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
C2CD3	26005	broad.mit.edu	37	11	73829385	73829385	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr11:73829385C>T	ENST00000334126.7	-	9	1634	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N	C2CD3_ENST00000313663.7_Missense_Mutation_p.D470N			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	470						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGGACGATATCATCCTCTTCA	0.428000													13	57					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157522425	157522425	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr6:157522425G>A	ENST00000346085.5	+	18	4698	c.4697G>A	c.(4696-4698)cGc>cAc	p.R1566H	ARID1B_ENST00000275248.4_Missense_Mutation_p.R1548H|ARID1B_ENST00000350026.5_Missense_Mutation_p.R1553H|ARID1B_ENST00000367148.1_Missense_Mutation_p.R1606H	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1553	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.R1548H(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTGGAGAACCGCATGTCTCCA	0.622000													3	69					0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9922163	9922163	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr4:9922163G>A	ENST00000506583.1	-	9	978	c.761C>T	c.(760-762)tCc>tTc	p.S254F	SLC2A9_ENST00000309065.3_Missense_Mutation_p.S254F|SLC2A9_ENST00000264784.3_Missense_Mutation_p.S283F			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	283					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						TACCTCTTGGGAAACGTCTGC	0.577000													9	25					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353000													4	297					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29533361	29533361	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr17:29533361G>A	ENST00000358273.4	+	12	1747	c.1364G>A	c.(1363-1365)gGa>gAa	p.G455E	NF1_ENST00000356175.3_Missense_Mutation_p.G455E|NF1_ENST00000431387.4_Missense_Mutation_p.G455E	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	455					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.?(6)	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)		CAAGGTTGTGGAGCACACCCA	0.403000			"""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)			30	94					0	0	1	0	0
TRAV36DV7	28646	broad.mit.edu	37	14	22695130	22695130	+	RNA	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr14:22695130C>T	ENST00000390463.3	+	0	337																											ACTCGGCCATCTACCTCTGTG	0.483000													5	10					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27448053	27448053	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr2:27448053G>A	ENST00000264705.4	+	11	1724	c.1562G>A	c.(1561-1563)aGa>aAa	p.R521K	CAD_ENST00000403525.1_Missense_Mutation_p.R521K	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	521	ATP-grasp 1.|CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TTTGCTGCCAGAATGGCAGAG	0.587000													3	13					0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205238773	205238773	+	Silent	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr1:205238773C>T	ENST00000358024.3	+	3	1832	c.1443C>T	c.(1441-1443)agC>agT	p.S481S	TMCC2_ENST00000330675.7_Silent_p.S256S|TMCC2_ENST00000329800.7_Silent_p.S241S|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Silent_p.S403S	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	481						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGTGCTCCAGCGCCAGCGCCA	0.672000													15	29					0	0	1	0	0
ZNF117	51351	broad.mit.edu	37	7	64439662	64439662	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr7:64439662G>A	ENST00000282869.6	-	4	1571	c.287C>T	c.(286-288)tCa>tTa	p.S96L		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GTGTCTATTTGAATTTGAAAT	0.274000													3	45					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38908899	38908899	+	Silent	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr3:38908899G>A	ENST00000302328.3	-	23	4062	c.3864C>T	c.(3862-3864)ttC>ttT	p.F1288F	SCN11A_ENST00000456224.3_Silent_p.F1250F|SCN11A_ENST00000444237.2_Silent_p.F1288F|SCN11A_ENST00000450244.1_Silent_p.F1288F	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1288					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TAAAGACTACGAAGTAAATGT	0.338000													16	49					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9444670	9444670	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr11:9444670C>G	ENST00000379719.3	+	9	1166	c.1024C>G	c.(1024-1026)Ctg>Gtg	p.L342V		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	342					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CTGGAAGAATCTGAAGCCCCA	0.303000													19	83					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577506	7577506	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr17:7577506C>A	ENST00000420246.2	-	7	907	c.775G>T	c.(775-777)Gac>Tac	p.D259Y	TP53_ENST00000359597.4_Missense_Mutation_p.D259Y|TP53_ENST00000269305.4_Missense_Mutation_p.D259Y|TP53_ENST00000413465.2_Missense_Mutation_p.D259Y|TP53_ENST00000445888.2_Missense_Mutation_p.D259Y|TP53_ENST00000455263.2_Missense_Mutation_p.D259Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	259	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> S (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (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.D259Y(21)|p.0?(8)|p.D259N(6)|p.D259fs*5(3)|p.D259fs*86(3)|p.D259F(3)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(1)|p.D259H(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)		GACCTGGAGTCTTCCAGTGTG	0.582000		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)			7	19					2.7689e-08	3.00113e-08	1	1	0
PRICKLE2	166336	broad.mit.edu	37	3	64184472	64184472	+	Silent	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr3:64184472C>T	ENST00000295902.6	-	2	717	c.132G>A	c.(130-132)ctG>ctA	p.L44L	PRICKLE2-AS3_ENST00000473434.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.L100L	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	44	PET.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GTTCAGGCTTCAGACCCGGCG	0.507000													14	40					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9517620	9517620	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr3:9517620C>T	ENST00000402466.1	+	24	4648	c.3880C>T	c.(3880-3882)Ccc>Tcc	p.P1294S	SETD5_ENST00000406341.1_Missense_Mutation_p.P1392S|SETD5_ENST00000407969.1_Missense_Mutation_p.P1411S|SETD5_ENST00000302463.6_Missense_Mutation_p.P1294S|SETD5_ENST00000402198.1_Missense_Mutation_p.P1392S			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1392	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TATCAGTCTGCCCAGTGCTGG	0.542000													3	32					0	0	1	0	0
MRC1	4360	broad.mit.edu	37	10	18112173	18112173	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr10:18112173C>G	ENST00000239761.3	+	2	294	c.191C>G	c.(190-192)tCt>tGt	p.S64C		NM_002438.2	NP_002429.1	P22897	MRC1_HUMAN	mannose receptor, C type 1	64	Ricin B-type lectin.				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity			breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	6						GTGTCCGAATCTCAGATTATG	0.478000													5	93					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7618494	7618494	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr10:7618494C>G	ENST00000256861.6	-	10	1978	c.1900G>C	c.(1900-1902)Gag>Cag	p.E634Q	ITIH5_ENST00000397146.2_Missense_Mutation_p.E634Q|ITIH5_ENST00000446830.2_Missense_Mutation_p.E416Q|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Missense_Mutation_p.E420Q|ITIH5_ENST00000397145.2_Missense_Mutation_p.E634Q	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	634					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGGGCCTCCTCCAGGCCATCC	0.697000													9	15					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56482437	56482437	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr12:56482437A>G	ENST00000267101.3	+	8	1425	c.985A>G	c.(985-987)Aaa>Gaa	p.K329E	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.K270E	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	329					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.K329E(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ACTATGTCCCAAAGGTGGGTA	0.512000													29	90					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142266713	142266713	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr3:142266713C>T	ENST00000350721.4	-	16	3332	c.3211G>A	c.(3211-3213)Gat>Aat	p.D1071N	ATR_ENST00000383101.3_Missense_Mutation_p.D1007N	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1071					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCTTGGAAATCTTGTCTCAAC	0.338000								Other conserved DNA damage response genes					11	43					0	0	1	0	0
