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
THTPA	79178	broad.mit.edu	37	14	24026160	24026160	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr14:24026160A>G	uc001wkh.4	+	1	564	c.194A>G	c.(193-195)aAa>aGa	p.K65R	THTPA_uc001wkb.4_Intron|THTPA_uc001wkg.4_Missense_Mutation_p.K65R|THTPA_uc010akr.3_Intron	NM_001126339	NP_077304	Q9BU02	THTPA_HUMAN	Homo sapiens thiamine triphosphatase (THTPA), transcript variant 2, mRNA.	65					dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)	Thiamine(DB00152)	TGGGAGCTCAAATGTCCTGGA	0.572000													15	27					0	0	1	0	0
HRH2	3274	broad.mit.edu	37	5	175110282	175110282	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr5:175110282G>A	uc003mdc.4	+	1	690	c.46G>A	c.(46-48)Gca>Aca	p.A16T	HRH2_uc003mdd.2_Missense_Mutation_p.A16T	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	16					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	GGACTCTACCGCATGCAAGAT	0.597000													4	230					0	0	1	0	0
CACNB4	785	broad.mit.edu	37	2	152732968	152732968	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr2:152732968C>A	uc002tya.3	-	4	561	c.493G>T	c.(493-495)Gaa>Taa	p.E165*	CACNB4_uc002txy.3_Nonsense_Mutation_p.E131*|CACNB4_uc002txz.3_Nonsense_Mutation_p.E147*|CACNB4_uc010fnz.3_Nonsense_Mutation_p.E165*|CACNB4_uc021vre.1_Nonsense_Mutation_p.E131*|CACNB4_uc002tyb.2_Nonsense_Mutation_p.E131*	NM_000726	NP_000717	O00305	CACB4_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA.	165					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	CTTTTTTGTTCTTGCTGGATC	0.408000													10	16					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117350	117350	+	RNA	SNP	C	C	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chrGL000205.1:117350C>A	uc002kgk.4	+	0		c.728C>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGCCACCTGGCCTTCTGTGAG	0.577000													3	47					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr1:145302714A>G	uc021oul.1	+	7	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L384L|NBPF10_uc010oyi.2_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L|NBPF10_uc021oum.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	384								p.L384L(6)|p.L113L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													4	156					0	0	1	0	0
SERPINE3	647174	broad.mit.edu	37	13	51918393	51918393	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr13:51918393A>G	uc001vfh.2	+	1	322	c.262A>G	c.(262-264)Agg>Ggg	p.R88G	SERPINE3_uc010tgp.2_Missense_Mutation_p.R88G	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 (SERPINE3), mRNA.	88					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						CACAGACAAAAGGGTGAAAGA	0.488000													3	40					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95549369	95549369	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr8:95549369C>G	uc003ygo.2	-	3	348	c.277G>C	c.(277-279)Gat>Cat	p.D93H	KIAA1429_uc003ygp.3_Missense_Mutation_p.D93H	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	93					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTATTCTCATCATATTCCAGG	0.333000													4	145					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41573977	41573977	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr22:41573977C>T	uc003azl.4	+	30	6657	c.6262C>T	c.(6262-6264)Cgg>Tgg	p.R2088W		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	2088	Interaction with HTLV-1 Tax.|Interaction with NCOA2.	Interaction with NCOA2.			DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CATCAAGCAGCGGGCTGCCAA	0.602000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				30	56					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70959376	70959376	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr15:70959376T>C	uc002asr.3	-	15	3751	c.3647A>G	c.(3646-3648)aAa>aGa	p.K1216R	UACA_uc010uke.2_Missense_Mutation_p.K1107R|UACA_uc002asq.3_Missense_Mutation_p.K1203R|UACA_uc010bin.1_Missense_Mutation_p.K1191R	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	1216						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTCTAATTTTTTTAATGCTTG	0.338000													18	61					0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45293750	45293750	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr1:45293750G>A	uc010olf.2	-	13	1835	c.1823C>T	c.(1822-1824)gCc>gTc	p.A608V	PTCH2_uc021omv.1_Missense_Mutation_p.A608V|PTCH2_uc010olg.2_Missense_Mutation_p.A306V	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	608					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CTGGCTGCTGGCTTCACAGTG	0.627000									Basal Cell Nevus syndrome				16	172					0	0	1	0	0
