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
TRIT1	54802	broad.mit.edu	37	1	40307511	40307511	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr1:40307511T>C	uc021olz.1	-	10	1323	c.1309A>G	c.(1309-1311)Ata>Gta	p.I437V	TRIT1_uc001ced.4_Missense_Mutation_p.I133V|TRIT1_uc001cee.4_Non-coding_Transcript|TRIT1_uc001cef.4_Non-coding_Transcript|TRIT1_uc001ceg.4_Missense_Mutation_p.I191V|TRIT1_uc001ceh.4_Missense_Mutation_p.I191V|TRIT1_uc009vvv.3_Missense_Mutation_p.I270V|TRIT1_uc001cei.4_Missense_Mutation_p.I191V|TRIT1_uc001cec.4_Non-coding_Transcript|TRIT1_uc001ceq.3_Missense_Mutation_p.I133V|TRIT1_uc001cek.3_Missense_Mutation_p.I133V|TRIT1_uc009vvx.3_Non-coding_Transcript|TRIT1_uc001cel.3_Non-coding_Transcript|TRIT1_uc001cem.3_Missense_Mutation_p.I355V|TRIT1_uc001cen.3_Missense_Mutation_p.I191V|TRIT1_uc001ceo.3_Missense_Mutation_p.I191V|TRIT1_uc001cep.3_Missense_Mutation_p.I191V	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	Homo sapiens tRNA isopentenyltransferase 1 (TRIT1), mRNA.	437					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGACTTTCTATGGTGTTGACA	0.418000														129			84		0	0	0.003610	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	C	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr2:95522786T>C	uc010fhp.3	-	0		c.35A>G						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.									p.K44K(1)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						CGGCGTCGCCTTTGACAGCTG	0.687000														117			3		0	0	0.000248	0	0
SLC9A3R1	9368	broad.mit.edu	37	17	72745286	72745286	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr17:72745286A>T	uc002jlo.3	+	0	524	c.301A>T	c.(301-303)Aag>Tag	p.K101*	SLC9A3R1_uc002jln.1_Non-coding_Transcript	NM_004252	NP_004243	O14745	NHRF1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 (SLC9A3R1), mRNA.	101					Wnt receptor signaling pathway|apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of ERK1 and ERK2 cascade|negative regulation of cell proliferation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	PDZ domain binding|beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|phosphatase binding|protein self-association			large_intestine(4)	4						GCAGCTGCAGAAGCTCGGCGT	0.736000														10			13		0	0	0.001855	0	0
TXNDC5	81567	broad.mit.edu	37	6	7889004	7889004	+	Silent	SNP	A	C	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr6:7889004A>C	uc003mxv.3	-	6	935	c.897T>G	c.(895-897)acT>acG	p.T299T	TXNDC5_uc003mxw.3_Silent_p.T256T|TXNDC5_uc010jnz.3_Silent_p.T191T|TXNDC5_uc010joa.2_Silent_p.T191T	NM_030810	NP_001139021	Q8NBS9	TXND5_HUMAN	Homo sapiens thioredoxin domain containing 5 (endoplasmic reticulum) (TXNDC5), transcript variant 1, mRNA.	299					anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					CCGTCGCTCCAGTCTCTGTGC	0.642000														137			93		0	0	0.003610	0	0
NFATC2	4773	broad.mit.edu	37	20	50139902	50139902	+	Missense_Mutation	SNP	C	G	G	rs147035777	by1000genomes	TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr20:50139902C>G	uc002xwd.3	-	1	1098	c.878G>C	c.(877-879)gGg>gCg	p.G293A	NFATC2_uc002xwc.3_Missense_Mutation_p.G293A|NFATC2_uc010zyv.2_Missense_Mutation_p.G74A|NFATC2_uc010zyw.2_Missense_Mutation_p.G74A|NFATC2_uc002xwe.3_Missense_Mutation_p.G273A|NFATC2_uc010zyx.2_Missense_Mutation_p.G273A|NFATC2_uc010zyy.2_Missense_Mutation_p.G74A|NFATC2_uc010zyz.2_Missense_Mutation_p.G74A	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	293					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					AGGGGGGTACCCAGCCGGGGA	0.697000														19			11		0	0	0.008291	0	0
RANBP2	5903	broad.mit.edu	37	2	109379713	109379713	+	Silent	SNP	T	C	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr2:109379713T>C	uc002tem.4	+	19	2844	c.2718T>C	c.(2716-2718)aaT>aaC	p.N906N		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	906					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding	p.N906S(1)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATGGCATGAATAGGCTTCCAC	0.413000														58			26		0	0	0.004656	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802049	185802049	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr2:185802049G>T	uc002uph.3	+	3	2520	c.1926G>T	c.(1924-1926)caG>caT	p.Q642H		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	642						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAGAAAAGCAGTATTTAGCTG	0.348000														76			46		6.7651e-33	8.69799e-33	0.003610	1	0
CSN3	1448	broad.mit.edu	37	4	71114720	71114720	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr4:71114720T>A	uc003hfe.4	+	3	151	c.93T>A	c.(91-93)caT>caA	p.H31Q		NM_005212	NP_005203	P07498	CASK_HUMAN	Homo sapiens casein kappa (CSN3), mRNA.	31						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						tGCAGTGCCATGAGAATGATG	0.294000														51			5		0	0	0.000602	0	0
TBP	6908	broad.mit.edu	37	6	170871070	170871070	+	Silent	SNP	G	A	A	rs142508797	byFrequency	TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr6:170871070G>A	uc003qxu.3	+	2	525	c.246G>A	c.(244-246)caG>caA	p.Q82Q	TBP_uc011ehf.2_Silent_p.Q62Q|TBP_uc003qxt.3_Silent_p.Q82Q|TBP_uc011ehg.1_Silent_p.Q82Q	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	82	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q81Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.587000														39			3		0	0	0.004672	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21819191	21819191	+	Silent	SNP	C	A	A			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr18:21819191C>A	uc002kve.3	-	15	1654	c.1437G>T	c.(1435-1437)gcG>gcT	p.A479A	OSBPL1A_uc002kvd.3_5'UTR|OSBPL1A_uc010xbc.2_Silent_p.A97A|OSBPL1A_uc002kvf.3_Silent_p.A259A	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	Homo sapiens oxysterol binding protein-like 1A (OSBPL1A), transcript variant 2, mRNA.	479					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TACCTGACAGCGCATCATAGA	0.522000														53			4		0.000602214	0.000684069	0.000602	1	0
