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
TFEB	7942	broad.mit.edu	37	6	41654866	41654866	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:41654866C>G	ENST00000394283.1	-	7	1995	c.769G>C	c.(769-771)Gag>Cag	p.E257Q	TFEB_ENST00000358871.2_Missense_Mutation_p.E271Q|TFEB_ENST00000403298.4_Missense_Mutation_p.E257Q|TFEB_ENST00000230323.4_Missense_Mutation_p.E257Q|TFEB_ENST00000373033.1_Missense_Mutation_p.E257Q|TFEB_ENST00000420312.1_Missense_Mutation_p.E172Q			P19484	TFEB_HUMAN	transcription factor EB	257	Helix-loop-helix motif.				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			ATTCCCAACTCCTTGATGCGG	0.532000			T	ALPHA	renal (childhood epithelioid)								19	41					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538975	27538975	+	RNA	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr10:27538975G>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							GTCTCCTGTTGAATTGCTAAA	0.522000													30	182					0	0	1	0	0
HYOU1	10525	broad.mit.edu	37	11	118917472	118917472	+	Missense_Mutation	SNP	C	C	T	rs147237122	byFrequency	TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:118917472C>T	ENST00000404233.3	-	23	2762	c.2638G>A	c.(2638-2640)Gcc>Acc	p.A880T	HYOU1_ENST00000529972.1_Missense_Mutation_p.A818T|HYOU1_ENST00000525859.1_Missense_Mutation_p.A818T	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	880						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		TTCTCTGTGGCGGGCAGCTTA	0.537000													38	90					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6707582	6707582	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr12:6707582G>C	ENST00000309577.6	-	11	1655	c.1492C>G	c.(1492-1494)Ctg>Gtg	p.L498V	CHD4_ENST00000357008.2_Missense_Mutation_p.L498V|CHD4_ENST00000544040.1_Missense_Mutation_p.L491V|CHD4_ENST00000544484.1_Missense_Mutation_p.L495V			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	498	Chromo 1.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TTGCCCTTCAGAGCTGGACAC	0.512000													34	192					0	0	1	0	0
CHRNA2	1135	broad.mit.edu	37	8	27321246	27321246	+	Silent	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr8:27321246G>C	ENST00000407991.1	-	6	1322	c.714C>G	c.(712-714)ggC>ggG	p.G238G	CHRNA2_ENST00000520933.2_Silent_p.G238G|CHRNA2_ENST00000240132.2_Silent_p.G223G	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	238						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	TGTTGTAGGTGCCCGTGGCAT	0.592000													38	63					0	0	1	0	0
DGUOK	1716	broad.mit.edu	37	2	74174011	74174011	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:74174011G>C	ENST00000264093.4	+	3	506	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	DGUOK_ENST00000356837.6_Missense_Mutation_p.E119Q|DGUOK_ENST00000348222.1_Missense_Mutation_p.E141Q|DGUOK_ENST00000462685.1_3'UTR	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	141					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						ACAGATCTTTGAGAGGTCTGT	0.507000													5	32					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49033934	49033934	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr13:49033934G>T	ENST00000267163.4	+	20	2209	c.2071G>T	c.(2071-2073)Gag>Tag	p.E691*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	691	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTGCAGAATGAGTATGAACT	0.433000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			14	45					4.7546e-09	4.98796e-09	1	1	0
LATS1	9113	broad.mit.edu	37	6	150005575	150005575	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:150005575C>T	ENST00000543571.1	-	4	1197	c.650G>A	c.(649-651)gGa>gAa	p.G217E	LATS1_ENST00000253339.5_Missense_Mutation_p.G217E|LATS1_ENST00000392273.3_Missense_Mutation_p.G217E|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	217					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TATACCAGATCCAGACAAAGG	0.512000													29	77					0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128086118	128086118	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr9:128086118G>C	ENST00000470056.1	+	9	1934	c.1774G>C	c.(1774-1776)Gaa>Caa	p.E592Q	GAPVD1_ENST00000394105.2_Missense_Mutation_p.E592Q|GAPVD1_ENST00000297933.6_Missense_Mutation_p.E592Q|GAPVD1_ENST00000312123.9_Missense_Mutation_p.E571Q|GAPVD1_ENST00000495955.1_Missense_Mutation_p.E592Q|GAPVD1_ENST00000394083.2_Missense_Mutation_p.E571Q|GAPVD1_ENST00000265956.4_Missense_Mutation_p.E592Q|GAPVD1_ENST00000394104.2_Missense_Mutation_p.E592Q			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	592					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCTAGACCTAGAAGGAGAGTC	0.433000													23	70					0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148802381	148802381	+	Silent	SNP	G	G	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr7:148802381G>T	ENST00000378061.2	-	4	714	c.582C>A	c.(580-582)gtC>gtA	p.V194V		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	194					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTTTCCTACAGACATAGCAGG	0.502000													15	53					2.31682e-05	2.36288e-05	1	1	0
DGKG	1608	broad.mit.edu	37	3	185985523	185985523	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:185985523T>C	ENST00000265022.3	-	13	1699	c.1160A>G	c.(1159-1161)gAa>gGa	p.E387G	DGKG_ENST00000344484.4_Missense_Mutation_p.E387G|DGKG_ENST00000382164.4_Missense_Mutation_p.E348G|DGKG_ENST00000544847.1_Missense_Mutation_p.E348G	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	387					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GTCTCTGAGTTCCCCACCGTC	0.512000													29	197					0	0	1	0	0
AMY1A	276	broad.mit.edu	37	1	104203096	104203096	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:104203096G>T	ENST00000370083.4	+	7	1213	c.993G>T	c.(991-993)tgG>tgT	p.W331C		NM_001008221.1|NM_004038.3	NP_001008222.1|NP_004029.2			amylase, alpha 1A (salivary)														all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		TTACCTTCTGGGATGCTAGGT	0.378000													76	307					4.493e-44	5.01067e-44	1	1	0
BRINP1	1620	broad.mit.edu	37	9	121929440	121929440	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr9:121929440G>A	ENST00000265922.3	-	8	2669	c.2208C>T	c.(2206-2208)atC>atT	p.I736I	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2			bone morphogenetic protein/retinoic acid inducible neural-specific 1	736																	GGTTCACCCTGATGATCTCGC	0.567000													56	163					0	0	1	0	0
OR2T10	127069	broad.mit.edu	37	1	248756644	248756644	+	Silent	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:248756644G>C	ENST00000330500.2	-	1	456	c.426C>G	c.(424-426)ctC>ctG	p.L142L		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGCCAGGAGGAGACATACCC	0.562000													43	154					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6076734	6076734	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr12:6076734G>A	ENST00000261405.5	-	47	8059	c.7805C>T	c.(7804-7806)aCc>aTc	p.T2602I		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2602	VWFC 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCAGCGGCAGGTCGTGCACAC	0.622000													63	212					0	0	1	0	0
SLA2	84174	broad.mit.edu	37	20	35243766	35243766	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr20:35243766G>T	ENST00000262866.4	-	6	816	c.394C>A	c.(394-396)Ctg>Atg	p.L132M	SLA2_ENST00000360672.2_Missense_Mutation_p.L132M	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	132	SH2.				antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CGGACTGACAGAGAGTAAGAG	0.617000													12	64					1.36491e-13	1.4741e-13	1	1	0
PPFIBP2	8495	broad.mit.edu	37	11	7672106	7672106	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:7672106C>T	ENST00000299492.4	+	22	2545	c.2157C>T	c.(2155-2157)tcC>tcT	p.S719S	PPFIBP2_ENST00000533792.1_Silent_p.S561S|PPFIBP2_ENST00000528883.1_Silent_p.S607S|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Silent_p.S576S	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	719	SAM 3.				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TACAGTGGTCCAACCACAGGG	0.522000													34	99					0	0	1	0	0
SSUH2	51066	broad.mit.edu	37	3	8667330	8667330	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:8667330C>T	ENST00000317371.4	-	17	1930	c.705G>A	c.(703-705)aaG>aaA	p.K235K	SSUH2_ENST00000341795.3_Silent_p.K235K|SSUH2_ENST00000544814.1_Silent_p.K257K|SSUH2_ENST00000415132.1_Silent_p.K235K					ssu-2 homolog (C. elegans)																		ACAAGCTGTTCTTCCTGGAGG	0.502000													25	58					0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124845101	124845101	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:124845101G>C	ENST00000529051.1	+	5	885	c.626G>C	c.(625-627)aGa>aCa	p.R209T	CCDC15_ENST00000344762.5_Missense_Mutation_p.R209T			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	209						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		TTTCTTACCAGAGAGGTAAAT	0.308000													3	18					0	0	1	0	0
NANOGP1	404635	broad.mit.edu	37	12	8051673	8051673	+	RNA	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr12:8051673G>A	ENST00000607111.1	+	0	893																				kidney(1)|lung(4)|prostate(1)	6						AGCCTAATCAGAGAGGTTTCT	0.403000													5	9					0	0	1	0	0
GAN	8139	broad.mit.edu	37	16	81348725	81348725	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr16:81348725G>A	ENST00000568107.2	+	1	169	c.7G>A	c.(7-9)Gag>Aag	p.E3K		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin						cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CGCGATGGCTGAGGGCAGTGC	0.751000													5	7					0	0	1	0	0
BRF1	2972	broad.mit.edu	37	14	105685522	105685522	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr14:105685522C>T	ENST00000546474.1	-	13	16384	c.1425G>A	c.(1423-1425)atG>atA	p.M475I	BRF1_ENST00000547530.1_Start_Codon_SNP_p.M1I|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000549044.1_5'UTR|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000379937.2_Missense_Mutation_p.M448I|BRF1_ENST00000327359.3_Missense_Mutation_p.M360I|BRF1_ENST00000392557.4_Missense_Mutation_p.M271I|BRF1_ENST00000446501.2_Missense_Mutation_p.M237I|BRF1_ENST00000440513.3_Missense_Mutation_p.M382I	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	475					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CGTTCTCCCTCATCCACAGCT	0.662000													38	164					0	0	1	0	0
DLGAP5	9787	broad.mit.edu	37	14	55625316	55625316	+	Silent	SNP	C	C	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr14:55625316C>A	ENST00000247191.2	-	14	2013	c.1797G>T	c.(1795-1797)gtG>gtT	p.V599V	DLGAP5_ENST00000395425.2_Silent_p.V599V	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	599					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CCTTTGGTATCACAGAAACTG	0.363000													13	65					2.68362e-12	2.88012e-12	1	1	0
TERF1	7013	broad.mit.edu	37	8	73921293	73921293	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr8:73921293G>A	ENST00000276602.6	+	1	195	c.172G>A	c.(172-174)Gag>Aag	p.E58K	TERF1_ENST00000276603.5_Missense_Mutation_p.E58K	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	58	Asp/Glu-rich (acidic).|Poly-Glu.|TRFH dimerization.				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			Cgaggaggaggaggaggagga	0.647000													7	25					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32676151	32676151	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr13:32676151C>G	ENST00000380250.3	+	3	818	c.322C>G	c.(322-324)Cag>Gag	p.Q108E		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCAATTTGATCAGGTATGTGA	0.348000													17	35					0	0	1	0	0
SNRPB	6628	broad.mit.edu	37	20	2446385	2446385	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr20:2446385G>C	ENST00000381342.2	-	3	398	c.236C>G	c.(235-237)tCa>tGa	p.S79*	SNRPB_ENST00000438552.2_Nonsense_Mutation_p.S79*|SNRPB_ENST00000339610.6_5'UTR	NM_003091.3	NP_003082.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	79			S -> P (in dbSNP:rs11545672).		histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding	p.S79L(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						TACTGTCATTGAGACCAGATT	0.532000													15	79					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088676	86088676	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr14:86088676C>A	ENST00000330753.4	+	2	1585	c.818C>A	c.(817-819)tCa>tAa	p.S273*	FLRT2_ENST00000554746.1_Nonsense_Mutation_p.S273*	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	273					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ACAGCCTTCTCAAATCTGCGT	0.493000													86	232					6.88379e-33	7.62718e-33	1	1	0
CDHR5	53841	broad.mit.edu	37	11	620145	620145	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:620145G>A	ENST00000358353.3	-	10	1222	c.900C>T	c.(898-900)ttC>ttT	p.F300F	CDHR5_ENST00000397542.2_Silent_p.F300F|CDHR5_ENST00000349570.7_Silent_p.F300F			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	300	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GGTGGATGATGAATGTACCAT	0.632000													12	35					0	0	1	0	0
PAK2	5062	broad.mit.edu	37	3	196541335	196541335	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:196541335G>C	ENST00000327134.3	+	11	1271	c.949G>C	c.(949-951)Gat>Cat	p.D317H		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	317	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CCTGGTAGGAGATGAATTGTT	0.378000													30	153					0	0	1	0	0
SMAD2	4087	broad.mit.edu	37	18	45368251	45368251	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr18:45368251T>C	ENST00000402690.2	-	11	1745	c.1351A>G	c.(1351-1353)Aaa>Gaa	p.K451E	SMAD2_ENST00000356825.4_Missense_Mutation_p.K421E|SMAD2_ENST00000262160.6_Missense_Mutation_p.K451E|SMAD2_ENST00000586040.1_Missense_Mutation_p.K421E	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	451	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						GTTAATACTTTGTCCAACCAC	0.398000													6	23					0	0	1	0	0
IRF5	3663	broad.mit.edu	37	7	128585950	128585950	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr7:128585950C>G	ENST00000402030.2	+	3	319	c.247C>G	c.(247-249)Ccg>Gcg	p.P83A	IRF5_ENST00000477535.1_Missense_Mutation_p.P83A|IRF5_ENST00000473745.1_Missense_Mutation_p.P83A|IRF5_ENST00000357234.5_Missense_Mutation_p.P83A|IRF5_ENST00000249375.4_Missense_Mutation_p.P83A	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	83					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						TGAAGCCGATCCGGCCAAGTG	0.612000													25	62					0	0	1	0	0
PTGER2	5732	broad.mit.edu	37	14	52781833	52781833	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr14:52781833C>T	ENST00000245457.5	+	1	721	c.567C>T	c.(565-567)atC>atT	p.I189I	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	189						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	GGTGCTTCATCCGGCACGGGC	0.602000													30	106					0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115813848	115813848	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr5:115813848C>T	ENST00000343348.6	-	14	2217	c.1430G>A	c.(1429-1431)tGc>tAc	p.C477Y	SEMA6A_ENST00000257414.8_Missense_Mutation_p.C477Y|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.C477Y|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000282394.6_Missense_Mutation_p.C9Y|CTB-118N6.3_ENST00000514214.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	477	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		ATCATAGCTGCATCTAATTTC	0.458000													15	55					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231371044	231371044	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:231371044G>A	ENST00000264052.5	+	22	2252	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	SP100_ENST00000340126.4_Missense_Mutation_p.E633K|SP100_ENST00000409112.1_Missense_Mutation_p.E633K	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	633	SAND.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TATACAGAGTGAGGATAAAAA	0.493000													31	59					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43902925	43902925	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:43902925G>T	ENST00000562955.1	+	42	5947	c.5947G>T	c.(5947-5949)Gtt>Ttt	p.V1983F	SZT2_ENST00000372442.1_Missense_Mutation_p.V1141F	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2040						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTCCTGTGACGTTGTGTGGGG	0.587000													36	152					1.42033e-22	1.56695e-22	1	1	0
FN1	2335	broad.mit.edu	37	2	216236839	216236839	+	Silent	SNP	C	C	T	rs145436721		TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:216236839C>T	ENST00000354785.4	-	40	6876	c.6507G>A	c.(6505-6507)ccG>ccA	p.P2169P	FN1_ENST00000356005.4_Silent_p.P1988P|FN1_ENST00000357867.4_Intron|FN1_ENST00000323926.6_Silent_p.P2169P|FN1_ENST00000432072.2_Intron|FN1_ENST00000346544.3_Intron|FN1_ENST00000421182.1_Silent_p.P1963P|FN1_ENST00000345488.5_Intron|FN1_ENST00000446046.1_Silent_p.P2053P|FN1_ENST00000336916.4_Silent_p.P2078P|FN1_ENST00000357009.2_Intron|FN1_ENST00000359671.1_Silent_p.P2078P|FN1_ENST00000443816.1_Silent_p.P1988P			P02751	FINC_HUMAN	fibronectin 1	2078	Fibronectin type-III 16.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACCTACATTCGGCGGGTATG	0.527000													23	38					0	0	1	0	0
KCTD12	115207	broad.mit.edu	37	13	77459733	77459733	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr13:77459733C>T	ENST00000377474.2	-	1	792	c.551G>A	c.(550-552)cGc>cAc	p.R184H	KCTD12_ENST00000317765.2_Missense_Mutation_p.R184H	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	184						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		ggACGGACTGCGGCTAGCCAG	0.751000													5	8					0	0	1	0	0
KLHL15	80311	broad.mit.edu	37	X	24024468	24024468	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chrX:24024468C>G	ENST00000328046.8	-	3	598	c.343G>C	c.(343-345)Gaa>Caa	p.E115Q		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	115										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						TTCACCACTTCTATAAGTTGA	0.393000													28	38					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961555	34961555	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chrX:34961555C>A	ENST00000329357.5	+	1	643	c.607C>A	c.(607-609)Ctt>Att	p.L203I		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	203	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCGTCCTCAGCTTCCCAAGAC	0.642000													15	52					1.3612e-06	1.4107e-06	1	1	0
RNF17	56163	broad.mit.edu	37	13	25444833	25444833	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr13:25444833A>C	ENST00000255324.5	+	32	4455	c.4403A>C	c.(4402-4404)aAt>aCt	p.N1468T	RNF17_ENST00000339524.3_Missense_Mutation_p.N478T|RNF17_ENST00000381921.1_Missense_Mutation_p.N1426T	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1468					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CAGAGGGTTAATAAGAAGGTA	0.408000													19	49					0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111635293	111635293	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr10:111635293G>C	ENST00000502935.1	-	15	1503	c.1384C>G	c.(1384-1386)Caa>Gaa	p.Q462E	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.Q348E|XPNPEP1_ENST00000322238.8_Intron|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.Q419E			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	419					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TACTTGTATTGAGCACCCGAG	0.463000													8	37					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109086800	109086800	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:109086800G>C	ENST00000309863.6	+	6	1729	c.1015G>C	c.(1015-1017)Gat>Cat	p.D339H		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	339					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACACTTAGAAGATACCTTAAA	0.294000													13	56					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14107379	14107379	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:14107379C>G	ENST00000235372.7	+	8	3945	c.3089C>G	c.(3088-3090)tCt>tGt	p.S1030C	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.S829C|PRDM2_ENST00000343137.4_Missense_Mutation_p.S829C|PRDM2_ENST00000311066.5_Missense_Mutation_p.S1030C	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1030	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GTGTCCCCCTCTCCCTCTCCC	0.602000													12	98					0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38343586	38343586	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr10:38343586C>T	ENST00000374618.3	+	5	712	c.534C>T	c.(532-534)ctC>ctT	p.L178L	ZNF33A_ENST00000307441.9_Silent_p.L177L|ZNF33A_ENST00000458705.2_Silent_p.L177L|ZNF33A_ENST00000432900.2_Silent_p.L184L|ZNF33A_ENST00000469037.2_Intron	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	177						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AATTGTTACTCAATATTAAGC	0.333000													34	70					0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323909	29323909	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:29323909C>A	ENST00000377154.1	-	4	363	c.64G>T	c.(64-66)Gaa>Taa	p.E22*	OR5V1_ENST00000543825.1_Nonsense_Mutation_p.E22*			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E22*(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AACTGCAATTCATTTAGGTTG	0.368000													30	78					1.2476e-16	1.36464e-16	1	1	0
KMT2C	58508	broad.mit.edu	37	7	151945062	151945062	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr7:151945062G>A	ENST00000355193.2	-	14	2675	c.2457C>T	c.(2455-2457)gtC>gtT	p.V819V	KMT2C_ENST00000262189.6_Silent_p.V819V					lysine (K)-specific methyltransferase 2C																		TTTTTGGAGTGACTGAGATGT	0.423000													20	346					0	0	1	0	0
XRCC1	7515	broad.mit.edu	37	19	44050102	44050102	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr19:44050102C>T	ENST00000262887.5	-	14	2036	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	XRCC1_ENST00000543982.1_Missense_Mutation_p.E466K			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	497					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TCCTTCTGCTCTGCCACCCTG	0.627000								Other BER factors					15	95					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31600575	31600575	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:31600575G>C	ENST00000376033.2	+	16	4359	c.4125G>C	c.(4123-4125)caG>caC	p.Q1375H	PRRC2A_ENST00000376007.4_Missense_Mutation_p.Q1375H	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1375	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						ATCTGAGCCAGAGAGCCAAGG	0.617000													51	232					0	0	1	0	0
ZDHHC5	25921	broad.mit.edu	37	11	57457550	57457550	+	Silent	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:57457550G>C	ENST00000287169.3	+	5	1794	c.432G>C	c.(430-432)cgG>cgC	p.R144R	ZDHHC5_ENST00000527985.1_Silent_p.R91R	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	144						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						TTGGTCGCCGGAACTACCGTT	0.463000													55	151					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35578656	35578656	+	Silent	SNP	A	A	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr17:35578656A>T	ENST00000353139.5	-	29	4153	c.3672T>A	c.(3670-3672)tcT>tcA	p.S1224S	ACACA_ENST00000335166.5_Silent_p.S1109S|ACACA_ENST00000360679.3_Silent_p.S1129S|ACACA_ENST00000394406.2_Silent_p.S1187S	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1187					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGTTTGGATGAGATGTGGGCA	0.468000													19	70					0	0	1	0	0
NXPE2	120406	broad.mit.edu	37	11	114568992	114568992	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:114568992C>G	ENST00000375475.5	+	3	456	c.358C>G	c.(358-360)Caa>Gaa	p.Q120E	NXPE2_ENST00000389586.4_Missense_Mutation_p.Q120E					neurexophilin and PC-esterase domain family, member 2																		CCTCAACCCTCAAGATACGTA	0.547000													17	61					0	0	1	0	0
ACAP2	23527	broad.mit.edu	37	3	195027995	195027995	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:195027995C>G	ENST00000326793.6	-	12	1197	c.967G>C	c.(967-969)Gac>Cac	p.D323H		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	323	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CGCTCTATGTCTTCACAATGT	0.383000													42	142					0	0	1	0	0
SLC40A1	30061	broad.mit.edu	37	2	190428666	190428666	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:190428666G>A	ENST00000261024.2	-	7	1472	c.1046C>T	c.(1045-1047)tCa>tTa	p.S349L		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	349					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			AGTTATAGCTGATGCTCCCAT	0.473000													5	30					0	0	1	0	0
PEPD	5184	broad.mit.edu	37	19	34003543	34003543	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr19:34003543C>T	ENST00000244137.7	-	2	190	c.157G>A	c.(157-159)Gag>Aag	p.E53K	PEPD_ENST00000397032.4_Missense_Mutation_p.E53K|PEPD_ENST00000436370.3_Missense_Mutation_p.E53K	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D						cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					CGCTGAGTCTCCTCCCCGCCC	0.667000													19	75					0	0	1	0	0