TAS1R3	83756	broad.mit.edu	37	1	1267889	1267889	+	Missense_Mutation	SNP	G	G	C	rs143806324		TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr1:1267889G>C	ENST00000339381.5	+	3	1010	c.978G>C	c.(976-978)caG>caC	p.Q326H		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	326					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	GCTTCCTCCAGAGGGGTGCCC	0.697000													6	18					0	0	1	0	0
ATF6B	1388	broad.mit.edu	37	6	32088620	32088620	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr6:32088620C>T	ENST00000375201.4	-	8	796	c.751G>A	c.(751-753)Gtc>Atc	p.V251I	ATF6B_ENST00000375203.3_Missense_Mutation_p.V254I			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	254					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						GGCATTGGGACAGTGGTTAGC	0.587000													20	85					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43234029	43234029	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr19:43234029G>C	ENST00000327495.5	-	4	1073	c.889C>G	c.(889-891)Cta>Gta	p.L297V	PSG3_ENST00000595140.1_Missense_Mutation_p.L297V	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	297	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				ACACTGGGTAGAATGAGGATC	0.493000													17	128					0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20420393	20420393	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr7:20420393C>A	ENST00000222573.4	+	5	1424	c.740C>A	c.(739-741)tCt>tAt	p.S247Y	ITGB8_ENST00000537992.1_Missense_Mutation_p.S112Y	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8		VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CAGAAGATCTCTGGAAACATA	0.443000													21	64					3.28513e-13	3.65498e-13	1	1	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			10	28					0	0	1	0	0
NT5C	30833	broad.mit.edu	37	17	73126727	73126727	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr17:73126727C>G	ENST00000245552.2	-	5	549	c.462G>C	c.(460-462)gaG>gaC	p.E154D	NT5C_ENST00000578337.1_3'UTR|NT5C_ENST00000582160.1_Missense_Mutation_p.E68D|NT5C_ENST00000582170.1_Missense_Mutation_p.D153H	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	5', 3'-nucleotidase, cytosolic	154					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine deoxyribonucleotide catabolic process|pyrimidine nucleoside catabolic process	cytosol|nucleus	5'-nucleotidase activity|metal ion binding|pyrimidine nucleotide binding					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			AGCTTGGGGTCTCCTCCTGGC	0.602000											OREG0024728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	45					0	0	1	0	0
NUP43	348995	broad.mit.edu	37	6	150057650	150057650	+	Silent	SNP	T	T	C			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr6:150057650T>C	ENST00000340413.2	-	6	823	c.747A>G	c.(745-747)caA>caG	p.Q249Q	NUP43_ENST00000367403.3_3'UTR|NUP43_ENST00000460354.2_Silent_p.Q249Q|NUP43_ENST00000367404.4_Intron	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	249					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		GCATAGTACCTTGTCTAACAT	0.408000													10	28					0	0	1	0	0
CCDC6	8030	broad.mit.edu	37	10	61554234	61554234	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr10:61554234G>C	ENST00000263102.6	-	8	1458	c.1227C>G	c.(1225-1227)atC>atG	p.I409M		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	409						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CACTTACTGTGATACCATGGG	0.512000			T	RET	NSCLC								7	38					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40916379	40916379	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr15:40916379C>T	ENST00000346991.5	+	11	4385	c.3995C>T	c.(3994-3996)cCa>cTa	p.P1332L	CASC5_ENST00000399668.2_Missense_Mutation_p.P1306L			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1332				P -> A (in Ref. 2; BAC05691).	acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TCCTGTTTACCAAATGTTATT	0.358000													10	62					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70594438	70594438	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr16:70594438T>G	ENST00000302516.5	+	16	2288	c.2077T>G	c.(2077-2079)Tac>Gac	p.Y693D		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	693					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TCGCACTCGGTACCTGGGGTC	0.527000													15	41					0	0	1	0	0
MOAP1	64112	broad.mit.edu	37	14	93650482	93650482	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr14:93650482C>G	ENST00000556883.1	-	2	590	c.106G>C	c.(106-108)Gag>Cag	p.E36Q	MOAP1_ENST00000298894.4_Missense_Mutation_p.E36Q			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	36					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		agagcctcctcgatttctgcc	0.537000													32	88					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_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													3	10					0.115264	0.116653	1	1	0
ANKLE2	23141	broad.mit.edu	37	12	133306557	133306557	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr12:133306557C>T	ENST00000539605.1	-	10	8689	c.2005G>A	c.(2005-2007)Gat>Aat	p.D669N	ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000542282.1_Missense_Mutation_p.D86N|ANKLE2_ENST00000357997.5_Missense_Mutation_p.D731N|ANKLE2_ENST00000542657.1_Missense_Mutation_p.D86N			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	731						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		ACAGTCAAATCCGAGACAGGT	0.493000													14	91					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124165703	124165703	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr3:124165703G>C	ENST00000360013.3	+	21	3644	c.3517G>C	c.(3517-3519)Gaa>Caa	p.E1173Q	KALRN_ENST00000240874.3_Missense_Mutation_p.E1173Q|KALRN_ENST00000460856.1_Missense_Mutation_p.E1164Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1173					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ACTGCTGAAAGAATATGGGGA	0.502000													17	67					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71942646	71942646	+	Silent	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr11:71942646C>T	ENST00000541756.1	+	13	1806	c.876C>T	c.(874-876)atC>atT	p.I292I	INPPL1_ENST00000538751.1_Silent_p.I292I|INPPL1_ENST00000298229.2_Silent_p.I534I			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	534					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGACTGGCATCGCCAACACCC	0.557000													13	34					0	0	1	0	0
RPS5	6193	broad.mit.edu	37	19	58904758	58904758	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr19:58904758C>G	ENST00000596046.1	+	3	1200	c.351C>G	c.(349-351)atC>atG	p.I117M	RPS5_ENST00000598495.1_Missense_Mutation_p.I138M|RPS5_ENST00000598098.1_Missense_Mutation_p.I47M|RPS5_ENST00000196551.3_Missense_Mutation_p.I117M|RPS5_ENST00000601521.1_Missense_Mutation_p.I117M			P46782	RS5_HUMAN	ribosomal protein S5	117					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		ACGCCATCATCAACAGTGGTC	0.597000													13	38					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9450086	9450086	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr11:9450086G>A	ENST00000379719.3	+	13	1477		c.e13-1			NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7						interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TATATTTACAGAAAAAGATCT	0.299000													5	24					0	0	1	0	0
HIST1H3I	8354	broad.mit.edu	37	6	27839802	27839802	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr6:27839802C>T	ENST00000328488.2	-	1	297	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	98					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGGTAGGCCTCGCAAGCCTCC	0.572000													22	67					0	0	1	0	0
DHRS4L2	317749	broad.mit.edu	37	14	24459463	24459463	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr14:24459463G>C	ENST00000335125.6	+	2	327	c.201G>C	c.(199-201)caG>caC	p.Q67H	DHRS4L2_ENST00000545240.1_Missense_Mutation_p.Q67H|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.Q65H|DHRS4L2_ENST00000537912.1_Missense_Mutation_p.Q67H|DHRS4L2_ENST00000558753.1_Missense_Mutation_p.Q67H|DHRS4L2_ENST00000543805.1_5'UTR|DHRS4L2_ENST00000534993.1_5'UTR|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.Q67H	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	39							binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		GGAAGCAGCAGAATGTGGACC	0.672000													11	59					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9450647	9450647	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr11:9450647G>C	ENST00000379719.3	+	14	1637	c.1495G>C	c.(1495-1497)Gag>Cag	p.E499Q		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	499					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		AACAGCCTTAGAGCTAACAAG	0.383000													11	52					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204449	9204449	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr19:9204449T>A	ENST00000429566.3	+	1	595	c.529T>A	c.(529-531)Tac>Aac	p.Y177N		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GGTGCCTCACTACTTCTGCGA	0.577000													10	65					0	0	1	0	0