BCL9	607	broad.mit.edu	37	1	147086367	147086367	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr1:147086367A>G	uc001epq.3	+	5	1252	c.512A>G	c.(511-513)aAg>aGg	p.K171R	BCL9_uc010ozr.1_Missense_Mutation_p.K97R	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	171					Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCTGCTCAGAAGACTCCAGCC	0.537000			T	"""IGH@, IGL@"""	B-ALL									25			29		0	0	0.007291	0	0
PCBP3	54039	broad.mit.edu	37	21	47333926	47333926	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr21:47333926T>G	uc010gqb.3	+	9	925	c.662T>G	c.(661-663)tTt>tGt	p.F221C	PCBP3_uc002zhp.2_Missense_Mutation_p.F221C|PCBP3_uc010gqc.2_Intron|PCBP3_uc002zhq.2_Missense_Mutation_p.F221C|PCBP3_uc002zhs.2_Intron|PCBP3_uc002zht.2_Missense_Mutation_p.F189C	NM_020528	NP_065389	P57721	PCBP3_HUMAN	Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.	221					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CCTGTCATTTTTGCAGGTGGT	0.602000														52			35		0	0	0.004289	0	0
PCNX	22990	broad.mit.edu	37	14	71413816	71413816	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr14:71413816G>T	uc001xmo.2	+	1	784	c.338G>T	c.(337-339)aGg>aTg	p.R113M	PCNX_uc001xmn.4_Missense_Mutation_p.R113M|PCNX_uc010are.1_Missense_Mutation_p.R113M	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	113						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGTTCAACCAGGAGAAAAGAC	0.398000														15			8		0.000274275	0.000317725	0.004482	1	0
DCHS2	54798	broad.mit.edu	37	4	155226303	155226303	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr4:155226303C>A	uc003inw.2	-	15	3976	c.3976G>T	c.(3976-3978)Gta>Tta	p.V1326L		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1326	Cadherin 11.				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)		GTTGTCACTACCTCTCCAGTG	0.338000														22			13		3.27435e-08	3.90918e-08	0.002450	1	0
ANKRD36	375248	broad.mit.edu	37	2	97877292	97877292	+	Missense_Mutation	SNP	C	A	A	rs10171441	by1000genomes	TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr2:97877292C>A	uc010yva.2	+	56	3621	c.3377C>A	c.(3376-3378)cCg>cAg	p.P1126Q	ANKRD36_uc002sxr.1_5'Flank	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	1126										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GTGTCTTCTCCGAAACAACCA	0.299000														32			3		0.004672	0.00520594	0.004672	1	0
COX11	1353	broad.mit.edu	37	17	53045784	53045784	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr17:53045784T>G	uc010wng.1	-	0	281	c.224A>C	c.(223-225)aAg>aCg	p.K75T	STXBP4_uc010dcc.1_5'Flank|STXBP4_uc002iuf.1_5'Flank|STXBP4_uc010dcd.1_5'Flank|COX11_uc010wne.1_Non-coding_Transcript|COX11_uc010wnf.1_Non-coding_Transcript|COX11_uc002iue.2_Non-coding_Transcript|COX11_uc010wnh.1_Missense_Mutation_p.K75T	NM_004375	NP_004366	Q9Y6N1	COX11_HUMAN	Homo sapiens COX11 cytochrome c oxidase assembly homolog (yeast) (COX11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	75					respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						GTTCGAGCTCTTAGGCCGCCG	0.677000														58			60		0	0	0.003610	0	0
SLC40A1	30061	broad.mit.edu	37	2	190428774	190428774	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr2:190428774C>G	uc002uqp.4	-	6	1289	c.938G>C	c.(937-939)gGt>gCt	p.G313A		NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA.	313					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GAAAGCAAGACCCATGCCAGC	0.527000														35			23		0	0	0.003330	0	0
PNPLA8	50640	broad.mit.edu	37	7	108112970	108112970	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr7:108112970C>T	uc003vff.1	-	11	2631	c.2224G>A	c.(2224-2226)Gaa>Aaa	p.E742K	PNPLA8_uc003vfi.1_Missense_Mutation_p.E642K|PNPLA8_uc003vfh.1_Missense_Mutation_p.E742K|PNPLA8_uc003vfj.1_Missense_Mutation_p.E742K|PNPLA8_uc003vfk.1_Missense_Mutation_p.E642K	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	Homo sapiens patatin-like phospholipase domain containing 8 (PNPLA8), transcript variant 1, mRNA.	742					fatty acid metabolic process|lipid catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						ATTTTTTGTTCATTTCTTTCT	0.299000														41			21		0	0	0.008871	0	0
PBRM1	55193	broad.mit.edu	37	3	52584609	52584609	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr3:52584609A>T	uc003des.2	-	28	4737	c.4725T>A	c.(4723-4725)taT>taA	p.Y1575*	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Nonsense_Mutation_p.Y1468*|PBRM1_uc003der.2_Nonsense_Mutation_p.Y1488*|PBRM1_uc003det.2_Nonsense_Mutation_p.Y1483*|PBRM1_uc003deu.2_Nonsense_Mutation_p.Y1538*|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Nonsense_Mutation_p.Y1520*|PBRM1_uc010hmk.1_Nonsense_Mutation_p.Y1495*|PBRM1_uc003dey.2_Nonsense_Mutation_p.Y1468*	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1575	Pro-rich.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GTGGGCCGGGATATGGAGGTG	0.572000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									19			59		0	0	0.003610	0	0
OR1S1	219959	broad.mit.edu	37	11	57982376	57982376	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr11:57982376G>A	uc010rkc.2	+	0	160	c.160G>A	c.(160-162)Ggg>Agg	p.G54R		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I53V(1)		breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CACTGTGATTGGGAACGGGCT	0.448000														116			79		0	0	0.003610	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662534	662534	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr12:662534C>A	uc001qii.1	+	13	1445	c.1445C>A	c.(1444-1446)cCc>cAc	p.P482H	B4GALNT3_uc001qij.1_Missense_Mutation_p.P385H|B4GALNT3_uc001qik.1_Missense_Mutation_p.P31H	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	482						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CTGGCTCAGCCCCGGGAGGGC	0.627000														80			38		1.60099e-16	2.01414e-16	0.004878	1	0