CNST	163882	broad.mit.edu	37	1	246810985	246810985	+	Silent	SNP	A	A	G			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr1:246810985A>G	uc001ibp.3	+	8	1860	c.1482A>G	c.(1480-1482)ggA>ggG	p.G494G	CNST_uc001ibo.4_Silent_p.G494G	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA.	494					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						ACAGTGATGGAAAATCACCAC	0.473000													8	78					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37881014	37881014	+	Silent	SNP	T	T	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr17:37881014T>C	uc002hso.3	+	19	2581	c.2343T>C	c.(2341-2343)taT>taC	p.Y781Y	ERBB2_uc010cwa.3_Silent_p.Y766Y|ERBB2_uc002hsm.3_Silent_p.Y751Y|ERBB2_uc002hsp.3_Silent_p.Y584Y|ERBB2_uc010cwb.3_Silent_p.Y781Y|ERBB2_uc010wek.2_Silent_p.Y505Y|MIR4728_uc021twt.1_5'Flank	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	781	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|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|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.P780_Y781insGSP(7)|p.S779_P780insVGS(2)|p.Y781C(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)	GCTCCCCATATGTCTCCCGCC	0.597000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			27	65					0	0	1	0	0
KIF25	3834	broad.mit.edu	37	6	168430272	168430272	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr6:168430272T>A	uc003qwk.1	+	1	269	c.7T>A	c.(7-9)Tgg>Agg	p.W3R	KIF25_uc010kkt.1_Non-coding_Transcript|KIF25_uc003qwl.1_Missense_Mutation_p.W3R	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	3	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.W3R(2)|p.W3C(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCAGATGACATGGACCTCAGG	0.612000													4	178					0	0	1	0	0
AL117485	0	broad.mit.edu	37	22	18846098	18846098	+	RNA	SNP	G	G	A	rs9306211		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr22:18846098G>A	uc002zoe.3	+	4		c.2460G>A			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		ATGCCTCGGCGCTCGATCTCC	0.622000													6	43					0	0	1	0	0
SAG	6295	broad.mit.edu	37	2	234237163	234237163	+	Silent	SNP	C	C	T			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr2:234237163C>T	uc002vuh.2	+	7	940	c.552C>T	c.(550-552)gcC>gcT	p.A184A	SAG_uc010zmq.1_Silent_p.A50A	NM_000541	NP_000532	P10523	ARRS_HUMAN	Homo sapiens S-antigen; retina and pineal gland (arrestin) (SAG), mRNA.	184					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TACAGCATGCCCCACTTGAGA	0.587000													7	140					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24460518	24460518	+	Silent	SNP	G	G	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr22:24460518G>A	uc002zzi.1	+	14	2032	c.1905G>A	c.(1903-1905)ctG>ctA	p.L635L	CABIN1_uc021wnc.1_Silent_p.L585L|CABIN1_uc002zzj.1_Silent_p.L585L|CABIN1_uc002zzl.2_Silent_p.L635L	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	635					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	p.L635L(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGCAGGCCCTGGAGAACTATG	0.532000													9	329					0	0	1	0	0
WASH2P	375260	broad.mit.edu	37	2	114355129	114355129	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr2:114355129G>A	uc002tkh.3	+	3	564	c.506G>A	c.(505-507)cGc>cAc	p.R169H	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript|WASH2P_uc010fkz.1_Non-coding_Transcript|WASH2P_uc002tkf.2_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		GAGTCCATCCGCCAAGCTGGG	0.657000													3	26					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25439071	25439071	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr20:25439071C>T	uc002wux.1	-	21	3865	c.3791G>A	c.