PLA2G4B	100137049	broad.mit.edu	37	15	42127091	42127091	+	Splice_Site	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr15:42127091G>C	ENST00000542534.2	+	2	258	c.218G>C	c.(217-219)aGa>aCa	p.R73T	JMJD7_ENST00000397299.4_Splice_Site_p.R73T|JMJD7_ENST00000408047.1_Splice_Site|JMJD7-PLA2G4B_ENST00000382448.4_Splice_Site_p.R73T|JMJD7-PLA2G4B_ENST00000342159.4_Splice_Site_p.R73T	NM_005090.3	NP_005081.1			phospholipase A2, group IVB (cytosolic)														all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		CCCTATTTCAGGTGGGAGCTG	0.612000													31	81					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140868825	140868825	+	Silent	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr5:140868825C>G	ENST00000252087.1	+	1	18	c.18C>G	c.(16-18)ctC>ctG	p.L6L	PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		6					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAGACACTCCCACAGCTCG	0.572000													13	55					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105404267	105404267	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:105404267C>T	ENST00000264122.4	-	14	2419	c.2098G>A	c.(2098-2100)Gac>Aac	p.D700N	CBLB_ENST00000403724.1_Missense_Mutation_p.D700N|CBLB_ENST00000405772.1_Missense_Mutation_p.D700N|CBLB_ENST00000394027.3_Missense_Mutation_p.D722N	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	700	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TCTACTGGGTCTCTTGTTTTC	0.388000			Mis S		AML								15	50					0	0	1	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90573672	90573672	+	RNA	SNP	G	G	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:90573672G>T	ENST00000551025.1	+	0	3681							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GTATGGAGATGAAGGTGGCAC	0.358000													20	51					5.35047e-06	5.52272e-06	1	1	0
DOCK4	9732	broad.mit.edu	37	7	111379200	111379200	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr7:111379200T>A	ENST00000428084.1	-	49	5494	c.5222A>T	c.(5221-5223)gAg>gTg	p.E1741V	DOCK4_ENST00000437633.1_Missense_Mutation_p.E1732V|DOCK4_ENST00000494651.2_Missense_Mutation_p.E615V			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1732	Ser-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTGCGAAGGCTCCACAGGTGT	0.468000													32	70					0	0	1	0	0
C9orf24	84688	broad.mit.edu	37	9	34397520	34397520	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr9:34397520C>G	ENST00000297623.2	-	1	310	c.112G>C	c.(112-114)Gaa>Caa	p.E38Q		NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	chromosome 9 open reading frame 24	38										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		TTGTTGGCTTCCCAGGCACAC	0.552000													49	161					0	0	1	0	0
RNF125	54941	broad.mit.edu	37	18	29598873	29598873	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr18:29598873C>T	ENST00000217740.3	+	1	539	c.47C>T	c.(46-48)tCt>tTt	p.S16F	RP11-53I6.2_ENST00000583184.1_RNA	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	16					negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GCGCCCGCCTCTGCCACCGCG	0.692000													8	21					0	0	1	0	0
GCNT2	2651	broad.mit.edu	37	6	10586313	10586313	+	Nonsense_Mutation	SNP	A	A	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:10586313A>T	ENST00000265012.4	+	1	335	c.91A>T	c.(91-93)Aaa>Taa	p.K31*	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000316170.3_Intron	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	32						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GAGCCCGCCAAAAAGTTATGA	0.388000													36	180					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78084745	78084745	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr17:78084745G>A	ENST00000302262.3	+	11	1776	c.1557G>A	c.(1555-1557)atG>atA	p.M519I	GAA_ENST00000390015.3_Missense_Mutation_p.M519I	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	519			M -> T (in GSD2; severe; loss of activity).|M -> V (in GSD2).		cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	TGCAGGACATGAACGAGCCTT	0.627000													25	79					0	0	1	0	0
CD244	51744	broad.mit.edu	37	1	160811374	160811374	+	Splice_Site	SNP	C	C	T	rs115868021	byFrequency	TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:160811374C>T	ENST00000368034.4	-	2	556	c.379G>A	c.(379-381)Gat>Aat	p.D127N	CD244_ENST00000322302.7_Splice_Site_p.E127K|CD244_ENST00000368033.3_Splice_Site_p.E127K|CD244_ENST00000368032.2_Splice_Site_p.D127N	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	132				ESLLPDK -> GMAMCPM (in Ref. 10; AAK50015).	blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GGAGACTTACCAAATACAAAA	0.473000													41	54					0	0	1	0	0
SKIDA1	387640	broad.mit.edu	37	10	21806587	21806587	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr10:21806587C>G	ENST00000449193.2	-	4	2417	c.165G>C	c.(163-165)aaG>aaC	p.K55N	SKIDA1_ENST00000444772.3_Missense_Mutation_p.K55N	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1																		AGTGGTGCTTCTTCACTTTCA	0.532000													28	46					0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56532733	56532733	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr12:56532733C>T	ENST00000394048.5	+	24	2792	c.2528C>T	c.(2527-2529)cCt>cTt	p.P843L	ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000267113.4_Missense_Mutation_p.P853L|ESYT1_ENST00000541590.1_Missense_Mutation_p.P853L	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	843	C2 4.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						ACTTCAGCCCCTGTCTGGGAT	0.433000													8	58					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997133	82997133	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr7:82997133C>G	ENST00000307792.3	-	17	2564	c.2097G>C	c.(2095-2097)caG>caC	p.Q699H	SEMA3E_ENST00000427262.1_Missense_Mutation_p.Q639H	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	699					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AGATGCTACTCTGAGCAGGAC	0.468000													19	73					0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148802180	148802180	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr7:148802180G>A	ENST00000378061.2	-	4	915	c.783C>T	c.(781-783)ctC>ctT	p.L261L		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	261					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GATGAGTGACGAGGCTGCCCT	0.597000													30	92					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185956592	185956592	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:185956592G>A	ENST00000271588.4	+	20	3193	c.2964G>A	c.(2962-2964)caG>caA	p.Q988Q	HMCN1_ENST00000367492.2_Silent_p.Q988Q|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	988	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGGGCAGCAGATACTCAGTA	0.398000													30	163					0	0	1	0	0
CYP7A1	1581	broad.mit.edu	37	8	59410875	59410875	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr8:59410875G>A	ENST00000301645.3	-	2	371	c.234C>T	c.(232-234)ttC>ttT	p.F78F		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	78					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GATTTGTGATGAAATGGACAT	0.378000									Neonatal Giant Cell Hepatitis				33	97					0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6292373	6292373	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:6292373G>A	ENST00000525462.1	+	4	1154	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E	CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000334619.2_Missense_Mutation_p.G315E|CCKBR_ENST00000532715.1_Missense_Mutation_p.G231E			P32239	GASR_HUMAN	cholecystokinin B receptor	315					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CCTGGGCCGGGATCCGGCTCC	0.632000													47	114					0	0	1	0	0
DCBLD2	131566	broad.mit.edu	37	3	98538242	98538242	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:98538242C>T	ENST00000326840.6	-	8	1253	c.891G>A	c.(889-891)ggG>ggA	p.G297G	DCBLD2_ENST00000326857.9_Silent_p.G297G	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	297	F5/8 type C.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						CAGACTCCATCCCCAGTGTTC	0.423000													23	47					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13223598	13223598	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr9:13223598C>G	ENST00000319217.7	-	5	752	c.505G>C	c.(505-507)Gag>Cag	p.E169Q	MPDZ_ENST00000447879.1_Missense_Mutation_p.E169Q|MPDZ_ENST00000546205.1_Missense_Mutation_p.E169Q|MPDZ_ENST00000541718.1_Missense_Mutation_p.E169Q|MPDZ_ENST00000381022.2_Missense_Mutation_p.E169Q|MPDZ_ENST00000381015.4_Missense_Mutation_p.E169Q|MPDZ_ENST00000536827.1_Missense_Mutation_p.E169Q	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	169	PDZ 1.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TCTTGTATCTCTTGAACAAAT	0.453000													5	49					0	0	1	0	0
ZNF514	84874	broad.mit.edu	37	2	95818969	95818969	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:95818969G>A	ENST00000295208.2	-	3	492	c.30C>T	c.(28-30)ttC>ttT	p.F10F	ZNF514_ENST00000411425.1_Silent_p.F10F	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	10	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						CCCACTGGCTGAATTCCACAG	0.488000													27	58					0	0	1	0	0
BCKDHA	593	broad.mit.edu	37	19	41928202	41928202	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr19:41928202C>T	ENST00000269980.2	+	6	1148	c.780C>T	c.(778-780)atC>atT	p.I260I	BCKDHA_ENST00000457836.2_Silent_p.I238I|BCKDHA_ENST00000595085.1_Silent_p.I294I|BCKDHA_ENST00000535632.1_3'UTR|CTC-435M10.3_ENST00000540732.1_Silent_p.I294I	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	260					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						AGTGCCCCATCATCTTCTTCT	0.612000													76	147					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109389434	109389434	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:109389434G>C	ENST00000283195.6	+	23	8350	c.8224G>C	c.(8224-8226)Gat>Cat	p.D2742H		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2742	2 X 50 AA approximate repeats.|Interaction with SUMO1.				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						AGTCTGTAGTGATACTGATGA	0.358000													3	40					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73071525	73071525	+	RNA	SNP	A	A	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chrX:73071525A>G	ENST00000429829.1	-	0	1063					NR_001564.2																						AAATCAATTCATTCAGATAGG	0.428000													13	17					0	0	1	0	0
RRAS	6237	broad.mit.edu	37	19	50139032	50139032	+	Silent	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr19:50139032G>C	ENST00000246792.3	-	5	633	c.531C>G	c.(529-531)ctC>ctG	p.L177L		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	177					axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		CGTCCACGTTGAGACGCAGTT	0.647000													24	69					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31601166	31601166	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:31601166G>C	ENST00000376033.2	+	17	4564	c.4330G>C	c.(4330-4332)Gag>Cag	p.E1444Q	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E1444Q	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1444	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCGTCCTCCAGAGGAGCGTCC	0.532000													17	84					0	0	1	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22888354	22888354	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr8:22888354G>A	ENST00000276431.4	-	3	566	c.282C>T	c.(280-282)tgC>tgT	p.C94C	TNFRSF10B_ENST00000542226.1_5'UTR|TNFRSF10B_ENST00000347739.3_Silent_p.C94C|TNFRSF10B_ENST00000519910.1_5'UTR	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	94					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TGCAGGAGATGCAATCTCTAC	0.512000													8	19					0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130914882	130914882	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:130914882C>G	ENST00000409031.1	-	12	2304	c.1156G>C	c.(1156-1158)Gag>Cag	p.E386Q	SMPD4_ENST00000431183.2_Missense_Mutation_p.E284Q|SMPD4_ENST00000452225.2_Missense_Mutation_p.E127Q|SMPD4_ENST00000453750.1_Missense_Mutation_p.E135Q|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000443958.2_Missense_Mutation_p.E50Q|SMPD4_ENST00000351288.6_Missense_Mutation_p.E357Q|SMPD4_ENST00000339679.7_Missense_Mutation_p.E244Q|SMPD4_ENST00000426662.2_Intron	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	347					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GAGGCCTGCTCTGGCTTCAGG	0.652000													6	10					0	0	1	0	0
CGREF1	10669	broad.mit.edu	37	2	27324700	27324700	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:27324700G>A	ENST00000402394.1	-	6	667	c.399C>T	c.(397-399)ctC>ctT	p.L133L	CGREF1_ENST00000452318.2_Silent_p.L37L|CGREF1_ENST00000404694.3_Silent_p.L255L|CGREF1_ENST00000312734.4_Silent_p.L133L|CGREF1_ENST00000405600.1_Silent_p.L133L|CGREF1_ENST00000260595.5_Silent_p.L133L|CGREF1_ENST00000402550.1_Intron	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	133	EF-hand 2.				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGGGTCATGAGCCCATCCC	0.587000													24	68					0	0	1	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001305	13001305	+	Silent	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:13001305G>C	ENST00000376189.1	-	3	477	c.378C>G	c.(376-378)ctC>ctG	p.L126L	PRAMEF6_ENST00000415464.2_Silent_p.L126L|PRAMEF6_ENST00000376192.5_Intron	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	126										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTGGCATTGAGGAAGCACC	0.502000													78	284					0	0	1	0	0
SGK1	6446	broad.mit.edu	37	6	134495197	134495197	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:134495197C>T	ENST00000367858.5	-	5	1056	c.459G>A	c.(457-459)ttG>ttA	p.L153L	SGK1_ENST00000528577.1_Silent_p.L86L|SGK1_ENST00000413996.3_Silent_p.L72L|SGK1_ENST00000237305.7_Silent_p.L58L|SGK1_ENST00000475719.2_Silent_p.L58L|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000367857.5_Silent_p.L48L	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	58	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.L86F(1)|p.L153F(1)|p.L48F(1)|p.L58F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GGGAGATCTTCAAGATGGACT	0.498000													33	139					0	0	1	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46120253	46120253	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:46120253C>T	ENST00000355105.3	-	6	1799	c.439G>A	c.(439-441)Gac>Aac	p.D147N	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.D147N	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TCCACCTTGTCTTCTTTCTTT	0.433000													18	76					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108718743	108718743	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chrX:108718743G>C	ENST00000218006.2	-	2	714	c.423C>G	c.(421-423)agC>agG	p.S141R		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	141					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CTTTGTCCCAGCTGTTTCCCA	0.507000											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	166	145					0	0	1	0	0
ZDHHC5	25921	broad.mit.edu	37	11	57457644	57457644	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:57457644G>C	ENST00000287169.3	+	5	1888	c.526G>C	c.(526-528)Gag>Cag	p.E176Q	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.E123Q	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	176						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CTACCACATAGAGGAACTCTC	0.502000													34	140					0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11964244	11964244	+	Silent	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:11964244C>G	ENST00000339865.5	+	19	3235	c.2472C>G	c.(2470-2472)ctC>ctG	p.L824L	USP47_ENST00000399455.2_Silent_p.L912L|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Silent_p.L892L	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	912					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		AATCACCTCTCAATGAGAGGG	0.418000													19	58					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6595073	6595073	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr9:6595073G>T	ENST00000321612.6	-	9	1352	c.1202C>A	c.(1201-1203)tCc>tAc	p.S401Y		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	401					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CAGCCCATGGGAACCATGGTA	0.418000													89	207					3.98749e-38	4.43728e-38	1	1	0
TMC3	342125	broad.mit.edu	37	15	81636348	81636348	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr15:81636348G>A	ENST00000558726.1	-	14	1695	c.1560C>T	c.(1558-1560)acC>acT	p.T520T	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Silent_p.T519T			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	519						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGCTCGCCACGGTGAAGAGCA	0.512000													19	47					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3215035	3215035	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr18:3215035G>A	ENST00000356443.4	-	2	520	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	MYOM1_ENST00000261606.7_Missense_Mutation_p.R63W|MYOM1_ENST00000400569.3_Missense_Mutation_p.R63W|RP13-270P17.2_ENST00000580139.1_RNA	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	63						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCGGACGCCCGACGGAAGGCC	0.692000													13	127					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16958047	16958047	+	RNA	SNP	C	C	T	rs9658896	by1000genomes	TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:16958047C>T	ENST00000412962.1	-	0	74																											CCTTAGGCTCCGCTGTAGCCC	0.667000													4	15					0	0	1	0	0
GRN	2896	broad.mit.edu	37	17	42427072	42427072	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr17:42427072G>A	ENST00000053867.3	+	4	364	c.302G>A	c.(301-303)cGg>cAg	p.R101Q	GRN_ENST00000589265.1_Missense_Mutation_p.R101Q	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	101					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGCTGCCCACGGGGCTTCCAC	0.622000													17	48					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151163831	151163831	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:151163831G>C	ENST00000282466.3	-	4	3937	c.3938C>G	c.(3937-3939)tCa>tGa	p.S1313*		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1313					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTTTGCGTTGATATGATGCT	0.423000													31	357					0	0	1	0	0
RRP8	23378	broad.mit.edu	37	11	6622489	6622489	+	Silent	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:6622489G>C	ENST00000254605.6	-	3	924	c.807C>G	c.(805-807)ctC>ctG	p.L269L	RRP8_ENST00000534343.1_Intron	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	269					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CTTCCTGGAAGAGACGCTGTG	0.607000													5	24					0	0	1	0	0
PPM1G	5496	broad.mit.edu	37	2	27607710	27607710	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:27607710C>T	ENST00000344034.4	-	5	919	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	PPM1G_ENST00000350803.4_Missense_Mutation_p.E219K	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	219					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GTCCCACGTTCCGAGTTGGAG	0.582000													30	64					0	0	1	0	0
LRRC59	55379	broad.mit.edu	37	17	48470174	48470174	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr17:48470174G>C	ENST00000225972.7	-	3	485	c.250C>G	c.(250-252)Ctg>Gtg	p.L84V		NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	84						endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			AGGTTGACCAGACGGCCAAAG	0.512000													36	120					0	0	1	0	0
BCL2A1	597	broad.mit.edu	37	15	80263081	80263081	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr15:80263081C>T	ENST00000267953.3	-	1	707	c.381G>A	c.(379-381)atG>atA	p.M127I	BCL2A1_ENST00000335661.6_Missense_Mutation_p.M127I	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	127					anti-apoptosis|apoptosis	cytoplasm	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						CTGTGTTATTCATTATGAACT	0.378000													36	136					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37880997	37880997	+	Missense_Mutation	SNP	G	G	A	rs28933369		TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr17:37880997G>A	ENST00000406381.2	+	22	2746	c.2236G>A	c.(2236-2238)Ggt>Agt	p.G746S	ERBB2_ENST00000269571.5_Missense_Mutation_p.G776S|ERBB2_ENST00000584450.1_Missense_Mutation_p.G776S|ERBB2_ENST00000541774.1_Missense_Mutation_p.G761S|ERBB2_ENST00000584601.1_Missense_Mutation_p.G746S|ERBB2_ENST00000445658.2_Missense_Mutation_p.G500S|ERBB2_ENST00000540147.1_Missense_Mutation_p.G746S	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	776	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A775_G776insYVMA(10)|p.G776>VC(9)|p.G776>LC(3)|p.G776S(2)|p.G776C(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CGTGATGGCTGGTGTGGGCTC	0.582000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			23	97					0	0	1	0	0
CCNB1	891	broad.mit.edu	37	5	68467267	68467267	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr5:68467267G>A	ENST00000256442.5	+	4	787	c.534G>A	c.(532-534)ctG>ctA	p.L178L		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	178					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole				large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		ATGCTTATCTGAGACAACTTG	0.313000													10	73					0	0	1	0	0
AUP1	550	broad.mit.edu	37	2	74755973	74755973	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:74755973C>G	ENST00000377526.3	-	4	738	c.429G>C	c.(427-429)aaG>aaC	p.K143N		NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN	ancient ubiquitous protein 1	209						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						CACAGAATCTCTTGAGTGACT	0.607000													33	87					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103173929	103173929	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:103173929C>T	ENST00000375735.2	+	76	11347	c.11203C>T	c.(11203-11205)Cag>Tag	p.Q3735*	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.Q3742*	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3735	AAA 6 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGATCCTTCTCAGGAACTTCA	0.418000													12	48					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81110975	81110975	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr12:81110975G>C	ENST00000228644.3	+	1	285	c.133G>C	c.(133-135)Gag>Cag	p.E45Q		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	45					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.E45*(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GCACAAAGCAGAGCTGCAGGG	0.617000													16	36					0	0	1	0	0
CUL4A	8451	broad.mit.edu	37	13	113893793	113893793	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr13:113893793G>A	ENST00000451881.1	+	10	912	c.663G>A	c.(661-663)caG>caA	p.Q221Q	CUL4A_ENST00000375440.4_Silent_p.Q321Q|CUL4A_ENST00000326335.4_Silent_p.Q221Q|CUL4A_ENST00000375441.3_Silent_p.Q221Q	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	321					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			ACCTCGCACAGATGTACCAGC	0.597000													31	105					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120651012	120651012	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr8:120651012C>T	ENST00000259486.6	-	1	58	c.9G>A	c.(7-9)agG>agA	p.R3R	ENPP2_ENST00000427067.2_Intron|ENPP2_ENST00000075322.6_Silent_p.R3R|ENPP2_ENST00000522826.1_Silent_p.R3R	NM_006209.4	NP_006200.3	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	3					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACGAGCTCCTCCTTGCCATGT	0.483000													28	57					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259646	89259646	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:89259646G>A	ENST00000336596.2	+	3	1015	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	EPHA3_ENST00000452448.2_Missense_Mutation_p.E264K|EPHA3_ENST00000494014.1_Missense_Mutation_p.E264K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	264	Cys-rich.					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)		TGCTGGCTATGAAGAAAGAGG	0.403000										TSP Lung(6;0.00050)			28	246					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77147176	77147176	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:77147176C>A	ENST00000461745.1	+	2	973	c.73C>A	c.(73-75)Cgc>Agc	p.R25S	ROBO2_ENST00000332191.8_Missense_Mutation_p.R25S|ROBO2_ENST00000487694.3_Missense_Mutation_p.R41S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	25					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATCGCGTCTTCGCCAGGAGGA	0.522000													4	25					0.150653	0.150653	1	1	0
USP47	55031	broad.mit.edu	37	11	11964323	11964323	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:11964323C>A	ENST00000339865.5	+	19	3314	c.2551C>A	c.(2551-2553)Cag>Aag	p.Q851K	USP47_ENST00000399455.2_Missense_Mutation_p.Q939K|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.Q919K	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	939					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		AGAAAATTTTCAGTCTGAAGA	0.398000													21	86					3.62473e-10	3.834e-10	1	1	0
RTN4RL2	349667	broad.mit.edu	37	11	57243901	57243901	+	Silent	SNP	T	T	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:57243901T>A	ENST00000335099.3	+	3	1097	c.780T>A	c.(778-780)gcT>gcA	p.A260A		NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2	260					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GGCTCAACGCTAACCCCTGGG	0.731000													6	28					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58299356	58299356	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr13:58299356G>A	ENST00000377918.3	+	4	3434	c.3408G>A	c.(3406-3408)gaG>gaA	p.E1136E		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1136					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGGATGCAGAGGAAGTTGTGA	0.493000													78	298					0	0	1	0	0