SPTBN2	6712	broad.mit.edu	37	11	66488565	66488565	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr11:66488565C>G	uc001ojd.3	-	1	219	c.147G>C	c.(145-147)aaG>aaC	p.K49N		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	49	Actin-binding.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTGCCAGAGCCTTAATGCGAG	0.572000														23			28		0	0	0.002836	0	0
FAM75C2	645961	broad.mit.edu	37	9	90747533	90747533	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr9:90747533G>T	uc011lti.2	-	3	448	c.419C>A	c.(418-420)gCc>gAc	p.A140D		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	140																	GGACCGGGAGGCTCCATCAGG	0.597000														138			17		7.45023e-12	8.98635e-12	0.001523	1	0
ZNHIT6	54680	broad.mit.edu	37	1	86123544	86123544	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr1:86123544T>G	uc001dlh.3	-	8	1507	c.1358A>C	c.(1357-1359)aAa>aCa	p.K453T	ZNHIT6_uc010osc.2_Missense_Mutation_p.K414T	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN	Homo sapiens zinc finger, HIT-type containing 6 (ZNHIT6), transcript variant 1, mRNA.	453					box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						GTGAAGAACTTTCATGTCATT	0.328000														127			4		0	0	0.000602	0	0
PDIA5	10954	broad.mit.edu	37	3	122821610	122821610	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr3:122821610T>A	uc003egc.2	+	4	510	c.354T>A	c.(352-354)ttT>ttA	p.F118L	PDIA5_uc003egd.2_Non-coding_Transcript	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	Homo sapiens protein disulfide isomerase family A, member 5 (PDIA5), transcript variant 1, mRNA.	118					cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		ATGGTGCATTTCATACTGAAT	0.393000														3			19		0	0	0.002299	0	0
RPL32P3	132241	broad.mit.edu	37	3	129116000	129116000	+	RNA	SNP	A	G	G			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr3:129116000A>G	uc003eme.1	-	0		c.798T>C			RPL32P3_uc003ema.3_Intron|RPL32P3_uc003emb.3_Intron|RPL32P3_uc003emd.1_Intron					Homo sapiens ribosomal protein L32 pseudogene 3 (RPL32P3), non-coding RNA.											lung(1)	1						GGGAAGAAGTAGCCCCAGGTG	0.542000														168			10		0	0	0.004990	0	0
PSG3	5671	broad.mit.edu	37	19	43237192	43237192	+	Silent	SNP	G	T	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr19:43237192G>T	uc002oue.3	-	2	585	c.453C>A	c.(451-453)atC>atA	p.I151I	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	151	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGCTGCTGGAGATGGAGGGCT	0.522000														139			92		7.30829e-53	9.60753e-53	0.003610	1	0
ARHGAP29	9411	broad.mit.edu	37	1	94668261	94668261	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr1:94668261C>A	uc001dqj.4	-	10	1351	c.982G>T	c.(982-984)Gca>Tca	p.A328S	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Missense_Mutation_p.A328S	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	328					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AATAATTTTGCCTTTTTGAGA	0.388000														41			22		0.000229342	0.00026833	0.001882	1	0
RPL23AP32	56969	broad.mit.edu	37	2	54756736	54756736	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr2:54756736T>C	uc010yot.1	+	0	378	c.254T>C	c.(253-255)tTt>tCt	p.F85S	SPTBN1_uc002rxu.3_Intron|SPTBN1_uc002rxv.1_Intron					Homo sapiens ribosomal protein L23a pseudogene 32 (RPL23AP32), non-coding RNA.																		ACCACTGAGTTTGCCATGAAG	0.483000														45			3		0	0	0.004672	0	0
KCNQ1	3784	broad.mit.edu	37	11	2466713	2466713	+	Splice_Site	SNP	G	A	A			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr11:2466713G>A	uc001lwn.3	+	1	494	c.386_splice	c.e1+1	p.V129_splice	KCNQ1_uc009ydo.1_Splice_Site_p.V129_splice	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	129					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CCACTTCGCCGTGTGAGTATC	0.682000														15			10		0	0	0.006214	0	0
AFM	173	broad.mit.edu	37	4	74364944	74364944	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr4:74364944T>C	uc003hhb.3	+	10	1434	c.1403T>C	c.(1402-1404)tTt>tCt	p.F468S		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	468	Albumin 3.				vitamin transport		vitamin E binding	p.E467*(2)|p.E467K(1)|p.E467Q(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGTGAAGAGTTTGCCTGTGTT	0.403000														27			15		0	0	0.003163	0	0
CILP	8483	broad.mit.edu	37	15	65496681	65496681	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr15:65496681A>T	uc002aon.2	-	5	1025	c.844T>A	c.(844-846)Ttt>Att	p.F282I		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	282					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						ATGGGGGCAAACTTGACCTTT	0.527000														65			46		0	0	0.003610	0	0
DDX5	1655	broad.mit.edu	37	17	62500170	62500170	+	Silent	SNP	T	C	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr17:62500170T>C	uc010deh.2	-	3	415	c.372A>G	c.(370-372)ggA>ggG	p.G124G	CEP95_uc002jem.3_5'Flank|CEP95_uc002jen.3_5'Flank|CEP95_uc010wqb.2_5'Flank|DDX5_uc002jek.2_Silent_p.G124G|DDX5_uc002jej.2_Silent_p.G19G|DDX5_uc010wqa.1_Intron|MIR5047_uc021ubs.1_5'Flank|DDX5_uc002jel.1_5'Flank	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	124					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|mRNA binding|protein binding|transcription cofactor activity	p.Q123H(1)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CAACTGGCCATCCCTGAGCTT	0.398000			T	ETV4	prostate									59			88		0	0	0.003610	0	0