ENTPD5	957	broad.mit.edu	37	14	74453579	74453579	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr14:74453579C>G	ENST00000334696.6	-	5	554	c.235G>C	c.(235-237)Gaa>Caa	p.E79Q	ENTPD5_ENST00000557325.1_Missense_Mutation_p.E79Q|ENTPD5_ENST00000556242.1_3'UTR	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	79					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		ACTTCCCCTTCTAGAATTGGA	0.413000													11	39					0	0	1	0	0
RFX5	5993	broad.mit.edu	37	1	151318730	151318730	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr1:151318730C>T	ENST00000290524.4	-	3	245	c.67G>A	c.(67-69)Gag>Aag	p.E23K	RFX5_ENST00000452513.2_Missense_Mutation_p.E23K|RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452671.2_Missense_Mutation_p.E23K|RFX5_ENST00000368870.2_Missense_Mutation_p.E23K	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	23						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCCCCAGCCTCAGCACCACCT	0.567000													22	74					0	0	1	0	0
FAM65B	9750	broad.mit.edu	37	6	24850879	24850879	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr6:24850879C>A	ENST00000259698.4	-	10	919	c.744G>T	c.(742-744)tgG>tgT	p.W248C	FAM65B_ENST00000510784.2_Missense_Mutation_p.W282C|FAM65B_ENST00000538035.1_Missense_Mutation_p.W277C|FAM65B_ENST00000540914.1_Missense_Mutation_p.W248C|FAM65B_ENST00000378023.4_Missense_Mutation_p.W248C	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	248					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						CTTCTCCATCCCAGCTCTGCT	0.483000													12	48					0.010729	0.0111264	1	1	0
SLC6A5	9152	broad.mit.edu	37	11	20676318	20676318	+	Silent	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr11:20676318C>T	ENST00000525748.1	+	16	2571	c.2298C>T	c.(2296-2298)cgC>cgT	p.R766R	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	766					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CTCAACACCGCGGGGAGCGTT	0.542000													15	53					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43439832	43439832	+	RNA	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr19:43439832G>A	ENST00000446844.3	-	0	243				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				ACAAGTAGAAGAACATCCTTC	0.468000													49	152					0	0	1	0	0
HIST1H2BB	3018	broad.mit.edu	37	6	26043546	26043546	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr6:26043546C>T	ENST00000357905.2	-	1	339	c.340G>A	c.(340-342)Gag>Aag	p.E114K		NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	114					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						TTAGTGCCCTCGGACACAGCA	0.527000													6	34					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160035087	160035087	+	Silent	SNP	A	A	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr2:160035087A>G	ENST00000263635.6	+	14	2160	c.1923A>G	c.(1921-1923)ccA>ccG	p.P641P	TANC1_ENST00000454300.1_Silent_p.P535P	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	641						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GTGCGCTGCCATTTGTCAAGC	0.453000													16	80					0	0	1	0	0
STAM2	10254	broad.mit.edu	37	2	153001419	153001419	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr2:153001419T>A	ENST00000263904.4	-	6	849	c.500A>T	c.(499-501)gAt>gTt	p.D167V	STAM2_ENST00000465460.1_Intron	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	167					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TATGTCTTCATCCTCTTTGTT	0.408000													17	53					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62022036	62022036	+	Silent	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr17:62022036C>T	ENST00000578147.1	-	21	3985	c.3909G>A	c.(3907-3909)aaG>aaA	p.K1303K	SCN4A_ENST00000435607.1_Silent_p.K1303K			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1303					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TACTCATCTTCTTCTTCTGCT	0.527000													4	8					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27449410	27449410	+	Silent	SNP	G	G	C			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr2:27449410G>C	ENST00000264705.4	+	14	2211	c.2049G>C	c.(2047-2049)gtG>gtC	p.V683V	CAD_ENST00000403525.1_Silent_p.V620V	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	683	ATP-grasp 1.|CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TCATTGAAGTGAATGCCAGGC	0.498000													8	43					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39064993	39064993	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr2:39064993C>A	ENST00000295373.6	-	13	2648	c.2522G>T	c.(2521-2523)gGa>gTa	p.G841V		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	841	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GGAGTGCTTTCCATCCACAAT	0.398000													17	54					1.67942e-08	1.83209e-08	1	1	0
FRG1B	284802	broad.mit.edu	37	20	29632705	29632705	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr20:29632705G>A	ENST00000278882.3	+	8	900	c.520G>A	c.(520-522)Gag>Aag	p.E174K	FRG1B_ENST00000358464.4_Missense_Mutation_p.E174K																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATTTTTGCATGAGACGCTTCT	0.313000													18	583					0	0	1	0	0
ISG15	9636	broad.mit.edu	37	1	949726	949726	+	Silent	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr1:949726C>T	ENST00000379389.4	+	2	517	c.366C>T	c.(364-366)ttC>ttT	p.F122F		NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN	ISG15 ubiquitin-like modifier	122	Ubiquitin-like 2.				cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway	cytosol|extracellular space	protein binding			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		ACGACCTGTTCTGGCTGACCT	0.662000													18	37					0	0	1	0	0
VAPA	9218	broad.mit.edu	37	18	9954143	9954143	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr18:9954143C>A	ENST00000400000.2	+	6	940	c.685C>A	c.(685-687)Cct>Act	p.P229T	VAPA_ENST00000340541.4_Missense_Mutation_p.P274T	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	229					cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity			breast(1)|lung(2)|prostate(1)	4						CAGTCCTCTTCCTTCACTTCT	0.393000													26	135					1.17739e-12	1.30133e-12	1	1	0
KLHL24	54800	broad.mit.edu	37	3	183390112	183390112	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr3:183390112C>G	ENST00000454652.2	+	8	1828	c.1442C>G	c.(1441-1443)tCt>tGt	p.S481C	KLHL24_ENST00000242810.6_Missense_Mutation_p.S481C|KLHL24_ENST00000476808.1_Missense_Mutation_p.S481C	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24							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)			GAAACCAATTCTTGGCTACTT	0.338000													8	40					0	0	1	0	0
MARS2	92935	broad.mit.edu	37	2	198570427	198570427	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr2:198570427C>G	ENST00000282276.6	+	1	341	c.298C>G	c.(298-300)Cag>Gag	p.Q100E	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	100					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	GCTGAAGATTCAGCAGGCAGC	0.667000													4	18					0	0	1	0	0
FXR2	9513	broad.mit.edu	37	17	7504810	7504810	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr17:7504810G>T	ENST00000250113.7	-	7	911	c.577C>A	c.(577-579)Ctg>Atg	p.L193M		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	193						cytosolic large ribosomal subunit	protein binding|RNA binding	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TCACCCAGCAGAGATGCTCGC	0.493000													33	96					1.60099e-16	1.7931e-16	1	1	0
