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
CKAP5	9793	broad.mit.edu	37	11	46772926	46772926	+	Silent	SNP	T	T	C			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:46772926T>C	uc001ndi.2	-	38	5418	c.5292A>G	c.(5290-5292)ctA>ctG	p.L1764L	CKAP5_uc009ylg.1_Silent_p.L1650L|CKAP5_uc001ndj.2_Silent_p.L1704L|CKAP5_uc001ndh.1_Silent_p.L693L	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	1764					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding	p.L1763M(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ATAAGGTGTGTAGCAGGGTCT	0.428000													37	73					0	0	1	0	0
IKZF5	64376	broad.mit.edu	37	10	124755532	124755532	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr10:124755532A>C	uc001lha.2	-	3	593	c.294T>G	c.(292-294)atT>atG	p.I98M	AK023288_uc021qaj.1_5'Flank	NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN	Homo sapiens IKAROS family zinc finger 5 (Pegasus) (IKZF5), mRNA.	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		TGATGTGTTCAATAAGCCGGG	0.483000													5	80					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	T	rs121912656		TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr17:7577547C>T	uc002gim.2	-	6	928	c.734G>A	c.(733-735)gGc>gAc	p.G245D	TP53_uc002gig.1_Missense_Mutation_p.G245D|TP53_uc002gih.3_Missense_Mutation_p.G245D|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G113D|TP53_uc010cnf.1_Missense_Mutation_p.G113D|TP53_uc002gii.1_Missense_Mutation_p.G113D|TP53_uc010cni.1_Missense_Mutation_p.G245D|TP53_uc010cnh.1_Missense_Mutation_p.G245D|TP53_uc002gij.2_Missense_Mutation_p.G245D|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G152D|TP53_uc002gio.2_Missense_Mutation_p.G113D|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(296)|p.G245D(203)|p.G245V(124)|p.G245C(51)|p.G244D(42)|p.G244C(37)|p.G244S(37)|p.G245A(16)|p.G244V(14)|p.G244G(13)|p.G245R(10)|p.G244A(9)|p.0?(8)|p.G244fs*3(5)|p.?(5)|p.G245N(4)|p.G244_M246>V(4)|p.G245fs*2(4)|p.G152V(4)|p.G244R(4)|p.G245G(3)|p.G152D(3)|p.G245H(2)|p.G245L(2)|p.G244fs*17(2)|p.G245F(2)|p.G245E(2)|p.C242_M246>L(2)|p.S241_G245delSCMGG(2)|p.C238_M246delCNSSCMGGM(2)|p.G245del(2)|p.G245fs*14(2)|p.G245fs*17(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245fs*22(1)|p.G244fs*4(1)|p.G244fs*19(1)|p.C242fs*98(1)|p.G244del(1)|p.M243fs*18(1)|p.M243_G244>IC(1)|p.G244E(1)|p.G151_M153>V(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)		CCGGTTCATGCCGCCCATGCA	0.582000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			4	81					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31066220	31066220	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr21:31066220C>T	uc002yno.1	-	1	745	c.281G>A	c.(280-282)cGg>cAg	p.R94Q	GRIK1_uc002ynn.3_Missense_Mutation_p.R94Q|GRIK1_uc011acs.2_Missense_Mutation_p.R94Q|GRIK1_uc011act.2_Intron|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.3_Missense_Mutation_p.R94Q	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	94					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GTTACCTCTCCGCGAGGCTTC	0.433000													24	52					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154744824	154744824	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr1:154744824T>C	uc021pah.1	-	2	1389	c.1075A>G	c.(1075-1077)Acc>Gcc	p.T359A	KCNN3_uc001ffo.3_Missense_Mutation_p.T54A|KCNN3_uc001ffp.3_Missense_Mutation_p.T359A|KCNN3_uc009wox.1_Missense_Mutation_p.T359A	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	364						integral to membrane	calmodulin binding	p.M358I(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			CGCTCGTAGGTCATGGCTATC	0.592000													9	30					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1418725	1418725	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr3:1418725G>A	uc003boz.3	+	16	2399	c.2132G>A	c.(2131-2133)gGa>gAa	p.G711E	CNTN6_uc011asj.2_Missense_Mutation_p.G639E|CNTN6_uc003bpa.3_Missense_Mutation_p.G711E	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	711	Fibronectin type-III 2.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CATGGAGGTGGAGGAAGTCGG	0.398000													23	59					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155241971	155241971	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr4:155241971G>A	uc003inw.2	-	13	3215	c.3215C>T	c.(3214-3216)aCc>aTc	p.T1072I		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1072	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATACACCAGGGTTCCTATGGG	0.428000													30	56					0	0	1	0	0
