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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
C12orf12	196477	broad.mit.edu	37	12	91347873	91347873	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr12:91347873G>A	uc001tbj.3	-	0	1081	c.647C>T	c.(646-648)gCg>gTg	p.A216V		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	216								p.A216A(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						GGCCTTCTGCGCCCGCAGCGC	0.647000														109			4		0	0	0.009096	0	0
AP1S1	1174	broad.mit.edu	37	7	100799992	100799992	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr7:100799992G>C	uc003uxv.4	+	1	231	c.121G>C	c.(121-123)Gct>Cct	p.A41P	MIR4653_uc022aiy.1_5'Flank	NM_001283	NP_001274	P61966	AP1S1_HUMAN	Homo sapiens adaptor-related protein complex 1, sigma 1 subunit (AP1S1), mRNA.	41					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GGTTGTCCTGGCTCGAAAGCC	0.537000														17			4		0	0	0.014758	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163191	163191	+	RNA	SNP	C	T	T	rs147223236	by1000genomes	TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr8:163191C>T	uc010lra.3	-	3		c.942G>A			RPL23AP53_uc003woq.4_Non-coding_Transcript|RPL23AP53_uc010lrb.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 53 (RPL23AP53), non-coding RNA.																		AAACATTATTCTTTTATGGTG	0.294000														29			5		0	0	0.003080	0	0
PRPF40B	25766	broad.mit.edu	37	12	50036431	50036431	+	Silent	SNP	C	G	G			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr12:50036431C>G	uc001rur.1	+	19	2088	c.2025C>G	c.(2023-2025)ctC>ctG	p.L675L	FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Silent_p.L697L|PRPF40B_uc001ruq.1_Silent_p.L662L|PRPF40B_uc001rus.1_Silent_p.L618L|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	675					RNA splicing|mRNA processing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GGATCCGGCTCTTCCGGGAGT	0.557000														24			25		0	0	0.006320	0	0
KLHL25	64410	broad.mit.edu	37	15	86312652	86312652	+	Silent	SNP	G	A	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr15:86312652G>A	uc002bly.3	-	1	593	c.390C>T	c.(388-390)caC>caT	p.H130H	KLHL25_uc021stw.1_Silent_p.H130H	NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	Homo sapiens kelch-like 25 (Drosophila) (KLHL25), mRNA.	130						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CCCGCACATCGTGGAACTGCA	0.622000														53			10		0	0	0.008291	0	0
AXL	558	broad.mit.edu	37	19	41763470	41763470	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr19:41763470G>A	uc010ehj.3	+	18	2459	c.2269G>A	c.(2269-2271)Gag>Aag	p.E757K	AXL_uc010ehk.3_Missense_Mutation_p.E748K	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	757	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.G756E(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GGAGAACAGCGAGATTTATGA	0.557000														98			5		0	0	0.003080	0	0
CACNA1F	778	broad.mit.edu	37	X	49063294	49063294	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chrX:49063294C>T	uc004dnb.3	-	44	5349	c.5287G>A	c.(5287-5289)Gca>Aca	p.A1763T	CACNA1F_uc010nip.3_Missense_Mutation_p.A1752T	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1763					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GGAGTCCCTGCCTGCTCATCT	0.637000														37			3		0	0	0.009096	0	0
TOP3B	8940	broad.mit.edu	37	22	22322990	22322990	+	Splice_Site	SNP	C	A	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr22:22322990C>A	uc002zvs.3	-	7	1173	c.738_splice	c.e7+1	p.K246_splice	TOP3B_uc010gtm.2_5'Flank|TOP3B_uc002zvt.4_Splice_Site_p.K246_splice|TOP3B_uc010gtl.3_Splice_Site_p.K246_splice	NM_003935	NP_003926	O95985	TOP3B_HUMAN	Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.	246					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		AGGCAAGGAACCTTGGCCTGC	0.552000														58			19		5.26018e-13	5.76115e-13	0.012319	1	0
ZNF709	163051	broad.mit.edu	37	19	12575498	12575498	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr19:12575498G>A	uc002mtv.4	-	3	1399	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	ZNF709_uc002mtw.4_Missense_Mutation_p.T381I|ZNF709_uc002mtx.4_Missense_Mutation_p.T413I	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T413I(2)|p.R412I(1)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418000														138			5		0	0	0.001168	0	0