PAAF1	80227	broad.mit.edu	37	11	73598435	73598435	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr11:73598435G>A	ENST00000536003.1	+	4	219	c.74G>A	c.(73-75)gGa>gAa	p.G25E	PAAF1_ENST00000535604.1_5'UTR|PAAF1_ENST00000541951.1_5'UTR|PAAF1_ENST00000310571.3_Missense_Mutation_p.G42E|PAAF1_ENST00000544552.1_Missense_Mutation_p.G25E|PAAF1_ENST00000376384.5_Missense_Mutation_p.G25E|PAAF1_ENST00000543079.1_3'UTR	NM_001267803.1|NM_001267804.1|NM_001267805.1	NP_001254732.1|NP_001254733.1|NP_001254734.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	42					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					ACTTGTCAAGGAATTGGCCTA	0.348000													9	38					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44938459	44938459	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chrX:44938459C>T	ENST00000377967.4	+	20	3048	c.3007C>T	c.(3007-3009)Cag>Tag	p.Q1003*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q924*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q1010*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q958*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1003					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGTGAGGACACAGTTGTTGCA	0.368000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								20	17					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9444647	9444647	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr11:9444647C>G	ENST00000379719.3	+	9	1143	c.1001C>G	c.(1000-1002)tCt>tGt	p.S334C		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	334					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CAAGGAGTTTCTCATGCTCTC	0.313000													20	83					0	0	1	0	0
RARRES2	5919	broad.mit.edu	37	7	150037207	150037207	+	Silent	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr7:150037207G>A	ENST00000466675.1	-	2	1294	c.261C>T	c.(259-261)tgC>tgT	p.C87C	RARRES2_ENST00000223271.3_Silent_p.C87C|RARRES2_ENST00000482669.1_Silent_p.C87C			Q99969	RARR2_HUMAN	retinoic acid receptor responder (tazarotene induced) 2	87					embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			GCCTGACTTTGCACTCGGGTT	0.577000													89	308					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21721829	21721829	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr12:21721829C>T	ENST00000261195.2	-	5	1047	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	265					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TGTTCAGCTTCTATTGCTGTT	0.448000													25	69					0	0	1	0	0
NEK1	4750	broad.mit.edu	37	4	170523226	170523226	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr4:170523226C>A	ENST00000439128.2	-	3	787	c.147G>T	c.(145-147)agG>agT	p.R49S	NEK1_ENST00000510533.1_Missense_Mutation_p.R49S|NEK1_ENST00000507142.1_Missense_Mutation_p.R49S|NEK1_ENST00000511633.1_Missense_Mutation_p.R49S|NEK1_ENST00000512193.1_Missense_Mutation_p.R49S	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	49	Protein kinase.				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CAACTTCTCTCCTTGATTCTT	0.328000													11	57					3.07112e-06	3.28629e-06	1	1	0
ATP8B4	79895	broad.mit.edu	37	15	50152669	50152669	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr15:50152669G>A	ENST00000284509.6	-	28	3442	c.3301C>T	c.(3301-3303)Cgc>Tgc	p.R1101C	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R1101C	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1101					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGCCACCGGCGGATCTGGAGA	0.498000													5	53					0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154183239	154183239	+	Silent	SNP	C	C	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr5:154183239C>G	ENST00000336314.4	+	13	2166	c.2142C>G	c.(2140-2142)ctC>ctG	p.L714L		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	791							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CACCACAGCTCAAAGACTCAA	0.582000													4	21					0	0	1	0	0
EIF5	1983	broad.mit.edu	37	14	103805628	103805628	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr14:103805628G>C	ENST00000216554.3	+	9	1540	c.864G>C	c.(862-864)aaG>aaC	p.K288N	EIF5_ENST00000558506.1_Missense_Mutation_p.K288N|EIF5_ENST00000392715.2_Missense_Mutation_p.K288N	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	288	W2.				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			TTAATGAGAAGATTAGAGAAC	0.388000													18	73					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48695429	48695429	+	Silent	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr17:48695429C>T	ENST00000352832.5	+	29	5517	c.5145C>T	c.(5143-5145)ctC>ctT	p.L1715L	CACNA1G_ENST00000360761.4_Silent_p.L1726L|CACNA1G_ENST00000510115.1_Silent_p.L1715L|CACNA1G_ENST00000515765.1_Silent_p.L1738L|CACNA1G_ENST00000507896.1_Silent_p.L1738L|CACNA1G_ENST00000505165.1_Silent_p.L1749L|CACNA1G_ENST00000514717.1_Silent_p.L1692L|CACNA1G_ENST00000515411.1_Silent_p.L1731L|CACNA1G_ENST00000503485.1_Silent_p.L1715L|CACNA1G_ENST00000513689.2_Silent_p.L1704L|CACNA1G_ENST00000512389.1_Silent_p.L1738L|CACNA1G_ENST00000429973.2_Silent_p.L1731L|CACNA1G_ENST00000513964.1_Silent_p.L1704L|CACNA1G_ENST00000442258.2_Silent_p.L1708L|CACNA1G_ENST00000515165.1_Silent_p.L1749L|CACNA1G_ENST00000358244.5_Silent_p.L1715L|CACNA1G_ENST00000359106.5_Silent_p.L1749L|CACNA1G_ENST00000507336.1_Silent_p.L1738L|CACNA1G_ENST00000514181.1_Silent_p.L1724L|CACNA1G_ENST00000514079.1_Silent_p.L1756L|CACNA1G_ENST00000510366.1_Silent_p.L1697L|CACNA1G_ENST00000507609.1_Silent_p.L1742L|CACNA1G_ENST00000507510.2_Silent_p.L1749L|CACNA1G_ENST00000354983.4_Silent_p.L1715L|CACNA1G_ENST00000502264.1_Silent_p.L1726L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1749					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGGACTTCTCTTCATGTTGT	0.552000													5	16					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15826519	15826519	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr16:15826519C>T	ENST00000452625.2	-	28	3661	c.3574G>A	c.(3574-3576)Gaa>Aaa	p.E1192K	MYH11_ENST00000396324.3_Missense_Mutation_p.E1192K|MYH11_ENST00000576790.2_Missense_Mutation_p.E1185K|MYH11_ENST00000300036.5_Missense_Mutation_p.E1185K|AF001548.5_ENST00000574212.1_RNA	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1185					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGCGTCTCTTCATCCAGGGCC	0.592000			T	CBFB	AML								10	46					0	0	1	0	0
CLMP	79827	broad.mit.edu	37	11	122953884	122953884	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr11:122953884C>G	ENST00000448775.2	-	5	928	c.588G>C	c.(586-588)caG>caC	p.Q196H	CLMP_ENST00000530371.1_5'UTR	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	196	Ig-like C2-type 2.					integral to membrane|tight junction				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						TGGTAAGATTCTGCAGCAGAA	0.443000													13	47					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135202654	135202654	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr9:135202654G>A	ENST00000372169.2	-	10	4513	c.4331C>T	c.(4330-4332)tCt>tTt	p.S1444F	SETX_ENST00000393220.1_Missense_Mutation_p.S1444F|SETX_ENST00000224140.5_Missense_Mutation_p.S1444F			Q7Z333	SETX_HUMAN	senataxin	1444					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TAACACTACAGAATCACACTG	0.418000													21	65					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38908887	38908887	+	Silent	SNP	G	G	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr3:38908887G>T	ENST00000302328.3	-	23	4074	c.3876C>A	c.(3874-3876)atC>atA	p.I1292I	SCN11A_ENST00000456224.3_Silent_p.I1254I|SCN11A_ENST00000444237.2_Silent_p.I1292I|SCN11A_ENST00000450244.1_Silent_p.I1292I	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1292					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AGCCAAAGATGATAAAGACTA	0.333000													12	63					6.72482e-11	7.38412e-11	1	1	0
TAS1R3	83756	broad.mit.edu	37	1	1266864	1266864	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr1:1266864G>A	ENST00000339381.5	+	1	171	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	47					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	GGGCGAGGCCGAGGAGGCTGG	0.692000													5	9					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2673328	2673328	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr18:2673328G>A	ENST00000320876.6	+	4	811	c.473G>A	c.(472-474)cGt>cAt	p.R158H	SMCHD1_ENST00000261598.8_Missense_Mutation_p.R158H	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	158					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GCTACTTCTCGTAACATTGGG	0.323000													3	18					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46321170	46321170	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr12:46321170G>A	ENST00000465950.1	-	1	2578	c.1369C>T	c.(1369-1371)Caa>Taa	p.Q457*	SCAF11_ENST00000549162.1_Nonsense_Mutation_p.Q580*|SCAF11_ENST00000369367.3_Nonsense_Mutation_p.Q772*|SCAF11_ENST00000419565.2_Nonsense_Mutation_p.Q772*			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	772					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TCAGATGGTTGAGAAACAGTT	0.373000													26	116					0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104117872	104117872	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr1:104117872G>A	ENST00000361355.4	+	8	1522	c.906G>A	c.(904-906)atG>atA	p.M302I	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	302					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GGGGTTTCATGCCTTCTGACA	0.418000													8	344					0	0	1	0	0