GCNT4	51301	broad.mit.edu	37	5	74325284	74325284	+	Silent	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr5:74325284C>T	uc003kdn.3	-	0	1441	c.579G>A	c.(577-579)gaG>gaA	p.E193E		NM_016591	NP_057675	Q9P109	GCNT4_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 4, core 2 (GCNT4), mRNA.	193					protein O-linked glycosylation	Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		ATTCCACAGCCTCTAATTTGG	0.398000													22	62					0	0	1	0	0
WDR19	57728	broad.mit.edu	37	4	39230260	39230260	+	Silent	SNP	G	G	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr4:39230260G>T	uc003gtv.3	+	16	2086	c.1932G>T	c.(1930-1932)acG>acT	p.T644T	WDR19_uc011byi.2_Silent_p.T484T|WDR19_uc003gtw.1_Silent_p.T241T	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	Homo sapiens WD repeat domain 19 (WDR19), mRNA.	644					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TAAAAGATACGGGGCCTGACG	0.423000													6	79					0	0	1	0	0
SLC16A2	6567	broad.mit.edu	37	X	73740921	73740921	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chrX:73740921C>T	uc004ebt.2	+	1	915	c.749C>T	c.(748-750)gCg>gTg	p.A250V		NM_006517	NP_006508	P36021	MOT8_HUMAN	Homo sapiens solute carrier family 16, member 2 (monocarboxylic acid transporter 8) (SLC16A2), mRNA.	176						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	ACAGCAACCGCGGGGGCTGCC	0.532000													23	14					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31986568	31986568	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chrX:31986568C>G	uc004dda.1	-	44	6746	c.6502G>C	c.(6502-6504)Gaa>Caa	p.E2168Q	DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.E824Q|DMD_uc004dcx.2_Missense_Mutation_p.E827Q|DMD_uc004dcz.2_Missense_Mutation_p.E2045Q|DMD_uc004dcy.1_Missense_Mutation_p.E2164Q|DMD_uc004ddb.1_Missense_Mutation_p.E2160Q|DMD_uc010ngo.1_Missense_Mutation_p.E77Q|DMD_uc010ngn.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2168					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGAATTATTTCTTCCCCAGTT	0.448000													12	26					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21501019	21501019	+	Splice_Site	SNP	G	G	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr18:21501019G>T	uc002kuq.3	+	61	8129	c.8043_splice	c.e61+1	p.S2681_splice	LAMA3_uc002kur.3_Splice_Site_p.S2625_splice|LAMA3_uc002kus.4_Splice_Site_p.S1072_splice|LAMA3_uc002kut.4_Splice_Site_p.S1016_splice	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2681	Laminin G-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGACCATTCGGTACACCTTTT	0.388000													9	17					0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120438879	120438879	+	Silent	SNP	G	G	A			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr1:120438879G>A	uc001eij.3	-	0	269	c.81C>T	c.(79-81)ggC>ggT	p.G27G		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	27					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTACATCTTCGCCAAGAGACT	0.512000													19	40					0	0	1	0	0
ZNF628	89887	broad.mit.edu	37	19	55995366	55995366	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr19:55995366G>A	uc021vbv.1	+	0	2794	c.2794G>A	c.(2794-2796)Gtg>Atg	p.V932M	ZNF628_uc002qld.2_Missense_Mutation_p.V932M|NAT14_uc002qle.2_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	Homo sapiens zinc finger protein 628 (ZNF628), mRNA.	932						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CTTGCAGAGCGTGCTGGTGCT	0.677000													6	17					0	0	1	0	0
C17orf53	78995	broad.mit.edu	37	17	42226166	42226166	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr17:42226166C>G	uc002ifi.2	+	2	1232	c.995C>G	c.(994-996)tCt>tGt	p.S332C	C17orf53_uc010czq.2_Missense_Mutation_p.S332C|C17orf53_uc002ifj.2_Missense_Mutation_p.S332C|C17orf53_uc002ifk.1_Non-coding_Transcript	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	Homo sapiens chromosome 17 open reading frame 53 (C17orf53), transcript variant 1, mRNA.	332										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGGACTAGCTCTGGATTATTT	0.517000													93	180					0	0	1	0	0
