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
USP31	57478	broad.mit.edu	37	16	23080559	23080559	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr16:23080559C>T	uc002dll.3	-	15	2867	c.2867G>A	c.(2866-2868)cGc>cAc	p.R956H	USP31_uc002dlk.3_Missense_Mutation_p.R228H|USP31_uc010vca.2_Missense_Mutation_p.R259H|USP31_uc010bxm.3_Missense_Mutation_p.R244H	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	956	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GTTCAATCTGCGGGTGTCCGA	0.552000													12	113					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr1:145302714A>G	uc021oul.1	+	7	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L384L|NBPF10_uc010oyi.2_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L|NBPF10_uc021oum.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	384								p.L384L(6)|p.L113L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													4	51					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129823889	129823889	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr6:129823889C>T	uc021zfb.1	+	58	8435	c.8330C>T	c.(8329-8331)gCa>gTa	p.A2777V	LAMA2_uc003qbn.3_Missense_Mutation_p.A2775V|LAMA2_uc003qbo.3_Missense_Mutation_p.A2771V|BC035400_uc003qbq.3_Non-coding_Transcript	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2777	Laminin G-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATTGCAATTGCATTTGATGAC	0.408000													6	36					0	0	1	0	0
RPL31P11	641311	broad.mit.edu	37	1	161654693	161654693	+	RNA	SNP	A	A	G	rs1256287	by1000genomes	TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr1:161654693A>G	uc001gbc.3	-	0		c.350T>C								Homo sapiens ribosomal protein L31 pseudogene 11 (RPL31P11), non-coding RNA.																		TAACCAAAGTATAGAGCTTAT	0.398000													3	24					0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176825109	176825109	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr5:176825109G>A	uc003mgk.4	+	12	1846	c.1742G>A	c.(1741-1743)cGc>cAc	p.R581H		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.	581					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCTGCCTCGCTGGATGCAC	0.667000													13	53					0	0	1	0	0
CLIC2	1193	broad.mit.edu	37	X	154508571	154508571	+	Nonsense_Mutation	SNP	A	A	C			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chrX:154508571A>C	uc004fnf.3	-	4	699	c.449T>G	c.(448-450)tTa>tGa	p.L150*	CLIC2_uc010nvj.1_Nonsense_Mutation_p.L168*	NM_001289	NP_001280	O15247	CLIC2_HUMAN	Homo sapiens chloride intracellular channel 2 (CLIC2), mRNA.	150	C-terminal.|GST C-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGGGTGTTTAAGTAGTCATC	0.408000													16	14					0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109519737	109519737	+	Splice_Site	SNP	G	G	A			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr12:109519737G>A	uc010sxi.2	+	9	885	c.781_splice	c.e9-1	p.G261_splice	USP30_uc001tnu.4_Splice_Site_p.G230_splice|USP30_uc001tnw.4_5'Flank	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	Homo sapiens ubiquitin specific peptidase 30 (USP30), mRNA.	261					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						TCATGCTGTAGGGTCACCCAT	0.428000													25	109					0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042314	75042314	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr15:75042314C>T	uc002ayr.1	+	1	299	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	79				R -> S (in Ref. 2; AAA35738).	alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CCTGCAGATCCGCATTGGCTC	0.672000													12	32					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153175109	153175109	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr5:153175109T>C	uc011dcy.2	+	13	2401	c.2374T>C	c.(2374-2376)Tac>Cac	p.Y792H	GRIA1_uc003lva.4_Missense_Mutation_p.Y782H|GRIA1_uc003luy.4_Intron|GRIA1_uc003luz.4_Missense_Mutation_p.Y687H|GRIA1_uc011dcv.2_Intron|GRIA1_uc011dcw.2_Intron|GRIA1_uc011dcx.2_Intron|GRIA1_uc011dcz.2_Intron	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	782					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAAATGGTGGTACGATAAAGG	0.473000													8	34					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196648911	196648911	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr1:196648911C>T	uc001gtj.4	+	5	1018	c.778C>T	c.