OLIG3	167826	broad.mit.edu	37	6	137814971	137814971	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr6:137814971C>T	ENST00000367734.2	-	1	560	c.337G>A	c.(337-339)Gcg>Acg	p.A113T		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	113	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GGCCCATGCGCGTAGGGCATG	0.602000													8	39					0	0	1	0	0
FAM91A1	157769	broad.mit.edu	37	8	124796788	124796788	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr8:124796788C>G	ENST00000334705.7	+	9	1028	c.782C>G	c.(781-783)tCa>tGa	p.S261*	FAM91A1_ENST00000521166.1_Nonsense_Mutation_p.S261*	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	261										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			ATATTTGTTTCAATAGATGAG	0.308000													9	33					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48699087	48699087	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr17:48699087C>A	ENST00000354983.4	+	33	6262	c.5890C>A	c.(5890-5892)Cta>Ata	p.L1964I	CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000359106.5_Missense_Mutation_p.L1998I|CACNA1G_ENST00000507336.1_Missense_Mutation_p.L1987I|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000502264.1_Missense_Mutation_p.L1927I	NM_198396.2	NP_938406.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1998					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTCCTGCTCTCTAGCTCTGAC	0.522000													10	26					4.68919e-08	5.0499e-08	1	1	0
POLM	27434	broad.mit.edu	37	7	44120443	44120443	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr7:44120443C>T	ENST00000242248.5	-	2	362	c.261G>A	c.(259-261)atG>atA	p.M87I	POLM_ENST00000335195.6_Missense_Mutation_p.M87I|POLM_ENST00000395831.3_Missense_Mutation_p.M87I	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	87	BRCT.				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						GAGCAGCTGCCATCCTGCGCT	0.632000								DNA polymerases (catalytic subunits)					10	36					0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100340261	100340261	+	RNA	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr15:100340261G>A	ENST00000341853.1	-	0	665					NR_003260.1																						CGCGAGTCTCGTCGCGCCGCT	0.622000													4	19					0	0	1	0	0
ALKBH6	84964	broad.mit.edu	37	19	36501890	36501890	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr19:36501890C>A	ENST00000486389.1	-	4	921	c.173G>T	c.(172-174)cGc>cTc	p.R58L	ALKBH6_ENST00000252984.7_Missense_Mutation_p.R81L|ALKBH6_ENST00000495116.2_Intron|ALKBH6_ENST00000378875.3_Missense_Mutation_p.R109L|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000485128.1_Missense_Mutation_p.R81L			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)	81						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTCCACGTAGCGCTGGAGCCA	0.602000													5	18					1	1	1	1	0
SEMA6D	80031	broad.mit.edu	37	15	48053560	48053560	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr15:48053560C>G	ENST00000316364.5	+	6	818	c.379C>G	c.(379-381)Cca>Gca	p.P127A	SEMA6D_ENST00000389432.2_Missense_Mutation_p.P127A|SEMA6D_ENST00000536845.2_Missense_Mutation_p.P127A|SEMA6D_ENST00000355997.3_Missense_Mutation_p.P127A|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P127A|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P127A|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P127A|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P127A|SEMA6D_ENST00000389425.3_Missense_Mutation_p.P127A|SEMA6D_ENST00000558816.1_Missense_Mutation_p.P127A|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P127A|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P127A	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	127	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AGTATTTGTTCCAAGAAACGA	0.348000													11	49					0	0	1	0	0
PGM3	5238	broad.mit.edu	37	6	83898500	83898500	+	Silent	SNP	T	T	C			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr6:83898500T>C	ENST00000513973.1	-	3	338	c.222A>G	c.(220-222)aaA>aaG	p.K74K	PGM3_ENST00000283977.4_5'UTR|PGM3_ENST00000506587.1_Silent_p.K102K|PGM3_ENST00000512866.1_Silent_p.K74K	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN	phosphoglucomutase 3	74					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		GATCAACCAATTTTACACCAT	0.413000													5	32					0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159778006	159778006	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr1:159778006G>C	ENST00000321935.6	+	4	198	c.112G>C	c.(112-114)Gaa>Caa	p.E38Q	FCRL6_ENST00000368106.3_Missense_Mutation_p.E31Q|FCRL6_ENST00000339348.5_Missense_Mutation_p.E31Q|FCRL6_ENST00000392235.3_Missense_Mutation_p.E31Q	NM_001284217.1	NP_001271146.1	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	31	Ig-like C2-type 1.					integral to membrane		p.E31Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					CCCTGTGTTTGAAGGAGATGC	0.517000													22	61					0	0	1	0	0
NAP1L1	4673	broad.mit.edu	37	12	76462749	76462749	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr12:76462749C>G	ENST00000261182.8	-	3	529	c.43G>C	c.(43-45)Gat>Cat	p.D15H	NAP1L1_ENST00000552342.1_Missense_Mutation_p.D15H|NAP1L1_ENST00000542344.1_Intron|NAP1L1_ENST00000544816.1_Intron|NAP1L1_ENST00000547773.1_Intron|NAP1L1_ENST00000535020.2_Missense_Mutation_p.D15H|NAP1L1_ENST00000549596.1_Missense_Mutation_p.D15H|NAP1L1_ENST00000431879.3_5'UTR|NAP1L1_ENST00000548044.1_5'UTR|NAP1L1_ENST00000393263.3_Missense_Mutation_p.D15H	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	15	Asp/Glu-rich (acidic).				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				TCATCCAAATCTTGATCAAGT	0.333000													25	186					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35980097	35980097	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr6:35980097C>G	ENST00000490799.1	-	3	594	c.241G>C	c.(241-243)Gaa>Caa	p.E81Q	SLC26A8_ENST00000355574.2_Missense_Mutation_p.E81Q|SLC26A8_ENST00000394602.2_Missense_Mutation_p.E81Q	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	81					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CACATCCATTCTAGGAAGGGA	0.448000													17	83					0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103032095	103032095	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr7:103032095G>A	ENST00000306312.3	-	11	1468	c.1207C>T	c.(1207-1209)Cag>Tag	p.Q403*	SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393730.1_Nonsense_Mutation_p.Q403*|SLC26A5_ENST00000393723.1_Nonsense_Mutation_p.Q403*|SLC26A5_ENST00000432958.2_Nonsense_Mutation_p.Q403*|SLC26A5_ENST00000393729.1_Nonsense_Mutation_p.Q366*|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Nonsense_Mutation_p.Q403*|SLC26A5_ENST00000393727.1_Nonsense_Mutation_p.Q403*|SLC26A5_ENST00000393735.2_Nonsense_Mutation_p.Q403*	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	403					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GTTCCCTCCTGAACAAGGCTT	0.438000													8	12					0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111061118	111061118	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr1:111061118C>G	ENST00000369771.2	-	1	679	c.292G>C	c.(292-294)Gag>Cag	p.E98Q		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	98						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		AGCTGGGTCTCAAATCTCAGC	0.512000													18	46					0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109715149	109715149	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr1:109715149A>G	ENST00000369939.3	+	5	838	c.655A>G	c.(655-657)Agg>Ggg	p.R219G	KIAA1324_ENST00000529753.1_Missense_Mutation_p.R219G	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	219					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		AGATGACTCCAGGTGGATGAA	0.498000													3	31					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70599121	70599121	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr16:70599121C>T	ENST00000302516.5	+	19	2828	c.2617C>T	c.(2617-2619)Caa>Taa	p.Q873*		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	873					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GAATCCCATTCAAGGGAACAC	0.537000													18	35					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49168488	49168488	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr11:49168488G>C	ENST00000340334.7	-	20	2396	c.2028C>G	c.(2026-2028)atC>atG	p.I676M	FOLH1_ENST00000256999.2_Missense_Mutation_p.I691M|FOLH1_ENST00000356696.3_Missense_Mutation_p.I660M|FOLH1_ENST00000533034.1_Missense_Mutation_p.I645M|FOLH1_ENST00000343844.4_Missense_Mutation_p.I383M	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	691					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TTGGAGCATAGATGACATGCC	0.423000													23	79					0	0	1	0	0