SHC1	6464	broad.mit.edu	37	1	154936330	154936330	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:154936330G>C	ENST00000448116.2	-	12	1924	c.1704C>G	c.(1702-1704)atC>atG	p.I568M	SHC1_ENST00000490667.1_5'UTR|SHC1_ENST00000368445.5_Missense_Mutation_p.I567M|SHC1_ENST00000368449.4_Missense_Mutation_p.I338M|SHC1_ENST00000606391.1_Missense_Mutation_p.I368M|SHC1_ENST00000368450.1_Missense_Mutation_p.I457M|SHC1_ENST00000368453.4_Missense_Mutation_p.I458M	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	567	SH2.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGCCCGCAGAGATGATGGGCA	0.537000													10	131					0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294198	124294198	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:124294198G>A	ENST00000356130.3	-	1	591	c.570C>T	c.(568-570)agC>agT	p.S190S		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGACATGGGTGCTGGTGCAGG	0.483000													5	29					0	0	1	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4048019	4048019	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr19:4048019G>A	ENST00000322357.4	-	3	1764	c.1486C>T	c.(1486-1488)Cgc>Tgc	p.R496C	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.R496C	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	496					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		cggccgcggcgcgAGGGGACG	0.771000													16	26					0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143826677	143826677	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr7:143826677C>A	ENST00000408899.2	+	1	527	c.472C>A	c.(472-474)Cct>Act	p.P158T		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GGCTCTGGTCCCTTTAGTTCT	0.542000													86	327					4.3955e-51	4.92335e-51	1	1	0
MBTD1	54799	broad.mit.edu	37	17	49279040	49279040	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr17:49279040C>G	ENST00000586178.1	-	12	1480	c.1137G>C	c.(1135-1137)caG>caC	p.Q379H	MBTD1_ENST00000415868.1_Missense_Mutation_p.Q379H|MBTD1_ENST00000376381.2_Missense_Mutation_p.Q379H	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	379					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			ATTCCCCACTCTGGTCTACTT	0.308000													26	111					0	0	1	0	0
SPATA12	353324	broad.mit.edu	37	3	57108230	57108230	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:57108230G>C	ENST00000334325.1	+	2	1183	c.508G>C	c.(508-510)Gag>Cag	p.E170Q	ARHGEF3_ENST00000338458.4_Intron	NM_181727.1	NP_859078.1	Q7Z6I5	SPT12_HUMAN	spermatogenesis associated 12	170										large_intestine(2)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)		GACATTTACTGAGGGCTGCTT	0.473000													17	168					0	0	1	0	0
PSMD6	9861	broad.mit.edu	37	3	64008135	64008135	+	Silent	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:64008135G>C	ENST00000492933.1	-	3	421	c.369C>G	c.(367-369)ctC>ctG	p.L123L	PSMD6_ENST00000394431.2_Silent_p.L32L|PSMD6_ENST00000482510.1_Silent_p.L31L|PSMD6_ENST00000295901.4_Silent_p.L70L	NM_001271779.1	NP_001258708.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	70					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	ATPase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		TCATTTTATTGAGTAGGTCCA	0.458000													31	77					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1065569	1065569	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr5:1065569C>T	ENST00000264930.5	-	18	2309	c.2266G>A	c.(2266-2268)Gag>Aag	p.E756K		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	756					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TTGGTCTTCTCTGTGCTCATT	0.632000													24	74					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27215956	27215956	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:27215956G>T	ENST00000429845.2	-	29	3112	c.2750C>A	c.(2749-2751)tCa>tAa	p.S917*	NEK10_ENST00000383771.4_Nonsense_Mutation_p.S229*|NEK10_ENST00000383770.3_Nonsense_Mutation_p.S229*|NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000295720.6_Nonsense_Mutation_p.S229*|NEK10_ENST00000357467.2_Nonsense_Mutation_p.S314*			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	917							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CAGAGGGCTTGAACTGGAGCT	0.368000													24	95					2.44723e-14	2.65419e-14	1	1	0
SORCS1	114815	broad.mit.edu	37	10	108378001	108378001	+	Silent	SNP	G	G	T	rs141874647	byFrequency	TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr10:108378001G>T	ENST00000263054.6	-	21	2833	c.2826C>A	c.(2824-2826)tcC>tcA	p.S942S	SORCS1_ENST00000369698.1_Silent_p.S477S|SORCS1_ENST00000344440.6_Silent_p.S942S|SORCS1_ENST00000478809.2_5'UTR	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	942						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TAAATCTGAAGGATATGCTTC	0.453000													25	46					2.79863e-10	2.97246e-10	1	1	0
NID2	22795	broad.mit.edu	37	14	52495523	52495523	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr14:52495523G>C	ENST00000216286.5	-	11	2446	c.2447C>G	c.(2446-2448)tCt>tGt	p.S816C	NID2_ENST00000541773.1_Missense_Mutation_p.S763C	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	816	EGF-like 3; calcium-binding (Potential).					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GATACATACAGAGTTGGGGCC	0.443000													21	64					0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58191715	58191715	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr12:58191715G>A	ENST00000537081.1	-	19	2388	c.2389C>T	c.(2389-2391)Ctg>Ttg	p.L797L	TSFM_ENST00000550559.1_Intron|AVIL_ENST00000257861.3_Silent_p.L804L|TSFM_ENST00000543727.1_Intron|TSFM_ENST00000548851.1_Intron			O75366	AVIL_HUMAN	advillin	804	HP.|Headpiece (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CAGCCAGGCAGAGCTGCAAAT	0.428000													20	60					0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66329733	66329733	+	RNA	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:66329733G>A	ENST00000502692.1	+	0	2573				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TACAGAAGCAGAATGGGATGA	0.592000													40	178					0	0	1	0	0
ARL16	339231	broad.mit.edu	37	17	79650079	79650079	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr17:79650079G>C	ENST00000397498.4	-	3	368	c.270C>G	c.(268-270)atC>atG	p.I90M	ARL16_ENST00000570561.1_Missense_Mutation_p.I4M|ARL16_ENST00000573392.1_Intron|ARL16_ENST00000574938.1_Intron|ARL16_ENST00000576135.1_Missense_Mutation_p.I4M	NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	90							GTP binding			central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			AACTGGACCAGATGGGGCCCA	0.507000													63	231					0	0	1	0	0
CHI3L1	1116	broad.mit.edu	37	1	203151890	203151890	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:203151890C>T	ENST00000255409.3	-	6	681	c.556G>A	c.(556-558)Gac>Aac	p.D186N		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	186					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						TAGCTGCTGTCAATGGTGACC	0.567000													11	92					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117810729	117810729	+	Silent	SNP	A	A	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr9:117810729A>G	ENST00000350763.4	-	16	5073	c.4662T>C	c.(4660-4662)aaT>aaC	p.N1554N	TNC_ENST00000345230.3_Intron|TNC_ENST00000423613.2_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000341037.4_Intron|TNC_ENST00000481475.1_5'UTR|TNC_ENST00000340094.3_Silent_p.N1190N|TNC_ENST00000346706.3_Intron|TNC_ENST00000542877.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1554	Fibronectin type-III 11.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGTCAAAGGCATTCTCCGATG	0.517000													25	63					0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11150684	11150684	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:11150684C>T	ENST00000544779.1	-	6	690	c.685G>A	c.(685-687)Gag>Aag	p.E229K	EXOSC10_ENST00000304457.7_Missense_Mutation_p.E229K|EXOSC10_ENST00000376936.4_Missense_Mutation_p.E229K			Q01780	EXOSX_HUMAN	exosome component 10	229					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TCCAAGTCCTCAGGACGATCC	0.502000													12	24					0	0	1	0	0
AP1M2	10053	broad.mit.edu	37	19	10692044	10692044	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr19:10692044G>A	ENST00000590923.1	-	6	654	c.571C>T	c.(571-573)Ctg>Ttg	p.L191L	AP1M2_ENST00000250244.6_Silent_p.L191L			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	191	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			ATTTCGCTCAGAAGGACGCTG	0.592000											OREG0025241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	49					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	518408	518408	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr10:518408G>A	ENST00000280886.6	-	3	326	c.239C>T	c.(238-240)tCa>tTa	p.S80L	DIP2C_ENST00000381496.3_5'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	80						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TCGTGACCCTGAAGACCGTCG	0.597000													57	167					0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203194828	203194828	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:203194828G>A	ENST00000367229.1	-	3	260	c.226C>T	c.(226-228)Ctc>Ttc	p.L76F	CHIT1_ENST00000255427.3_Missense_Mutation_p.L76F|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.L86F	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	76					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TCCTGGTAGAGAGTCTCGTCA	0.577000													42	87					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7576855	7576855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr17:7576855G>A	ENST00000420246.2	-	9	1123	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q331*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(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)		CTTAGTACCTGAAGGGTGAAA	0.448000		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)			20	53					0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35717441	35717441	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr20:35717441C>A	ENST00000373664.3	-	2	307	c.241G>T	c.(241-243)Gaa>Taa	p.E81*	RBL1_ENST00000344359.3_Nonsense_Mutation_p.E81*	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	81					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CAGTTGCCTTCCATGATACCC	0.378000													18	68					3.41278e-10	3.61727e-10	1	1	0
SRD5A2	6716	broad.mit.edu	37	2	31805815	31805815	+	RNA	SNP	G	G	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:31805815G>T	ENST00000405650.1	-	0	321							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GCAGGAACCAGGCGGCGCGGG	0.721000													12	51					1.5842e-08	1.64847e-08	1	1	0
CROCC	9696	broad.mit.edu	37	1	17279899	17279899	+	Missense_Mutation	SNP	G	G	A	rs112962041	byFrequency	TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:17279899G>A	ENST00000375541.5	+	21	3178	c.3109G>A	c.(3109-3111)Gag>Aag	p.E1037K	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1037					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGAGAAGGAAGAGCTGAGTGA	0.667000													3	41					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039239	31039239	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr19:31039239C>T	ENST00000355537.3	+	4	2860	c.2713C>T	c.(2713-2715)Caa>Taa	p.Q905*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	905					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AAGAGCTTATCAAAGCATTGT	0.502000													75	297					0	0	1	0	0
INHBE	83729	broad.mit.edu	37	12	57849515	57849515	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr12:57849515C>A	ENST00000266646.2	+	1	412	c.196C>A	c.(196-198)Cct>Act	p.P66T	INHBE_ENST00000551553.1_Intron	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	66					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						AATAACTCATCCTCCACCCCA	0.592000													9	32					5.4927e-09	5.75052e-09	1	1	0
FCER1A	2205	broad.mit.edu	37	1	159275951	159275951	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:159275951G>C	ENST00000368115.1	+	5	604	c.505G>C	c.(505-507)Gaa>Caa	p.E169Q	FCER1A_ENST00000368114.1_Missense_Mutation_p.E136Q	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	169	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TGCCACAGTTGAAGACAGTGG	0.443000													21	138					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76867748	76867748	+	Silent	SNP	C	C	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:76867748C>A	ENST00000409709.3	+	6	785	c.513C>A	c.(511-513)atC>atA	p.I171I	MYO7A_ENST00000409619.2_Silent_p.I160I|MYO7A_ENST00000409893.1_Silent_p.I171I|MYO7A_ENST00000458637.2_Silent_p.I171I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	171	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CAAAGCTGATCCTGCAGTTCC	0.617000													36	139					1.60099e-16	1.74746e-16	1	1	0
KIAA0895	23366	broad.mit.edu	37	7	36396945	36396945	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr7:36396945G>A	ENST00000317020.6	-	2	580	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	KIAA0895_ENST00000440378.1_Missense_Mutation_p.R94C|KIAA0895_ENST00000338533.5_Missense_Mutation_p.R132C|KIAA0895_ENST00000415803.2_Missense_Mutation_p.R132C|KIAA0895_ENST00000297063.6_Missense_Mutation_p.R145C|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000436884.1_5'UTR|KIAA0895_ENST00000453212.1_Intron	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN	KIAA0895	145										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCTTTGCTACGAGAAGTGTTA	0.468000													15	66					0	0	1	0	0
C5orf55	116349	broad.mit.edu	37	5	442650	442650	+	Silent	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr5:442650G>C	ENST00000408966.2	-	1	608	c.288C>G	c.(286-288)ctC>ctG	p.L96L		NM_138464.2	NP_612473.1	Q8N2X6	CE055_HUMAN	chromosome 5 open reading frame 55	96						extracellular region				large_intestine(1)|lung(2)	3						CTGGGCCTCTGAGGGGCCCCG	0.652000													41	160					0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113200085	113200085	+	Silent	SNP	G	G	A	rs147627552		TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr13:113200085G>A	ENST00000261965.3	-	11	1449	c.1263C>T	c.(1261-1263)ctC>ctT	p.L421L	TUBGCP3_ENST00000462580.1_5'UTR|TUBGCP3_ENST00000375669.3_Silent_p.L421L	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	421					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GATGAGACACGAGGCTGAGGA	0.537000													53	193					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121440930	121440930	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:121440930G>C	ENST00000260197.7	+	23	3417	c.3288G>C	c.(3286-3288)tgG>tgC	p.W1096C	SORL1_ENST00000525532.1_Missense_Mutation_p.W40C	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1096	LDL-receptor class A 1.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCATTTGGTGGTGTGACTTTG	0.502000													36	109					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136594449	136594449	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:136594449G>A	ENST00000264162.2	-	1	301	c.291C>T	c.(289-291)ctC>ctT	p.L97L		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	97	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTCCTGCTGGGAGGAGCTGTG	0.552000													16	67					0	0	1	0	0
SMPD1	6609	broad.mit.edu	37	11	6413422	6413422	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:6413422G>A	ENST00000299397.3	+	2	1301	c.1127G>A	c.(1126-1128)aGa>aAa	p.R376K	SMPD1_ENST00000342245.4_Intron|SMPD1_ENST00000527275.1_Intron|SMPD1_ENST00000356761.2_Splice_Site			P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	418			R -> H (in NPDB; also found in a patient with an intermediate form).|R -> L (in NPDB).		cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	GAAGGGAAAAGAAAGGTGAAT	0.537000													12	21					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129621956	129621956	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:129621956G>C	ENST00000421865.2	+	22	3162	c.3113G>C	c.(3112-3114)gGa>gCa	p.G1038A		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1038	Laminin EGF-like 11.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AATACCATTGGAGAGAAATGT	0.438000													17	55					0	0	1	0	0
SEMA4B	10509	broad.mit.edu	37	15	90768319	90768319	+	Silent	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr15:90768319G>C	ENST00000411539.2	+	10	1574	c.1314G>C	c.(1312-1314)ctG>ctC	p.L438L	SEMA4B_ENST00000379122.3_Silent_p.L433L|SEMA4B_ENST00000332496.6_Silent_p.L438L	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GCCGCATGCTGCTGCTGCAGC	0.622000													18	62					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237993920	237993920	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:237993920G>A	ENST00000366574.2	+	103	15063	c.14746G>A	c.(14746-14748)Gct>Act	p.A4916T	RYR2_ENST00000360064.6_Missense_Mutation_p.A4922T|RYR2_ENST00000542537.1_Missense_Mutation_p.A4900T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4916					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)			GCACAACTTGGCTAATTACTT	0.453000													62	111					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64653141	64653141	+	Splice_Site	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr14:64653141G>A	ENST00000357395.3	+	98	17855		c.e98-1		SYNE2_ENST00000554584.1_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Splice_Site|SYNE2_ENST00000344113.4_Splice_Site|SYNE2_ENST00000555002.1_Splice_Site|SYNE2_ENST00000358025.3_Splice_Site			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTAAATGCAGGAACTAGAAC	0.468000													90	314					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541161	55541161	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:55541161T>C	ENST00000361760.1	+	1	248	c.248T>C	c.(247-249)cTg>cCg	p.L83P		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ACACCTAAACTGTTGGAGAAC	0.378000													40	123					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14508300	14508300	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr5:14508300G>C	ENST00000344204.4	+	57	9087	c.9063G>C	c.(9061-9063)caG>caC	p.Q3021H	TRIO_ENST00000537187.1_Missense_Mutation_p.Q2845H|TRIO_ENST00000344135.5_Missense_Mutation_p.Q520H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	3021	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GAGTGAGCCAGAAGGCCAAGG	0.602000													34	93					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125590322	125590322	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr4:125590322C>G	ENST00000504087.1	-	4	5147	c.4110G>C	c.(4108-4110)caG>caC	p.Q1370H	ANKRD50_ENST00000515641.1_Missense_Mutation_p.Q1191H	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1370										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CCTGGTTGCTCTGAAGATGAT	0.423000													33	76					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74900494	74900494	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr17:74900494C>T	ENST00000569840.2	+	6	1254	c.680C>T	c.(679-681)cCc>cTc	p.P227L	MGAT5B_ENST00000428789.2_Missense_Mutation_p.P238L|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000301618.4_Missense_Mutation_p.P227L	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	227						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGCCCCTCCCCAAAGTCCAG	0.632000													4	4					0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69798423	69798423	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr4:69798423G>A	ENST00000251566.4	-	3	949	c.919C>T	c.(919-921)Ctg>Ttg	p.L307L	UGT2A3_ENST00000420231.2_Silent_p.L18L	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	307						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGTGACCCCAGAGAAAACACC	0.388000													21	148					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103907712	103907712	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:103907712C>T	ENST00000302259.3	+	1	405	c.162C>T	c.(160-162)ctC>ctT	p.L54L	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	54	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AGCGACTCCTCATCGAGGACC	0.577000													62	196					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120150421	120150421	+	Silent	SNP	G	G	A	rs142811369	by1000genomes	TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr12:120150421G>A	ENST00000392521.2	-	36	4714	c.4659C>T	c.(4657-4659)tcC>tcT	p.S1553S	CIT_ENST00000261833.7_Silent_p.S1511S|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1511	PH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	p.S1511S(1)|p.S1553S(1)|p.S1539S(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTGCGAGTTCGGAAGCACCAA	0.607000													12	90					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84531580	84531580	+	RNA	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr9:84531580C>T	ENST00000527857.1	+	0	1602					NR_026851.1																						TCCTACTATTCTTGTCCAACG	0.448000													21	44					0	0	1	0	0
FN3KRP	79672	broad.mit.edu	37	17	80684473	80684473	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr17:80684473C>A	ENST00000269373.6	+	5	659	c.586C>A	c.(586-588)Ctg>Atg	p.L196M	FN3KRP_ENST00000535965.1_Missense_Mutation_p.L146M	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	196							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TTGGTCTGCTCTGCAGGTGAG	0.642000													50	123					1.30916e-28	1.44742e-28	1	1	0
RPL36	25873	broad.mit.edu	37	19	5691353	5691353	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr19:5691353C>T	ENST00000577222.1	+	5	661	c.117C>T	c.(115-117)ttC>ttT	p.F39F	RPL36_ENST00000394580.2_Silent_p.F39F|RPL36_ENST00000579649.1_Silent_p.F39F|RPL36_ENST00000347512.3_Silent_p.F39F|RPL36_ENST00000579446.1_Silent_p.F39F			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	39					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome	p.F39F(1)		breast(1)|upper_aerodigestive_tract(1)	2						ACACCAAGTTCGTGCGGGACA	0.597000											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	86					0	0	1	0	0
ZDHHC11	79844	broad.mit.edu	37	5	819658	819658	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr5:819658G>A	ENST00000283441.8	-	10	1511	c.1128C>T	c.(1126-1128)gaC>gaT	p.D376D	ZDHHC11_ENST00000424784.2_Silent_p.D376D|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	376						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			TCGAGCCCCCGTCTGGGTGTA	0.582000													32	137					0	0	1	0	0
BUB1B	701	broad.mit.edu	37	15	40457381	40457381	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr15:40457381C>G	ENST00000287598.6	+	2	358	c.163C>G	c.(163-165)Ctt>Gtt	p.L55V	BUB1B_ENST00000412359.3_Missense_Mutation_p.L55V|BUB1B_ENST00000560120.1_Intron	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	55					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TAACAATACTCTTCAGCAGCA	0.468000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				33	101					0	0	1	0	0
TUBB3	10381	broad.mit.edu	37	16	90001483	90001483	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr16:90001483C>T	ENST00000304984.5	+	3	2703	c.408C>T	c.(406-408)taC>taT	p.Y136Y	TUBB3_ENST00000554444.1_Silent_p.Y136Y|TUBB3_ENST00000315491.7_Silent_p.Y208Y|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000556922.1_Silent_p.Y555Y			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	208					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		AGGCGCTCTACGACATCTGCT	0.617000													52	105					0	0	1	0	0
HGS	9146	broad.mit.edu	37	17	79651104	79651104	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr17:79651104G>A	ENST00000329138.4	+	1	143	c.8G>A	c.(7-9)cGa>cAa	p.R3Q		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	3					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			GCCATGGGGCGAGGCAGCGGC	0.731000													12	17					0	0	1	0	0
OR8B3	390271	broad.mit.edu	37	11	124266454	124266454	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:124266454C>G	ENST00000354597.3	-	1	810	c.794G>C	c.(793-795)gGa>gCa	p.G265A		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CTCCATAGATCCAGAAGAATA	0.403000													8	85					0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113634565	113634565	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:113634565G>C	ENST00000358160.4	+	10	1462	c.970G>C	c.(970-972)Gat>Cat	p.D324H	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.D119H|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.D157H|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.D53H	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	324						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TCCTGAGAAAGATCTTCATGG	0.353000													7	49					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53631594	53631594	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chrX:53631594G>A	ENST00000342160.3	-	25	3155	c.2698C>T	c.(2698-2700)Cat>Tat	p.H900Y	HUWE1_ENST00000218328.8_Missense_Mutation_p.H900Y|HUWE1_ENST00000262854.6_Missense_Mutation_p.H900Y			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	900					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATGTAGGCATGGGCAGCAGTG	0.483000													23	21					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961554	34961554	+	Missense_Mutation	SNP	G	G	T	rs17855582		TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chrX:34961554G>T	ENST00000329357.5	+	1	642	c.606G>T	c.(604-606)caG>caT	p.Q202H		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	202	Pro-rich.			Q -> H (in Ref. 3; AAH35026).						breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TCCGTCCTCAGCTTCCCAAGA	0.647000													15	51					2.32078e-09	2.44469e-09	1	1	0
GIF	2694	broad.mit.edu	37	11	59611371	59611371	+	Silent	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:59611371G>C	ENST00000541311.1	-	2	396	c.162C>G	c.(160-162)ctC>ctG	p.L54L	GIF_ENST00000257248.2_Silent_p.L79L			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	79					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						CGCTGGACATGAGCTGGTAAG	0.547000													12	50					0	0	1	0	0
GDF9	2661	broad.mit.edu	37	5	132198029	132198029	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr5:132198029C>T	ENST00000378673.2	-	3	1483	c.617G>A	c.(616-618)gGa>gAa	p.G206E	GDF9_ENST00000296875.2_Missense_Mutation_p.G206E			O60383	GDF9_HUMAN	growth differentiation factor 9	206					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGTTTCTTTCCAAATTCAAA	0.393000													34	91					0	0	1	0	0