(778-780)Cct>Tct	p.P260S	CFH_uc001gti.4_Missense_Mutation_p.P260S|CFH_uc009wyw.3_Missense_Mutation_p.P260S|CFH_uc009wyx.3_Missense_Mutation_p.P196S	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	260	Sushi 4.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GCGTCCGTTGCCTTCATGTGA	0.294000													5	28					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540669	28540669	+	Silent	SNP	G	G	A			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr6:28540669G>A	uc003nlo.3	-	3	3615	c.2997C>T	c.(2995-2997)tgC>tgT	p.C999C		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	999					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gatgaatgaagcaatgtgttg	0.328000													13	67					0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12541141	12541141	+	Silent	SNP	C	C	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr19:12541141C>T	uc002mtu.3	-	3	2043	c.1845G>A	c.(1843-1845)ccG>ccA	p.P615P		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	Homo sapiens zinc finger protein 443 (ZNF443), mRNA.	615					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TACATTCATACGGGTTCTCTC	0.403000													3	31					0	0	1	0	0
CNST	163882	broad.mit.edu	37	1	246810446	246810446	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr1:246810446A>G	uc001ibp.3	+	8	1321	c.943A>G	c.(943-945)Aaa>Gaa	p.K315E	CNST_uc001ibo.4_Missense_Mutation_p.K315E	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA.	315					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TTTAGAGAGTAAAACTTGTCT	0.388000											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	40					0	0	1	0	0
CAMK2D	817	broad.mit.edu	37	4	114436309	114436309	+	Silent	SNP	G	G	A			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr4:114436309G>A	uc003ibi.3	-	9	1594	c.735C>T	c.(733-735)gcC>gcT	p.A245A	CAMK2D_uc003ibj.3_Silent_p.A245A|CAMK2D_uc003ibk.3_Silent_p.A245A|CAMK2D_uc003ibo.4_Silent_p.A245A|CAMK2D_uc003ibm.2_Silent_p.A245A|CAMK2D_uc003ibn.2_Silent_p.A245A|CAMK2D_uc003ibl.2_Silent_p.A245A	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II delta (CAMK2D), transcript variant 3, mRNA.	245	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TGAGGTCTTTGGCTTCAGGAG	0.398000													15	64					0	0	1	0	0
FEM1A	55527	broad.mit.edu	37	19	4793724	4793724	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr19:4793724C>A	uc002mbf.3	+	0	1997	c.1858C>A	c.(1858-1860)Ctg>Atg	p.L620M	AK126532_uc002mbg.1_Non-coding_Transcript	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN	Homo sapiens fem-1 homolog a (C. elegans) (FEM1A), mRNA.	620					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	p.L620M(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGCCTACGAGCTGCTGGACGA	0.607000													4	31					1	1	1	1	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	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								13	55					0	0	1	0	0
CCT7	10574	broad.mit.edu	37	2	73478419	73478419	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr2:73478419C>G	uc002siz.3	+	10	1412	c.1269C>G	c.(1267-1269)taC>taG	p.Y423*	CCT7_uc010yrf.2_Nonsense_Mutation_p.Y379*|CCT7_uc010yrh.2_Nonsense_Mutation_p.Y295*|CCT7_uc010yrg.2_Nonsense_Mutation_p.Y323*|CCT7_uc010yri.2_Nonsense_Mutation_p.Y336*|CCT7_uc002sja.3_Nonsense_Mutation_p.Y219*	NM_006429	NP_001159757	Q99832	TCPH_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 7 (eta) (CCT7), transcript variant 1, mRNA.	423					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						TGCGGGATTACTCAAGGACTA	0.517000													24	81					0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50807962	50807962	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr6:50807962C>A	uc003pag.3	+	5	1200	c.1034C>A	c.(1033-1035)aCa>aAa	p.T345K		NM_003221	NP_003212	Q92481	AP2B_HUMAN	Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.	345					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CGGCAGCACACAGACCCGAGT	0.517000													12	72					7.03913e-09	7.25243e-09	1	1	0