ELOVL3	83401	broad.mit.edu	37	10	103988611	103988611	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr10:103988611C>T	uc001kut.3	+	3	578	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W		NM_152310	NP_689523	Q9HB03	ELOV3_HUMAN	Homo sapiens ELOVL fatty acid elongase 3 (ELOVL3), mRNA.	139					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.R139W(2)		breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		CCTGCGTAAGCGGCCACTCAT	0.537000													36	91					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148037365	148037365	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chrX:148037365G>A	uc004fcp.3	+	10	2269	c.1790G>A	c.(1789-1791)cGt>cAt	p.R597H	AFF2_uc004fcq.3_Missense_Mutation_p.R587H|AFF2_uc004fcr.3_Missense_Mutation_p.R558H|AFF2_uc011mxb.2_Missense_Mutation_p.R562H|AFF2_uc004fcs.3_Missense_Mutation_p.R564H|AFF2_uc011mxc.2_Missense_Mutation_p.R238H	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	597					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.R597H(4)|p.R238H(1)|p.R597C(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAAAGCCCGTCCACGGCCC	0.468000													55	23					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16456043	16456043	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr1:16456043A>C	uc001aya.2	-	15	2866	c.2711T>G	c.(2710-2712)gTg>gGg	p.V904G		NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	904	Mediates interaction with ARHGEF16 and ELMO2.|Negatively regulates interaction with ARHGEF16.|SAM.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GCGGAAGGGCACCCCCTCCGA	0.652000													11	57					0	0	1	0	0
KIF2C	11004	broad.mit.edu	37	1	45225999	45225999	+	Missense_Mutation	SNP	C	C	T	rs150935880		TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr1:45225999C>T	uc001cmg.4	+	14	1530	c.1415C>T	c.(1414-1416)gCg>gTg	p.A472V	KIF2C_uc010olb.2_Missense_Mutation_p.A431V|KIF2C_uc010olc.2_Missense_Mutation_p.A359V|KIF2C_uc001cmh.4_Missense_Mutation_p.A418V	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	Homo sapiens kinesin family member 2C (KIF2C), mRNA.	472	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					CGCTCCCACGCGTGCTTCCAA	0.527000													20	49					0	0	1	0	0
PTPN9	5780	broad.mit.edu	37	15	75816566	75816566	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr15:75816566C>T	uc002bal.3	-	2	789	c.281G>A	c.(280-282)gGa>gAa	p.G94E		NM_002833	NP_002824	P43378	PTN9_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA.	94	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGTGAATTTTCCACTGAGGAT	0.388000													3	37					0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26818588	26818588	+	Silent	SNP	G	G	A			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr17:26818588G>A	uc010wan.2	+	4	922	c.855G>A	c.(853-855)acG>acA	p.T285T	SLC13A2_uc010wal.1_Silent_p.T193T|SLC13A2_uc010wam.2_Silent_p.T192T|SLC13A2_uc002hbh.3_Silent_p.T236T|SLC13A2_uc010wao.2_Silent_p.T193T|SLC13A2_uc002hbi.3_Silent_p.T165T	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	236						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GCATCGCCACGCTGACTGGCA	0.627000													66	93					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	630970	630970	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr16:630970C>T	uc002cho.3	+	8	1667	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V	PIGQ_uc010bqw.3_Missense_Mutation_p.A510V|PIGQ_uc002chn.3_Missense_Mutation_p.A510V|PIGQ_uc010uui.2_Missense_Mutation_p.A524V|PIGQ_uc002chp.3_5'Flank	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	510	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TACAGGCTGGCGGGTAAGTGC	0.647000													63	156					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159654482	159654482	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr6:159654482C>T	uc010kjv.3	+	10	3138	c.2938C>T	c.(2938-2940)Cgt>Tgt	p.R980C	FNDC1_uc010kjw.1_Missense_Mutation_p.R865C	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	980						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GTCCCCTGCTCGTCCGCCCGC	0.662000													8	24					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558307	106558307	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:106558307C>T	uc009yxn.1	-	8	2650	c.2260G>A	c.(2260-2262)Ggc>Agc	p.G754S	GUCY1A2_uc001pjg.1_Missense_Mutation_p.G723S|GUCY1A2_uc010rvo.1_Missense_Mutation_p.G744S	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	723					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AACATGGTGCCGATGTTGTAG	0.498000													30	73					0	0	1	0	0
HSPA8	3312	broad.mit.edu	37	11	122929413	122929413	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:122929413A>C	uc001pyo.3	-	6	1584	c.1449T>G	c.(1447-1449)aaT>aaG	p.N483K	HSPA8_uc009zbc.3_Missense_Mutation_p.N247K|HSPA8_uc001pyp.3_Intron|HSPA8_uc010rzu.2_Missense_Mutation_p.N406K	NM_006597	NP_006588	P11142	HSP7C_HUMAN	Homo sapiens heat shock 70kDa protein 8 (HSPA8), transcript variant 1, mRNA.	483					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGAGTATACCATTGGCATCAA	0.453000													25	55					0	0	1	0	0