RASEF	158158	broad.mit.edu	37	9	85597649	85597649	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr9:85597649A>C	uc004amo.1	-	16	2427	c.2166T>G	c.(2164-2166)aaT>aaG	p.N722K		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	722					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	GTP binding|calcium ion binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCCCGGTTAGATTGGTAATGG	0.433000														147			68		0	0	0.003610	0	0
KPRP	448834	broad.mit.edu	37	1	152733695	152733695	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr1:152733695G>A	uc001fal.1	+	1	1689	c.1631G>A	c.(1630-1632)gGc>gAc	p.G544D	KPRP_uc021ozf.1_Missense_Mutation_p.G544D	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	544						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGGTGCTGGCTGTGGGCCT	0.577000														55			43		0	0	0.003610	0	0
HEATR5B	54497	broad.mit.edu	37	2	37280725	37280725	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr2:37280725C>A	uc002rpp.1	-	16	2521	c.2425G>T	c.(2425-2427)Gaa>Taa	p.E809*		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	809							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TTAACACATTCAGCAAAGTGA	0.328000														18			8		5.18039e-06	6.12228e-06	0.003080	1	0
NID1	4811	broad.mit.edu	37	1	236195870	236195870	+	Silent	SNP	A	G	G			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr1:236195870A>G	uc001hxo.3	-	5	1470	c.1368T>C	c.(1366-1368)acT>acC	p.T456T	NID1_uc009xgd.3_Silent_p.T456T	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	456	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding	p.T456S(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	AGTGGAGGTCAGTGTTCTCAA	0.537000														35			21		0	0	0.001523	0	0
NLRP6	171389	broad.mit.edu	37	11	281108	281108	+	Silent	SNP	G	C	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr11:281108G>C	uc010qvs.2	+	3	1374	c.1374G>C	c.(1372-1374)gcG>gcC	p.A458A	NLRP6_uc010qvt.2_Silent_p.A458A	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	458	NACHT.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GACGCAGGGCGCAGTTTGCCG	0.662000														101			60		0	0	0.003610	0	0
BCL9	607	broad.mit.edu	37	1	147086309	147086309	+	Silent	SNP	A	C	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr1:147086309A>C	uc001epq.3	+	5	1194	c.454A>C	c.(454-456)Agg>Cgg	p.R152R	BCL9_uc010ozr.1_Silent_p.R78R	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	152					Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TACAGCCCCCAGGTCTTCTAC	0.498000			T	"""IGH@, IGL@"""	B-ALL									36			22		0	0	0.004656	0	0
TMTC3	160418	broad.mit.edu	37	12	88548132	88548132	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr12:88548132A>G	uc001tau.3	+	3	696	c.476A>G	c.(475-477)tAt>tGt	p.Y159C	TMTC3_uc009zsm.2_Non-coding_Transcript	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 3 (TMTC3), mRNA.	159						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TTTTTGTCATATACCAGATCA	0.318000														38			21		0	0	0.003954	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070113	141070113	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr9:141070113T>C	uc010ncq.3	+	3	1193	c.353T>C	c.(352-354)gTg>gCg	p.V118A						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																		ATGGACTCTGTGCGCTCGGGG	0.701000														70			16		0	0	0.006122	0	0
X97876	0	broad.mit.edu	37	9	66499867	66499867	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr9:66499867T>C	uc004aee.1	+	0	677	c.677T>C	c.(676-678)cTg>cCg	p.L226P	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		TTCACTTTGCTGGTGAGCCAG	0.567000														28			4		0	0	0.001984	0	0
ASTN2	23245	broad.mit.edu	37	9	119495750	119495750	+	Missense_Mutation	SNP	T	A	A	rs150944935		TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr9:119495750T>A	uc004bjt.2	-	12	2397	c.2296A>T	c.(2296-2298)Atc>Ttc	p.I766F	ASTN2_uc022bml.1_Missense_Mutation_p.I462F|ASTN2_uc022bmm.1_Missense_Mutation_p.I466F	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	817						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGCAGCGGGATCACCAACAGC	0.602000														131			15		0	0	0.002450	0	0
FAM105A	54491	broad.mit.edu	37	5	14609077	14609077	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr5:14609077T>C	uc003jfj.3	+	6	961	c.848T>C	c.(847-849)tTc>tCc	p.F283S		NM_019018	NP_061891	Q9NUU6	F105A_HUMAN	Homo sapiens family with sequence similarity 105, member A (FAM105A), mRNA.	283										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					CCTTTGAGCTTCATGATGAAT	0.433000														112			67		0	0	0.003610	0	0
PALM	5064	broad.mit.edu	37	19	746543	746543	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr19:746543T>G	uc002lpm.1	+	8	1087	c.893T>G	c.(892-894)gTc>gGc	p.V298G	PALM_uc002lpn.1_Missense_Mutation_p.V254G|PALM_uc010xfu.1_Missense_Mutation_p.V163G	NM_002579	NP_002570	O75781	PALM_HUMAN	Homo sapiens paralemmin (PALM), transcript variant 1, mRNA.	298					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane		p.P297S(1)		endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		GAGCCCCCGGTCACAATGATC	0.667000														30			14		0	0	0.006122	0	0
ECD	11319	broad.mit.edu	37	10	74906091	74906091	+	Missense_Mutation	SNP	C	G	G	rs147908494	byFrequency	TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr10:74906091C>G	uc009xqx.3	-	8	1313	c.1070G>C	c.(1069-1071)cGg>cCg	p.R357P	ECD_uc001jtn.3_Missense_Mutation_p.R357P|ECD_uc009xqy.3_Missense_Mutation_p.R314P|ECD_uc001jto.3_Missense_Mutation_p.R56P	NM_001135752	NP_001129224	O95905	SGT1_HUMAN	Homo sapiens ecdysoneless homolog (Drosophila) (ECD), transcript variant 2, mRNA.	357					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					TAGCCTTTCCCGGTACTGAGC	0.388000														29			6		0	0	0.001984	0	0