UCKL1	54963	broad.mit.edu	37	20	62571530	62571530	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr20:62571530C>T	ENST00000369908.5	-	14	1794	c.1495G>A	c.(1495-1497)Gac>Aac	p.D499N	UCKL1_ENST00000369892.3_Missense_Mutation_p.D514N|UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000354216.6_Missense_Mutation_p.D514N	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	514					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CGGAAAAGGTCATTGACCCGC	0.622000													17	66					0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65829180	65829180	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:65829180G>A	ENST00000528302.1	+	14	1806	c.1752G>A	c.(1750-1752)ctG>ctA	p.L584L	SF3B2_ENST00000322535.6_Silent_p.L601L			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	601					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AGACACGACTGAAGGAGAAGA	0.512000													16	54					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42116052	42116052	+	Missense_Mutation	SNP	G	G	A	rs140684640		TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr15:42116052G>A	ENST00000457542.2	+	29	4292	c.4006G>A	c.(4006-4008)Gag>Aag	p.E1336K	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.E1219K|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.E1342K|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.E1175K|MAPKBP1_ENST00000514566.1_Intron	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1342										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CAGTACAACTGAGAGATGGGC	0.627000													38	139					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51314787	51314787	+	Nonsense_Mutation	SNP	T	T	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr8:51314787T>A	ENST00000522124.1	+	4	706	c.45T>A	c.(43-45)tgT>tgA	p.C15*	SNTG1_ENST00000517473.1_Nonsense_Mutation_p.C15*|SNTG1_ENST00000518864.1_Nonsense_Mutation_p.C15*|SNTG1_ENST00000276467.5_Nonsense_Mutation_p.C15*	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	15					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CAGGAATTTGTTTGCTGCAGG	0.383000													14	42					0	0	1	0	0
ZNF547	284306	broad.mit.edu	37	19	57888642	57888642	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr19:57888642C>G	ENST00000282282.3	+	4	448	c.298C>G	c.(298-300)Ctg>Gtg	p.L100V	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAAGGACATTCTGCGTCTGGC	0.517000													23	72					0	0	1	0	0
SIX1	6495	broad.mit.edu	37	14	61115680	61115680	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr14:61115680C>T	ENST00000247182.6	-	1	500	c.228G>A	c.(226-228)tcG>tcA	p.S76S	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	76					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		GGTTGTGAGGCGAGAACTGGT	0.617000													84	299					0	0	1	0	0
PDE12	201626	broad.mit.edu	37	3	57545487	57545487	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:57545487G>A	ENST00000311180.8	+	3	1689	c.1586G>A	c.(1585-1587)aGa>aAa	p.R529K	PDE12_ENST00000487257.1_3'UTR	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	529							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		GAGGAGGAAAGATGCAATATG	0.408000													14	138					0	0	1	0	0
IKBIP	121457	broad.mit.edu	37	12	99007404	99007404	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr12:99007404C>T	ENST00000342502.2	-	3	1423	c.1012G>A	c.(1012-1014)Gat>Aat	p.D338N	IKBIP_ENST00000420861.1_Missense_Mutation_p.D232N|IKBIP_ENST00000393042.3_3'UTR	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	338					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TCTTTAATATCCTTAATCTCA	0.303000													4	39					0	0	1	0	0
RNF144A	9781	broad.mit.edu	37	2	7164640	7164640	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:7164640C>T	ENST00000320892.6	+	7	1092	c.650C>T	c.(649-651)tCt>tTt	p.S217F	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	217						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		TGCCTGGAGTCTCTGGACGTG	0.512000													16	55					0	0	1	0	0
CDK11A	728642	broad.mit.edu	37	1	1636344	1636344	+	Splice_Site	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:1636344C>G	ENST00000356200.3	-	12	1589	c.1355G>C	c.(1354-1356)aGa>aCa	p.R452T	CDK11A_ENST00000404249.3_Splice_Site_p.R486T|CDK11A_ENST00000357760.2_Splice_Site_p.R485T|CDK11A_ENST00000358779.5_Splice_Site_p.R476T|CDK11A_ENST00000378638.2_Splice_Site_p.R452T|CDK11A_ENST00000378633.1_Splice_Site_p.R489T|RP1-283E3.8_ENST00000598846.1_RNA					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CATGCTCACTCTAACGGTGAC	0.622000													59	235					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169696928	169696928	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:169696928C>G	ENST00000333360.7	-	9	1559	c.1420G>C	c.(1420-1422)Gag>Cag	p.E474Q	SELE_ENST00000367780.4_Missense_Mutation_p.E349Q|SELE_ENST00000367779.4_Intron|SELE_ENST00000367775.1_Missense_Mutation_p.E349Q|SELE_ENST00000367781.4_Missense_Mutation_p.E411Q|SELE_ENST00000367776.1_Missense_Mutation_p.E411Q|SELE_ENST00000367777.1_Intron|SELE_ENST00000367782.4_Intron|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367774.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	474	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GATGTGCACTCAAGTTGAGTT	0.448000													21	202					0	0	1	0	0
GPS1	2873	broad.mit.edu	37	17	80011222	80011222	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr17:80011222G>A	ENST00000392358.2	+	2	575	c.226G>A	c.(226-228)Gtg>Atg	p.V76M	GPS1_ENST00000578552.1_Missense_Mutation_p.V36M|GPS1_ENST00000320548.4_Missense_Mutation_p.V20M|GPS1_ENST00000355130.2_Missense_Mutation_p.V76M|GPS1_ENST00000306823.6_Missense_Mutation_p.V36M	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	G protein pathway suppressor 1	36					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CGTCAACTACGTGGTGGAGAA	0.667000													15	47					0	0	1	0	0
AHSA1	10598	broad.mit.edu	37	14	77926122	77926122	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr14:77926122G>A	ENST00000216479.3	+	2	404	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	AHSA1_ENST00000555517.1_Missense_Mutation_p.E82K|AHSA1_ENST00000555457.1_3'UTR|AHSA1_ENST00000535854.2_Missense_Mutation_p.E82K	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	82					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CTTCTTTTATGAATGGAGCGT	0.418000													35	132					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138668584	138668584	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chrX:138668584A>T	ENST00000520602.1	-	26	3050	c.2765T>A	c.(2764-2766)gTg>gAg	p.V922E	MCF2_ENST00000338585.6_Missense_Mutation_p.V878E|MCF2_ENST00000370576.4_Missense_Mutation_p.V862E|MCF2_ENST00000536274.1_Intron|MCF2_ENST00000414978.1_Missense_Mutation_p.V922E|MCF2_ENST00000519895.1_Missense_Mutation_p.V938E|MCF2_ENST00000370578.4_Missense_Mutation_p.V1007E|MCF2_ENST00000370573.4_Intron			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	862					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					ACAGACCTCCACCACAGTGCT	0.418000													20	37					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994869	140994869	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chrX:140994869C>G	ENST00000285879.4	+	4	1965	c.1679C>G	c.(1678-1680)tCt>tGt	p.S560C	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	560							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GACTCCCTATCTCCTCACTAC	0.577000										HNSCC(15;0.026)			76	286					0	0	1	0	0
VPS39	23339	broad.mit.edu	37	15	42479543	42479543	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr15:42479543C>G	ENST00000318006.5	-	7	622	c.460G>C	c.(460-462)Gat>Cat	p.D154H	VPS39_ENST00000348544.4_Missense_Mutation_p.D165H	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	165	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TTGGGCACATCTGGCACACTA	0.358000													7	59					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83349602	83349602	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr15:83349602C>T	ENST00000261722.3	-	7	965	c.758G>A	c.(757-759)aGc>aAc	p.S253N	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.S221N|AP3B2_ENST00000535359.1_Missense_Mutation_p.S253N	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	253					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CTGGGTGGGGCTCAGGAACTG	0.652000													5	32					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178416073	178416073	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr5:178416073T>A	ENST00000231188.5	-	6	1395	c.1217A>T	c.(1216-1218)gAt>gTt	p.D406V	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.D406V	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	406					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GTACACCGCATCAATCACAAA	0.657000													13	53					0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123286152	123286152	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr12:123286152C>G	ENST00000253079.6	+	9	1803	c.1459C>G	c.(1459-1461)Caa>Gaa	p.Q487E	CCDC62_ENST00000392441.4_Missense_Mutation_p.Q487E|CCDC62_ENST00000392440.2_Missense_Mutation_p.Q248E|CCDC62_ENST00000537566.1_Missense_Mutation_p.Q248E	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	487						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		TGTAGAATGTCAAGATCAGAT	0.473000													27	47					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53663123	53663123	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr12:53663123C>T	ENST00000257934.4	+	3	488	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	ESPL1_ENST00000552462.1_Missense_Mutation_p.R133C	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	133					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GCAGTGCTCTCGCGAGGCTGC	0.602000													15	67					0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148801973	148801973	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr7:148801973G>C	ENST00000378061.2	-	4	1122	c.990C>G	c.(988-990)ttC>ttG	p.F330L		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	330					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCGGACACTGGAAGGGCTTCT	0.672000													19	72					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56496744	56496744	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:56496744C>T	ENST00000370754.5	-	28	3800	c.3801G>A	c.(3799-3801)caG>caA	p.Q1267Q	DST_ENST00000518935.1_Silent_p.Q763Q|DST_ENST00000446842.2_Silent_p.Q763Q|DST_ENST00000361203.3_Silent_p.Q1089Q|DST_ENST00000312431.6_Silent_p.Q1089Q|DST_ENST00000370788.2_Silent_p.Q1089Q|DST_ENST00000244364.6_Silent_p.Q763Q|DST_ENST00000421834.2_Silent_p.Q1089Q|DST_ENST00000370765.6_Silent_p.Q763Q|DST_ENST00000370769.4_Silent_p.Q1089Q			Q03001	DYST_HUMAN	dystonin	1089					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAGTTCGAATCTGTCTAATCA	0.398000													18	51					0	0	1	0	0
SLCO1B7	338821	broad.mit.edu	37	12	21168674	21168674	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr12:21168674C>T	ENST00000421593.2	+	1	45	c.45C>T	c.(43-45)tcC>tcT	p.S15S	LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3			solute carrier organic anion transporter family, member 1B7 (non-functional)											endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTGAGATATCCTCTTCTCTTG	0.308000													9	24					0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47121335	47121335	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr17:47121335C>G	ENST00000290341.3	+	11	1541	c.1207C>G	c.(1207-1209)Ccc>Gcc	p.P403A	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.P264A	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	403	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCAGCAGGCTCCCGAGCAGGA	0.617000													28	75					0	0	1	0	0
PLEK2	26499	broad.mit.edu	37	14	67862286	67862286	+	Silent	SNP	C	C	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr14:67862286C>A	ENST00000216446.4	-	3	362	c.222G>T	c.(220-222)ctG>ctT	p.L74L		NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	74	PH 1.				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		TTTGAGTCTTCAGCTTAATGA	0.592000													37	108					3.76114e-14	4.0706e-14	1	1	0
PAQR5	54852	broad.mit.edu	37	15	69692415	69692415	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr15:69692415C>T	ENST00000340965.3	+	8	1380	c.712C>T	c.(712-714)Ctg>Ttg	p.L238L	RP11-253M7.1_ENST00000560539.1_RNA|RP11-253M7.1_ENST00000558617.1_RNA|PAQR5_ENST00000561153.1_Silent_p.L238L|PAQR5_ENST00000395407.2_Silent_p.L238L	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	238					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						CTCTGCACATCTGCCAGAACG	0.567000													18	117					0	0	1	0	0
PDE12	201626	broad.mit.edu	37	3	57545618	57545618	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:57545618G>C	ENST00000311180.8	+	3	1820	c.1717G>C	c.(1717-1719)Gaa>Caa	p.E573Q	PDE12_ENST00000487257.1_3'UTR	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	573							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TTTAGAGGTTGAACAGGTGAT	0.408000													24	131					0	0	1	0	0
PDE3B	5140	broad.mit.edu	37	11	14666451	14666451	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:14666451G>T	ENST00000282096.4	+	1	1183	c.830G>T	c.(829-831)cGa>cTa	p.R277L	PDE3B_ENST00000534317.1_3'UTR|PDE3B_ENST00000455098.2_Missense_Mutation_p.R277L	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	277					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTTCATCCTCGACTGTCCAGT	0.612000													29	90					7.26314e-15	7.89405e-15	1	1	0
BRAP	8315	broad.mit.edu	37	12	112082137	112082137	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr12:112082137G>A	ENST00000419234.4	-	12	1838	c.1645C>T	c.(1645-1647)Ctg>Ttg	p.L549L	BRAP_ENST00000327551.6_Silent_p.L519L|BRAP_ENST00000539060.1_Silent_p.L370L	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	549					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						TCGGCAGGCAGATGGTTGATC	0.587000													26	74					0	0	1	0	0
C17orf50	146853	broad.mit.edu	37	17	34091529	34091529	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr17:34091529C>G	ENST00000588628.1	+	3	482	c.439C>G	c.(439-441)Cct>Gct	p.P147A	C17orf50_ENST00000285023.4_Silent_p.L139L|C17orf50_ENST00000586491.1_Missense_Mutation_p.P110A			Q8WW18	CQ050_HUMAN	chromosome 17 open reading frame 50	0													Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCTGCGAGCTCCTCTTCTGCA	0.692000													3	14					0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70980527	70980527	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr8:70980527G>A	ENST00000276594.2	-	4	1051	c.850C>T	c.(850-852)Caa>Taa	p.Q284*		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	284	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			ACTTTACCTTGAAAGGGCCCA	0.483000													33	93					0	0	1	0	0
DNTTIP1	116092	broad.mit.edu	37	20	44424004	44424004	+	Silent	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr20:44424004G>C	ENST00000372622.3	+	4	362	c.294G>C	c.(292-294)ctG>ctC	p.L98L		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	98						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				AGGCAGCACTGAACGTGCGAG	0.522000													8	31					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065705	55065705	+	RNA	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:55065705G>A	ENST00000526016.1	-	0	3					NR_038174.2																						GATGGGACAGGTGAGTTCCCT	0.483000													5	109					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13395976	13395976	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr19:13395976C>T	ENST00000360228.5	-	21	3597	c.3598G>A	c.(3598-3600)Gag>Aag	p.E1200K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E1201K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1201					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	tccttcttctcttcctcttTT	0.537000													21	47					0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29274998	29274998	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:29274998G>C	ENST00000377160.2	+	1	596	c.532G>C	c.(532-534)Gat>Cat	p.D178H		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						ATTCTTCTGTGATGTTCCTCA	0.458000													25	136					0	0	1	0	0
CTNNA1	1495	broad.mit.edu	37	5	138160433	138160433	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr5:138160433C>T	ENST00000302763.7	+	6	893	c.803C>T	c.(802-804)tCa>tTa	p.S268L	CTNNA1_ENST00000355078.5_Missense_Mutation_p.S165L|CTNNA1_ENST00000518825.1_Missense_Mutation_p.S268L	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	268					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GACGATGCCTCACAGCACCAG	0.542000													39	137					0	0	1	0	0
ATMIN	23300	broad.mit.edu	37	16	81078057	81078057	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr16:81078057G>A	ENST00000566488.1	+	3	2449	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K	ATMIN_ENST00000299575.4_Missense_Mutation_p.E652K|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.E496K			O43313	ATMIN_HUMAN	ATM interactor	652					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						GACTCAAACTGAAGAGAGTGA	0.507000													24	71					0	0	1	0	0
ENG	2022	broad.mit.edu	37	9	130581079	130581079	+	Silent	SNP	G	G	C	rs45502392		TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr9:130581079G>C	ENST00000344849.3	-	11	1624	c.1344C>G	c.(1342-1344)ctC>ctG	p.L448L	ENG_ENST00000480266.1_Intron|RP11-228B15.4_ENST00000425991.1_RNA|RP11-228B15.4_ENST00000439298.1_RNA|ENG_ENST00000373203.4_Silent_p.L448L			P17813	EGLN_HUMAN	endoglin	448	Ser/Thr-rich.				artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GCTGGAAAGAGAGGCTGTCCA	0.637000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				78	304					0	0	1	0	0
SPATS1	221409	broad.mit.edu	37	6	44310929	44310929	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:44310929G>C	ENST00000288390.2	+	1	444	c.97G>C	c.(97-99)Gaa>Caa	p.E33Q	SPATS1_ENST00000323108.8_Missense_Mutation_p.E33Q|RP11-444E17.6_ENST00000505802.1_Intron			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	33										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAAGGTTCCAGAAAAAAGGGA	0.542000													14	82					0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5988383	5988383	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr9:5988383C>G	ENST00000399933.3	-	2	755	c.756G>C	c.(754-756)ttG>ttC	p.L252F	KIAA2026_ENST00000381461.2_Missense_Mutation_p.L252F	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	252										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTTCCTGTCTCAAAACTTGAA	0.383000													19	119					0	0	1	0	0
ZNF182	7569	broad.mit.edu	37	X	47836895	47836895	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chrX:47836895C>G	ENST00000396965.1	-	7	941	c.591G>C	c.(589-591)gaG>gaC	p.E197D	ZNF182_ENST00000305127.6_Missense_Mutation_p.E197D|ZNF182_ENST00000376943.3_Missense_Mutation_p.E178D	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						GATTTGTTTTCTCATACTCAG	0.338000													12	16					0	0	1	0	0
LMF2	91289	broad.mit.edu	37	22	50943513	50943513	+	Silent	SNP	C	C	T	rs142358655		TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr22:50943513C>T	ENST00000216080.5	-	9	1320	c.1152G>A	c.(1150-1152)gcG>gcA	p.A384A	LMF2_ENST00000474879.2_Silent_p.A409A|LMF2_ENST00000380796.3_Intron			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	409						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGGCCACGGTCGCAGTGCCCA	0.662000													30	70					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38957805	38957805	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:38957805G>A	ENST00000359357.3	+	86	12674	c.12420G>A	c.(12418-12420)aaG>aaA	p.K4140K	DNAH8_ENST00000441566.1_Silent_p.K4104K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCAGTGAGAAGATGTTTGAAC	0.383000													26	81					0	0	1	0	0
C12orf44	60673	broad.mit.edu	37	12	52467558	52467558	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr12:52467558G>C	ENST00000336854.4	+	3	602	c.124G>C	c.(124-126)Gag>Cag	p.E42Q		NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN	chromosome 12 open reading frame 44	42					autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		CTACAAGAAGGAGGGCACCTA	0.592000													13	46					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	987191	987191	+	Missense_Mutation	SNP	G	G	A	rs139415524	byFrequency	TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:987191G>A	ENST00000379370.2	+	33	5697	c.5647G>A	c.(5647-5649)Gag>Aag	p.E1883K		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1883	Laminin G-like 3.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CGCTGTGACCGAGAGGTAACG	0.652000													10	49					0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238984	48238984	+	Missense_Mutation	SNP	C	C	G	rs150005719	byFrequency	TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:48238984C>G	ENST00000309562.2	+	1	641	c.623C>G	c.(622-624)tCc>tGc	p.S208C		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S208F(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TCTGTCTTCTCCTTCCTCATC	0.483000													19	65					0	0	1	0	0
FSCN1	6624	broad.mit.edu	37	7	5633179	5633179	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr7:5633179G>A	ENST00000382361.3	+	1	726	c.612G>A	c.(610-612)gcG>gcA	p.A204A	FSCN1_ENST00000340250.6_Silent_p.A183A	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)	204					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		GCCTGGTGGCGCGCCCCGAGC	0.736000													6	22					0	0	1	0	0
HTR3D	200909	broad.mit.edu	37	3	183756605	183756605	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:183756605G>A	ENST00000382489.3	+	8	1207	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	HTR3D_ENST00000428798.2_Missense_Mutation_p.E353K|HTR3D_ENST00000334128.2_Missense_Mutation_p.E228K|HTR3D_ENST00000453435.1_Missense_Mutation_p.E182K	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	403						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGGGGGCTCAGAATGGACAAG	0.632000													14	61					0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96953300	96953300	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr14:96953300G>A	ENST00000267584.4	+	17	2084	c.2040G>A	c.(2038-2040)ctG>ctA	p.L680L		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	680	DPY-30.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CAATTCCCCTGAGAAACTATT	0.393000													17	45					0	0	1	0	0
TSN	7247	broad.mit.edu	37	2	122513376	122513376	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:122513376C>T	ENST00000389682.3	+	1	268	c.21C>T	c.(19-21)ttC>ttT	p.F7F	TSN_ENST00000536142.1_Silent_p.F7F|TSN_ENST00000498545.1_3'UTR	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin	7					DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				GCGAGATCTTCGTGGAGCTGC	0.607000													15	108					0	0	1	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283722	151283722	+	RNA	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chrX:151283722G>A	ENST00000509345.2	-	0	614																											GGTCAGGGGAGGTGCTTGGCC	0.542000													86	113					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50406908	50406908	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr20:50406908G>A	ENST00000217086.4	-	2	2225	c.2114C>T	c.(2113-2115)tCc>tTc	p.S705F	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	705					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACCTTGGAGGAGCTGCTGGG	0.592000													21	67					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165953881	165953881	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:165953881C>G	ENST00000360093.3	-	23	4611	c.4120G>C	c.(4120-4122)Gac>Cac	p.D1374H	SCN3A_ENST00000283254.7_Missense_Mutation_p.D1374H|SCN3A_ENST00000409101.3_Missense_Mutation_p.D1325H	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1374						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCACTAATGTCAAACATGTTA	0.423000													11	79					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270963	1270963	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr16:1270963C>T	ENST00000348261.5	+	35	7279	c.7031C>T	c.(7030-7032)gCc>gTc	p.A2344V	CACNA1H_ENST00000358590.4_Missense_Mutation_p.A2338V|CACNA1H_ENST00000565831.1_Missense_Mutation_p.A2338V	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2344					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCCACCCCTGCCCCAGGGGGT	0.716000													8	37					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150793933	150793933	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chrX:150793933C>T	ENST00000370357.4	+	8	805	c.560C>T	c.(559-561)tCa>tTa	p.S187L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	187						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTACACTTCAAAGGCAGTC	0.343000													229	80					0	0	1	0	0
HTRA3	94031	broad.mit.edu	37	4	8307722	8307722	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr4:8307722C>G	ENST00000307358.2	+	9	1425	c.1221C>G	c.(1219-1221)atC>atG	p.I407M		NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	407	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						ATGGTGACATCATCGTCAAGG	0.662000													42	125					0	0	1	0	0
MCM6	4175	broad.mit.edu	37	2	136627897	136627897	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:136627897A>G	ENST00000264156.2	-	3	349	c.289T>C	c.(289-291)Ttc>Ctc	p.F97L		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	97					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TCTTTGACGAATGTTTTCAAG	0.428000													68	197					0	0	1	0	0