AK308867	0	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	A	C			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr16:70268158A>C	uc010cfp.1	-	2		c.257T>G								Homo sapiens cDNA, FLJ98908.																		TTCTTCATTAAAACAGCTACT	0.333000													2	5					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35763246	35763246	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr3:35763246C>T	uc011axy.2	+	11	1255	c.1043C>T	c.(1042-1044)gCg>gTg	p.A348V	ARPP21_uc003cga.3_Missense_Mutation_p.A328V|ARPP21_uc003cgb.3_Missense_Mutation_p.A382V|ARPP21_uc003cgf.3_Missense_Mutation_p.A183V|ARPP21_uc003cgg.3_5'UTR	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	382	Ser-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ACCAAGACGGCGAGTTTTGGG	0.537000													6	29					0	0	1	0	0
LOC729513	729513	broad.mit.edu	37	16	70253871	70253871	+	RNA	SNP	A	A	G			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr16:70253871A>G	uc002eyl.1	-	4		c.1620T>C								Homo sapiens SMG1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) pseudogene (LOC729513), non-coding RNA.																		GTAAAGCTTCACCGAAGAGTG	0.388000													2	8					0	0	1	0	0
TAAR5	9038	broad.mit.edu	37	6	132910431	132910431	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr6:132910431C>T	uc003qdk.2	-	0	447	c.395G>A	c.(394-396)cGc>cAc	p.R132H		NM_003967	NP_003958	O14804	TAAR5_HUMAN	Homo sapiens trace amine associated receptor 5 (TAAR5), mRNA.	132					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GGCACAGTGGCGGTCAATGGA	0.582000													33	99					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134967232	134967232	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr3:134967232G>T	uc003eqt.3	+	13	2946	c.2571G>T	c.(2569-2571)atG>atT	p.M857I	EPHB1_uc003equ.3_Missense_Mutation_p.M418I	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	857	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.L856L(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ACCAGCTCATGCTGGACTGTT	0.577000													37	76					0	0	1	0	0
SLC24A6	80024	broad.mit.edu	37	12	113758894	113758894	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr12:113758894A>T	uc001tvc.3	-	3	539	c.329T>A	c.(328-330)cTg>cAg	p.L110Q	SLC24A6_uc001tvd.1_Missense_Mutation_p.L110Q|SLC24A6_uc001tuz.3_5'Flank|SLC24A6_uc001tva.3_5'Flank|SLC24A6_uc001tvb.3_5'Flank	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	110					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						AATCAGAAACAGGTAGAGCAG	0.622000													20	55					0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117241960	117241960	+	Silent	SNP	T	T	C			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:117241960T>C	uc001prc.3	+	8	1077	c.930T>C	c.(928-930)ctT>ctC	p.L310L	CEP164_uc001prb.3_Silent_p.L310L|CEP164_uc010rxk.1_Silent_p.L284L|CEP164_uc001prf.3_Non-coding_Transcript|CEP164_uc009yzp.1_Non-coding_Transcript	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	310					DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GACCTGGTCTTCCAGAAAAAG	0.562000													51	95					0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143614732	143614732	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr8:143614732G>A	uc003ywm.3	+	23	3658	c.3475G>A	c.(3475-3477)Gac>Aac	p.D1159N		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	1159					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)					CGCCGTCACCGACCGCCGCTC	0.657000													10	32					0	0	1	0	0
VGLL4	9686	broad.mit.edu	37	3	11744471	11744471	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr3:11744471G>T	uc003bwf.2	-	1	404	c.38C>A	c.(37-39)tCt>tAt	p.S13Y	VGLL4_uc003bwg.2_5'UTR	NM_014667	NP_055482	Q14135	VGLL4_HUMAN	Homo sapiens vestigial like 4 (Drosophila) (VGLL4), transcript variant 2, mRNA.	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S13F(2)		NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		ATGCACCAGAGATGCTGCCCT	0.373000													3	18					0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495508	6495508	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr19:6495508C>G	uc002mfg.1	-	3	1109	c.1002G>C	c.(1000-1002)caG>caC	p.Q334H	TUBB4A_uc002mff.1_Missense_Mutation_p.Q262H|JA429441_uc021unq.1_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA.	334					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										TGTTCTTGCTCTGCACGCTCA	0.667000													154	286					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153222853	153222853	+	Silent	SNP	G	G	A			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chrX:153222853G>A	uc004fjp.3	-	12	2793	c.2265C>T	c.(2263-2265)agC>agT	p.S755S		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	755	Interaction with ZBTB17.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGGGGAGACGCTGCTGATGC	0.647000													100	46					0	0	1	0	0