(3790-3792)cGc>cAc	p.R1264H	NINL_uc010gdn.1_Missense_Mutation_p.R915H|NINL_uc002wuw.1_Missense_Mutation_p.R55H	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	1264					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	p.R1264L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCTGAGCAGGCGATGCAGCTC	0.667000													12	42					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62851156	62851156	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr20:62851156A>T	uc002yii.3	+	12	2426	c.2062A>T	c.(2062-2064)Agc>Tgc	p.S688C	MYT1_uc002yih.3_Missense_Mutation_p.S390C|MYT1_uc002yij.3_Missense_Mutation_p.S347C	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	688	Ser-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					cagcagcagcagctgcagcag	0.602000													3	32					0	0	1	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54118947	54118947	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:54118947T>C	uc001sef.3	-	1	224	c.80A>G	c.(79-81)aAc>aGc	p.N27S	CALCOCO1_uc010som.2_Missense_Mutation_p.N27S|CALCOCO1_uc010son.2_5'UTR|CALCOCO1_uc009znd.3_Missense_Mutation_p.N27S|CALCOCO1_uc001seg.3_5'UTR|CALCOCO1_uc001seh.2_Missense_Mutation_p.N27S|CALCOCO1_uc010soo.1_Missense_Mutation_p.N27S	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 1, mRNA.	27	N-terminal AD (CTNNB1 binding site) (By similarity).|p300 KIX-binding (By similarity).				Wnt receptor signaling pathway|steroid hormone receptor signaling pathway|transcription, DNA-dependent	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	p.N27S(2)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CACCTTGGTGTTGGGGATGTA	0.542000													13	83					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100452768	100452768	+	Silent	SNP	A	A	G			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:100452768A>G	uc001tgq.3	-	13	2516	c.2287T>C	c.(2287-2289)Ttg>Ctg	p.L763L	UHRF1BP1L_uc001tgp.3_Silent_p.L413L	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	763										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						TTCCGCTTCAATCGGCCAGCC	0.408000													49	127					0	0	1	0	0
DDX12P	440081	broad.mit.edu	37	12	9577137	9577137	+	RNA	SNP	C	C	T			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:9577137C>T	uc021qut.1	-	8		c.773G>A			DDX12P_uc001qvx.4_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		CTGCATGGTCCCCCCGGCAAT	0.572000													3	53					0	0	1	0	0
CYP27B1	1594	broad.mit.edu	37	12	58159257	58159257	+	Silent	SNP	G	G	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:58159257G>A	uc021qzp.1	-	0	212	c.204C>T	c.(202-204)tcC>tcT	p.S68S	CYP27B1_uc001spz.1_Missense_Mutation_p.R138C|CYP27B1_uc001sqa.1_5'UTR|CYP27B1_uc001sqb.1_Missense_Mutation_p.P18L|CYP27B1_uc001sqc.1_Missense_Mutation_p.P18L			O15528	CP27B_HUMAN	Homo sapiens vitamin D 1-alpha-hydroxylase splice variant 1 (CYP27B1) mRNA, partial sequence, alternatively spliced.	0					G1 to G0 transition|bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	AGGAGACTGCGGAGCCTTTGC	0.672000											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	14					0	0	1	0	0
KCNJ10	3766	broad.mit.edu	37	1	160011538	160011538	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr1:160011538G>A	uc001fuw.2	-	1	1025	c.785C>T	c.(784-786)aCc>aTc	p.T262I		NM_002241	NP_002232	P78508	IRK10_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA.	262						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAGGGACTGGTCTCATCTAC	0.522000													5	111					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36275140	36275140	+	Silent	SNP	G	G	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr19:36275140G>A	uc002obs.2	+	15	1632	c.1488G>A	c.(1486-1488)tcG>tcA	p.S496S	ARHGAP33_uc002obr.2_Silent_p.S496S|ARHGAP33_uc002obt.2_Silent_p.S360S|ARHGAP33_uc002obv.1_Silent_p.S84S	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	496	Rho-GAP.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GGGTGCAGTCGGTGGTGGTGG	0.672000													55	109					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30694423	30694423	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr8:30694423C>T	uc003xil.3	-	2	8228	c.8228G>A	c.(8227-8229)cGg>cAg	p.R2743Q		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2743										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATTGGCTGCCGAAAATTAGA	0.408000													6	138					0	0	1	0	0