HAGHL	84264	broad.mit.edu	37	16	777536	777536	+	Silent	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr16:777536C>G	ENST00000549114.1	+	2	330	c.27C>G	c.(25-27)ctC>ctG	p.L9L	HAGHL_ENST00000341413.4_Silent_p.L9L|HAGHL_ENST00000564545.1_Silent_p.L9L|HAGHL_ENST00000389703.3_Silent_p.L9L|HAGHL_ENST00000564537.1_Silent_p.L9L|HAGHL_ENST00000561546.1_Silent_p.L9L			Q6PII5	HAGHL_HUMAN	hydroxyacylglutathione hydrolase-like	9							hydrolase activity|metal ion binding			lung(3)	3		Hepatocellular(780;0.00335)				TCCCCGTGCTCGAGGACAACT	0.692000													9	21					0	0	1	0	0
ISL2	64843	broad.mit.edu	37	15	76632861	76632861	+	Silent	SNP	C	C	T	rs145440339		TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr15:76632861C>T	ENST00000290759.4	+	4	916	c.756C>T	c.(754-756)ctC>ctT	p.L252L	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	252						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						AATCCATTCTCATGAAGCAGC	0.632000													10	96					0	0	1	0	0
MANBAL	63905	broad.mit.edu	37	20	35929752	35929752	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr20:35929752G>C	ENST00000373605.3	+	3	898	c.86G>C	c.(85-87)gGa>gCa	p.G29A	MANBAL_ENST00000397152.3_Missense_Mutation_p.G29A|MANBAL_ENST00000397156.3_Missense_Mutation_p.G29A|MANBAL_ENST00000373606.3_Missense_Mutation_p.G29A|MANBAL_ENST00000397150.1_Missense_Mutation_p.G29A|MANBAL_ENST00000397151.1_Missense_Mutation_p.G29A			Q9NQG1	MANBL_HUMAN	mannosidase, beta A, lysosomal-like	29						integral to membrane				large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(115;0.00878)				CTCTTCCTGGGAGCCATCTTC	0.592000													17	123					0	0	1	0	0
KLK13	26085	broad.mit.edu	37	19	51563858	51563858	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr19:51563858G>C	ENST00000595793.1	-	2	113	c.71C>G	c.(70-72)tCc>tGc	p.S24C	KLK13_ENST00000595547.1_Missense_Mutation_p.S24C|KLK13_ENST00000596955.1_Missense_Mutation_p.S24C|KLK13_ENST00000335422.3_Intron	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	24					proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GAGAACCTTGGAAGACTCCTG	0.567000													5	131					0	0	1	0	0
THNSL2	55258	broad.mit.edu	37	2	88482315	88482315	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:88482315C>T	ENST00000324166.5	+	5	2591	c.900C>T	c.(898-900)ttC>ttT	p.F300F	THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000402102.1_Silent_p.F300F|THNSL2_ENST00000377254.3_Silent_p.F300F|THNSL2_ENST00000343544.4_Silent_p.F300F|THNSL2_ENST00000358591.2_Silent_p.F300F	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	300					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AGGGAGACTTCTCTCTCTCTG	0.547000													41	72					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33704998	33704998	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:33704998C>G	ENST00000399362.4	-	7	1007	c.654G>C	c.(652-654)atG>atC	p.M218I	CLASP2_ENST00000468888.2_Missense_Mutation_p.M218I|CLASP2_ENST00000359576.5_Missense_Mutation_p.M218I|CLASP2_ENST00000307312.7_5'UTR	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	218										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TGGCAAATATCATTTCTAATC	0.294000													14	39					0	0	1	0	0
LONRF2	164832	broad.mit.edu	37	2	100906764	100906764	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:100906764C>G	ENST00000393437.3	-	10	2515	c.1876G>C	c.(1876-1878)Gat>Cat	p.D626H	LONRF2_ENST00000409647.1_Missense_Mutation_p.D383H	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	626	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TTATAGCCATCTCTGTGGCGG	0.468000													14	62					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9215046	9215046	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:9215046G>C	ENST00000328194.3	-	5	1452	c.1132C>G	c.(1132-1134)Caa>Gaa	p.Q378E	DENND5A_ENST00000530044.1_Missense_Mutation_p.Q378E	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	378	DENN.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTCACCTCTTGAGGCAGCTCC	0.517000													11	74					0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32873651	32873651	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr19:32873651C>G	ENST00000311921.4	+	6	2716	c.2524C>G	c.(2524-2526)Caa>Gaa	p.Q842E	ZNF507_ENST00000355898.5_Missense_Mutation_p.Q842E|ZNF507_ENST00000544431.1_Missense_Mutation_p.Q846E	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TGGAAAGACTCAATTAAAGAG	0.443000													55	75					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101748788	101748788	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr5:101748788G>A	ENST00000506729.1	-	9	1703	c.1532C>T	c.(1531-1533)tCa>tTa	p.S511L	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.S511L|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.S258L|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.S449L|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.S258L			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	511	Kazal-like.					integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AGAATAAATTGAAGATGAGCA	0.333000													7	36					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7763687	7763687	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr10:7763687G>A	ENST00000358415.4	+	8	980	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	ITIH2_ENST00000379587.4_Missense_Mutation_p.E261K	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	272					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GGTAGATGGGGAACTGGTGGT	0.552000													117	191					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14105966	14105966	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:14105966C>G	ENST00000235372.7	+	8	2532	c.1676C>G	c.(1675-1677)tCt>tGt	p.S559C	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.S358C|PRDM2_ENST00000343137.4_Missense_Mutation_p.S358C|PRDM2_ENST00000311066.5_Missense_Mutation_p.S559C	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	559						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ATGGACATTTCTAGCAATATC	0.433000													6	56					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089002	86089002	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr14:86089002C>T	ENST00000330753.4	+	2	1911	c.1144C>T	c.(1144-1146)Cag>Tag	p.Q382*	FLRT2_ENST00000554746.1_Nonsense_Mutation_p.Q382*	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	382					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TCCGACCACTCAGCCTCCCAC	0.557000													47	180					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108378002	108378002	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr10:108378002G>T	ENST00000263054.6	-	21	2832	c.2825C>A	c.(2824-2826)tCc>tAc	p.S942Y	SORCS1_ENST00000369698.1_Missense_Mutation_p.S477Y|SORCS1_ENST00000344440.6_Missense_Mutation_p.S942Y|SORCS1_ENST00000478809.2_5'UTR	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	942						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AAATCTGAAGGATATGCTTCC	0.458000													25	46					2.79863e-10	2.97246e-10	1	1	0
ZSWIM3	140831	broad.mit.edu	37	20	44506197	44506197	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr20:44506197G>A	ENST00000255152.2	+	2	1209	c.1000G>A	c.(1000-1002)Gcc>Acc	p.A334T	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.A328T	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	334							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				CATGAAGGAAGCCCTGCGGGA	0.512000													30	122					0	0	1	0	0
RALY	22913	broad.mit.edu	37	20	32666323	32666323	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr20:32666323G>C	ENST00000375114.3	+	8	1419	c.841G>C	c.(841-843)Gac>Cac	p.D281H	RALY_ENST00000246194.3_Missense_Mutation_p.D297H	NM_007367.3	NP_031393.2	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	297						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						ACACAGCCAGGACACAGACGC	0.542000													19	85					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77400853	77400853	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr9:77400853C>T	ENST00000451710.3	-	21	3093	c.2856G>A	c.(2854-2856)cgG>cgA	p.R952R	TRPM6_ENST00000449912.2_Silent_p.R947R|TRPM6_ENST00000360774.1_Silent_p.R952R|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.R947R|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Silent_p.R952R			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	952					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGTCCAGGAGCCGTGAGAACC	0.453000													59	245					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9923342	9923342	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr16:9923342G>A	ENST00000396573.2	-	10	2254	c.1945C>T	c.(1945-1947)Ctg>Ttg	p.L649L	GRIN2A_ENST00000404927.2_Silent_p.L649L|GRIN2A_ENST00000330684.3_Silent_p.L649L|GRIN2A_ENST00000562109.1_Silent_p.L649L|GRIN2A_ENST00000396575.2_Silent_p.L649L|GRIN2A_ENST00000535259.1_Silent_p.L492L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	649					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAGGCAGCCAGATTGGCTGTG	0.512000													25	54					0	0	1	0	0
WNT8A	7478	broad.mit.edu	37	5	137426381	137426381	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr5:137426381G>A	ENST00000506684.1	+	5	965	c.729G>A	c.(727-729)ctG>ctA	p.L243L	WNT8A_ENST00000398754.1_Silent_p.L225L			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	225					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGCGGCAGCTGAGAGCTGGGA	0.552000													22	67					0	0	1	0	0
SLC29A2	3177	broad.mit.edu	37	11	66133976	66133976	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:66133976C>G	ENST00000357440.2	-	8	1021	c.793G>C	c.(793-795)Gag>Cag	p.E265Q	SLC29A2_ENST00000546034.1_Missense_Mutation_p.E265Q|SLC29A2_ENST00000311161.7_Intron|SLC29A2_ENST00000544554.1_Missense_Mutation_p.E265Q	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	265					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						GGCTCCTTCTCCAGGTCAAGA	0.567000													21	41					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120572126	120572126	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr12:120572126G>C	ENST00000300648.6	-	53	7298	c.7286C>G	c.(7285-7287)tCa>tGa	p.S2429*		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2429					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGCAGGAGTGAGACGATGTT	0.572000													25	74					0	0	1	0	0
MFN1	55669	broad.mit.edu	37	3	179095136	179095136	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:179095136C>T	ENST00000471841.1	+	12	1355	c.1229C>T	c.(1228-1230)tCa>tTa	p.S410L	MFN1_ENST00000263969.5_Missense_Mutation_p.S410L|MFN1_ENST00000280653.7_Missense_Mutation_p.S410L	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	410					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TTTCAGGTTTCATGTGCAATG	0.239000													29	58					0	0	1	0	0
ATP6V1A	523	broad.mit.edu	37	3	113513806	113513806	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:113513806G>C	ENST00000273398.3	+	9	1184	c.1076G>C	c.(1075-1077)aGa>aCa	p.R359T	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.R326T	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	359					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAGGCCCTTAGAGAAATCTCT	0.458000													33	136					0	0	1	0	0
LINGO1	84894	broad.mit.edu	37	15	77907517	77907517	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr15:77907517C>T	ENST00000355300.6	-	2	906	c.732G>A	c.(730-732)ttG>ttA	p.L244L	LINGO1_ENST00000561030.1_Silent_p.L238L	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	244					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GGGAGATCTCCAAGACCTTGA	0.582000													26	73					0	0	1	0	0
IER5	51278	broad.mit.edu	37	1	181058384	181058384	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:181058384G>T	ENST00000367577.4	+	1	747	c.346G>T	c.(346-348)Gag>Tag	p.E116*		NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN	immediate early response 5	116										lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						GGTAGGGGACGAGGTGCCGGT	0.751000													28	33					3.86903e-22	4.25925e-22	1	1	0
TTC21B	79809	broad.mit.edu	37	2	166737281	166737281	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:166737281C>G	ENST00000243344.7	-	27	3850	c.3713G>C	c.(3712-3714)gGa>gCa	p.G1238A	TTC21B_ENST00000536175.1_Missense_Mutation_p.G176A	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1238						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CATAATGTATCCCATATATTC	0.363000													8	21					0	0	1	0	0
RING1	6015	broad.mit.edu	37	6	33179769	33179769	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:33179769G>T	ENST00000374656.4	+	6	1317	c.1109G>T	c.(1108-1110)gGg>gTg	p.G370V	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	370	Gly-rich.|Necessary for interaction with CBX2 (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CCTGGAGGCGGGGCGTTCACG	0.612000													9	13					1.12685e-05	1.15847e-05	1	1	0
ABCA12	26154	broad.mit.edu	37	2	215852479	215852479	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:215852479G>A	ENST00000272895.7	-	27	4087	c.3868C>T	c.(3868-3870)Ctt>Ttt	p.L1290F	ABCA12_ENST00000389661.4_Missense_Mutation_p.L972F	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1290					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAGGAAGGAAGAATTGGAAAA	0.423000													11	26					0	0	1	0	0
STAG3L4	64940	broad.mit.edu	37	7	66767828	66767828	+	RNA	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr7:66767828C>T	ENST00000416602.2	+	0	221					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				CTCTAACGTGCAAGGCAGGAG	0.697000													4	16					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511899	61511899	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr20:61511899C>G	ENST00000266070.4	-	16	5734	c.5409G>C	c.(5407-5409)caG>caC	p.Q1803H	DIDO1_ENST00000395343.1_Missense_Mutation_p.Q1803H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1803	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.Q1803H(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGGCCCCTTCTGGGCTCCGA	0.617000													62	151					0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3765742	3765742	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:3765742C>A	ENST00000324932.7	-	12	1825	c.1405G>T	c.(1405-1407)Gta>Tta	p.V469L	NUP98_ENST00000397007.4_Missense_Mutation_p.V486L|NUP98_ENST00000397004.4_Missense_Mutation_p.V469L|NUP98_ENST00000355260.3_Missense_Mutation_p.V469L|NUP98_ENST00000359171.4_Missense_Mutation_p.V469L	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	486	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CACTTACCTACTGGGGCCTGG	0.493000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								19	59					0.000132079	0.000133906	1	1	0
PPIG	9360	broad.mit.edu	37	2	170463626	170463626	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:170463626G>A	ENST00000260970.3	+	6	477	c.257G>A	c.(256-258)gGa>gAa	p.G86E	PPIG_ENST00000448752.2_Missense_Mutation_p.G86E|PPIG_ENST00000462903.1_Missense_Mutation_p.G86E|PPIG_ENST00000409714.3_Intron	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	86	PPIase cyclophilin-type.				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AATGGACGAGGAGGGGAATCT	0.274000													40	190					0	0	1	0	0
C3orf70	285382	broad.mit.edu	37	3	184870595	184870595	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:184870595G>A	ENST00000335012.2	-	1	207	c.17C>T	c.(16-18)tCg>tTg	p.S6L		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	6								p.S6L(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CGACGCCGGCGAGGCCGCCGC	0.716000													8	34					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150642488	150642488	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr7:150642488G>A	ENST00000392968.2	-	13	4277	c.3157C>T	c.(3157-3159)Ccc>Tcc	p.P1053S	KCNH2_ENST00000330883.4_Missense_Mutation_p.P809S|KCNH2_ENST00000262186.5_Missense_Mutation_p.P1149S			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	1149					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CTGTGCAGGGGCTGGGAGGTG	0.716000													3	10					0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101476879	101476879	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:101476879G>T	ENST00000341893.3	+	9	2181	c.1429G>T	c.(1429-1431)Gag>Tag	p.E477*	CEP97_ENST00000327230.4_Nonsense_Mutation_p.E477*|CEP97_ENST00000494050.1_Nonsense_Mutation_p.E418*			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	477	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						AGAGGTAAATGAGAAAGCTGG	0.403000													27	102					7.92952e-12	8.47468e-12	1	1	0
SPATA5	166378	broad.mit.edu	37	4	124177206	124177206	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr4:124177206C>G	ENST00000274008.4	+	15	2445	c.2376C>G	c.(2374-2376)atC>atG	p.I792M		NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						ATAGAATCATCTATGTGCCTT	0.418000													18	39					0	0	1	0	0
TRIM27	5987	broad.mit.edu	37	6	28875040	28875040	+	Splice_Site	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:28875040C>T	ENST00000377199.3	-	7	1276		c.e7-1		TRIM27_ENST00000377194.3_Splice_Site	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27						cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TCTCTTAATTCTGAAAGAATA	0.378000			T	RET	papillary thyroid								17	39					0	0	1	0	0
CLDN4	1364	broad.mit.edu	37	7	73245564	73245564	+	Silent	SNP	C	C	T	rs146691861	byFrequency	TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr7:73245564C>T	ENST00000435050.1	+	2	2713	c.33C>T	c.(31-33)atC>atT	p.I11I	CLDN4_ENST00000431918.1_Silent_p.I11I|CLDN4_ENST00000340958.2_Silent_p.I11I			O14493	CLD4_HUMAN	claudin 4	11					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				TAATGGGCATCGCGCTGGCCG	0.647000													27	124					0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143556841	143556841	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr8:143556841G>A	ENST00000517894.1	+	3	1685	c.791G>A	c.(790-792)tGg>tAg	p.W264*	BAI1_ENST00000323289.5_Nonsense_Mutation_p.W264*			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	264	TSP type-1 1.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCAGGCGGCTGGAAGCTGTGG	0.751000													6	7					0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124592374	124592374	+	Silent	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:124592374G>C	ENST00000296181.4	-	2	371	c.75C>G	c.(73-75)ctC>ctG	p.L25L		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	25					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TGCATATGTTGAGACCTTTAA	0.438000													40	393					0	0	1	0	0
SPDL1	54908	broad.mit.edu	37	5	169028503	169028503	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr5:169028503C>G	ENST00000265295.4	+	11	1823	c.1544C>G	c.(1543-1545)tCt>tGt	p.S515C		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		GTCAGTCTCTCTCCTCACAAA	0.428000													20	80					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23812076	23812076	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr15:23812076G>C	ENST00000314520.3	+	1	1623	c.1147G>C	c.(1147-1149)Gag>Cag	p.E383Q	MKRN3_ENST00000564592.1_Missense_Mutation_p.E143Q|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_3'UTR	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	383						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGAGGAGGAAGAGAAGCAGAA	0.507000													17	114					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24521601	24521601	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:24521601C>G	ENST00000355123.4	-	13	1870	c.1427G>C	c.(1426-1428)aGa>aCa	p.R476T	ITSN2_ENST00000406921.3_Missense_Mutation_p.R476T|ITSN2_ENST00000361999.3_Missense_Mutation_p.R476T	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	476					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTTGTTCTCTATTCTTTTG	0.373000													22	67					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118373371	118373371	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:118373371C>G	ENST00000534358.1	+	27	6787	c.6764C>G	c.(6763-6765)tCa>tGa	p.S2255*	KMT2A_ENST00000389506.5_Nonsense_Mutation_p.S2252*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.S2214*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CCACTGAATTCAAGTACTAGT	0.423000													20	111					0	0	1	0	0
FBXL2	25827	broad.mit.edu	37	3	33414761	33414761	+	Silent	SNP	T	T	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:33414761T>C	ENST00000484457.1	+	7	460	c.369T>C	c.(367-369)taT>taC	p.Y123Y	FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538181.1_Silent_p.Y39Y|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000538892.1_Silent_p.Y123Y|FBXL2_ENST00000507198.1_Silent_p.Y123Y	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	123					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GCACGTGTTATAGCCTTAGCA	0.448000													93	260					0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6290917	6290917	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:6290917G>A	ENST00000525462.1	+	2	173	c.170G>A	c.(169-171)aGa>aAa	p.R57K	CCKBR_ENST00000334619.2_Missense_Mutation_p.R57K|CCKBR_ENST00000531712.1_3'UTR|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000525014.1_Missense_Mutation_p.R57K			P32239	GASR_HUMAN	cholecystokinin B receptor	57					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CTGGCCATTAGAATCACTCTT	0.527000													30	100					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323532	31323532	+	Silent	SNP	T	T	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr18:31323532T>G	ENST00000269197.5	+	12	3720	c.3720T>G	c.(3718-3720)gtT>gtG	p.V1240V		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1240	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTGTATCTGTTTGCAGCACTG	0.378000													12	24					0	0	1	0	0
MST1L	11223	broad.mit.edu	37	1	17084519	17084519	+	RNA	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:17084519C>T	ENST00000455405.2	-	0	370																											AGGCCTGGCTCTCCATGTTGT	0.577000													8	116					0	0	1	0	0
HIST1H1D	3007	broad.mit.edu	37	6	26235027	26235027	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:26235027G>A	ENST00000244534.5	-	1	189	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	45	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTGCCTTGGTGATAAGCTCAG	0.542000													33	151					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156621324	156621324	+	Silent	SNP	C	C	T	rs150989682	byFrequency	TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:156621324C>T	ENST00000329117.5	+	7	1476	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Silent_p.I380I	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican						cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	p.I380M(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TAGAGGCTATCGTCACAGTGA	0.587000													7	92					0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24227093	24227093	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chrX:24227093C>T	ENST00000379177.1	+	10	1597	c.1170C>T	c.(1168-1170)ctC>ctT	p.L390L	ZFX_ENST00000459724.1_3'UTR|ZFX_ENST00000540034.1_Silent_p.L429L|ZFX_ENST00000539115.1_Silent_p.L161L|ZFX_ENST00000304543.5_Silent_p.L390L|ZFX_ENST00000338565.3_Silent_p.L340L|ZFX_ENST00000379188.3_Silent_p.L390L	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CTGCTGGCCTCGGCAGACTGG	0.468000													25	22					0	0	1	0	0
OPA3	80207	broad.mit.edu	37	19	46057108	46057108	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr19:46057108G>C	ENST00000263275.4	-	2	258	c.204C>G	c.(202-204)atC>atG	p.I68M	OPA3_ENST00000544371.1_Missense_Mutation_p.I15M|OPA3_ENST00000323060.3_Intron	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	68					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		TCAGCGGCTTGATGACCGTGC	0.652000													35	34					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278727	152278727	+	Missense_Mutation	SNP	C	C	G	rs148926091		TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:152278727C>G	ENST00000368799.1	-	3	8670	c.8635G>C	c.(8635-8637)Gag>Cag	p.E2879Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2879	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGACCCCTCTGATTGTCCC	0.577000									Ichthyosis				66	819					0	0	1	0	0
C11orf57	55216	broad.mit.edu	37	11	111948970	111948970	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:111948970G>A	ENST00000532163.1	+	3	780	c.14G>A	c.(13-15)aGa>aAa	p.R5K	C11orf57_ENST00000420986.2_Missense_Mutation_p.R34K|C11orf57_ENST00000530104.1_Missense_Mutation_p.R34K|C11orf57_ENST00000280352.9_Missense_Mutation_p.R34K|C11orf57_ENST00000393047.3_Missense_Mutation_p.R34K			Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	34										autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		TGGAAAATAAGAGAACTGGAA	0.328000													8	29					0	0	1	0	0
SSPN	8082	broad.mit.edu	37	12	26383783	26383783	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr12:26383783C>T	ENST00000242729.2	+	3	683	c.506C>T	c.(505-507)tCg>tTg	p.S169L	SSPN_ENST00000540266.1_Missense_Mutation_p.S66L|RP11-283G6.5_ENST00000537525.1_RNA|SSPN_ENST00000422622.2_Missense_Mutation_p.S66L|SSPN_ENST00000535504.1_Intron|RP11-283G6.4_ENST00000540392.1_RNA|RP11-283G6.5_ENST00000540625.1_RNA	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	169					cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					CTGCCCTCCTCGGAGCCGCTC	0.537000													24	102					0	0	1	0	0