GAB2	9846	broad.mit.edu	37	11	77937837	77937837	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:77937837G>T	uc001ozh.3	-	3	983	c.881C>A	c.(880-882)aCc>aAc	p.T294N	GAB2_uc001ozg.3_Missense_Mutation_p.T256N	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA.	294					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CGTCTTGAAGGTGTACACATC	0.592000													8	79					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	A	G	rs2257765		TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000													3	37					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35237515	35237515	+	Silent	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr21:35237515C>T	uc002yta.1	+	31	4219	c.3951C>T	c.(3949-3951)gaC>gaT	p.D1317D	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Silent_p.D1312D|ITSN1_uc002ytj.2_Silent_p.D1312D|ITSN1_uc010gmm.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1317	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGATTGGAGACATCCTGAGCG	0.617000													7	26					0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42192031	42192031	+	Splice_Site	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr19:42192031C>T	uc002ori.1	-	1	66	c.64_splice	c.e1+1	p.A22_splice	CEACAM7_uc010ehx.2_Splice_Site_p.A22_splice|CEACAM7_uc010ehy.1_Splice_Site_p.A22_splice	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.	22						anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CTCCCCTCACCTGTGAGCAGG	0.632000													21	49					0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87451066	87451066	+	Splice_Site	SNP	C	C	G			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr16:87451066C>G	uc002fjz.1	-	8	999	c.972_splice	c.e8+1	p.K324_splice	ZCCHC14_uc002fka.1_Splice_Site|ZCCHC14_uc002fkb.3_Splice_Site_p.K100_splice	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	324					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		ACCGACATACCTTCTCCATGG	0.493000											OREG0024030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	64	140					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56426236	56426236	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr6:56426236T>C	uc003pcy.4	-	37	6419	c.6311A>G	c.(6310-6312)cAa>cGa	p.Q2104R		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	4516					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	Z disc|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	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein 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)			CTGAGCCTTTTGCAATTTGGA	0.398000													4	46					0	0	1	0	0
FAM86HP	729375	broad.mit.edu	37	3	129817239	129817239	+	RNA	SNP	C	C	G	rs142691368	by1000genomes	TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr3:129817239C>G	uc003ene.2	-	2		c.1272G>C			FAM86HP_uc011ble.1_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member H, pseudogene (FAM86HP), non-coding RNA.																		CCCCAGGGCCCCTGCTGTCCT	0.587000													4	32					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245850131	245850131	+	Silent	SNP	G	G	A			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr1:245850131G>A	uc001ibf.1	+	11	4286	c.3846G>A	c.(3844-3846)ctG>ctA	p.L1282L	KIF26B_uc001ibg.1_Silent_p.L900L|KIF26B_uc001ibh.1_Silent_p.L524L	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	1282					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCTCCTGGCTGAGCGAGATGA	0.612000													12	35					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69536088	69536088	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr4:69536088T>A	uc021xow.1	-	0	407	c.249A>T	c.(247-249)aaA>aaT	p.K83N		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	83					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CCAAATAATTTTTAGTTAAAG	0.308000													31	81					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455386	84455386	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr13:84455386C>G	uc001vlk.3	-	0	1143	c.257G>C	c.