MYH8	4626	broad.mit.edu	37	17	10299697	10299697	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr17:10299697G>A	uc002gmm.2	-	32	4698	c.4603C>T	c.(4603-4605)Caa>Taa	p.Q1535*	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1535					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGTTCTACTTGCTTCTTTATT	0.383000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					24			5		0	0	0.001168	0	0
LMNA	4000	broad.mit.edu	37	1	156104684	156104684	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr1:156104684A>G	uc001fni.2	+	3	977	c.728A>G	c.(727-729)gAt>gGt	p.D243G	LMNA_uc001fnf.1_Missense_Mutation_p.D243G|LMNA_uc001fng.2_Missense_Mutation_p.D243G|LMNA_uc001fnh.2_Missense_Mutation_p.D243G|LMNA_uc009wro.1_Missense_Mutation_p.D243G|LMNA_uc010pgz.1_Missense_Mutation_p.D131G|LMNA_uc001fnj.2_Missense_Mutation_p.D162G|LMNA_uc001fnk.2_Missense_Mutation_p.D144G|LMNA_uc009wrp.3_5'Flank|LMNA_uc010pha.1_5'Flank	NM_170707	NP_733821	P02545	LMNA_HUMAN	Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA.	243	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					CGGCTGGCGGATGCGCTGCAG	0.582000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome					77			19		0	0	0.018920	0	0
POTEC	388468	broad.mit.edu	37	18	14543092	14543092	+	Silent	SNP	G	A	A	rs45502401		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr18:14543092G>A	uc010dln.3	-	0	508	c.54C>T	c.(52-54)ttC>ttT	p.F18F	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	18										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TCCTGAGATCGAATGGCTTCT	0.572000														114			5		0	0	0.003080	0	0
PRDM7	11105	broad.mit.edu	37	16	90126823	90126823	+	Missense_Mutation	SNP	T	G	G			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr16:90126823T>G	uc010cje.3	-	8	1179	c.1159A>C	c.(1159-1161)Atg>Ctg	p.M387L	PRDM7_uc002fqo.3_Intron|PRDM7_uc010cjf.3_Intron|PRDM7_uc010cjg.1_Missense_Mutation_p.M181L	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	Homo sapiens PR domain containing 7 (PRDM7), transcript variant 1, mRNA.	387						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCATACCAGACCAG	0.522000														124			5		0	0	0.014758	0	0
NF1	4763	broad.mit.edu	37	17	29562639	29562639	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr17:29562639C>G	uc002hgg.3	+	27	4102	c.3719C>G	c.(3718-3720)gCt>gGt	p.A1240G	NF1_uc002hgh.3_Missense_Mutation_p.A1240G|NF1_uc010csn.2_Missense_Mutation_p.A1100G|NF1_uc002hgi.1_Missense_Mutation_p.A273G	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1240	Ras-GAP.				MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GATGAACTAGCTCGAGTTCTG	0.383000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				250			10		0	0	0.016723	0	0
RASD2	23551	broad.mit.edu	37	22	35947956	35947956	+	Silent	SNP	C	T	T	rs144245051		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr22:35947956C>T	uc003anx.3	+	2	883	c.678C>T	c.(676-678)gaC>gaT	p.D226D	RASD2_uc003any.3_Silent_p.D226D	NM_014310	NP_055125	Q96D21	RHES_HUMAN	Homo sapiens RASD family, member 2 (RASD2), mRNA.	226	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity	p.D226D(2)		endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						AGGAGATGGACGCCTATGGCA	0.642000														44			21		0	0	0.014323	0	0
C1orf65	164127	broad.mit.edu	37	1	223567391	223567391	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr1:223567391C>T	uc001hoa.2	+	0	677	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	192										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TCCCTCGGAGCGGTCTTCTGT	0.597000														71			53		0	0	0.014410	0	0
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	T	T			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr2:197657782C>T	uc002uts.3	-	2	466	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_uc010zgu.2_Silent_p.E103E|GTF3C3_uc002utu.3_Silent_p.E103E	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA.	103	Glu-rich.					transcription factor TFIIIC complex	DNA binding|protein binding	p.E103E(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468000														40			3		0	0	0.004672	0	0