IL17RC	84818	broad.mit.edu	37	3	9962224	9962224	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr3:9962224G>A	uc003bua.3	+	5	946	c.728G>A	c.(727-729)cGa>cAa	p.R243Q	CIDEC_uc003bto.3_Intron|IL17RC_uc010hcr.3_Non-coding_Transcript|IL17RC_uc011ato.2_Non-coding_Transcript|IL17RC_uc010hcs.3_Missense_Mutation_p.R147Q|IL17RC_uc003btz.3_Missense_Mutation_p.R172Q|IL17RC_uc011atp.2_Missense_Mutation_p.R43Q|IL17RC_uc003bud.3_5'UTR|IL17RC_uc010hct.3_Missense_Mutation_p.R172Q|IL17RC_uc010hcu.3_Missense_Mutation_p.R172Q|IL17RC_uc003bub.3_Missense_Mutation_p.R172Q|IL17RC_uc010hcv.3_Missense_Mutation_p.R172Q|IL17RC_uc003buc.3_5'UTR|IL17RC_uc011atq.2_Missense_Mutation_p.R172Q	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA.	243						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGTGAGGTACGAATCTGGTCC	0.592000													6	28					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542963	14542963	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr18:14542963C>T	uc010dln.3	-	0	637	c.183G>A	c.(181-183)atG>atA	p.M61I	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	61										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AACACTTGCCCATCTTGCTCC	0.577000													36	316					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151672836	151672836	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr6:151672836G>C	uc011eep.2	+	3	3550	c.3310G>C	c.(3310-3312)Gag>Cag	p.E1104Q	AKAP12_uc003qoe.3_Missense_Mutation_p.E1104Q|AKAP12_uc003qof.3_Missense_Mutation_p.E1006Q|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Missense_Mutation_p.E999Q	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	1104					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGCAAAAACTGAGCCTTTTAC	0.502000													3	51					0	0	1	0	0
LRFN3	79414	broad.mit.edu	37	19	36431457	36431457	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr19:36431457C>G	uc002oco.3	+	1	1582	c.1130C>G	c.(1129-1131)gCt>gGt	p.A377G		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA.	377	Ig-like.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GAGGCCACAGCTGCTGTGGAG	0.662000													8	29					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102072013	102072013	+	Silent	SNP	T	T	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:102072013T>A	uc001tii.3	+	26	3362	c.3222T>A	c.(3220-3222)ccT>ccA	p.P1074P	MYBPC1_uc001tig.3_Silent_p.P1081P|MYBPC1_uc010svr.2_Silent_p.P1056P|MYBPC1_uc010svs.2_Silent_p.P1074P|MYBPC1_uc001tij.3_Silent_p.P1056P|MYBPC1_uc010svt.2_Silent_p.P1044P|MYBPC1_uc010svu.2_Silent_p.P1037P|MYBPC1_uc001tik.3_Silent_p.P1030P|MYBPC1_uc001tih.3_Silent_p.P1081P|MYBPC1_uc010svq.2_Silent_p.P1043P|MYBPC1_uc001til.3_Silent_p.P99P	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	1074	Ig-like C2-type 7.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GAGGAAATCCTAAGGTACCAT	0.398000													53	124					0	0	1	0	0
NSA2	10412	broad.mit.edu	37	5	74069862	74069862	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr5:74069862C>T	uc003kdk.1	+	4	775	c.692C>T	c.(691-693)aCa>aTa	p.T231I		NM_014886	NP_055701	O95478	NSA2_HUMAN	Homo sapiens NSA2 ribosome biogenesis homolog (S. cerevisiae) (NSA2), mRNA.	231					rRNA processing	nucleolus|ribonucleoprotein complex				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						GGCCTTGTGACACAAGGAGGC	0.383000													10	148					0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33840082	33840082	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr18:33840082A>G	uc002kzq.4	+	12	2376	c.2353A>G	c.(2353-2355)Agg>Ggg	p.R785G		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	Homo sapiens molybdenum cofactor sulfurase (MOCOS), mRNA.	785	MOSC.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	Mo-molybdopterin cofactor sulfurase activity|lyase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	CAATGGAAAAAGGGCTTTTGA	0.393000													3	158					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18872504	18872504	+	Missense_Mutation	SNP	G	G	C	rs140550681		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:18872504G>C	uc021qvx.1	-	4	621	c.430C>G	c.(430-432)Cta>Gta	p.L144V	PLCZ1_uc001rdv.4_Missense_Mutation_p.L40V|PLCZ1_uc001rdw.4_Intron|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	144					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTAAACAGTAGACATTCACGT	0.264000													16	40					0	0	1	0	0