NOV	4856	broad.mit.edu	37	8	120429171	120429171	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr8:120429171G>C	uc003yoq.2	+	1	493	c.272G>C	c.(271-273)cGc>cCc	p.R91P		NM_002514	NP_002505	P48745	NOV_HUMAN	Homo sapiens nephroblastoma overexpressed gene (NOV), mRNA.	91	IGFBP N-terminal.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TACTGTGATCGCAGCGCGGAC	0.612000											OREG0018940	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			15		0	0	0.008871	0	0
RPL23AP32	56969	broad.mit.edu	37	2	54756737	54756737	+	Silent	SNP	T	C	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr2:54756737T>C	uc010yot.1	+	0	379	c.255T>C	c.(253-255)ttT>ttC	p.F85F	SPTBN1_uc002rxu.3_Intron|SPTBN1_uc002rxv.1_Intron					Homo sapiens ribosomal protein L23a pseudogene 32 (RPL23AP32), non-coding RNA.																		CCACTGAGTTTGCCATGAAGA	0.478000														45			3		0	0	0.004672	0	0
SRL	6345	broad.mit.edu	37	16	4245669	4245669	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr16:4245669A>C	uc002cvz.4	-	4	508	c.495T>G	c.(493-495)ttT>ttG	p.F165L	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	624	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						AATTCTGGCCAAACTTCTCAA	0.527000														58			138		0	0	0.003610	0	0
MIER1	57708	broad.mit.edu	37	1	67423741	67423741	+	Splice_Site	SNP	G	C	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr1:67423741G>C	uc001dde.2	+	5	474	c.340_splice	c.e5-1	p.E114_splice	MIER1_uc010opf.1_Splice_Site_p.E78_splice|MIER1_uc009way.2_Splice_Site_p.E78_splice|MIER1_uc010opg.1_Splice_Site_p.E78_splice|MIER1_uc001ddf.2_Splice_Site_p.E78_splice|MIER1_uc001ddc.2_Splice_Site_p.E114_splice|MIER1_uc001ddg.2_Splice_Site_p.E34_splice|MIER1_uc001ddh.2_Splice_Site|MIER1_uc001ddj.1_Splice_Site_p.E61_splice|MIER1_uc001ddi.2_Splice_Site_p.E61_splice	NM_001077700	NP_001139584	Q8N108	MIER1_HUMAN	Homo sapiens mesoderm induction early response 1 homolog (Xenopus laevis) (MIER1), transcript variant 2, mRNA.	85	Glu-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						GATTTATTTAGGAAGGCGACA	0.373000														29			13		0	0	0.001855	0	0
HERC1	8925	broad.mit.edu	37	15	64005696	64005696	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr15:64005696G>C	uc002amp.3	-	22	4467	c.4319C>G	c.(4318-4320)gCt>gGt	p.A1440G	HERC1_uc010uil.1_Missense_Mutation_p.A424G	NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	1440					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTTGCATGCAGCAGTGTACAC	0.537000														49			30		0	0	0.001786	0	0
AK304826	0	broad.mit.edu	37	16	18442416	18442416	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr16:18442416A>G	uc010bvw.2	-	5	958	c.302T>C	c.(301-303)cTc>cCc	p.L101P	NPIP_uc021tdy.1_Intron					SubName: Full=cDNA FLJ59085, highly similar to Polycystin-1;																		GGGGGCCCCGAGTAGCCCTGG	0.692000														40			4		0	0	0.000602	0	0
BIRC6	57448	broad.mit.edu	37	2	32726845	32726845	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr2:32726845G>A	uc010ezu.3	+	46	9231	c.9097G>A	c.(9097-9099)Ggg>Agg	p.G3033R		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	3033					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)					CATATCAGTTGGGGATGGATT	0.363000														82			21		0	0	0.001882	0	0
UNC5D	137970	broad.mit.edu	37	8	35541184	35541184	+	Silent	SNP	C	T	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr8:35541184C>T	uc003xjr.2	+	4	1018	c.690C>T	c.(688-690)acC>acT	p.T230T	UNC5D_uc003xjs.2_Silent_p.T225T|UNC5D_uc003xjt.1_5'UTR	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	230	Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity	p.T225T(1)|p.A229D(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GAAATTACACCTGCATGGCAG	0.537000														33			21		0	0	0.008871	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49377875	49377875	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr19:49377875G>A	uc002pky.4	+	1	1654	c.1385G>A	c.(1384-1386)gGa>gAa	p.G462E		NM_014330	NP_055145	O75807	PR15A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15A (PPP1R15A), mRNA.	462	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GCAGCCTTGGGAGAAGCTGAG	0.562000														66			28		0	0	0.005443	0	0
HECTD1	25831	broad.mit.edu	37	14	31598378	31598378	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr14:31598378C>A	uc001wrc.1	-	24	4688	c.4199G>T	c.(4198-4200)gGt>gTt	p.G1400V	HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.G868V	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	1400	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTTGGTCGAACCCAAGCTGAT	0.468000														139			73		3.1711e-36	4.12242e-36	0.003610	1	0
ADK	132	broad.mit.edu	37	10	76468112	76468112	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr10:76468112T>C	uc001jwi.3	+	10	1092	c.998T>C	c.(997-999)cTg>cCg	p.L333P	ADK_uc010qlb.2_Missense_Mutation_p.L276P|ADK_uc001jwj.3_Missense_Mutation_p.L316P|ADK_uc010qlc.2_Missense_Mutation_p.L298P	NM_006721	NP_006712	P55263	ADK_HUMAN	Homo sapiens adenosine kinase (ADK), transcript variant 2, mRNA.	333					purine base metabolic process|purine ribonucleoside salvage	cytosol	ATP binding|adenosine kinase activity|metal ion binding|phosphotransferase activity, alcohol group as acceptor			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	GACAAGCCTCTGACTGAATGT	0.453000														93			53		0	0	0.003610	0	0
FAM123B	139285	broad.mit.edu	37	X	63412033	63412033	+	Silent	SNP	A	G	G			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chrX:63412033A>G	uc022byb.1	-	0	1134	c.1134T>C	c.(1132-1134)gaT>gaC	p.D378D	FAM123B_uc004dvo.3_Silent_p.D378D	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	378	Glu-rich.				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						cctcctcGTCATCATCATCTG	0.522000														70			5		0	0	0.001984	0	0