LOC441666	441666	broad.mit.edu	37	10	42832122	42832122	+	RNA	SNP	C	T	T			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr10:42832122C>T	uc010qey.2	-	2		c.1853G>A								Homo sapiens zinc finger protein 91 pseudogene (LOC441666), non-coding RNA.																		CAGTAAAAGGCTTTGCCACAT	0.348000														16			3		0	0	0.009096	0	0
IL17F	112744	broad.mit.edu	37	6	52103580	52103580	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr6:52103580C>T	uc003pam.1	-	1	273	c.202G>A	c.(202-204)Gtt>Att	p.V68I	IL17F_uc003pal.1_Missense_Mutation_p.V14I	NM_052872	NP_443104	Q96PD4	IL17F_HUMAN	Homo sapiens interleukin 17F (IL17F), mRNA.	68					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					GACATGGAAACGCGCTGGTTT	0.448000														39			26		0	0	0.015359	0	0
KRT15	3866	broad.mit.edu	37	17	39673185	39673185	+	Missense_Mutation	SNP	C	T	T	rs138271368		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr17:39673185C>T	uc002hwy.3	-	2	804	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_uc002hwz.3_Missense_Mutation_p.V107I|KRT15_uc002hxa.3_Missense_Mutation_p.V40I|KRT15_uc002hxb.1_Missense_Mutation_p.V40I	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	205	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.V205I(6)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612000														69			13		0	0	0.003163	0	0
MUC13	56667	broad.mit.edu	37	3	124632003	124632003	+	Missense_Mutation	SNP	G	A	A	rs148368651		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr3:124632003G>A	uc003ehq.2	-	7	1205	c.1166C>T	c.(1165-1167)gCg>gTg	p.A389V		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	389	EGF-like 3.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GGGCACGCACGCACACTCAGG	0.478000														54			3		0	0	0.004672	0	0
PRB1	5542	broad.mit.edu	37	12	11506566	11506566	+	Silent	SNP	C	T	T			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr12:11506566C>T	uc001qzw.1	-	3	505	c.468G>A	c.(466-468)aaG>aaA	p.K156K	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	157	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GTCCTTGTGGCTTTCCTGGAG	0.597000														218			7		0	0	0.003080	0	0
EIF2B1	1967	broad.mit.edu	37	12	124111689	124111689	+	Silent	SNP	G	A	A	rs146748240	byFrequency	TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr12:124111689G>A	uc001ufm.3	-	4	603	c.384C>T	c.(382-384)caC>caT	p.H128H	EIF2B1_uc010tat.2_Silent_p.H128H	NM_001414	NP_001405	Q14232	EI2BA_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa (EIF2B1), mRNA.	128					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TGGAGTAGGCGTGAGTCAATA	0.562000														120			8		0	0	0.006214	0	0
ZBTB20	26137	broad.mit.edu	37	3	114058211	114058211	+	Missense_Mutation	SNP	T	G	G			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr3:114058211T>G	uc003ebi.3	-	4	2047	c.1867A>C	c.(1867-1869)Aag>Cag	p.K623Q	ZBTB20_uc003ebj.3_Missense_Mutation_p.K550Q|ZBTB20_uc010hqp.3_Missense_Mutation_p.K550Q|ZBTB20_uc003ebk.3_Missense_Mutation_p.K550Q|ZBTB20_uc003ebl.3_Missense_Mutation_p.K550Q|ZBTB20_uc003ebm.3_Missense_Mutation_p.K550Q|ZBTB20_uc003ebn.3_Missense_Mutation_p.K550Q	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	623					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P623T(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ACCATGTGCTTGATAAGGTAA	0.527000														96			4		0	0	0.014758	0	0
SDHAP1	255812	broad.mit.edu	37	3	195701278	195701278	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr3:195701278C>T	uc011btq.1	-	7	1215	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	SDHAP1_uc003fvx.3_Non-coding_Transcript|SDHAP1_uc011btp.1_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 (SDHAP1), non-coding RNA.																		CAGGCCTGCACGACTCTGCGA	0.537000														28			5		0	0	0.001168	0	0
EP400NL	347918	broad.mit.edu	37	12	132589649	132589649	+	Missense_Mutation	SNP	C	T	T	rs34521142	by1000genomes	TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr12:132589649C>T	uc001ujv.3	+	0	1108	c.1084C>T	c.(1084-1086)Cac>Tac	p.H362Y	EP400NL_uc001ujr.2_Missense_Mutation_p.H230Y|EP400NL_uc001ujs.4_Missense_Mutation_p.H293Y|EP400NL_uc009zyq.3_Missense_Mutation_p.H230Y|EP400NL_uc001ujt.3_Missense_Mutation_p.H230Y|EP400NL_uc001ujw.1_Missense_Mutation_p.H61Y					Homo sapiens EP400 N-terminal like (EP400NL), non-coding RNA.											endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						GGACTATCATCACCAGGAGAT	0.478000														22			3		0	0	0.004672	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma									60			30		0	0	0.008740	0	0