RELA	5970	broad.mit.edu	37	11	65426222	65426222	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr11:65426222C>G	ENST00000525693.1	-	7	693	c.631G>C	c.(631-633)Gag>Cag	p.E211Q	RELA_ENST00000406246.3_Missense_Mutation_p.E211Q|RELA_ENST00000308639.9_Missense_Mutation_p.E208Q			Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	211	RHD.				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						AGGAAGATCTCATCCCCACCG	0.567000													18	62					0	0	1	0	0
TAS1R3	83756	broad.mit.edu	37	1	1268048	1268048	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr1:1268048G>T	ENST00000339381.5	+	3	1169	c.1137G>T	c.(1135-1137)caG>caT	p.Q379H		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	379					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	TCACGCTGCAGAACGTGAGCG	0.637000													6	20					0.0215528	0.0220784	1	1	0
GPR125	166647	broad.mit.edu	37	4	22390725	22390725	+	Silent	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr4:22390725C>T	ENST00000334304.5	-	18	2978	c.2709G>A	c.(2707-2709)cgG>cgA	p.R903R	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	903					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.R903R(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GTGCGTTTGGCCGACTGCCGT	0.418000													4	178					0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98351786	98351786	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr2:98351786G>A	ENST00000264972.5	+	10	1371	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.E260K|ZAP70_ENST00000451498.2_Missense_Mutation_p.E79K	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	386	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GATGATGCGCGAGGCGCAGAT	0.647000													4	87					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53757881	53757881	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr3:53757881C>T	ENST00000288139.4	+	15	2133	c.2015C>T	c.(2014-2016)tCg>tTg	p.S672L	CACNA1D_ENST00000422281.2_Missense_Mutation_p.S652L|CACNA1D_ENST00000350061.5_Missense_Mutation_p.S652L	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCCATCGCTTCGCTGTTGCTT	0.453000													22	72					0	0	1	0	0
CDKN1B	1027	broad.mit.edu	37	12	12870798	12870798	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr12:12870798G>T	ENST00000228872.4	+	1	741	c.25G>T	c.(25-27)Ggg>Tgg	p.G9W	CDKN1B_ENST00000396340.1_Missense_Mutation_p.G9W|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	9					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		AGTGTCTAACGGGAGCCCTAG	0.597000													22	49					1.36565e-18	1.53979e-18	1	1	0
SMG1	23049	broad.mit.edu	37	16	18877967	18877967	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr16:18877967G>C	ENST00000446231.2	-	23	3738	c.3326C>G	c.(3325-3327)tCa>tGa	p.S1109*	SMG1_ENST00000389467.3_Nonsense_Mutation_p.S1109*			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1109	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTGAGCCACTGAGTTAATCCA	0.403000													11	57					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151851516	151851516	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr7:151851516C>T	ENST00000355193.2	-	48	12364	c.12146G>A	c.(12145-12147)tGt>tAt	p.C4049Y	KMT2C_ENST00000262189.6_Missense_Mutation_p.C3992Y|KMT2C_ENST00000485241.1_5'UTR					lysine (K)-specific methyltransferase 2C																		TCGATCACCACAGTGATCCTG	0.473000													12	43					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1273632	1273632	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr11:1273632C>T	ENST00000447027.1	+	32	14990	c.14932C>T	c.(14932-14934)Cag>Tag	p.Q4978*	MUC5B_ENST00000529681.1_Nonsense_Mutation_p.Q4975*			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4975					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)		AGTGTGCAATCAGCACTGTGA	0.597000													17	49					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141768492	141768492	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr7:141768492G>A	ENST00000475668.2	+	43	5104	c.5050G>A	c.(5050-5052)Gat>Aat	p.D1684N	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1684	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCGTTGGTACGATTACTACAC	0.428000													9	26					0	0	1	0	0
DHPS	1725	broad.mit.edu	37	19	12792437	12792437	+	Silent	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr19:12792437G>A	ENST00000210060.7	-	1	279	c.144C>T	c.(142-144)gcC>gcT	p.A48A	DHPS_ENST00000351660.5_Silent_p.A48A	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	48					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8					Sulfadoxine(DB01299)	TGGTGCCGAAGGCCTCCAGCA	0.637000													7	24					0	0	1	0	0
ADD3	120	broad.mit.edu	37	10	111878395	111878395	+	Silent	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr10:111878395G>A	ENST00000277900.8	+	6	983	c.618G>A	c.(616-618)ttG>ttA	p.L206L	ADD3_ENST00000360162.3_Silent_p.L206L|ADD3_ENST00000356080.4_Silent_p.L206L	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	206						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GTACCAATTTGAAAATTGACC	0.393000													16	44					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155734816	155734816	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr1:155734816G>A	ENST00000437809.1	-	21	4570	c.4448C>T	c.(4447-4449)tCt>tTt	p.S1483F	GON4L_ENST00000271883.5_Missense_Mutation_p.S1483F|GON4L_ENST00000361040.5_Missense_Mutation_p.S1483F|GON4L_ENST00000368331.1_Missense_Mutation_p.S1483F|GON4L_ENST00000471341.1_5'UTR	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1483	Glu-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGAAAGCACAGATTCCTCAGA	0.443000													16	38					0	0	1	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11862222	11862222	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr16:11862222C>T	ENST00000396516.2	-	11	1506	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.E437K			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	437						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TGGGTTCCTTCGAGGGGATGT	0.413000													39	103					0	0	1	0	0
FXR2	9513	broad.mit.edu	37	17	7507215	7507215	+	Silent	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr17:7507215G>A	ENST00000250113.7	-	5	643	c.309C>T	c.(307-309)gtC>gtT	p.V103V		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	103						cytosolic large ribosomal subunit	protein binding|RNA binding	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CATATTCAATGACATAGAACT	0.433000													6	15					0	0	1	0	0
TAS1R3	83756	broad.mit.edu	37	1	1268324	1268324	+	Silent	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr1:1268324G>A	ENST00000339381.5	+	4	1331	c.1299G>A	c.(1297-1299)ctG>ctA	p.L433L		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	433					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	TGTACAACCTGACCTTCCACG	0.682000													3	19					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116599837	116599837	+	Silent	SNP	C	C	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr2:116599837C>G	ENST00000410059.1	+	26	2787	c.2307C>G	c.(2305-2307)ctC>ctG	p.L769L	DPP10_ENST00000409163.1_Silent_p.L719L|DPP10_ENST00000310323.8_Silent_p.L762L|DPP10_ENST00000393147.2_Silent_p.L773L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	769					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGTATCATCTCTACAGCACAA	0.363000													3	59					0	0	1	0	0
GSTCD	79807	broad.mit.edu	37	4	106640292	106640292	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr4:106640292C>T	ENST00000515279.1	+	3	722	c.502C>T	c.(502-504)Cag>Tag	p.Q168*	GSTCD_ENST00000507281.1_Nonsense_Mutation_p.Q81*|GSTCD_ENST00000394728.3_Nonsense_Mutation_p.Q168*|GSTCD_ENST00000360505.5_Nonsense_Mutation_p.Q168*|GSTCD_ENST00000394730.3_Nonsense_Mutation_p.Q81*|GSTCD_ENST00000515255.1_Intron			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	168	GST C-terminal.					cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		ATCTTCTGACCAGCCCCCAAC	0.413000													17	59					0	0	1	0	0
SLC25A42	284439	broad.mit.edu	37	19	19218830	19218830	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr19:19218830G>C	ENST00000318596.7	+	7	776	c.625G>C	c.(625-627)Gag>Cag	p.E209Q		NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	209					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			CTTCACCTATGAGACGCTCAA	0.577000													4	35					0	0	1	0	0