CELF5	60680	broad.mit.edu	37	19	3293390	3293390	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr19:3293390G>T	uc002lxm.3	+	11	1441	c.1404G>T	c.(1402-1404)atG>atT	p.M468I	CELF5_uc010dtj.2_3'UTR|CELF5_uc002lxl.2_3'UTR|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA.	468	RRM 3.				mRNA processing	cytoplasm|nucleus	RNA binding|nucleotide binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						AGATCGGCATGAAGAGGCTCA	0.642000														81			5		0.00116845	0.0013145	0.001168	1	0
LEF1	51176	broad.mit.edu	37	4	109084775	109084775	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr4:109084775A>C	uc003hyt.2	-	2	1552	c.363T>G	c.(361-363)aaT>aaG	p.N121K	LEF1_uc011cfj.1_Missense_Mutation_p.N6K|LEF1_uc011cfk.2_Missense_Mutation_p.N53K|LEF1_uc003hyu.2_Missense_Mutation_p.N121K|LEF1_uc003hyv.2_Missense_Mutation_p.N121K|LEF1_uc010imb.2_Non-coding_Transcript	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	Homo sapiens lymphoid enhancer-binding factor 1 (LEF1), transcript variant 1, mRNA.	121	Pro-rich.				T-helper 1 cell differentiation|canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of DNA binding|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	cytoplasm|protein-DNA complex|transcription factor complex	C2H2 zinc finger domain binding|DNA bending activity|armadillo repeat domain binding|beta-catenin binding|caspase inhibitor activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		ATGGGTCGTTATTCATATTTG	0.428000														55			37		0	0	0.004289	0	0
AFF1	4299	broad.mit.edu	37	4	88029422	88029422	+	Silent	SNP	A	T	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr4:88029422A>T	uc011ccz.2	+	10	1763	c.1488A>T	c.(1486-1488)tcA>tcT	p.S496S	AFF1_uc003hqj.4_Silent_p.S489S|AFF1_uc003hqk.4_Silent_p.S489S|AFF1_uc011cda.2_Silent_p.S127S	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	489						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AGAGCAGTTCAAGTGACAGCG	0.542000														55			8		0	0	0.003080	0	0
LIN28B	389421	broad.mit.edu	37	6	105405976	105405976	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr6:105405976G>A	uc003pqv.1	+	1	216	c.13G>A	c.(13-15)Ggg>Agg	p.G5R	LIN28B_uc010kda.1_5'UTR	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN	Homo sapiens lin-28 homolog B (C. elegans) (LIN28B), mRNA.	5					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|protein binding|zinc ion binding	p.G4S(1)		large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				CTTCTCAGGCGGGGCTAGCAA	0.517000														100			4		0	0	0.000248	0	0
USP33	23032	broad.mit.edu	37	1	78163088	78163088	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr1:78163088C>A	uc001dht.3	-	24	3090	c.2743G>T	c.(2743-2745)Gtt>Ttt	p.V915F	USP33_uc001dhs.3_3'UTR|USP33_uc001dhu.3_Missense_Mutation_p.V884F	NM_015017	NP_963918	Q8TEY7	UBP33_HUMAN	Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA.	915	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	VCB complex|perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CGCAGGATAACTTCAGGCCCT	0.373000														64			35		4.92203e-23	6.25953e-23	0.006230	1	0
DDX50	79009	broad.mit.edu	37	10	70670998	70670998	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr10:70670998C>T	uc001jou.3	+	3	742	c.635C>T	c.(634-636)cCa>cTa	p.P212L	DDX50_uc001jot.3_Missense_Mutation_p.P212L	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA.	212	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AGCCGCTCACCAAAGGTAATC	0.388000														80			5		0	0	0.001984	0	0
SLC40A1	30061	broad.mit.edu	37	2	190428768	190428768	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr2:190428768G>A	uc002uqp.4	-	6	1295	c.944C>T	c.(943-945)gCt>gTt	p.A315V		NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA.	315					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			ATAAAGGAAAGCAAGACCCAT	0.532000														30			21		0	0	0.001882	0	0
PCF11	51585	broad.mit.edu	37	11	82877707	82877707	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr11:82877707A>C	uc001ozx.4	+	4	2113	c.1768A>C	c.(1768-1770)Agt>Cgt	p.S590R	PCF11_uc010rsu.1_Missense_Mutation_p.S590R	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	590					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AAACTGGCAAAGTTCCAAGTC	0.373000														72			41		0	0	0.002852	0	0
NRAP	4892	broad.mit.edu	37	10	115381720	115381720	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr10:115381720C>T	uc001lal.3	-	23	2841	c.2677G>A	c.(2677-2679)Gta>Ata	p.V893I	NRAP_uc009xyb.3_Intron|NRAP_uc001laj.3_Missense_Mutation_p.V893I|NRAP_uc001lak.3_Missense_Mutation_p.V858I	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	893						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTGTAGCCTACGTCTGTGGCT	0.522000														84			45		0	0	0.003610	0	0
RYR1	6261	broad.mit.edu	37	19	38976604	38976604	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr19:38976604C>T	uc002oit.3	+	33	5439	c.5309C>T	c.(5308-5310)tCg>tTg	p.S1770L	RYR1_uc002oiu.3_Missense_Mutation_p.S1770L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1770	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTCACCACTTCGCTGAGGCCC	0.682000														38			36		0	0	0.004878	0	0
NLRP3	114548	broad.mit.edu	37	1	247597496	247597496	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr1:247597496G>T	uc001icr.3	+	6	2557	c.2419G>T	c.(2419-2421)Gac>Tac	p.D807Y	NLRP3_uc001ics.3_Missense_Mutation_p.D807Y|NLRP3_uc001icu.3_Missense_Mutation_p.D807Y|NLRP3_uc001icw.3_Missense_Mutation_p.D750Y|NLRP3_uc001icv.3_Missense_Mutation_p.D750Y|NLRP3_uc010pyw.2_Missense_Mutation_p.D785Y	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	807					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGACCTGAGTGACAACGCCCT	0.577000														63			35		3.11337e-16	3.87516e-16	0.002836	1	0
