Shift_Del_p.RRNL181fs	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GTGTCTTCGAAGGTTTCTACGAGAACTGAAG	0.422													20	78	---	---	---	---