(256-258)aGt>aCt	p.S86T		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	86						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CATGTGCAAACTAACCGCATT	0.453000													29	44					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160035657	160035657	+	Silent	SNP	C	C	G			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr2:160035657C>G	uc002uag.3	+	13	2767	c.2493C>G	c.(2491-2493)gcC>gcG	p.A831A	TANC1_uc010fol.1_Silent_p.A725A|TANC1_uc010zcm.2_Silent_p.A823A|TANC1_uc010fom.1_Silent_p.A637A	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	831						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AAAACACGGCCTTCCTGTGTG	0.537000													46	77					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16975947	16975947	+	RNA	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr1:16975947C>T	uc010och.2	+	10		c.1969C>T			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		AGAGCCAGGCCTACAGCGGGT	0.577000													4	70					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3299765	3299765	+	Missense_Mutation	SNP	G	G	A	rs104895155	byFrequency	TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr16:3299765G>A	uc002cun.1	-	2	966	c.926C>T	c.(925-927)aCg>aTg	p.T309M	MEFV_uc021tbw.1_Missense_Mutation_p.T98M|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Intron|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	309					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	ACTCGCAGCCGTGTCTGGTGG	0.602000													7	38					0	0	1	0	0
CAMK1	8536	broad.mit.edu	37	3	9799263	9799263	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr3:9799263G>A	uc003bst.3	-	11	1258	c.1073C>T	c.(1072-1074)cCg>cTg	p.P358L	OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_Missense_Mutation_p.R168W	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.	358					cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		TTCTGTGCCCGGCTCCACGCA	0.692000													7	102					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2685	2685	+	Splice_Site	SNP	G	G	C			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chrGL000237.1:2685G>C	uc011mgu.1	-	1		c.1_splice	c.e1-1							Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		ccctaaactggcatgaggcct	0.557000													2	2					0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142459777	142459778	+	Frame_Shift_Ins	INS	-	A	A	rs144781370	by1000genomes	TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr8:142459777_142459778insA	uc003ywi.2	-	19	2630_2631	c.2549_2550insT	c.(2548-2550)ctgfs	p.L850fs	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	850							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GCAGACAGGCCAGCAGTGTGGT	0.678													4	3	---	---	---	---					
ACTN3	89	broad.mit.edu	37	11	66326857	66326859	+	Splice_Site	DEL	AGT	-	-			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:66326857_66326859delAGT	uc021qma.1	+	2	194	c.-319_splice	c.e2+1		ACTN3_uc021qlz.1_Splice_Site			Q08043	ACTN3_HUMAN	Homo sapiens actinin, alpha 3 (ACTN3), mRNA.						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						CAGGAGCTCAAGTAggcggggcc	0.729													7	16	---	---	---	---					
ARID3A	1820	broad.mit.edu	37	19	932529	932529	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr19:932529delC	uc002lql.3	+	2	770	c.480delC	c.(478-480)ggcfs	p.G160fs		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	Homo sapiens AT rich interactive domain 3A (BRIGHT-like) (ARID3A), mRNA.	160						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		aggGGCTGGGCCCCCCAGGCC	0.692													6	10	---	---	---	---					
MAPRE1	22919	broad.mit.edu	37	20	31421540	31421540	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr20:31421540delT	uc002wyh.3	+	2	278	c.139delT	c.(139-141)tttfs	p.F47fs		NM_012325	NP_036457	Q15691	MARE1_HUMAN	Homo sapiens microtubule-associated protein, RP/EB family, member 1 (MAPRE1), mRNA.	47	CH.				G2/M transition of mitotic cell cycle|cell division|cell proliferation|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						GTATTGTCAGTTTATGGACAT	0.413													27	48	---	---	---	---					
RPS6KA6	27330	broad.mit.edu	37	X	83411191	83411194	+	Frame_Shift_Del	DEL	TCCT	-	-			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chrX:83411191_83411194delTCCT	uc004eej.2	-	2	183_186	c.147_150delAGGA	c.(145-150)gaaggafs	p.E49fs	RPS6KA6_uc011mqt.2_Frame_Shift_Del_p.E49fs|RPS6KA6_uc011mqu.2_5'UTR|RPS6KA6_uc010nmo.1_Non-coding_Transcript	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	49					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CTTTAACAACTCCTTCATCCTGTA	0.358													4	8	---	---	---	---					