TAS1R3	83756	broad.mit.edu	37	1	1267893	1267893	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr1:1267893G>A	ENST00000339381.5	+	3	1014	c.982G>A	c.(982-984)Ggt>Agt	p.G328S		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	328					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	CCTCCAGAGGGGTGCCCAGCT	0.687000													7	20					0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56934487	56934487	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr19:56934487C>G	ENST00000333201.9	+	5	670	c.460C>G	c.(460-462)Caa>Gaa	p.Q154E	ZNF583_ENST00000291598.7_Missense_Mutation_p.Q154E	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TCCAGAAGTTCAAAATAAAGA	0.358000													23	68					0	0	1	0	0
PDCL	5082	broad.mit.edu	37	9	125588973	125588973	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr9:125588973G>A	ENST00000259467.4	-	2	259	c.94C>T	c.(94-96)Cga>Tga	p.R32*		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	32					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						CATCTGCCTCGGTCCTTGTCC	0.552000													15	43					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117243593	117243593	+	Missense_Mutation	SNP	C	C	G	rs61738523		TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr7:117243593C>G	ENST00000003084.6	+	17	2797	c.2665C>G	c.(2665-2667)Ctt>Gtt	p.L889V	CFTR_ENST00000454343.1_Missense_Mutation_p.L828V	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	889	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CAGCACTCCTCTTCAAGACAA	0.353000									Cystic Fibrosis				13	42					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	68961797	68961797	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr16:68961797A>T	ENST00000261778.1	+	13	2466	c.2454A>T	c.(2452-2454)caA>caT	p.Q818H	RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		TCATTCCTCAAGGAGTCAATG	0.488000													10	15					0	0	1	0	0
LEO1	123169	broad.mit.edu	37	15	52258021	52258021	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr15:52258021C>G	ENST00000299601.5	-	2	799	c.739G>C	c.(739-741)Gat>Cat	p.D247H	LEO1_ENST00000315141.5_Missense_Mutation_p.D247H	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	247	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		CTTTCATCATCAGAATTTTGC	0.398000													43	166					0	0	1	0	0
GSTCD	79807	broad.mit.edu	37	4	106640284	106640284	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr4:106640284C>G	ENST00000515279.1	+	3	714	c.494C>G	c.(493-495)tCt>tGt	p.S165C	GSTCD_ENST00000507281.1_Missense_Mutation_p.S78C|GSTCD_ENST00000394728.3_Missense_Mutation_p.S165C|GSTCD_ENST00000360505.5_Missense_Mutation_p.S165C|GSTCD_ENST00000394730.3_Missense_Mutation_p.S78C|GSTCD_ENST00000515255.1_Intron			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	165	GST C-terminal.					cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		CTCAGAGAATCTTCTGACCAG	0.408000													18	60					0	0	1	0	0
UGT1A3	54659	broad.mit.edu	37	2	234638607	234638607	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr2:234638607A>G	ENST00000482026.1	+	1	854	c.835A>G	c.(835-837)Atc>Gtc	p.I279V	UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.I279V|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000608381.1_Intron																breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CATTGGGGGCATCAACTGTGC	0.453000													37	78					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9317892	9317892	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr12:9317892C>A	ENST00000261336.2	-	19	2358	c.2330G>T	c.(2329-2331)tGc>tTc	p.C777F	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Missense_Mutation_p.C646F	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTCGGACAGGCAGAAGGCCCC	0.552000													3	50					0.115264	0.116653	1	1	0
MIR3654	100500804	broad.mit.edu	37	11	62358941	62358941	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr11:62358941G>A	ENST00000496634.2	-	1	62	c.17C>T	c.(16-18)tCg>tTg	p.S6L	TUT1_ENST00000476907.1_Missense_Mutation_p.S6L|TUT1_ENST00000308436.7_Missense_Mutation_p.S44L																NS(1)	1						TTCGACATCCGAATCCACCGC	0.622000													11	32					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46321503	46321503	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr12:46321503G>C	ENST00000465950.1	-	1	2245	c.1036C>G	c.(1036-1038)Caa>Gaa	p.Q346E	SCAF11_ENST00000549162.1_Missense_Mutation_p.Q469E|SCAF11_ENST00000369367.3_Missense_Mutation_p.Q661E|SCAF11_ENST00000419565.2_Missense_Mutation_p.Q661E			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	661					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TCAGAGTCTTGAATATTATTG	0.328000													16	74					0	0	1	0	0
C17orf103	256302	broad.mit.edu	37	17	21147512	21147512	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr17:21147512G>A	ENST00000468196.1	-	2	276	c.131C>T	c.(130-132)tCt>tTt	p.S44F	C17orf103_ENST00000399011.2_Silent_p.L43L			Q8N6N6	GTL3B_HUMAN	chromosome 17 open reading frame 103	0										endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						CGTACTCATAGAGCAGGACGG	0.632000													4	12					0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104117870	104117870	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr1:104117870A>G	ENST00000361355.4	+	8	1520	c.904A>G	c.(904-906)Atg>Gtg	p.M302V	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	302					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTGGGGTTTCATGCCTTCTGA	0.418000													8	348					0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180158779	180158779	+	Silent	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr1:180158779C>T	ENST00000367602.3	+	9	1184	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F	QSOX1_ENST00000367600.5_Silent_p.F370F			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	370					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity	p.F370L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCTACAGTTTCTTTAAAACTG	0.478000													21	46					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237777452	237777452	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr1:237777452C>T	ENST00000366574.2	+	37	5341	c.5024C>T	c.(5023-5025)gCc>gTc	p.A1675V	RYR2_ENST00000360064.6_Missense_Mutation_p.A1673V|RYR2_ENST00000542537.1_Missense_Mutation_p.A1659V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1675	4 X approximate repeats.				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)			GTGGCCCATGCCCTGTGCAGC	0.527000													7	19					0	0	1	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70016564	70016564	+	RNA	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr16:70016564C>T	ENST00000531894.1	-	0	2370				RP11-419C5.2_ENST00000525562.1_RNA	NR_003610.1																						GCCATACCTTCCTGTCTACGG	0.502000													20	77					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58107039	58107039	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr3:58107039G>A	ENST00000357272.4	+	20	3100	c.2935G>A	c.(2935-2937)Gtg>Atg	p.V979M	FLNB_ENST00000490882.1_Missense_Mutation_p.V979M|FLNB_ENST00000295956.4_Missense_Mutation_p.V979M|FLNB_ENST00000348383.5_Missense_Mutation_p.V979M|FLNB_ENST00000429972.2_Missense_Mutation_p.V979M|FLNB_ENST00000358537.3_Missense_Mutation_p.V979M|FLNB_ENST00000419752.2_Missense_Mutation_p.V810M|FLNB_ENST00000493452.1_Missense_Mutation_p.V810M			O75369	FLNB_HUMAN	filamin B, beta	979					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GAAGCTGGACGTGACAATCCT	0.597000													14	44					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47683107	47683107	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr16:47683107G>A	ENST00000455779.1	+	19	1953	c.1768G>A	c.(1768-1770)Gac>Aac	p.D590N	PHKB_ENST00000299167.8_Missense_Mutation_p.D597N|PHKB_ENST00000323584.5_Missense_Mutation_p.D597N|PHKB_ENST00000566044.1_Missense_Mutation_p.D590N			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	597					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GCTGATAGATGACATAAAGGT	0.363000													12	76					0	0	1	0	0
NDE1	54820	broad.mit.edu	37	16	15788066	15788066	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr16:15788066C>T	ENST00000396355.1	+	8	1574	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	NDE1_ENST00000342673.5_Missense_Mutation_p.R250W|NDE1_ENST00000396354.1_Missense_Mutation_p.R250W|NDE1_ENST00000396353.2_Missense_Mutation_p.R250W	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	250	Interaction with CENPF (By similarity).				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						ACCTGCGGCCCGGATATCAGC	0.582000													4	12					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117244379	117244379	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr6:117244379C>G	ENST00000332958.2	+	14	1563	c.1547C>G	c.(1546-1548)tCc>tGc	p.S516C		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	516					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AACAATGCATCCAGTTTTGGT	0.338000													22	76					0	0	1	0	0