AWAT1	158833	broad.mit.edu	37	X	69459702	69459702	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chrX:69459702C>G	ENST00000374521.3	+	6	791	c.750C>G	c.(748-750)ttC>ttG	p.F250L		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	250					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						TCTTTGGTTTCTACTGTTGTG	0.502000													27	29					0	0	1	0	0
ZHX3	23051	broad.mit.edu	37	20	39832452	39832452	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr20:39832452C>T	ENST00000309060.3	-	4	1520	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	ZHX3_ENST00000432768.2_Missense_Mutation_p.E369K|ZHX3_ENST00000544979.2_Missense_Mutation_p.E369K|ZHX3_ENST00000540170.1_Missense_Mutation_p.E369K|ZHX3_ENST00000559234.1_Missense_Mutation_p.E369K|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.E369K|ZHX3_ENST00000558993.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	369	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CGGGCATCCTCAATCTCCTCA	0.507000													20	102					0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98110271	98110271	+	Silent	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:98110271C>G	ENST00000383695.1	+	1	762	c.762C>G	c.(760-762)ctC>ctG	p.L254L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						ATTCCCTTCTCTTCATGTATG	0.343000													29	107					0	0	1	0	0
CALD1	800	broad.mit.edu	37	7	134617874	134617874	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr7:134617874G>A	ENST00000361388.2	+	5	820	c.354G>A	c.(352-354)caG>caA	p.Q118Q	CALD1_ENST00000417172.1_Silent_p.Q118Q|CALD1_ENST00000393118.2_Silent_p.Q112Q|CALD1_ENST00000361901.2_Silent_p.Q118Q|CALD1_ENST00000543443.1_Silent_p.Q123Q|CALD1_ENST00000361675.2_Silent_p.Q118Q|CALD1_ENST00000422748.1_Silent_p.Q118Q|CALD1_ENST00000495522.1_Silent_p.Q112Q|CALD1_ENST00000424922.1_Silent_p.Q112Q	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	331	Myosin and calmodulin-binding (By similarity).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						TGGAGCGGCAGAAGGAGTTCG	0.522000													17	63					0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74442386	74442386	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr4:74442386C>T	ENST00000307439.5	-	9	1078	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	RASSF6_ENST00000342081.3_Missense_Mutation_p.E294K|RASSF6_ENST00000395777.2_Missense_Mutation_p.E228K|RASSF6_ENST00000335049.5_Missense_Mutation_p.E250K	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	294	Ras-associating.				apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GCATTCTTTTCAGAAGGTCCC	0.423000													25	228					0	0	1	0	0
SMC5	23137	broad.mit.edu	37	9	72962874	72962874	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr9:72962874G>C	ENST00000361138.5	+	22	2867	c.2809G>C	c.(2809-2811)Gaa>Caa	p.E937Q	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	937					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						AGAGCTGGTAGAAAAAATTAA	0.299000													5	29					0	0	1	0	0
NKPD1	284353	broad.mit.edu	37	19	45656253	45656253	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr19:45656253G>C	ENST00000317951.4	-	4	1441	c.1442C>G	c.(1441-1443)tCc>tGc	p.S481C	NKPD1_ENST00000438936.2_Missense_Mutation_p.S259C|NKPD1_ENST00000429338.1_Missense_Mutation_p.S259C|NKPD1_ENST00000589776.1_Missense_Mutation_p.S259C	NM_198478.3	NP_940880.3			NTPase, KAP family P-loop domain containing 1											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GTGGCTGTCGGACAGCAGCGT	0.677000													14	7					0	0	1	0	0
NSUN5P1	155400	broad.mit.edu	37	7	75046064	75046064	+	RNA	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr7:75046064C>G	ENST00000393633.2	+	0	4791																				large_intestine(1)|lung(1)	2						AGAACGTACTCTACGATAGAT	0.393000													8	26					0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28253373	28253373	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:28253373G>C	ENST00000405948.2	+	3	862	c.442G>C	c.(442-444)Gaa>Caa	p.E148Q	PGBD1_ENST00000259883.3_Missense_Mutation_p.E148Q	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	148					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AATGGTGGCAGAATATCAAGG	0.498000													24	85					0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94528812	94528812	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr14:94528812C>T	ENST00000330836.5	-	3	1005	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	DDX24_ENST00000544005.1_Missense_Mutation_p.E42K|DDX24_ENST00000555054.1_Missense_Mutation_p.E249K	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	292	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GACTCAGCTTCAGCCTTGCCT	0.552000													25	91					0	0	1	0	0
TRMT2A	27037	broad.mit.edu	37	22	20100531	20100531	+	Splice_Site	SNP	C	C	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr22:20100531C>A	ENST00000252136.7	-	11	1938		c.e11-1		TRMT2A_ENST00000404751.3_Splice_Site|TRMT2A_ENST00000403707.3_Splice_Site|TRMT2A_ENST00000439169.2_Splice_Site	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)						RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(2)|endometrium(2)|lung(5)	9						ACCTTGGAATCTGAGGAGGCA	0.582000													27	66					1.17739e-12	1.26625e-12	1	1	0
RCC1	1104	broad.mit.edu	37	1	28858803	28858803	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:28858803G>T	ENST00000373833.6	+	7	667	c.382G>T	c.(382-384)Gac>Tac	p.D128Y	RCC1_ENST00000373831.3_Missense_Mutation_p.D159Y|RCC1_ENST00000373832.1_Missense_Mutation_p.D128Y|RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000398958.2_Missense_Mutation_p.D128Y			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	128					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GTCAGCAGGAGACAGTCACAC	0.587000													9	45					0.000274275	0.000276975	1	1	0
TTC25	83538	broad.mit.edu	37	17	40091573	40091573	+	RNA	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr17:40091573C>T	ENST00000591658.1	+	0	286							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				GCTGAGGCTTCGCTCCAGAGT	0.517000													13	32					0	0	1	0	0
TOMM5	401505	broad.mit.edu	37	9	37592509	37592509	+	Silent	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr9:37592509G>C	ENST00000377773.5	-	1	85	c.21C>G	c.(19-21)ctC>ctG	p.L7L	TOMM5_ENST00000401811.3_Silent_p.L7L|TOMM5_ENST00000544379.1_Silent_p.L7L|TOMM5_ENST00000321301.6_Silent_p.L7L|RP11-613M10.9_ENST00000540557.1_Intron	NM_001134484.1|NM_001134485.1	NP_001127956.1|NP_001127957.1	Q8N4H5	TOM5_HUMAN	translocase of outer mitochondrial membrane 5 homolog (yeast)	7						integral to membrane|mitochondrial outer membrane translocase complex											GCTTCGGCGCGAGGCCCTCAA	0.632000													18	72					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169565230	169565230	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:169565230G>A	ENST00000263686.6	-	12	2071	c.2034C>T	c.(2032-2034)ctC>ctT	p.L678L	SELP_ENST00000367793.2_Silent_p.L616L|SELP_ENST00000367786.2_Silent_p.L616L|SELP_ENST00000367788.2_Silent_p.L616L|SELP_ENST00000367792.2_Silent_p.L494L|SELP_ENST00000367794.2_Silent_p.L616L|SELP_ENST00000458599.2_Silent_p.L494L|SELP_ENST00000367791.2_Silent_p.L492L	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	678	Sushi 8.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TGTCTCCTATGAGTGTGAATC	0.502000													292	428					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66696554	66696554	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr12:66696554C>T	ENST00000247815.4	+	1	230	c.171C>T	c.(169-171)ctC>ctT	p.L57L		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	57					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CTGGCAGCCTCCCCGGGTGCC	0.637000													4	27					0	0	1	0	0
NCR2	9436	broad.mit.edu	37	6	41304008	41304008	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:41304008C>G	ENST00000373083.4	+	2	458	c.236C>G	c.(235-237)tCt>tGt	p.S79C	NCR2_ENST00000373086.3_Missense_Mutation_p.S79C|NCR2_ENST00000373089.5_Missense_Mutation_p.S79C	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	79	Ig-like.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					GCTTGGACCTCTCGATTCACA	0.517000													17	69					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526020	176526020	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:176526020C>T	ENST00000367662.3	+	2	1726	c.562C>T	c.(562-564)Caa>Taa	p.Q188*	PAPPA2_ENST00000367661.3_Nonsense_Mutation_p.Q188*	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	188					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACCAGAGACCCAAAGGAGGGG	0.587000													71	178					0	0	1	0	0
DPH1	1801	broad.mit.edu	37	17	1945090	1945090	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr17:1945090C>G	ENST00000263083.6	+	12	1316	c.1271C>G	c.(1270-1272)tCg>tGg	p.S424W	DPH1_ENST00000570477.1_Missense_Mutation_p.S344W	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	424					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CGTCCCCCTTCGGCCGTGGCT	0.692000													10	19					0	0	1	0	0
MBIP	51562	broad.mit.edu	37	14	36781210	36781210	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr14:36781210C>T	ENST00000416007.4	-	5	679	c.592G>A	c.(592-594)Gat>Aat	p.D198N	MBIP_ENST00000603913.1_5'UTR|MBIP_ENST00000359527.7_Missense_Mutation_p.D198N|MBIP_ENST00000318473.7_Missense_Mutation_p.D198N	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	198	Interaction with MAP3K12.				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		AAAATCGCATCAGTTCTTGCA	0.313000													19	58					0	0	1	0	0
TYROBP	7305	broad.mit.edu	37	19	36398362	36398362	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr19:36398362C>T	ENST00000585901.2	-	3	233	c.215G>A	c.(214-216)cGa>cAa	p.R72Q	TYROBP_ENST00000424586.3_Missense_Mutation_p.R61Q|TYROBP_ENST00000544690.2_Missense_Mutation_p.R61Q|TYROBP_ENST00000262629.4_Missense_Mutation_p.R72Q|TYROBP_ENST00000589517.1_Missense_Mutation_p.R72Q			O43914	TYOBP_HUMAN	TYRO protein tyrosine kinase binding protein	72					axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response	integral to plasma membrane|intracellular	identical protein binding|receptor signaling protein activity			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGCAGCCCCTCGCCCCCGAGG	0.652000													10	173					0	0	1	0	0
GTF3C3	9330	broad.mit.edu	37	2	197636610	197636610	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:197636610G>C	ENST00000263956.3	-	15	2211	c.2122C>G	c.(2122-2124)Caa>Gaa	p.Q708E		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	708						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ATGGTAACTTGATTGAAAATG	0.393000													18	79					0	0	1	0	0
CPOX	1371	broad.mit.edu	37	3	98304436	98304436	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:98304436C>T	ENST00000264193.2	-	5	1239	c.1021G>A	c.(1021-1023)Gat>Aat	p.D341N		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	341						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GAGTCAAGATCATCAAAAAAG	0.493000													67	151					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140752335	140752335	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr5:140752335G>T	ENST00000576222.1	+	1	2505	c.2374G>T	c.(2374-2376)Gac>Tac	p.D792Y	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAAGTAATGACAATCCAGA	0.343000													3	29					0.115264	0.115489	1	1	0
TNFRSF21	27242	broad.mit.edu	37	6	47254304	47254304	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:47254304G>T	ENST00000296861.2	-	2	517	c.124C>A	c.(124-126)Cag>Aag	p.Q42K		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	42					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TGTTCTGGCTGAGCTGTGGTG	0.507000													13	50					3.27435e-08	3.40029e-08	1	1	0
ATP6AP2	10159	broad.mit.edu	37	X	40448292	40448292	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chrX:40448292G>A	ENST00000378438.4	+	2	250	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	ATP6AP2_ENST00000535539.1_Missense_Mutation_p.R31Q|ATP6AP2_ENST00000535777.1_Missense_Mutation_p.R31Q|ATP6AP2_ENST00000486558.1_Intron|ATP6AP2_ENST00000544975.1_Intron	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	31					angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity			endometrium(1)|large_intestine(1)|lung(2)	4						GTTGTTTTCCGAAATGGAAAT	0.373000													21	25					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141108408	141108408	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:141108408C>G	ENST00000389484.3	-	77	12821	c.11850G>C	c.(11848-11850)agG>agC	p.R3950S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3950					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGCCATGGATCCTTTTGTAGA	0.343000										TSP Lung(27;0.18)			7	40					0	0	1	0	0
IL1RN	3557	broad.mit.edu	37	2	113890401	113890401	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:113890401G>C	ENST00000361779.3	+	6	730	c.385G>C	c.(385-387)Gac>Cac	p.D129H	IL1RN_ENST00000409930.3_Missense_Mutation_p.D163H|IL1RN_ENST00000259206.5_Missense_Mutation_p.D166H|IL1RN_ENST00000409052.1_Missense_Mutation_p.D129H|IL1RN_ENST00000354115.2_Missense_Mutation_p.D145H	NM_173843.2	NP_776215.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	163					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	CAATATGCCTGACGAAGGCGT	0.587000									Lichen Sclerosis et Atrophicus, Familial Clustering of				45	161					0	0	1	0	0
IGHV3-72	28410	broad.mit.edu	37	14	107199145	107199145	+	RNA	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr14:107199145G>A	ENST00000433072.2	-	0	223																											AGTGGTCACTGAAGGTGAATC	0.587000													43	191					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48312163	48312163	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr7:48312163C>G	ENST00000435803.1	+	17	2924	c.2900C>G	c.(2899-2901)tCa>tGa	p.S967*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	967					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATTTATTCTTCATTTTACCGA	0.308000													18	47					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64604481	64604481	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:64604481C>G	ENST00000342711.5	-	10	1215	c.1216G>C	c.(1216-1218)Gag>Cag	p.E406Q		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	406	AGC-kinase C-terminal.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GAGCTGCTCTCAGGACTGTGA	0.577000													20	89					0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83222716	83222716	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr15:83222716C>G	ENST00000563800.1	-	6	2691	c.966G>C	c.(964-966)tgG>tgC	p.W322C	CPEB1_ENST00000450751.2_Missense_Mutation_p.W220C|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.G30A|CPEB1_ENST00000423133.2_Missense_Mutation_p.W220C|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Missense_Mutation_p.W220C|CPEB1_ENST00000398592.2_Missense_Mutation_p.W69C|CPEB1_ENST00000261723.6_Missense_Mutation_p.W298C|CPEB1_ENST00000398591.2_Missense_Mutation_p.W220C|CPEB1_ENST00000564522.1_Missense_Mutation_p.W220C|CPEB1_ENST00000568128.1_Missense_Mutation_p.W295C|CPEB1_ENST00000562019.1_Missense_Mutation_p.W295C			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	295	RRM 1.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCTGGCCACTCCAGGTACAGG	0.493000													6	74					0	0	1	0	0
HNRNPH1	3187	broad.mit.edu	37	5	179044817	179044817	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr5:179044817C>T	ENST00000356731.5	-	7	2439	c.904G>A	c.(904-906)Gag>Aag	p.E302K	HNRNPH1_ENST00000393432.4_Missense_Mutation_p.E302K|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.E302K|HNRNPH1_ENST00000510411.1_Missense_Mutation_p.E302K|HNRNPH1_ENST00000511300.2_Missense_Mutation_p.E32K|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.E302K			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	302	2 X 16 AA Gly-rich approximate repeats.|RRM 3.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						ATGTCATTCTCAGTAGCTCTG	0.413000													13	34					0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148802642	148802642	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr7:148802642G>A	ENST00000378061.2	-	4	453	c.321C>T	c.(319-321)ccC>ccT	p.P107P		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	107					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTTTTGTCCTGGGAGTTCCTT	0.393000													14	46					0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66358413	66358413	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:66358413C>A	ENST00000333861.3	-	1	2141	c.2074G>T	c.(2074-2076)Gag>Tag	p.E692*		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	692										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TCAGGGACCTCAAGCACAGAC	0.562000													25	102					1.74197e-06	1.80168e-06	1	1	0
THRSP	7069	broad.mit.edu	37	11	77775095	77775095	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:77775095C>T	ENST00000281030.2	+	1	189	c.168C>T	c.(166-168)ctC>ctT	p.L56L	NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	thyroid hormone responsive	56					lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			CCCCTGATCTCTACACCTACT	0.637000													43	149					0	0	1	0	0
MAPK10	5602	broad.mit.edu	37	4	86989066	86989066	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr4:86989066G>A	ENST00000395169.3	-	10	1451	c.731C>T	c.(730-732)cCa>cTa	p.P244L	MAPK10_ENST00000395166.1_Missense_Mutation_p.P244L|MAPK10_ENST00000395157.3_Missense_Mutation_p.P137L|MAPK10_ENST00000395160.3_Missense_Mutation_p.P137L|MAPK10_ENST00000359221.3_Missense_Mutation_p.P282L|MAPK10_ENST00000449047.2_Missense_Mutation_p.P137L|MAPK10_ENST00000361569.2_Missense_Mutation_p.P282L|MAPK10_ENST00000395161.2_Missense_Mutation_p.P282L	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	282	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		TTCTGGACATGGTGTTCCTAG	0.418000													6	58					0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86952298	86952298	+	Silent	SNP	A	A	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:86952298A>G	ENST00000234701.3	+	8	1395	c.1044A>G	c.(1042-1044)acA>acG	p.T348T	CLCA1_ENST00000394711.1_Silent_p.T348T			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	348	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GGATGGTGACATTTGACAGTG	0.502000													54	121					0	0	1	0	0
STARD7-AS1	285033	broad.mit.edu	37	2	96906136	96906136	+	RNA	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:96906136C>T	ENST00000446816.1	+	0	564																											GTAATTTCTTCCGAATTCAAA	0.408000													17	40					0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30887642	30887642	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr22:30887642C>T	ENST00000392772.2	-	11	1114	c.837G>A	c.(835-837)atG>atA	p.M279I	RP4-539M6.14_ENST00000610156.1_RNA|SEC14L4_ENST00000381982.3_Missense_Mutation_p.M333I|SEC14L4_ENST00000255858.7_Missense_Mutation_p.M333I|SEC14L4_ENST00000540456.1_Missense_Mutation_p.M318I			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	333	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GCACCTCCGTCATCTCCCTAG	0.597000													42	111					0	0	1	0	0
GKAP1	80318	broad.mit.edu	37	9	86368206	86368206	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr9:86368206G>C	ENST00000376371.2	-	9	1207	c.807C>G	c.(805-807)atC>atG	p.I269M	GKAP1_ENST00000376365.3_Missense_Mutation_p.I218M	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	269					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TCAGCTTCTGGATTTCAGCAT	0.323000													19	76					0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36202544	36202544	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:36202544C>T	ENST00000251195.5	-	24	3976	c.3880G>A	c.(3880-3882)Gag>Aag	p.E1294K	CLSPN_ENST00000373220.3_Missense_Mutation_p.E1230K|CLSPN_ENST00000520551.1_Missense_Mutation_p.E1241K|CLSPN_ENST00000318121.3_Missense_Mutation_p.E1294K|CLSPN_ENST00000466308.1_5'UTR			Q9HAW4	CLSPN_HUMAN	claspin	1294					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTGCCGCCTCAGCCTTGACA	0.403000													31	81					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122363391	122363391	+	Silent	SNP	C	C	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:122363391C>A	ENST00000263710.4	-	2	470	c.81G>T	c.(79-81)ctG>ctT	p.L27L	CLASP1_ENST00000455322.2_Silent_p.L27L|CLASP1_ENST00000541377.1_Silent_p.L27L|CLASP1_ENST00000397587.3_Silent_p.L27L|CLASP1_ENST00000409078.3_Silent_p.L27L	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	27					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					AATAGTCTATCAGTTCTTGGC	0.483000													19	77					7.45023e-12	7.97905e-12	1	1	0
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr17:37868208C>T	ENST00000406381.2	+	10	1349	c.839C>T	c.(838-840)tCc>tTc	p.S280F	ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			72	275					0	0	1	0	0
SRPK1	6732	broad.mit.edu	37	6	35803104	35803104	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:35803104G>A	ENST00000373825.2	-	16	2230	c.1945C>T	c.(1945-1947)Cgg>Tgg	p.R649W	SRPK1_ENST00000423325.2_Missense_Mutation_p.R633W|SRPK1_ENST00000373822.1_Missense_Mutation_p.R541W			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	649	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						CAAGGGTGCCGGAGACACTCG	0.567000													6	23					0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122720405	122720405	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr12:122720405C>G	ENST00000267199.4	-	11	1480	c.1368G>C	c.(1366-1368)caG>caC	p.Q456H	RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.Q417H	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	456					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TGCCCCCCGTCTGCGGTTTCA	0.493000													77	169					0	0	1	0	0
NKD1	85407	broad.mit.edu	37	16	50659487	50659487	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr16:50659487G>A	ENST00000268459.3	+	6	682	c.458G>A	c.(457-459)cGa>cAa	p.R153Q		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	153	EF-hand.|Interaction with DVL1, DVL2 and DVL3 (By similarity).				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AAGGTCACCCGAGAGGTGAGT	0.617000													18	34					0	0	1	0	0
KLHL11	55175	broad.mit.edu	37	17	40011358	40011358	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr17:40011358G>C	ENST00000319121.3	-	2	821	c.761C>G	c.(760-762)tCa>tGa	p.S254*		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	254	BACK.					extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				TTCCAAATCTGAAAGCCAGTC	0.378000													14	47					0	0	1	0	0
CDCA8	55143	broad.mit.edu	37	1	38167463	38167463	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:38167463C>T	ENST00000373055.1	+	6	734	c.461C>T	c.(460-462)tCc>tTc	p.S154F	CDCA8_ENST00000327331.2_Missense_Mutation_p.S154F	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	154					cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGAACTCAGTCCATACAAGGA	0.413000													10	57					0	0	1	0	0
KCNE1	3753	broad.mit.edu	37	21	35821850	35821850	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr21:35821850G>A	ENST00000337385.3	-	3	458	c.83C>T	c.(82-84)tCg>tTg	p.S28L	KCNE1_ENST00000399284.1_Missense_Mutation_p.S28L|KCNE1_ENST00000399286.2_Missense_Mutation_p.S28L|KCNE1_ENST00000399289.3_Missense_Mutation_p.S28L|KCNE1_ENST00000416357.2_Missense_Mutation_p.S28L|KCNE1_ENST00000432085.1_Missense_Mutation_p.S28L	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	28					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	GGCCAGGCCCGACATGTTGCC	0.607000													14	51					0	0	1	0	0
COPB2	9276	broad.mit.edu	37	3	139085500	139085500	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:139085500G>A	ENST00000333188.5	-	15	1975	c.1794C>T	c.(1792-1794)gtC>gtT	p.V598V	COPB2_ENST00000507777.1_Silent_p.V569V	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	598					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CCCTCCGCATGACAGCTGTCT	0.448000													21	42					0	0	1	0	0
F12	2161	broad.mit.edu	37	5	176830876	176830876	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr5:176830876G>A	ENST00000253496.3	-	10	1282	c.1234C>T	c.(1234-1236)Cac>Tac	p.H412Y		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	412	Peptidase S1.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCAGGCAGTGAGCGGCCGTC	0.746000									Hereditary Angioedema				4	12					0	0	1	0	0
PPM1G	5496	broad.mit.edu	37	2	27607698	27607698	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:27607698C>A	ENST00000344034.4	-	5	931	c.667G>T	c.(667-669)Gag>Tag	p.E223*	PPM1G_ENST00000350803.4_Nonsense_Mutation_p.E223*	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	223					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TGGCCTGCCTCAGTCCCACGT	0.567000													27	64					4.22769e-11	4.50895e-11	1	1	0
MYOM2	9172	broad.mit.edu	37	8	2048795	2048795	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr8:2048795G>T	ENST00000262113.4	+	20	2711	c.2570G>T	c.(2569-2571)gGa>gTa	p.G857V	MYOM2_ENST00000523438.1_Missense_Mutation_p.G282V	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	857	Fibronectin type-III 5.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GAGGATGCTGGAGAGTGGATC	0.537000													12	31					1.05317e-09	1.11168e-09	1	1	0