POTEM	641455	broad.mit.edu	37	14	20019998	20019998	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr14:20019998T>C	uc001vwc.3	-	0	275	c.223A>G	c.(223-225)Agc>Ggc	p.S75G	POTEM_uc001vwb.3_Non-coding_Transcript	NM_001145442	NP_001138914	A6NI47	POTEM_HUMAN	Homo sapiens POTE ankyrin domain family, member M (POTEM), mRNA.	75								p.S75S(1)		endometrium(4)|kidney(1)|lung(4)	9						CTCTTGCCGCTCCCCCTGCAC	0.587000													5	382					0	0	1	0	0
AL117485	0	broad.mit.edu	37	22	18846025	18846025	+	RNA	SNP	G	G	C	rs5993363		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr22:18846025G>C	uc002zoe.3	+	4		c.2387G>C			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		GACGTTGAAGGCTGCCTTCAG	0.647000													3	111					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10468472	10468472	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr19:10468472C>A	uc002moc.4	-	16	2812	c.2434G>T	c.(2434-2436)Gag>Tag	p.E812*	TYK2_uc010dxe.3_Nonsense_Mutation_p.E627*|TYK2_uc002mod.2_Nonsense_Mutation_p.E812*	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	812	Protein kinase 1.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGAGGGGCCTCTCCGTCAAAG	0.642000													10	21					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142178473	142178473	+	Silent	SNP	G	G	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr8:142178473G>A	uc003yvy.3	+	12	2162	c.1884G>A	c.(1882-1884)ccG>ccA	p.P628P	DENND3_uc010mep.3_Silent_p.P589P|DENND3_uc003yvz.1_Silent_p.P312P	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	628										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGACAAGCCGCACGAGGCCT	0.612000													30	50					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64604565	64604565	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr14:64604565A>C	uc001xgl.3	+	78	14937	c.14707A>C	c.(14707-14709)Aaa>Caa	p.K4903Q	SYNE2_uc001xgm.3_Missense_Mutation_p.K4903Q|SYNE2_uc021ruh.1_Missense_Mutation_p.K4820Q|SYNE2_uc010apy.3_Missense_Mutation_p.K1288Q|SYNE2_uc001xgn.3_5'Flank|SYNE2_uc021rui.1_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4903					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	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)		GAACGAAGGCAAACAGTTGGT	0.408000													28	74					0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153314146	153314146	+	Silent	SNP	G	G	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr1:153314146G>A	uc001fbo.3	-	5	647	c.582C>T	c.(580-582)ggC>ggT	p.G194G	PGLYRP4_uc001fbp.3_Silent_p.G190G	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	194					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.G194S(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCAGTTCTCGCCTTTCCCAA	0.572000													48	123					0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56762964	56762964	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr4:56762964G>C	uc003hbe.1	+	15	2193	c.2035G>C	c.(2035-2037)Gaa>Caa	p.E679Q	EXOC1_uc003hbf.1_Missense_Mutation_p.E679Q|EXOC1_uc003hbg.1_Missense_Mutation_p.E664Q	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	Homo sapiens exocyst complex component 1 (EXOC1), transcript variant 1, mRNA.	679					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TGCTGAATTTGAAGAATTTGC	0.368000													3	63					0	0	1	0	0
TSSK2	23617	broad.mit.edu	37	22	19119476	19119476	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr22:19119476G>C	uc002zow.2	+	0	1156	c.564G>C	c.(562-564)caG>caC	p.Q188H	DGCR14_uc002zou.3_3'UTR	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN	Homo sapiens testis-specific serine kinase 2 (TSSK2), mRNA.	188	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					AGGTGCTGCAGAGCATCCCCT	0.602000													34	96					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32089285	32089285	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr5:32089285A>G	uc003jhl.3	+	19	6119	c.5731A>G	c.(5731-5733)Acg>Gcg	p.T1911A	PDZD2_uc003jhm.3_Missense_Mutation_p.T1911A	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1911					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGCTGGGGGGACGGACCACAG	0.582000													4	99					0	0	1	0	0