OTOP1	133060	broad.mit.edu	37	4	4199681	4199681	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr4:4199681G>A	uc003ghp.1	-	4	910	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	294					biomineral tissue development	extracellular space|integral to membrane		p.R294C(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCAACTTTGCGCCCGATGTTC	0.567000														71			29		0	0	0.021022	0	0
SLC34A2	10568	broad.mit.edu	37	4	25677957	25677957	+	Silent	SNP	G	A	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr4:25677957G>A	uc003grr.3	+	12	1740	c.1659G>A	c.(1657-1659)cgG>cgA	p.R553R	SLC34A2_uc003grs.3_Silent_p.R552R|SLC34A2_uc010iev.3_Silent_p.R552R	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	553					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.R553W(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CCGGCTGGCGGGTGCTGGTTG	0.597000			T	ROS1	NSCLC									145			6		0	0	0.001984	0	0
TSHR	7253	broad.mit.edu	37	14	81609744	81609744	+	Missense_Mutation	SNP	G	A	A	rs146403935	by1000genomes	TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr14:81609744G>A	uc001xvd.1	+	9	1498	c.1342G>A	c.(1342-1344)Gtc>Atc	p.V448I		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	448					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.N447K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CAAACTGAACGTCCCCCGCTT	0.517000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							163			12		0	0	0.020292	0	0
TIGIT	201633	broad.mit.edu	37	3	114026861	114026861	+	Silent	SNP	A	G	G			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr3:114026861A>G	uc003ebg.2	+	3	1373	c.618A>G	c.(616-618)gcA>gcG	p.A206A		NM_173799	NP_776160	Q495A1	TIGIT_HUMAN	Homo sapiens T cell immunoreceptor with Ig and ITIM domains (TIGIT), mRNA.	206					negative regulation of T cell activation|negative regulation of interleukin-12 production|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						CAGAAGCTGCACCTGCTGGGC	0.572000														83			42		0	0	0.014410	0	0
CR1	1378	broad.mit.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	T	T	rs55749440		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr1:207787753C>T	uc001hfy.3	+	31	5370	c.5230C>T	c.(5230-5232)Cga>Tga	p.R1744*	CR1_uc001hfx.3_Nonsense_Mutation_p.R2194*|CR1_uc021pij.1_Nonsense_Mutation_p.R1744*	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1744	Sushi 27.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTCCGATTAAAAGG	0.423000														61			3		0	0	0.009096	0	0
PTPRK	5796	broad.mit.edu	37	6	128297888	128297888	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr6:128297888A>G	uc003qbk.3	-	26	4247	c.3880T>C	c.(3880-3882)Tat>Cat	p.Y1294H	PTPRK_uc010kfc.3_Missense_Mutation_p.Y1301H|PTPRK_uc003qbj.3_Missense_Mutation_p.Y1295H|PTPRK_uc011ebu.2_Missense_Mutation_p.Y1317H	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1294	Tyrosine-protein phosphatase 2.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1294Q(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATGGGGCCATATCGTAGCATC	0.398000														63			3		0	0	0.009096	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163215	163215	+	RNA	SNP	G	A	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr8:163215G>A	uc010lra.3	-	3		c.918C>T			RPL23AP53_uc003woq.4_Non-coding_Transcript|RPL23AP53_uc010lrb.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 53 (RPL23AP53), non-coding RNA.																		AGATACACATGTATTTAGAGT	0.323000														49			5		0	0	0.004482	0	0
IKZF5	64376	broad.mit.edu	37	10	124753508	124753508	+	Missense_Mutation	SNP	T	G	G			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr10:124753508T>G	uc001lha.2	-	4	1347	c.1048A>C	c.(1048-1050)Acc>Ccc	p.T350P	AK023288_uc021qaj.1_5'Flank	NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN	Homo sapiens IKAROS family zinc finger 5 (Pegasus) (IKZF5), mRNA.	350					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)		GGGGCTGGGGTGCTTGGCTGG	0.547000														60			6		0	0	0.005443	0	0