ZAP70	7535	broad.mit.edu	37	2	98340694	98340694	+	Silent	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:98340694C>G	ENST00000264972.5	+	3	410	c.195C>G	c.(193-195)ctC>ctG	p.L65L		NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	65	SH2 1.				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						AGCGCCAGCTCAACGGCACCT	0.672000													3	15					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152576147	152576147	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:152576147C>G	ENST00000367255.5	-	104	19939	c.19338G>C	c.(19336-19338)gaG>gaC	p.E6446D	SYNE1_ENST00000265368.4_Missense_Mutation_p.E6446D|SYNE1_ENST00000341594.5_Missense_Mutation_p.E6058D|SYNE1_ENST00000356820.4_Missense_Mutation_p.E970D|SYNE1_ENST00000448038.1_Missense_Mutation_p.E6375D|SYNE1_ENST00000423061.1_Missense_Mutation_p.E6375D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6446					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.E6446D(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TATCACCATTCTCTGGAAAAG	0.373000										HNSCC(10;0.0054)			6	12					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222721221	222721221	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:222721221G>C	ENST00000343410.6	-	1	224	c.166C>G	c.(166-168)Ctg>Gtg	p.L56V		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	56					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCAAGGTGCAGAGGGGGCTGG	0.577000													38	59					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73679943	73679943	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:73679943C>T	ENST00000264448.6	+	8	6397	c.6286C>T	c.(6286-6288)Cac>Tac	p.H2096Y	ALMS1_ENST00000377715.1_Missense_Mutation_p.H2096Y|ALMS1_ENST00000409009.1_Missense_Mutation_p.H2054Y	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2096	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTCTTATTTTCACAGAGAGAA	0.393000													7	45					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	150004901	150004901	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:150004901G>T	ENST00000543571.1	-	4	1871	c.1324C>A	c.(1324-1326)Cag>Aag	p.Q442K	LATS1_ENST00000253339.5_Missense_Mutation_p.Q442K|LATS1_ENST00000392273.3_Missense_Mutation_p.Q442K|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	442					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GGGGATGACTGGGCTGGAGCA	0.423000													66	228					9.65139e-37	1.07168e-36	1	1	0
PDE7A	5150	broad.mit.edu	37	8	66753681	66753681	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr8:66753681G>A	ENST00000401827.3	-	1	506	c.63C>T	c.(61-63)ctC>ctT	p.L21L	PDE7A_ENST00000396642.3_Silent_p.L21L	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	21						cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	CTCGGCGGCTGAGGACGTGCT	0.697000													7	26					0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45790773	45790773	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr19:45790773G>T	ENST00000300843.4	+	13	1642	c.1345G>T	c.(1345-1347)Gag>Tag	p.E449*	MARK4_ENST00000262891.4_Nonsense_Mutation_p.E449*	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	449					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGAGCTGAAGGAGGAGCGGCT	0.716000													12	19					7.03913e-09	7.35453e-09	1	1	0
MED13	9969	broad.mit.edu	37	17	60059810	60059810	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr17:60059810G>C	ENST00000397786.2	-	16	3630	c.3554C>G	c.(3553-3555)tCt>tGt	p.S1185C		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1185					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAAATCATCAGATAATTTTTC	0.378000													40	82					0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113487179	113487179	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr13:113487179C>T	ENST00000487903.1	+	14	1489	c.1401C>T	c.(1399-1401)cgC>cgT	p.R467R	ATP11A_ENST00000375630.2_Silent_p.R467R|ATP11A_ENST00000375645.3_Silent_p.R467R|ATP11A_ENST00000283558.8_Silent_p.R467R			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	467					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			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TATAGGAGCGCGAGGAGCTGT	0.572000													95	327					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229444	39229444	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:39229444G>C	ENST00000340369.3	-	2	1721	c.1493C>G	c.(1492-1494)tCt>tGt	p.S498C	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.S498C	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	498							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCTGCTAACAGAGGTCAGGGC	0.592000													48	119					0	0	1	0	0
ETNK2	55224	broad.mit.edu	37	1	204106292	204106292	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:204106292C>T	ENST00000367199.2	-	5	1157	c.747G>A	c.(745-747)ggG>ggA	p.G249G	ETNK2_ENST00000367198.2_Silent_p.G140G|ETNK2_ENST00000367202.4_Silent_p.G318G|ETNK2_ENST00000367197.1_5'UTR|ETNK2_ENST00000367201.3_Silent_p.G318G			Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	318							ATP binding|choline kinase activity|ethanolamine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TCACGGCCATCCCCTTTTGTG	0.602000													60	180					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120385864	120385864	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr7:120385864G>A	ENST00000331113.4	+	5	2463	c.1498G>A	c.(1498-1500)Gaa>Aaa	p.E500K		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	500					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					ACAAGTCTTTGAAGAAAGCTG	0.408000													8	56					0	0	1	0	0
UBE3D	90025	broad.mit.edu	37	6	83775419	83775419	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:83775419C>T	ENST00000369747.3	-	1	141	c.19G>A	c.(19-21)Gag>Aag	p.E7K	UBE3D_ENST00000369745.5_Missense_Mutation_p.E7K	NM_198920.1	NP_944602.1	Q7Z6J8	UB2CB_HUMAN	ubiquitin protein ligase E3D	7						cytoplasm	ligase activity										ACGCGCGTCTCCGCCGCAGAA	0.647000											OREG0017550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	22					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95816712	95816712	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr13:95816712G>A	ENST00000376887.4	-	16	2209	c.2095C>T	c.(2095-2097)Cag>Tag	p.Q699*	ABCC4_ENST00000536256.1_Nonsense_Mutation_p.Q624*|ABCC4_ENST00000412704.1_Intron|ABCC4_ENST00000431522.1_Nonsense_Mutation_p.Q699*	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	699					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTATAGGCCTGAAAACCAACT	0.398000													21	57					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102466402	102466402	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr14:102466402G>C	ENST00000360184.4	+	17	4045	c.3881G>C	c.(3880-3882)aGa>aCa	p.R1294T		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1294	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAGGACGACAGAGAGAAGTGT	0.547000													25	65					0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94850621	94850621	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr5:94850621G>T	ENST00000358746.2	-	26	2939	c.2641C>A	c.(2641-2643)Cat>Aat	p.H881N	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	881							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AAAGCCTCATGAGCTTGCTAG	0.308000													8	18					0.000274275	0.000276975	1	1	0
DPP9	91039	broad.mit.edu	37	19	4704166	4704166	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr19:4704166C>T	ENST00000262960.9	-	6	854	c.577G>A	c.(577-579)Gac>Aac	p.D193N	DPP9_ENST00000597849.1_Missense_Mutation_p.D193N|DPP9_ENST00000598800.1_Missense_Mutation_p.D164N|DPP9_ENST00000594671.1_Missense_Mutation_p.D164N	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	164					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	p.D272Y(1)		cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		TTGCCGCCGTCGCGGCAGTGG	0.672000													24	57					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120814144	120814144	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr8:120814144C>T	ENST00000378164.2	-	6	980	c.682G>A	c.(682-684)Gat>Aat	p.D228N		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	228					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTCCTCATATCATGAGTATAC	0.378000													24	51					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34636986	34636986	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr10:34636986C>T	ENST00000374789.3	-	15	2450	c.2125G>A	c.(2125-2127)Gat>Aat	p.D709N	PARD3_ENST00000350537.4_Missense_Mutation_p.D696N|PARD3_ENST00000545693.1_Missense_Mutation_p.D696N|PARD3_ENST00000374788.3_Missense_Mutation_p.D709N|PARD3_ENST00000346874.4_Missense_Mutation_p.D709N|PARD3_ENST00000374768.1_Missense_Mutation_p.D147N|PARD3_ENST00000374773.1_Missense_Mutation_p.D709N|PARD3_ENST00000374794.3_Missense_Mutation_p.D652N|PARD3_ENST00000544292.1_Missense_Mutation_p.D426N|PARD3_ENST00000340077.5_Missense_Mutation_p.D709N|PARD3_ENST00000374776.1_Missense_Mutation_p.D696N|PARD3_ENST00000545260.1_Missense_Mutation_p.D652N|PARD3_ENST00000374790.3_Missense_Mutation_p.D652N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	709					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CGTTCTCTATCATCCAACGCT	0.517000													19	115					0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46801002	46801002	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:46801002G>A	ENST00000230588.4	+	11	1345	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	446	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CCAAGTCCTTGAGAACACCAG	0.493000													28	99					0	0	1	0	0
GFM1	85476	broad.mit.edu	37	3	158366879	158366879	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:158366879G>C	ENST00000486715.1	+	5	979	c.622G>C	c.(622-624)Gag>Cag	p.E208Q	GFM1_ENST00000478576.1_Missense_Mutation_p.E208Q|GFM1_ENST00000264263.5_Missense_Mutation_p.E208Q	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	208					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CATGGGTTTGGAGGGTAATTT	0.323000													37	142					0	0	1	0	0
TMEM223	79064	broad.mit.edu	37	11	62558199	62558199	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:62558199G>A	ENST00000307366.7	-	2	531	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L	TMEM223_ENST00000527073.1_Intron|TMEM223_ENST00000525631.1_Intron	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN	transmembrane protein 223	169						integral to membrane											TTGACTTTCAGAGGTAGCATG	0.522000													4	15					0	0	1	0	0
ZMYM2	7750	broad.mit.edu	37	13	20635211	20635211	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr13:20635211C>G	ENST00000382869.3	+	17	3009	c.2758C>G	c.(2758-2760)Ctg>Gtg	p.L920V	ZMYM2_ENST00000382874.2_Missense_Mutation_p.L920V|ZMYM2_ENST00000382883.3_3'UTR|ZMYM2_ENST00000382871.2_Missense_Mutation_p.L920V	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	920					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TCCTGTTTTTCTGCCTGCTCC	0.363000													8	17					0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97909626	97909626	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:97909626G>C	ENST00000420699.2	+	70	4673	c.4429G>C	c.(4429-4431)Gag>Cag	p.E1477Q	ANKRD36_ENST00000461153.2_Missense_Mutation_p.E1477Q	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1477										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AAATGTTGAAGAGGTGCACCA	0.328000													6	15					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50117168	50117168	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr5:50117168C>T	ENST00000281631.5	+	16	1948	c.1790C>T	c.(1789-1791)cCc>cTc	p.P597L	PARP8_ENST00000503750.2_Intron|PARP8_ENST00000514067.2_Intron|PARP8_ENST00000505697.2_Missense_Mutation_p.P597L|PARP8_ENST00000505554.1_Missense_Mutation_p.P576L|PARP8_ENST00000514342.2_Intron|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	597						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GCCTTCAACCCCAGGGTAAGT	0.388000													28	81					0	0	1	0	0
ETNPPL	64850	broad.mit.edu	37	4	109669168	109669168	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr4:109669168C>T	ENST00000296486.3	-	9	1229	c.1075G>A	c.(1075-1077)Gat>Aat	p.D359N	ETNPPL_ENST00000411864.2_Missense_Mutation_p.D353N|ETNPPL_ENST00000510706.1_Missense_Mutation_p.D319N|ETNPPL_ENST00000512646.1_Missense_Mutation_p.D301N	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		TACCTAATATCTCCTATCAAA	0.343000													23	67					0	0	1	0	0
EFHC1	114327	broad.mit.edu	37	6	52319027	52319027	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:52319027T>G	ENST00000371068.5	+	5	961	c.858T>G	c.(856-858)gaT>gaG	p.D286E	EFHC1_ENST00000538167.1_Missense_Mutation_p.D267E|EFHC1_ENST00000433625.2_Missense_Mutation_p.D195E	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	286	DM10 2.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					ATGGGAGAGATCCTTTCCCAC	0.428000													27	89					0	0	1	0	0
FAM199X	139231	broad.mit.edu	37	X	103431234	103431234	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chrX:103431234C>G	ENST00000493442.1	+	4	827	c.661C>G	c.(661-663)Caa>Gaa	p.Q221E	FAM199X_ENST00000299906.5_3'UTR	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	221										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						TCCTTCTGCTCAAATCTCCCC	0.363000													16	17					0	0	1	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117969794	117969794	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:117969794C>T	ENST00000534111.1	+	3	397	c.132C>T	c.(130-132)atC>atT	p.I44I	TMPRSS4_ENST00000522824.1_Silent_p.I46I|TMPRSS4_ENST00000437212.3_Silent_p.I46I|TMPRSS4_ENST00000523251.1_Intron|TMPRSS4_ENST00000522307.1_Intron	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022|NP_063947.1	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	46					proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TGGCGAGTATCATCATTGTGG	0.547000													26	93					0	0	1	0	0
WTAP	9589	broad.mit.edu	37	6	160176086	160176086	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:160176086G>C	ENST00000358372.4	+	8	2391	c.634G>C	c.(634-636)Gat>Cat	p.D212H	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	212					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		CATCCAGCTTGATGAAGAAGT	0.448000													8	25					0	0	1	0	0
TPM4	7171	broad.mit.edu	37	19	16192846	16192846	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr19:16192846G>A	ENST00000300933.4	+	2	516	c.256G>A	c.(256-258)Gag>Aag	p.E86K	TPM4_ENST00000344824.6_Missense_Mutation_p.E122K|TPM4_ENST00000538887.1_Missense_Mutation_p.E122K	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4	86					cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						AGCTGCAGATGAGAGTGAGAG	0.547000			T	ALK	ALCL								9	26					0	0	1	0	0
MSANTD1	345222	broad.mit.edu	37	4	3254957	3254957	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr4:3254957G>C	ENST00000438480.2	+	2	2091	c.344G>C	c.(343-345)aGc>aCc	p.S115T	MSANTD1_ENST00000507492.1_Missense_Mutation_p.S102T|MSANTD1_ENST00000510580.1_Missense_Mutation_p.S115T	NM_001042690.1	NP_001036155.1	Q6ZTZ1	CD044_HUMAN	Myb/SANT-like DNA-binding domain containing 1	115										endometrium(1)|lung(2)	3						ATGACAGATAGCGAGTCCGCC	0.587000													30	157					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163236456	163236456	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:163236456T>A	ENST00000332142.5	-	14	3137	c.3038A>T	c.(3037-3039)cAg>cTg	p.Q1013L		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1013					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GGCAGCTCGCTGAAGTGCAGA	0.493000													52	150					0	0	1	0	0
MRPL37	51253	broad.mit.edu	37	1	54670818	54670818	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:54670818C>T	ENST00000605337.1	+	2	522	c.474C>T	c.(472-474)atC>atT	p.I158I	MRPL37_ENST00000487096.1_3'UTR|MRPL37_ENST00000336230.6_Intron|MRPL37_ENST00000360840.5_Silent_p.I158I			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	158					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						TGAATGTGATCTCTCACGCCC	0.473000													14	46					0	0	1	0	0
IGFBP4	3487	broad.mit.edu	37	17	38612822	38612822	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr17:38612822G>A	ENST00000269593.4	+	4	1039	c.764G>A	c.(763-765)aGc>aAc	p.S255N	IGFBP4_ENST00000542955.1_Missense_Mutation_p.S155N	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	255					DNA metabolic process|signal transduction|skeletal system development					NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CTGGCTGACAGCTTTCGAGAG	0.652000													28	79					0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148801741	148801741	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr7:148801741G>A	ENST00000378061.2	-	4	1354	c.1222C>T	c.(1222-1224)Cac>Tac	p.H408Y		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	408					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCTCCCGTGTGAACTCTGATG	0.532000													51	136					0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119204178	119204178	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr4:119204178G>T	ENST00000296498.3	-	12	2410	c.2128C>A	c.(2128-2130)Caa>Aaa	p.Q710K	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	710	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						ACAATCTGTTGAACTCCAATT	0.468000													36	107					2.87052e-16	3.12649e-16	1	1	0
GZMH	2999	broad.mit.edu	37	14	25076945	25076945	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr14:25076945T>C	ENST00000216338.4	-	3	256	c.212A>G	c.(211-213)aAt>aGt	p.N71S	GZMH_ENST00000382548.4_Missense_Mutation_p.N71S|GZMH_ENST00000557220.2_Intron|RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA	NM_033423.4	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	71	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		CAAGGTGACATTTATGGAGCT	0.547000													10	169					0	0	1	0	0
CEP95	90799	broad.mit.edu	37	17	62504759	62504759	+	Silent	SNP	G	G	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr17:62504759G>T	ENST00000556440.2	+	2	579	c.69G>T	c.(67-69)ctG>ctT	p.L23L	CEP95_ENST00000581056.1_Silent_p.L23L|CEP95_ENST00000553412.1_5'UTR	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	23						centrosome|spindle pole	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						ATATACATCTGAGAATACATG	0.353000													15	69					1.49906e-05	1.53803e-05	1	1	0
ALPK3	57538	broad.mit.edu	37	15	85382285	85382285	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr15:85382285G>A	ENST00000258888.5	+	4	1152	c.985G>A	c.(985-987)Gag>Aag	p.E329K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	329	Ig-like 1.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCAAAATATGAGATCACTCA	0.572000													5	13					0	0	1	0	0
ARSE	415	broad.mit.edu	37	X	2861118	2861118	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chrX:2861118C>T	ENST00000545496.1	-	9	1480	c.1189G>A	c.(1189-1191)Gga>Aga	p.G397R	ARSE_ENST00000540563.1_Missense_Mutation_p.G327R|ARSE_ENST00000381134.3_Missense_Mutation_p.G372R	NM_001282628.1	NP_001269557.1	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	372					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTATAAATTCCATTCCAGCCA	0.473000													22	29					0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43364157	43364157	+	RNA	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr17:43364157G>A	ENST00000344686.2	-	0	898							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGGAAGGGATGAGGCAGTCTG	0.617000													9	38					0	0	1	0	0
HHIPL1	84439	broad.mit.edu	37	14	100118917	100118917	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr14:100118917T>A	ENST00000330710.5	+	2	710	c.612T>A	c.(610-612)gaT>gaA	p.D204E	HHIPL1_ENST00000357223.2_Missense_Mutation_p.D204E	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	204					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				ATGCCAGGGATGGCACCCACC	0.687000													19	42					0	0	1	0	0
WDR31	114987	broad.mit.edu	37	9	116094269	116094269	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr9:116094269G>A	ENST00000374193.4	-	3	280	c.34C>T	c.(34-36)Cct>Tct	p.P12S	WDR31_ENST00000374195.3_5'UTR|WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000341761.4_Missense_Mutation_p.P12S	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	12										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						TTCTGTGGAGGAGCTTGTTTC	0.428000													19	51					0	0	1	0	0
RDH16	8608	broad.mit.edu	37	12	57348753	57348753	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr12:57348753G>T	ENST00000398138.3	-	2	1365	c.509C>A	c.(508-510)tCa>tAa	p.S170*	RDH16_ENST00000360752.4_Intron	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	170					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						ACCAAAAAGTGACACCCGGCC	0.582000													16	97					2.31682e-05	2.36288e-05	1	1	0
KCTD7	154881	broad.mit.edu	37	7	66262459	66262459	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr7:66262459G>A	ENST00000380828.2	+	8	968	c.814G>A	c.(814-816)Gag>Aag	p.E272K	RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000437078.2_Missense_Mutation_p.E246K|KCTD7_ENST00000510829.2_Missense_Mutation_p.E232K|RABGEF1_ENST00000450873.2_Missense_Mutation_p.E232K|KCTD7_ENST00000451741.2_Missense_Mutation_p.E232K|RABGEF1_ENST00000284957.5_Missense_Mutation_p.E232K|RABGEF1_ENST00000439720.2_Missense_Mutation_p.E245K			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TACTGATGATGAGAAGAAAGA	0.373000													23	51					0	0	1	0	0
PPM1G	5496	broad.mit.edu	37	2	27607584	27607584	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:27607584C>T	ENST00000344034.4	-	5	1045	c.781G>A	c.(781-783)Gag>Aag	p.E261K	PPM1G_ENST00000350803.4_Missense_Mutation_p.E261K	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	261	Asp/Glu-rich (acidic).				cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GACTCATCCTCACTGTCCTCA	0.552000													48	132					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100431461	100431461	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr12:100431461C>G	ENST00000279907.7	-	21	4560	c.4348G>C	c.(4348-4350)Gaa>Caa	p.E1450Q	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.E1100Q	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1450										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GCATCTTTTTCCAAGTGAGCC	0.398000													8	88					0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37441737	37441737	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr19:37441737A>G	ENST00000415168.1	+	5	1866	c.1490A>G	c.(1489-1491)aAt>aGt	p.N497S	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.N561S	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCAAATGTAATGAATGTGGT	0.383000													34	60					0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149915774	149915774	+	Silent	SNP	G	G	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:149915774G>T	ENST00000369135.4	-	12	2808	c.2514C>A	c.(2512-2514)ctC>ctA	p.L838L		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B						negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TGTGCACCAGGAGCTCCCCAT	0.512000													44	143					5.34276e-22	5.86902e-22	1	1	0
CDH5	1003	broad.mit.edu	37	16	66437031	66437031	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr16:66437031G>T	ENST00000341529.3	+	12	2462	c.2314G>T	c.(2314-2316)Gag>Tag	p.E772*	CDH5_ENST00000539168.1_Nonsense_Mutation_p.E211*	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	772					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		GATGCTGGCTGAGCTGTACGG	0.627000													8	16					2.17888e-05	2.23107e-05	1	1	0
RCC1	1104	broad.mit.edu	37	1	28858778	28858778	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:28858778G>C	ENST00000373833.6	+	7	642	c.357G>C	c.(355-357)gaG>gaC	p.E119D	RCC1_ENST00000373831.3_Missense_Mutation_p.E150D|RCC1_ENST00000373832.1_Missense_Mutation_p.E119D|RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000398958.2_Missense_Mutation_p.E119D			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	119					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTGCAAGAGAAGGTGGTAC	0.592000													7	42					0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	53989324	53989324	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chrX:53989324C>T	ENST00000338154.6	-	19	2996	c.2492G>A	c.(2491-2493)cGa>cAa	p.R831Q	PHF8_ENST00000338946.6_Missense_Mutation_p.R730Q|PHF8_ENST00000357988.5_Missense_Mutation_p.R867Q|PHF8_ENST00000322659.8_Missense_Mutation_p.R814Q	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	867					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TTTCTTGGGTCGAGATTTCAA	0.428000													22	37					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144994687	144994687	+	Silent	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:144994687C>G	ENST00000369359.4	-	4	494	c.456G>C	c.(454-456)ctG>ctC	p.L152L	PDE4DIP_ENST00000313382.9_Silent_p.L81L|PDE4DIP_ENST00000369351.3_Silent_p.L15L|PDE4DIP_ENST00000369347.4_Silent_p.L15L|PDE4DIP_ENST00000369349.3_Silent_p.L15L|PDE4DIP_ENST00000369356.4_Silent_p.L15L|PDE4DIP_ENST00000369348.3_Silent_p.L152L|PDE4DIP_ENST00000530740.1_Silent_p.L152L|PDE4DIP_ENST00000369354.3_Silent_p.L15L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	15					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTCCTTCTTCAGGTCATTGA	0.562000			T	PDGFRB	MPD								19	176					0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52661552	52661552	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr13:52661552C>T	ENST00000355568.4	-	15	1453	c.1314G>A	c.(1312-1314)caG>caA	p.Q438Q		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	438							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GCTCTTGTCTCTGGTTGTAAT	0.368000													28	71					0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100890922	100890922	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr9:100890922G>A	ENST00000343933.5	-	9	1304	c.1047C>T	c.(1045-1047)ctC>ctT	p.L349L	CORO2A_ENST00000375077.4_Silent_p.L349L	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	349					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TGGGCTCGATGAGGCTTTTGG	0.602000													26	82					0	0	1	0	0