METTL4	64863	broad.mit.edu	37	18	2554953	2554953	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr18:2554953G>C	uc002klh.4	-	3	1324	c.544C>G	c.(544-546)Cag>Gag	p.Q182E	METTL4_uc010dkj.3_5'UTR	NM_022840	NP_073751	Q8N3J2	METL4_HUMAN	Homo sapiens methyltransferase like 4 (METTL4), mRNA.	182					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CCCTTGTCCTGTTTTTCAAAA	0.388000														33			53		0	0	0.003610	0	0
NLK	51701	broad.mit.edu	37	17	26490600	26490600	+	Silent	SNP	A	G	G			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr17:26490600A>G	uc010crj.3	+	4	995	c.783A>G	c.(781-783)ttA>ttG	p.L261L		NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	Homo sapiens nemo-like kinase (NLK), mRNA.	261	Protein kinase.				Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CTGGCATTTTACATCGAGACA	0.318000														21			12		0	0	0.001855	0	0
FASN	2194	broad.mit.edu	37	17	80038618	80038618	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr17:80038618C>T	uc002kdu.3	-	38	6893	c.6776G>A	c.(6775-6777)aGc>aAc	p.S2259N	FASN_uc002kdv.1_Non-coding_Transcript	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	2259	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGAGGCCAGGCTGTGGAACAC	0.687000														20			6		0	0	0.001984	0	0
TRIP13	9319	broad.mit.edu	37	5	916037	916037	+	Silent	SNP	C	T	T	rs147247158		TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr5:916037C>T	uc003jbr.3	+	11	1297	c.1152C>T	c.(1150-1152)agC>agT	p.S384S		NM_004237	NP_004228	Q15645	PCH2_HUMAN	Homo sapiens thyroid hormone receptor interactor 13 (TRIP13), transcript variant 1, mRNA.	384					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			AGGGCCTCAGCGGCCGGGTCC	0.537000														233			6		0	0	0.001984	0	0
CARD11	84433	broad.mit.edu	37	7	2963967	2963967	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr7:2963967A>T	uc003smv.3	-	14	2174	c.1840T>A	c.(1840-1842)Tcc>Acc	p.S614T		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	614					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGGATGGAGGAGGGTCCGAAG	0.612000			Mis		DLBCL									42			22		0	0	0.003330	0	0
PAPPA	5069	broad.mit.edu	37	9	118969850	118969850	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr9:118969850C>T	uc004bjn.3	+	2	1975	c.1594C>T	c.(1594-1596)Cca>Tca	p.P532S	PAPPA_uc011lxp.1_Missense_Mutation_p.P325S|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	532	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AGCAACTTGGCCATGGGACAA	0.433000														40			21		0	0	0.001523	0	0
COL8A1	1295	broad.mit.edu	37	3	99513269	99513269	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr3:99513269C>T	uc003dti.1	+	2	655	c.527C>T	c.(526-528)cCt>cTt	p.P176L	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.P175L|COL8A1_uc003dth.1_Missense_Mutation_p.P175L	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	175	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						ATGGGCATGCCTGGGGCAAAA	0.552000														7			36		0	0	0.005524	0	0
HCRTR2	3062	broad.mit.edu	37	6	55039406	55039406	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr6:55039406G>T	uc003pcl.3	+	0	336	c.21G>T	c.(19-21)gaG>gaT	p.E7D	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzu.1_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	7					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.E7K(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCAAATTGGAGGACTCCCCCC	0.567000														102			4		0.000602214	0.000684069	0.000602	1	0
VPRBP	9730	broad.mit.edu	37	3	51456171	51456171	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr3:51456171G>T	uc003dbe.2	-	14	3422	c.3237C>A	c.(3235-3237)aaC>aaA	p.N1079K	VPRBP_uc021wys.1_Missense_Mutation_p.N1078K|VPRBP_uc003dbf.1_Missense_Mutation_p.N408K	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	1132					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		AGTTGTGACAGTTATAGCTGG	0.502000														29			134		3.17917e-66	4.22686e-66	0.003610	1	0
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	A	A			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr9:20414346G>A	uc003zoe.2	-	4	757	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_uc011lne.1_Silent_p.S134S|MLLT3_uc011lnf.1_Silent_p.S163S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	166	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S166S(8)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527000			T	MLL	ALL									67			4		0	0	0.000248	0	0
PIAS4	51588	broad.mit.edu	37	19	4013072	4013072	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr19:4013072A>C	uc002lzg.3	+	1	189	c.179A>C	c.(178-180)gAg>gCg	p.E60A		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	Homo sapiens protein inhibitor of activated STAT, 4 (PIAS4), mRNA.	60					Wnt receptor signaling pathway|positive regulation of protein sumoylation|transcription, DNA-dependent	PML body|cytoplasm	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGATCAAGGAGCTGTACGAG	0.632000														40			37		0	0	0.003755	0	0
FAM135B	51059	broad.mit.edu	37	8	139151264	139151264	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr8:139151264C>T	uc003yuy.3	-	17	4037	c.3866G>A	c.(3865-3867)cGc>cAc	p.R1289H	FAM135B_uc003yux.3_Missense_Mutation_p.R1190H|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1289								p.R1289G(1)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GAAACATTTGCGCAAATCAGC	0.438000										HNSCC(54;0.14)				83			4		0	0	0.001168	0	0