DHX35	60625	broad.mit.edu	37	20	37634881	37634881	+	Silent	SNP	C	C	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr20:37634881C>T	uc002xjh.3	+	11	1134	c.1104C>T	c.(1102-1104)taC>taT	p.Y368Y	DHX35_uc010zwa.2_Silent_p.Y213Y|DHX35_uc010zwc.2_Silent_p.Y337Y|DHX35_uc010zwb.2_Silent_p.Y213Y	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.	368	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TCCGAGCCTACAATCCCAGGA	0.522000													60	239					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118544	118544	+	RNA	SNP	A	A	G			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chrGL000205.1:118544A>G	uc002kgk.4	+	0		c.1922A>G								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGATAATCTAAGAGAAAAAGA	0.408000													4	37					0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56704396	56704396	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr19:56704396C>T	uc010ygh.2	-	0	26	c.26G>A	c.(25-27)tGg>tAg	p.W9*		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	9					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCCCTGACCCCATGAGAGTGT	0.502000													2	2					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414330	68414330	+	RNA	SNP	T	T	C			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr9:68414330T>C	uc004aex.3	+	0		c.885T>C								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		atgattaagcttagtgaagat	0.428000													2	4					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	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													4	57					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37419199	37419199	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr10:37419199G>A	uc021ppc.1	+	2	334	c.235G>A	c.(235-237)Gta>Ata	p.V79I	ANKRD30A_uc001iza.1_Missense_Mutation_p.V79I	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	135						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.V79I(2)|p.L78L(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TATAAATCTCGTAGATGTGTA	0.423000													7	36					0	0	1	0	0
AK302238	0	broad.mit.edu	37	15	29092257	29092257	+	Missense_Mutation	SNP	C	C	T	rs75388271	by1000genomes	TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr15:29092257C>T	uc010uar.1	-	1	259	c.130G>A	c.(130-132)Gct>Act	p.A44T	LOC646278_uc021sgt.1_Intron					SubName: Full=cDNA FLJ59069, weakly similar to Golgin subfamily A member 6;																		TCAGGGTTAGCGCCATGATTT	0.547000													4	36					0	0	1	0	0
KLHL5	51088	broad.mit.edu	37	4	39088270	39088270	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr4:39088270C>T	uc003gtr.2	+	4	1457	c.1174C>T	c.(1174-1176)Cgt>Tgt	p.R392C	KLHL5_uc003gtp.3_Missense_Mutation_p.R346C|KLHL5_uc003gtq.3_Missense_Mutation_p.R205C|KLHL5_uc003gts.3_Missense_Mutation_p.R392C|KLHL5_uc003gtt.3_Missense_Mutation_p.R331C	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	Homo sapiens kelch-like 5 (Drosophila) (KLHL5), transcript variant 1, mRNA.	392						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TACTTGGGTCCGTCATGATTT	0.388000													5	42					0	0	1	0	0
PRSS54	221191	broad.mit.edu	37	16	58324928	58324928	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr16:58324928G>T	uc002enf.3	-	3	593	c.198C>A	c.(196-198)caC>caA	p.H66Q	PRSS54_uc002eng.3_Missense_Mutation_p.H66Q|PRSS54_uc010vie.2_Intron	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	Homo sapiens protease, serine, 54 (PRSS54), mRNA.	66	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CGAAAGCCAGGTGTGTGTACT	0.607000													12	59					1.02788e-11	1.09213e-11	1	1	0