PARP9	83666	broad.mit.edu	37	3	122274845	122274845	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:122274845G>C	ENST00000462315.1	-	4	466	c.173C>G	c.(172-174)tCt>tGt	p.S58C	PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Missense_Mutation_p.S58C|PARP9_ENST00000360356.2_Missense_Mutation_p.S93C|PARP9_ENST00000477522.2_Missense_Mutation_p.S58C	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	93					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		GACCAGGGTAGAGATACAGCC	0.403000													15	35					0	0	1	0	0
GPSM2	29899	broad.mit.edu	37	1	109444500	109444500	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:109444500C>G	ENST00000406462.2	+	9	1659	c.886C>G	c.(886-888)Caa>Gaa	p.Q296E	GPSM2_ENST00000264126.3_Missense_Mutation_p.Q296E|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2						G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TACTTTACTTCAAGACTATGA	0.383000													18	42					0	0	1	0	0
ZNF185	7739	broad.mit.edu	37	X	152139014	152139014	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chrX:152139014G>T	ENST00000535861.1	+	23	2143	c.2095G>T	c.(2095-2097)Gat>Tat	p.D699Y	ZNF185_ENST00000370270.2_Missense_Mutation_p.D699Y|ZNF185_ENST00000318529.8_Missense_Mutation_p.D446Y|ZNF185_ENST00000370268.4_Missense_Mutation_p.D667Y|ZNF185_ENST00000449285.2_Missense_Mutation_p.D668Y|ZNF185_ENST00000324823.6_Missense_Mutation_p.D435Y|ZNF185_ENST00000454925.1_Missense_Mutation_p.D305Y|ZNF185_ENST00000539731.1_Missense_Mutation_p.D670Y|ZNF185_ENST00000318504.7_Missense_Mutation_p.D608Y	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	667						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					ACCGATGGGCGATCTCCTGGA	0.493000													65	32					7.91278e-47	8.84369e-47	1	1	0
SNX14	57231	broad.mit.edu	37	6	86253353	86253353	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:86253353C>G	ENST00000314673.3	-	13	1410	c.1234G>C	c.(1234-1236)Gat>Cat	p.D412H	SNX14_ENST00000346348.3_Missense_Mutation_p.D368H|SNX14_ENST00000369627.2_Missense_Mutation_p.D412H|SNX14_ENST00000505648.1_Missense_Mutation_p.D360H|SNX14_ENST00000513865.1_Missense_Mutation_p.D412H|SNX14_ENST00000508980.1_5'UTR	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	412	RGS.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		ATGAAGGGATCAAATCTAATT	0.289000													5	9					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117352705	117352705	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:117352705G>A	ENST00000321322.6	-	12	2713	c.2712C>T	c.(2710-2712)aaC>aaT	p.N904N	DSCAML1_ENST00000527706.1_Silent_p.N634N	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	844	Fibronectin type-III 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCTCGTCGCCGTTGTCCTTGG	0.642000													21	86					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25925426	25925426	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr15:25925426G>A	ENST00000356865.6	-	20	3819	c.3708C>T	c.(3706-3708)ttC>ttT	p.F1236F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1236					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AAAGGACACTGAAGCCACACG	0.453000													37	104					0	0	1	0	0
ZNF783	100289678	broad.mit.edu	37	7	148978639	148978639	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr7:148978639G>C	ENST00000434415.1	+	6	1009	c.846G>C	c.(844-846)gaG>gaC	p.E282D	ZNF783_ENST00000489518.1_Intron	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	282					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.E282D(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			CTGAAGACGAGATGACGCCTG	0.622000													29	115					0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43019388	43019388	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:43019388C>T	ENST00000535468.1	-	3	1032	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	CUL7_ENST00000265348.3_Missense_Mutation_p.E232K	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	232					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATGGGGTGTTCAGAGAGCGTG	0.527000													29	110					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154863041	154863041	+	Silent	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr7:154863041G>A	ENST00000287907.2	+	1	1008	c.432G>A	c.(430-432)acG>acA	p.T144T	HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR|HTR5A-AS1_ENST00000395731.2_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	144						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GGTCCATCACGCGCCACATGG	0.637000													27	85					0	0	1	0	0
GPSM2	29899	broad.mit.edu	37	1	109444551	109444551	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:109444551C>G	ENST00000406462.2	+	9	1710	c.937C>G	c.(937-939)Caa>Gaa	p.Q313E	GPSM2_ENST00000264126.3_Missense_Mutation_p.Q313E|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2						G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		AGCAATTGCTCAAGAGCTGAA	0.323000													12	45					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	67072646	67072646	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr12:67072646C>T	ENST00000359742.4	-	1	279	c.39G>A	c.(37-39)ctG>ctA	p.L13L	GRIP1_ENST00000286445.7_Silent_p.L13L|GRIP1_ENST00000398016.3_Silent_p.L13L			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	13					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TAAGTCGCCTCAGAATTTGAC	0.418000													7	40					0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153475460	153475460	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:153475460T>G	ENST00000288670.9	+	14	1782	c.1415T>G	c.(1414-1416)aTt>aGt	p.I472S		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	472					actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GAAAAAAAGATTCATGAGCTA	0.398000													13	87					0	0	1	0	0
RASSF9	9182	broad.mit.edu	37	12	86198947	86198947	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr12:86198947C>G	ENST00000361228.3	-	2	1209	c.841G>C	c.(841-843)Gat>Cat	p.D281H		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	281					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGAGCTTATCAATGAGTATT	0.408000													12	97					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66386052	66386052	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr5:66386052G>T	ENST00000404260.3	+	6	1134	c.826G>T	c.(826-828)Gca>Tca	p.A276S	MAST4_ENST00000405643.1_Missense_Mutation_p.A94S|MAST4_ENST00000403625.2_Missense_Mutation_p.A276S|MAST4_ENST00000261569.7_Missense_Mutation_p.A82S|MAST4_ENST00000490016.2_Missense_Mutation_p.A87S|MAST4_ENST00000403666.1_Missense_Mutation_p.A87S			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	276						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TTTTTCATTTGCACGGAGGTA	0.448000													6	27					0.00198382	0.00199158	1	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77396075	77396075	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr16:77396075C>G	ENST00000282849.5	-	7	1561	c.1143G>C	c.(1141-1143)aaG>aaC	p.K381N		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	381	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GATCATGTCTCTTGCCATTCT	0.413000													11	30					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175541	140175541	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr5:140175541C>G	ENST00000526136.1	+	1	992	c.992C>G	c.(991-993)tCa>tGa	p.S331*	PCDHA2_ENST00000378132.1_Nonsense_Mutation_p.S331*|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Nonsense_Mutation_p.S331*|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTCAATGTCAGGACATTGT	0.403000													19	55					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179501196	179501196	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:179501196G>A	ENST00000589042.1	-	225	41482	c.41258C>T	c.(41257-41259)gCt>gTt	p.A13753V	TTN_ENST00000342992.6_Missense_Mutation_p.A11185V|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A4880V|TTN_ENST00000591111.1_Missense_Mutation_p.A12112V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A4813V|TTN_ENST00000460472.2_Missense_Mutation_p.A4688V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12112	Ig-like 94.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTATTCACCAGCATCGGAAAG	0.403000													12	40					0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148614377	148614377	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:148614377C>T	ENST00000296046.3	+	11	1189	c.1137C>T	c.(1135-1137)ctC>ctT	p.L379L	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	379					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CCTTTGAGCTCCGAGATAAAG	0.413000													27	91					0	0	1	0	0
QRSL1	55278	broad.mit.edu	37	6	107113690	107113690	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:107113690C>G	ENST00000369046.4	+	11	1504	c.1400C>G	c.(1399-1401)tCa>tGa	p.S467*		NM_018292.4	NP_060762.3	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1	467					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		GTTGCACTCTCAAACCAAGGG	0.448000													17	47					0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62892305	62892305	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr17:62892305G>C	ENST00000584306.1	-	3	1601	c.1071C>G	c.(1069-1071)atC>atG	p.I357M	LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.I357M|RP11-927P21.1_ENST00000584131.1_RNA|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000400877.3_Intron|RP11-927P21.1_ENST00000584959.1_RNA	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	357						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GCTGCTCACTGATGGAAAGTT	0.547000													42	437					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60913630	60913630	+	Silent	SNP	G	G	A	rs142723423		TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr20:60913630G>A	ENST00000252999.3	-	12	1578	c.1512C>T	c.(1510-1512)aaC>aaT	p.N504N		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	504	Laminin EGF-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCGGCAGGCGTTGCCCTGGG	0.662000													11	24					0	0	1	0	0
FAM27L	284123	broad.mit.edu	37	17	21825483	21825483	+	RNA	SNP	T	T	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr17:21825483T>A	ENST00000426869.3	+	0	187					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		cgccaggacctgaaatgggcc	0.652000													31	99					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122845549	122845549	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr12:122845549G>A	ENST00000358808.2	-	5	1116	c.962C>T	c.(961-963)tCa>tTa	p.S321L	CLIP1_ENST00000361654.4_Missense_Mutation_p.S321L|CLIP1_ENST00000545889.1_Missense_Mutation_p.S22L|CLIP1_ENST00000537178.1_Missense_Mutation_p.S321L|CLIP1_ENST00000540338.1_Missense_Mutation_p.S321L|CLIP1_ENST00000302528.7_Missense_Mutation_p.S321L	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	321	Ser-rich.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GGAGGCCACTGAGCTCATGGA	0.627000													10	34					0	0	1	0	0
KDM7A	80853	broad.mit.edu	37	7	139824427	139824427	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr7:139824427G>A	ENST00000397560.2	-	7	1142	c.1045C>T	c.(1045-1047)Cct>Tct	p.P349S	JHDM1D_ENST00000006967.5_Missense_Mutation_p.P349S	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		349	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TTACCTGTAGGAACAAATAAG	0.413000													11	36					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325913	152325913	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:152325913G>C	ENST00000388718.5	-	3	4421	c.4349C>G	c.(4348-4350)gCc>gGc	p.A1450G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1450							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGAGATCCGGCTTGGCCATG	0.507000													101	476					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12950881	12950881	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:12950881C>G	ENST00000273221.4	-	11	2728	c.2512G>C	c.(2512-2514)Gtg>Ctg	p.V838L		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	838	PH.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTTATTAACACTTTGATATCT	0.552000													41	134					0	0	1	0	0
ZNF273	10793	broad.mit.edu	37	7	64363779	64363779	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr7:64363779C>T	ENST00000476120.1	+	1	155	c.84C>T	c.(82-84)ctC>ctT	p.L28L	ZNF273_ENST00000319636.5_Intron|ZNF273_ENST00000545510.1_5'UTR|ZNF273_ENST00000527278.1_Intron	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CGCCAGGACTCCCTGGAAGCC	0.597000													34	138					0	0	1	0	0
C12orf44	60673	broad.mit.edu	37	12	52467471	52467471	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr12:52467471G>C	ENST00000336854.4	+	3	515	c.37G>C	c.(37-39)Gag>Cag	p.E13Q		NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN	chromosome 12 open reading frame 44	13					autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		GGTGTCGGTGGAGGGGCGGCA	0.597000													20	98					0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145																		p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													3	19					0	0	1	0	0
GPR78	27201	broad.mit.edu	37	4	8588977	8588977	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr4:8588977C>G	ENST00000382487.4	+	3	1396	c.979C>G	c.(979-981)Ctg>Gtg	p.L327V	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	327					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						TGACAGCTCTCTGGATGTGGC	0.647000													7	97					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84606453	84606453	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr9:84606453C>T	ENST00000344803.2	+	4	1115	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CTTCAGAATTCACCTGGTGGC	0.468000													26	77					0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36197607	36197607	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr14:36197607C>A	ENST00000258840.6	-	13	2087	c.1697G>T	c.(1696-1698)cGg>cTg	p.R566L	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.R566L|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.R566L|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.R566L|RALGAPA1_ENST00000554704.1_5'UTR	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	566					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AACCATGTACCGATAAATGTT	0.284000													8	20					1.12685e-05	1.15847e-05	1	1	0
HCN4	10021	broad.mit.edu	37	15	73615834	73615834	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr15:73615834G>A	ENST00000261917.3	-	8	3593	c.2600C>T	c.(2599-2601)gCc>gTc	p.A867V		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	867					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TCCAGCGGGGGCAGAGAATCC	0.692000													20	95					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101761658	101761658	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr12:101761658G>C	ENST00000261637.4	+	48	6462	c.6288G>C	c.(6286-6288)aaG>aaC	p.K2096N		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2096					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGAGTCTGAAGACTTCCAAGA	0.433000													18	144					0	0	1	0	0
SHC2	25759	broad.mit.edu	37	19	434831	434831	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr19:434831C>T	ENST00000264554.6	-	8	987	c.988G>A	c.(988-990)Gag>Aag	p.E330K		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	330	CH1.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGTCCTCCTCGTCCCCCCAG	0.662000													34	64					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16957034	16957034	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr10:16957034C>T	ENST00000377833.4	-	47	7413	c.7348G>A	c.(7348-7350)Gaa>Aaa	p.E2450K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2450					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AACTCACCTTCCATACTGGAT	0.423000													4	41					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102825887	102825887	+	RNA	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr7:102825887C>G	ENST00000312132.4	-	0	3810																											CTGCCAACCTCAAGTCTGCAT	0.448000													16	53					0	0	1	0	0
KCNK16	83795	broad.mit.edu	37	6	39290252	39290252	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:39290252A>G	ENST00000425054.2	-	1	64	c.65T>C	c.(64-66)gTc>gCc	p.V22A	KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000373227.4_Missense_Mutation_p.V22A|KCNK16_ENST00000437525.2_Missense_Mutation_p.V22A|KCNK16_ENST00000373229.5_Missense_Mutation_p.V22A	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	22						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CAGGTAGCAGACATAGGCCAG	0.662000													10	37					0	0	1	0	0
KIAA1919	91749	broad.mit.edu	37	6	111587987	111587987	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:111587987G>C	ENST00000368847.4	+	4	1575	c.1222G>C	c.(1222-1224)Gcc>Ccc	p.A408P		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	408					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		ATATAAATTAGCCACTTCACC	0.413000													27	123					0	0	1	0	0
HLA-E	3133	broad.mit.edu	37	6	30457327	30457327	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:30457327C>T	ENST00000376630.4	+	1	84	c.19C>T	c.(19-21)Ctt>Ttt	p.L7F		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	7					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						TGGAACCCTCCTTTTACTCCT	0.612000													38	133					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232626797	232626797	+	Silent	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:232626797C>T	ENST00000366630.1	-	4	1987	c.1629G>A	c.(1627-1629)ctG>ctA	p.L543L	SIPA1L2_ENST00000262861.4_Silent_p.L543L|SIPA1L2_ENST00000486472.1_5'UTR			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	543					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTGCTCCTCTCAGTGTTGTAA	0.428000													4	42					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56399958	56399958	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr6:56399958C>G	ENST00000370754.5	-	63	16809	c.16810G>C	c.(16810-16812)Gag>Cag	p.E5604Q	DST_ENST00000446842.2_Missense_Mutation_p.E5100Q|DST_ENST00000361203.3_Missense_Mutation_p.E5424Q|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.E3338Q|DST_ENST00000244364.6_Missense_Mutation_p.E3012Q|DST_ENST00000421834.2_Missense_Mutation_p.E3338Q|DST_ENST00000370769.4_Missense_Mutation_p.E5426Q|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	5424					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACTTTGAACTCAGCCGACGGG	0.468000													60	199					0	0	1	0	0
KCNK4	50801	broad.mit.edu	37	11	64067012	64067012	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:64067012C>G	ENST00000538767.1	+	6	901	c.649C>G	c.(649-651)Cac>Gac	p.H217D	KCNK4_ENST00000394525.2_Silent_p.P332P|KCNK4_ENST00000422670.2_Silent_p.P332P|KCNK4_ENST00000539216.1_Silent_p.P332P|RP11-783K16.10_ENST00000539086.1_RNA			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	312						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						CTTCCCCGCCCACGGCCTCGG	0.726000													20	71					0	0	1	0	0
IMMT	10989	broad.mit.edu	37	2	86406665	86406665	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr2:86406665C>T	ENST00000410111.3	-	3	587	c.200G>A	c.(199-201)tGg>tAg	p.W67*	IMMT_ENST00000449247.2_Nonsense_Mutation_p.W67*|IMMT_ENST00000254636.5_5'UTR|IMMT_ENST00000442664.2_Nonsense_Mutation_p.W67*|IMMT_ENST00000409051.2_Nonsense_Mutation_p.W67*	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	67						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATGGGAATCCCATTTGGCATA	0.438000													8	24					0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	114970513	114970513	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:114970513C>G	ENST00000358465.2	-	7	1242	c.1159G>C	c.(1159-1161)Gtt>Ctt	p.V387L	TRIM33_ENST00000369543.2_Missense_Mutation_p.V387L|TRIM33_ENST00000450349.2_5'UTR	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	387	Necessary for oligomerization.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTTTGTAACATTCTGAAAC	0.393000			T	RET	papillary thyroid								4	65					0	0	1	0	0
TMEM179B	374395	broad.mit.edu	37	11	62554931	62554931	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr11:62554931G>C	ENST00000333449.4	+	1	33	c.28G>C	c.(28-30)Gag>Cag	p.E10Q	TMEM223_ENST00000527073.1_Intron|TMEM179B_ENST00000533861.1_Missense_Mutation_p.E10Q	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	10						integral to membrane				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						GCAGCGCGTCGAGCTTGCGCT	0.736000											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	13					0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48577140	48577140	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr16:48577140T>C	ENST00000262384.3	-	7	2602	c.2366A>G	c.(2365-2367)aAt>aGt	p.N789S	N4BP1_ENST00000565423.1_5'UTR	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	789					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				CATGCCCACATTTGGCAGGGC	0.532000													8	19					0	0	1	0	0
C17orf77	146723	broad.mit.edu	37	17	72588466	72588466	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr17:72588466C>T	ENST00000392620.1	+	3	643	c.281C>T	c.(280-282)tCc>tTc	p.S94F	C17orf77_ENST00000328023.2_Missense_Mutation_p.S94F	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	94						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						TTGCTCACTTCCTGTTACATC	0.448000													22	80					0	0	1	0	0
MTERF	7978	broad.mit.edu	37	7	91502967	91502967	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr7:91502967G>T	ENST00000419292.1	-	2	1157	c.1081C>A	c.(1081-1083)Cta>Ata	p.L361I	MTERF_ENST00000351870.3_Missense_Mutation_p.L381I|MTERF_ENST00000406735.2_Missense_Mutation_p.L361I			Q99551	MTERF_HUMAN	mitochondrial transcription termination factor	381					DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			CTCCAAGATAGAAGAGTGATG	0.328000													12	39					1.5842e-08	1.64847e-08	1	1	0
PCNP	57092	broad.mit.edu	37	3	101311529	101311529	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:101311529G>A	ENST00000265260.3	+	5	590	c.469G>A	c.(469-471)Gat>Aat	p.D157N	PCNP_ENST00000486406.1_3'UTR|PCNP_ENST00000469941.1_Missense_Mutation_p.D34N|PCNP_ENST00000296024.5_3'UTR	NM_020357.1	NP_065090.1	Q8WW12	PCNP_HUMAN	PEST proteolytic signal containing nuclear protein	157					cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding			large_intestine(1)|lung(1)	2						TGGGTTTTCTGATAACCAGAA	0.358000													26	102					0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5988539	5988539	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr9:5988539C>G	ENST00000399933.3	-	2	599	c.600G>C	c.(598-600)ttG>ttC	p.L200F	KIAA2026_ENST00000381461.2_Missense_Mutation_p.L200F	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	200								p.L200F(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TCTTTTCTCTCAAGTGCCTTG	0.428000													6	27					0	0	1	0	0
ZNF675	171392	broad.mit.edu	37	19	23836456	23836456	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr19:23836456C>T	ENST00000359788.4	-	4	1447	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	427					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CCACATTCTTCACATTTGTAG	0.383000													19	37					0	0	1	0	0
HIST2H2BA	337875	broad.mit.edu	37	1	120906174	120906174	+	RNA	DEL	G	G	-			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:120906174delG	ENST00000430394.1	+	0	147					NR_027337.1																						ACGTGTAGGAGGTGCTGAAGC	0.587													67	225	---	---	---	---					
CADM3	57863	broad.mit.edu	37	1	159161758	159161772	+	In_Frame_Del	DEL	GTGGCTGGTGGCACC	GTGGCTGGTGGCACC	-			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr1:159161758_159161772delGTGGCTGGTGGCACC	ENST00000368125.4	+	2	278_292	c.121_135delGTGGCTGGTGGCACC	c.(121-135)gtggctggtggcaccdel	p.VAGGT41del	CADM3_ENST00000368124.4_In_Frame_Del_p.VAGGT75del	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	41	Ig-like V-type.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.V75V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TGAAACAGTGGTGGCTGGTGGCACCGTGGTGCTCA	0.535													24	80	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													4	5	---	---	---	---					
LOC441666	441666	broad.mit.edu	37	10	42832502	42832503	+	RNA	INS	-	-	TATCA			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr10:42832502_42832503insTATCA	ENST00000609841.1	-	0	1400_1401					NR_024380.1																						CCCCTATCAATTATGTTTAGTA	0.366													2	4	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49445149	49445149	+	Frame_Shift_Del	DEL	G	G	-			TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr12:49445149delG	ENST00000301067.7	-	10	2316	c.2317delC	c.(2317-2319)cagfs	p.Q773fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCCTCAGGCTGGGGGGACAGG	0.677													20	73	---	---	---	---					
MIR646HG	284757	broad.mit.edu	37	20	58883399	58883400	+	RNA	INS	-	-	T	rs149794923	by1000genomes	TCGA-K4-A5RJ-01A-11D-A289-08	TCGA-K4-A5RJ-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db69c7f-33ef-404d-9cc2-91928ea6a1bf	f3d2189a-2b92-45c7-8e70-122780dca8f1	g.chr20:58883399_58883400insT	ENST00000432910.1	+	0	332					NR_046099.1																						ggaccgggaaacagatgcttac	0.569													4	8	---	---	---	---