SSH2	85464	broad.mit.edu	37	17	27963805	27963805	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr17:27963805G>T	uc002heo.1	-	13	1362	c.1362C>A	c.(1360-1362)aaC>aaA	p.N454K	SSH2_uc010wbh.1_Missense_Mutation_p.N481K	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	454					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCATAGTTTGTTATGCCGCT	0.448000													12	142					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37017250	37017250	+	Missense_Mutation	SNP	C	C	G	rs149451089		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr5:37017250C>G	uc003jkl.4	+	23	5405	c.4906C>G	c.(4906-4908)Cgc>Ggc	p.R1636G	NIPBL_uc003jkk.4_Missense_Mutation_p.R1636G	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	1636					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.E1635K(1)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATCTATAGAACGCATTTTAAA	0.333000													8	34					0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170667405	170667405	+	Splice_Site	SNP	A	A	T			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr6:170667405A>T	uc003qxp.3	+	6	2391	c.2283_splice	c.e6+1	p.Q761_splice	FAM120B_uc003qxo.1_Splice_Site_p.Q761_splice|FAM120B_uc011ehd.2_Splice_Site_p.Q93_splice|FAM120B_uc010kla.1_Non-coding_Transcript	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	Homo sapiens family with sequence similarity 120B (FAM120B), mRNA.	761					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GTAAATCTACAGGTACAGACG	0.493000													5	17					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58384331	58384331	+	Silent	SNP	A	A	G			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr19:58384331A>G	uc002qqo.2	-	2	2699	c.2427T>C	c.(2425-2427)ttT>ttC	p.F809F	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	809					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AGCTTTCAGCAAAAGATTTTC	0.383000													3	36					0	0	1	0	0
SACM1L	22908	broad.mit.edu	37	3	45745007	45745007	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr3:45745007C>A	uc003cos.2	+	1	314	c.110C>A	c.(109-111)tCc>tAc	p.S37Y	SACM1L_uc011bag.1_5'UTR|SACM1L_uc011bah.1_Missense_Mutation_p.P14T	NM_014016	NP_054735	Q9NTJ5	SAC1_HUMAN	Homo sapiens SAC1 suppressor of actin mutations 1-like (yeast) (SACM1L), mRNA.	37						Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GACCGTGTGTCCACAGAGGTT	0.353000													36	71					0	0	1	0	0
BCL10	8915	broad.mit.edu	37	1	85736511	85736511	+	Frame_Shift_Del	DEL	T	-	-			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr1:85736511delT	uc021opd.1	-	1	688	c.136delA	c.(136-138)atafs	p.I46fs		NM_003921	NP_003912	O95999	BCL10_HUMAN	Homo sapiens B-cell CLL/lymphoma 10 (BCL10), mRNA.	46	CARD.				T cell receptor signaling pathway|apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	p.I46fs*4(2)		haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		CTACTGAGTATTTTTTTTGCA	0.343			T	IGH@	MALT								8	123	---	---	---	---					
GOLIM4	27333	broad.mit.edu	37	3	167747642	167747644	+	In_Frame_Del	DEL	CTG	-	-	rs61743912	byFrequency	TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr3:167747642_167747644delCTG	uc011bpe.1	-	9	1701_1703	c.1357_1359delCAG	c.(1357-1359)cagdel	p.Q453del	GOLIM4_uc003ffe.2_In_Frame_Del_p.Q453del|GOLIM4_uc011bpf.1_In_Frame_Del_p.Q425del|GOLIM4_uc011bpg.1_In_Frame_Del_p.Q425del	NM_014498	NP_055313	O00461	GOLI4_HUMAN	Homo sapiens golgi integral membrane protein 4 (GOLIM4), mRNA.	453	Gln-rich.|Glu-rich.				transport	Golgi cisterna membrane|Golgi lumen|cis-Golgi network|endocytic vesicle|endosome membrane|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCTTGCCACctgctgctgctgc	0.640													7	66	---	---	---	---					
TFAM	7019	broad.mit.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	-	-	rs78912196		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr10:60148570delA	uc001jkf.3	+	3	564	c.432delA	c.(430-432)acafs	p.T144fs	TFAM_uc001jkg.3_Non-coding_Transcript	NM_003201	NP_003192	Q00059	TFAM_HUMAN	Homo sapiens transcription factor A, mitochondrial (TFAM), nuclear gene encoding mitochondrial protein, mRNA.	144					DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity	p.M143I(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGCTATGACAAAAAAAAAAG	0.269													8	93	---	---	---	---					