SLC25A51P1	442229	broad.mit.edu	37	6	66498719	66498719	+	RNA	SNP	C	T	T			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr6:66498719C>T	uc011dxw.2	+	0		c.948C>T								Homo sapiens mitochondrial carrier triple repeat 3 pseudogene (MCART3P), non-coding RNA.																		TTCACTCCACCGGAAATAGTT	0.473000														57			7		0	0	0.001984	0	0
KCNK18	338567	broad.mit.edu	37	10	118957048	118957048	+	Silent	SNP	C	T	T			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr10:118957048C>T	uc010qsr.2	+	0	49	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	17						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCCAGAGGCCCTGGGAAAGCT	0.632000														68			4		0	0	0.014758	0	0
FUBP1	8880	broad.mit.edu	37	1	78422268	78422269	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr1:78422268_78422269insT	uc001dii.3	-	16	1782_1783	c.1693_1694insA	c.(1693-1695)actfs	p.T565fs	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Frame_Shift_Ins_p.T586fs	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	565					transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTGTCCATTAGTTTGAGTTGTA	0.406			"""F, N"""		oligodendroglioma								---	42	---	---	54	---					
BIRC6	57448	broad.mit.edu	37	2	32706407	32706407	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr2:32706407delT	uc010ezu.3	+	37	7562	c.7428delT	c.(7426-7428)tctfs	p.S2476fs		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2476					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTCTGTCCTCTTTGGAAAAAG	0.333													---	105	---	---	10	---					
LOC554223	554223	broad.mit.edu	37	6	29760353	29760373	+	In_Frame_Del	DEL	GCGGGCGCCGTGGATGGAGCA	-	-	rs74661005	by1000genomes	TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	uc003nnt.3	+	1	540_560	c.438_458delGCGGGCGCCGTGGATGGAGCA	c.(436-459)ccgcgggcgccgtggatggagcag>ccg	p.RAPWMEQ147del	HCG4_uc003nns.3_Non-coding_Transcript|LOC554223_uc010jrm.1_In_Frame_Del_p.AGAVDGA111del	NM_001207043	NP_001193972	Q86V94	Q86V94_HUMAN	Homo sapiens histocompatibility antigen-related (LOC554223), mRNA.	147					antigen processing and presentation|immune response	MHC class I protein complex											GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674													---	3	---	---	5	---					
PRIM1	5557	broad.mit.edu	37	12	57136804	57136804	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr12:57136804delT	uc001smd.3	-	6	779	c.715delA	c.(715-717)agcfs	p.S239fs		NM_000946	NP_000937	P49642	PRI1_HUMAN	Homo sapiens primase, DNA, polypeptide 1 (49kDa) (PRIM1), mRNA.	239					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding			kidney(1)|lung(6)|prostate(1)	8						TTATCCCAGCTTTCTTTATTT	0.299													---	4	---	---	2	---					
BTBD1	53339	broad.mit.edu	37	15	83687454	83687457	+	Splice_Site	DEL	CTTA	-	-			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr15:83687454_83687457delCTTA	uc002bjn.3	-	7	1493	c.1290_splice	c.e7+1	p.K430_splice	BTBD1_uc002bjo.3_Splice_Site	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN	Homo sapiens BTB (POZ) domain containing 1 (BTBD1), transcript variant 1, mRNA.	430						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		GTGCATGACTCTTACTTTGAGTGT	0.441													---	55	---	---	22	---					
OR7E24	26648	broad.mit.edu	37	19	9361740	9361741	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr19:9361740_9361741insT	uc002mlb.1	+	0	21_22	c.21_22insT	c.(19-24)ctctttfs	p.L7fs		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TTCCAATTCTCTTTTTTTTTTT	0.386													---	4	---	---	2	---					
AK023304	0	broad.mit.edu	37	19	12305944	12305944	+	RNA	DEL	G	-	-			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr19:12305944delG	uc002mtj.2	+	0		c.115delG			AK023304_uc010dyq.2_Non-coding_Transcript					Homo sapiens cDNA FLJ13242 fis, clone OVARC1000578.																		CCAGACACCTGGAAGCCGGAA	0.637													---	5	---	---	6	---					
CIC	23152	broad.mit.edu	37	19	42792020	42792021	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr19:42792020_42792021delAG	uc002otf.1	+	5	864_865	c.824_825delAG	c.(823-825)aagfs	p.K275fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R274*(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGGACCGAAAGAAGTCCAGCT	0.649			"""Mis, F, S"""		oligodendroglioma								---	5	---	---	5	---					