SRD5A1	6715	broad.mit.edu	37	5	6663021	6663021	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr5:6663021G>A	uc003jdw.3	+	3	845	c.655G>A	c.(655-657)Gcg>Acg	p.A219T	SRD5A1_uc011cml.2_Non-coding_Transcript|SRD5A1_uc011cmm.2_Missense_Mutation_p.A172T	NM_001047	NP_001038	P18405	S5A1_HUMAN	Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) (SRD5A1), mRNA.	219					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)	TGTCCAAGGCGCGGCTTTTGC	0.408000													22	69					0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78429792	78429792	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr1:78429792A>T	uc001dii.3	-	11	1085	c.996T>A	c.(994-996)tgT>tgA	p.C332*	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Nonsense_Mutation_p.C353*	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	332	KH 3.				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						CAGCATGTTGACATCGGTCTG	0.328000			"""F, N"""		oligodendroglioma								21	66					0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2968215	2968215	+	Silent	SNP	C	C	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr12:2968215C>T	uc001qlf.3	-	8	2164	c.1881G>A	c.(1879-1881)acG>acA	p.T627T	LOC100507424_uc021qtc.1_Intron|FOXM1_uc001qle.3_Silent_p.T665T|FOXM1_uc009zea.3_Silent_p.T612T|FOXM1_uc009zeb.3_Silent_p.T611T|FOXM1_uc001qlg.3_Silent_p.T612T	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA.	627					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TGGCTGGGGGCGTGAGCCTCC	0.592000													18	83					0	0	1	0	0
RNF223	401934	broad.mit.edu	37	1	1007253	1007253	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr1:1007253delG	uc021oeo.1	-	0	694	c.694delC	c.(694-696)cggfs	p.R232fs	RNF223_uc021oen.1_Frame_Shift_Del_p.R232fs	NM_001205252	NP_001192181	E7ERA6	RN223_HUMAN	Homo sapiens ring finger protein 223 (RNF223), mRNA.	232						integral to membrane	zinc ion binding										GCCGGGGGCCGGGGGGGCAGG	0.701													3	6	---	---	---	---					
SPRR3	6707	broad.mit.edu	37	1	152975806	152975829	+	In_Frame_Del	DEL	CCAGGCTACACCAAGGTCCCTGAA	CCAGGCTACACCAAGGTCCCTGAA	-	rs1970328	byFrequency	TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr1:152975806_152975829delCCAGGCTACACCAAGGTCCCTGAA	uc021ozo.1	+	0	310_333	c.310_333delCCAGGCTACACCAAGGTCCCTGAA	c.(310-333)ccaggctacaccaaggtccctgaadel	p.PGYTKVPE104del	SPRR3_uc001fax.4_In_Frame_Del_p.PGYTKVPE104del|SPRR3_uc001faz.4_In_Frame_Del_p.PGYTKVPE104del|SPRR3_uc001fay.2_In_Frame_Del_p.PGYTKVPE96del	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA.	104	14 X 8 AA approximate tandem repeats.		Missing.		keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	p.Y106C(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTCCCTGAGCCAGGCTACACCAAGGTCCCTGAACCAGGCAGCA	0.567													10	81	---	---	---	---					
PIK3CA	5290	broad.mit.edu	37	3	178916938	178916940	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr3:178916938_178916940delGAA	uc003fjk.3	+	1	482_484	c.325_327delGAA	c.(325-327)gaadel	p.E110del		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	110					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E109del(6)|p.E110K(4)|p.G106_R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGGCAACCGTGAAGAAAAGATCC	0.340		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			9	38	---	---	---	---					
SNAPC4	6621	broad.mit.edu	37	9	139277995	139277997	+	In_Frame_Del	DEL	GCT	GCT	-	rs34222232		TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr9:139277995_139277997delGCT	uc004chh.3	-	14	1633_1635	c.1624_1626delAGC	c.(1624-1626)agcdel	p.S542del		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	542					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.S542delS(4)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGTCCTCCTCgctgctgctgctg	0.690													5	3	---	---	---	---					
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs59413596		TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr11:47788664_47788669delGGTGGT	uc009ylv.3	-	0	325_330	c.172_177delACCACC	c.(172-177)accaccdel	p.TT58del	FNBP4_uc001ngj.3_5'UTR|FNBP4_uc001ngl.2_Non-coding_Transcript	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	58								p.T58_T59delTT(6)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748													3	5	---	---	---	---					
YBX2	51087	broad.mit.edu	37	17	7197580	7197581	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr17:7197580_7197581insG	uc002gfq.2	-	0	296_297	c.239_240insC	c.(238-240)ccgfs	p.P80fs		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Homo sapiens Y box binding protein 2 (YBX2), mRNA.	80					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GACTCCGGGCCGGGGGGGCGGG	0.802													2	4	---	---	---	---					