PTEN	5728	broad.mit.edu	37	10	89717713	89717715	+	In_Frame_Del	DEL	GTT	-	-			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr10:89717713_89717715delGTT	uc001kfb.3	+	6	1770_1772	c.738_740delGTT	c.(736-741)ccgtta>cca	p.L247del	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	247	C2 tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.P246L(8)|p.P246fs*10(6)|p.R55fs*1(5)|p.L247*(5)|p.L247fs*10(4)|p.P246fs*3(2)|p.P246fs*11(2)|p.L247L(2)|p.L247fs*11(2)|p.L247fs*12(2)|p.N212fs*1(2)|p.P246_L247insGP(2)|p.L247fs*6(2)|p.L247fs*4(2)|p.L247fs*5(2)|p.L247fs*8(2)|p.Y27fs*1(2)|p.P246fs*9(1)|p.L247F(1)|p.P246fs*14(1)|p.P246fs*12(1)|p.?(1)|p.F243fs*9(1)|p.G165_K342del(1)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCCCTCAGCCGTTACCTGTGTGT	0.409		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			28	89	---	---	---	---					
LZTS2	84445	broad.mit.edu	37	10	102763415	102763417	+	In_Frame_Del	DEL	CCT	-	-			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr10:102763415_102763417delCCT	uc001ksj.3	+	2	730_732	c.560_562delCCT	c.(559-564)gcctcc>gcc	p.S197del	LZTS2_uc010qpw.2_In_Frame_Del_p.S197del|LZTS2_uc001ksk.3_In_Frame_Del_p.S197del|LZTS2_uc001ksl.3_In_Frame_Del_p.S197del|LZTS2_uc001ksm.3_Non-coding_Transcript	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA.	197	Required for centrosomal localization (By similarity).|Ser-rich.				Wnt receptor signaling pathway|cell division|mitosis	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGGGGCCCTGcctcctcctcctc	0.650													9	267	---	---	---	---					
KRT18	3875	broad.mit.edu	37	12	53344130	53344156	+	In_Frame_Del	DEL	GACAATGCCCGCATCGTTCTGCAGATT	-	-	rs59979366	byFrequency	TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:53344130_53344156delGACAATGCCCGCATCGTTCTGCAGATT	uc001sbe.3	+	2	505_531	c.436_462delGACAATGCCCGCATCGTTCTGCAGATT	c.(436-462)gacaatgcccgcatcgttctgcagattdel	p.DNARIVLQI146del	KRT18_uc009zmn.2_In_Frame_Del_p.DNARIVLQI146del|KRT18_uc001sbg.3_In_Frame_Del_p.DNARIVLQI146del|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	NM_199187	NP_954657	P05783	K1C18_HUMAN	Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.	146	Coil 1B.|Necessary for interaction with PNN.|Rod.				Golgi to plasma membrane CFTR protein transport|anatomical structure morphogenesis|cell cycle|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						AAATACTGTGGACAATGCCCGCATCGTTCTGCAGATTGACAATGCCC	0.498													7	759	---	---	---	---					
SOX9	6662	broad.mit.edu	37	17	70120224	70120226	+	In_Frame_Del	DEL	AGC	-	-			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr17:70120224_70120226delAGC	uc002jiw.3	+	2	1598_1600	c.1226_1228delAGC	c.(1225-1230)gagcag>gag	p.Q412del		NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	412					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CACTACAGCGAGCAGCAGCAGCA	0.650													8	277	---	---	---	---					
CHIC1	53344	broad.mit.edu	37	X	72783280	72783282	+	In_Frame_Del	DEL	GAG	-	-			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chrX:72783280_72783282delGAG	uc004ebk.4	+	0	297_299	c.160_162delGAG	c.(160-162)gagdel	p.E68del	MAP2K4P1_uc022bza.1_5'Flank|CHIC1_uc010nlo.3_Non-coding_Transcript|CHIC1_uc004ebl.4_In_Frame_Del_p.E68del|CHIC1_uc011mql.2_In_Frame_Del_p.E68del	NM_001039840	NP_001034929	Q5VXU3	CHIC1_HUMAN	Homo sapiens cysteine-rich hydrophobic domain 1 (CHIC1), mRNA.	68	Poly-Glu.					cytoplasmic membrane-bounded vesicle|plasma membrane				endometrium(1)|large_intestine(1)|lung(2)	4	Renal(35;0.156)					agaggaggaagaggaggaggagg	0.635													4	4	---	---	---	---					
PDZD4	57595	broad.mit.edu	37	X	153072793	153072793	+	Frame_Shift_Del	DEL	C	-	-			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chrX:153072793delC	uc004fja.1	-	2	596	c.346delG	c.(346-348)gcgfs	p.A116fs	PDZD4_uc004fiy.1_Frame_Shift_Del_p.A35fs|PDZD4_uc004fiz.1_Frame_Shift_Del_p.A110fs|PDZD4_uc004fix.2_Frame_Shift_Del_p.A14fs|PDZD4_uc011mze.1_Intron	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	110						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATAAACTCCGCCGGGTCATAA	0.667													9	18	---	---	---	---					