FBXW9	84261	broad.mit.edu	37	19	12807385	12807385	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr19:12807385G>T	uc010dyx.2	-	0	11	c.11C>A	c.(10-12)cCc>cAc	p.P4H	FBXW9_uc010xmp.2_Non-coding_Transcript|FBXW9_uc002mum.1_Missense_Mutation_p.P4H	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	Homo sapiens F-box and WD repeat domain containing 9 (FBXW9), mRNA.	4							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CCGCCCTAGGGGAAGCTCCAT	0.662000														52			25		6.32553e-13	7.70924e-13	0.004656	1	0
DPF2	5977	broad.mit.edu	37	11	65113439	65113439	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr11:65113439T>C	uc001odm.3	+	7	947	c.814T>C	c.(814-816)Tac>Cac	p.Y272H	DPF2_uc010roe.2_Intron	NM_006268	NP_006259	Q92785	REQU_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 2 (DPF2), mRNA.	272					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						GCCCAACAACTACTGTGACTT	0.537000														110			82		0	0	0.003610	0	0
LRBA	987	broad.mit.edu	37	4	151827549	151827549	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr4:151827549delA	uc010ipj.3	-	11	1746	c.1502delT	c.(1501-1503)ttgfs	p.L501fs	LRBA_uc003ilu.4_Frame_Shift_Del_p.L501fs|LRBA_uc010ipk.1_Frame_Shift_Del_p.L420fs	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	501						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AAAGGCCAGCAAGGTTGAACT	0.333													---	85	---	---	36	---					
HOXA5	3202	broad.mit.edu	37	7	27182960	27182966	+	Frame_Shift_Del	DEL	CGGCTGG	-	-			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr7:27182960_27182966delCGGCTGG	uc003syn.2	-	0	322_328	c.261_267delCCAGCCG	c.(259-267)agccagccgfs	p.S87fs	HOXA-AS3_uc003syr.2_Intron	NM_019102	NP_061975	P20719	HXA5_HUMAN	Homo sapiens homeobox A5 (HOXA5), mRNA.	87					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						TGGACGTGGCCGGCTGGCTGTACCTGG	0.744													---	24	---	---	9	---					
CDH17	1015	broad.mit.edu	37	8	95158391	95158391	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr8:95158391delC	uc003ygh.2	-	14	2057	c.1932delG	c.(1930-1932)gggfs	p.G644fs	CDH17_uc011lgo.1_Frame_Shift_Del_p.G430fs|CDH17_uc011lgp.1_Frame_Shift_Del_p.G644fs	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	644	Cadherin 6.					integral to membrane	calcium ion binding	p.G643V(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCAAGGAAGACCCCCCTAAGG	0.438													---	53	---	---	24	---					
TRMT112	51504	broad.mit.edu	37	11	64084953	64084953	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr11:64084953delC	uc001nzt.3	-	0	81	c.46delG	c.(46-48)gtgfs	p.V16fs	PRDX5_uc001nzu.3_5'Flank|PRDX5_uc001nzv.3_5'Flank|PRDX5_uc001nzw.3_5'Flank	NM_016404	NP_057488	Q9UI30	TR112_HUMAN	Homo sapiens tRNA methyltransferase 11-2 homolog (S. cerevisiae) (TRMT112), mRNA.	16	TRM112.				peptidyl-glutamine methylation	protein complex	protein binding|protein methyltransferase activity			large_intestine(1)|upper_aerodigestive_tract(1)	2						CGGGACCCCACCCCCCGCACA	0.657													---	24	---	---	11	---					
FOXO1	2308	broad.mit.edu	37	13	41134463	41134467	+	Frame_Shift_Del	DEL	CAGTT	-	-			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr13:41134463_41134467delCAGTT	uc001uxl.4	-	1	1546_1550	c.1161_1165delAACTG	c.(1159-1167)ttaactgttfs	p.L387fs	FOXO1_uc010acc.1_Frame_Shift_Del_p.L202fs	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	Homo sapiens forkhead box O1 (FOXO1), mRNA.	387					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		TGGGTCGAAACAGTTAATGATGTTG	0.473													---	128	---	---	7	---					
NID2	22795	broad.mit.edu	37	14	52474565	52474565	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr14:52474565delA	uc001wzo.3	-	18	4077	c.3843delT	c.(3841-3843)tttfs	p.F1281fs	NID2_uc010tqs.2_Frame_Shift_Del_p.F1233fs|NID2_uc010tqt.1_Frame_Shift_Del_p.F1281fs	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	1281						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					agaaagggtcaaaggttaagc	0.403													---	41	---	---	21	---					
RBL2	5934	broad.mit.edu	37	16	53468508	53468508	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr16:53468508delC	uc002ehi.4	+	0	158	c.40delC	c.(40-42)cccfs	p.P14fs	RBL2_uc010vgv.1_5'Flank	NM_005611	NP_005602	Q08999	RBL2_HUMAN	Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.	14	Poly-Pro.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCCCCCGCCTCCCCCTCCGGC	0.746													---	8	---	---	4	---					
PPP1R9B	84687	broad.mit.edu	37	17	48226606	48226607	+	Frame_Shift_Ins	INS	-	G	G			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chr17:48226606_48226607insG	uc002iqh.4	-	1	1251_1252	c.1248_1249insC	c.(1246-1251)ccctacfs	p.P416fs		NM_032595	NP_115984	Q96SB3	NEB2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9B (PPP1R9B), mRNA.	422	Interacts with protein phosphatase 1 (By similarity).				RNA splicing|cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						TCGGGCTCGTAGGGGGGCTCCC	0.678													---	42	---	---	16	---					
GPRASP1	9737	broad.mit.edu	37	X	101912417	101912418	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-BQ-7058-01A-11D-1961-08	TCGA-BQ-7058-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041f174c-a781-487c-9e56-c867fb4aecfc	bd3d0c3b-1fb5-4164-96a9-7764d25ea84d	g.chrX:101912417_101912418delTC	uc010nod.3	+	2	4218_4219	c.3576_3577delTC	c.(3574-3579)attcgafs	p.I1192fs	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Frame_Shift_Del_p.I1192fs|GPRASP1_uc004ejj.4_Frame_Shift_Del_p.I1192fs|GPRASP1_uc004eji.4_Frame_Shift_Del_p.I1192fs|GPRASP1_uc022cbd.1_Frame_Shift_Del_p.I1192fs	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	1192	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAGATTTCATTCGAGATTCAGG	0.371													---	16	---	---	51	---					