KCTD9	54793	broad.mit.edu	37	8	25293948	25293948	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr8:25293948C>A	ENST00000221200.4	-	7	773	c.553G>T	c.(553-555)Gaa>Taa	p.E185*		NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	185						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		ATTGCCACTTCTAGGTGTTCA	0.318000													7	32					8.12818e-05	8.64263e-05	1	1	0
SBF1	6305	broad.mit.edu	37	22	50903533	50903533	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr22:50903533A>C	ENST00000380817.3	-	12	1412	c.1229T>G	c.(1228-1230)cTg>cGg	p.L410R	SBF1_ENST00000390679.3_Missense_Mutation_p.L410R|SBF1_ENST00000348911.6_Missense_Mutation_p.L411R	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1		dDENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GTCCTCTACCAGCCCACGCTG	0.617000													5	18					0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79745843	79745843	+	Silent	SNP	G	G	A	rs143461869		TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr10:79745843G>A	ENST00000372371.3	-	22	3113	c.2976C>T	c.(2974-2976)aaC>aaT	p.N992N		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	992					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CTGTTGTGCCGTTATCATTGA	0.433000													5	96					0	0	1	0	0
LBR	3930	broad.mit.edu	37	1	225607066	225607066	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr1:225607066A>G	ENST00000338179.2	-	5	664	c.539T>C	c.(538-540)aTa>aCa	p.I180T	LBR_ENST00000272163.4_Missense_Mutation_p.I180T	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	180	Nucleoplasmic (Potential).				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		CTTAGAATCTATTTCTTTTAA	0.388000													10	37					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43523150	43523150	+	Silent	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr18:43523150C>T	ENST00000282041.5	-	9	1954	c.1920G>A	c.(1918-1920)gtG>gtA	p.V640V		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	640					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CAATTCGCTTCACAAACTGCC	0.428000													11	32					0	0	1	0	0
ERLEC1	27248	broad.mit.edu	37	2	54028697	54028697	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr2:54028697C>G	ENST00000185150.4	+	7	820	c.689C>G	c.(688-690)aCa>aGa	p.T230R	ERLEC1_ENST00000378239.5_Missense_Mutation_p.T230R|ERLEC1_ENST00000405123.3_Missense_Mutation_p.T230R|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	230					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						GCTGAAGTTACAACTTGTGAA	0.358000													12	43					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73829391	73829391	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr11:73829391C>T	ENST00000334126.7	-	9	1628	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	C2CD3_ENST00000313663.7_Missense_Mutation_p.E468K			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	468						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATATCATCCTCTTCACTGAGG	0.418000													12	58					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981266	7981266	+	Silent	SNP	T	T	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr11:7981266T>G	ENST00000328600.2	-	2	2054	c.1893A>C	c.(1891-1893)atA>atC	p.I631I		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	631							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTGTTCCTGCTATATTATCTT	0.388000													14	37					0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79226942	79226942	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr17:79226942C>T	ENST00000374759.3	-	12	1770	c.1387G>A	c.(1387-1389)Gtg>Atg	p.V463M	SLC38A10_ENST00000288439.5_Missense_Mutation_p.V463M	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	463					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGCACATCCACGGGCCCCTTG	0.677000											OREG0024813	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	77					0	0	1	0	0
TEKT2	27285	broad.mit.edu	37	1	36550617	36550617	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr1:36550617G>C	ENST00000207457.3	+	2	222	c.95G>C	c.(94-96)cGa>cCa	p.R32P		NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	32					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGCTGCAGCGAGATGCTTCC	0.617000													5	35					0	0	1	0	0
BTBD9	114781	broad.mit.edu	37	6	38548069	38548069	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr6:38548069G>A	ENST00000481247.1	-	5	1110	c.959C>T	c.(958-960)tCc>tTc	p.S320F	BTBD9_ENST00000314100.6_Missense_Mutation_p.S252F|BTBD9_ENST00000408958.1_Missense_Mutation_p.S252F|BTBD9_ENST00000403056.1_Missense_Mutation_p.S320F|BTBD9_ENST00000419706.2_Missense_Mutation_p.S261F	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	320					cell adhesion			p.S252F(1)|p.S320F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						CTCGATGCCGGAACGGCAGTC	0.428000													19	55					0	0	1	0	0
F11R	50848	broad.mit.edu	37	1	160971140	160971140	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr1:160971140G>A	ENST00000368026.6	-	2	342	c.68C>T	c.(67-69)tCc>tTc	p.S23F	F11R_ENST00000537746.1_Missense_Mutation_p.S23F|F11R_ENST00000289779.3_3'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	23					blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CAATGCCAGGGAGCCTAAGGA	0.537000													4	20					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89444989	89444989	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr3:89444989C>G	ENST00000336596.2	+	6	1534	c.1309C>G	c.(1309-1311)Cca>Gca	p.P437A	EPHA3_ENST00000452448.2_Missense_Mutation_p.P437A|EPHA3_ENST00000494014.1_Missense_Mutation_p.P437A	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	437	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTTTACAGCTCCATCACCTGT	0.458000										TSP Lung(6;0.00050)			10	51					0	0	1	0	0
SLX4IP	128710	broad.mit.edu	37	20	10602012	10602012	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr20:10602012G>C	ENST00000334534.5	+	7	636	c.456G>C	c.(454-456)gaG>gaC	p.E152D		NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		AGTGTGCAGAGAGTTCACTTC	0.408000													13	44					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127917	152127920	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr1:152127917_152127920delTGTC	ENST00000316073.3	-	3	1719_1722	c.1655_1658delGACA	c.(1654-1659)agacaafs	p.RQ552fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	552	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.505													7	795	---	---	---	---					
SCN7A	6332	broad.mit.edu	37	2	167269154	167269154	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr2:167269154delT	ENST00000409855.1	-	22	3618	c.3492delA	c.(3490-3492)gaafs	p.E1164fs		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1164					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGATGTTGACTTCAAAATGAG	0.249													2	4	---	---	---	---					
PMS2P4	5382	broad.mit.edu	37	7	66762432	66762432	+	RNA	DEL	G	G	-	rs60169909		TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr7:66762432delG	ENST00000414507.1	-	0	184																											gtctcaaaaagaaaaaaaaaa	0.408													3	3	---	---	---	---					
CARKD	55739	broad.mit.edu	37	13	111287820	111287821	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr13:111287820_111287821insG	ENST00000309957.2	+	8	671_672	c.657_658insG	c.(658-660)ggcfs	p.G220fs	CARKD_ENST00000397191.4_3'UTR|CARKD_ENST00000424185.2_Frame_Shift_Ins_p.G110fs|CARKD_ENST00000458711.2_Frame_Shift_Ins_p.G89fs|CARKD_ENST00000470164.2_3'UTR	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	Q8IW45	CARKD_HUMAN	carbohydrate kinase domain containing	220	YjeF C-terminal.									NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						CATAGCTCAGAGGCCCTATGGA	0.545													20	85	---	---	---	---					
MYBPC2	4606	broad.mit.edu	37	19	50938423	50938423	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-AA6X-01A-12D-A42E-08	TCGA-DK-AA6X-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a04339-78d1-45e2-9d42-3b34140fe9e0	f7fccbea-466d-4def-a32e-b86f408873ef	g.chr19:50938423delA	ENST00000357701.5	+	2	76	c.25delA	c.(25-27)aaafs	p.K10fs		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	10					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TACAGCGGCCAAAAAGGCCCC	0.642													2	4	---	---	---	---