Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FAM47B	170062	broad.mit.edu	37	X	34962328	34962328	+	Silent	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:34962328G>A	uc004ddi.2	+	0	1416	c.1380G>A	c.(1378-1380)tcG>tcA	p.S460S		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	460										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GACACACATCGAGAAAACTCC	0.468000													46	55					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089467	113089467	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr2:113089467C>T	uc002thq.1	+	11	3366	c.2972C>T	c.(2971-2973)gCa>gTa	p.A991V		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	Homo sapiens zinc finger CCCH-type containing 6 (ZC3H6), mRNA.	991							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GATTCACATGCATCAAAGGGT	0.473000													15	18					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628282	29628282	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr20:29628282G>A	uc010ztl.1	+	2	226	c.194G>A	c.(193-195)gGg>gAg	p.G65E	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.G17E					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.I64T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATGAAGCAGGGGACATAGAA	0.373000													6	104					0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187615972	187615972	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr2:187615972G>A	uc002ups.3	+	4	948	c.836G>A	c.(835-837)cGt>cAt	p.R279H	FAM171B_uc002upr.1_Missense_Mutation_p.R279H	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	279						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CCTCTTCTACGTCTGAATGAT	0.363000													9	27					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17966763	17966763	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:17966763G>T	uc001ban.3	+	20	2397	c.2238G>T	c.(2236-2238)tgG>tgT	p.W746C	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.W707C|ARHGEF10L_uc001bao.3_Missense_Mutation_p.W707C|ARHGEF10L_uc001bap.3_Missense_Mutation_p.W702C|ARHGEF10L_uc001baq.3_Missense_Mutation_p.W507C|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.W519C|ARHGEF10L_uc001bar.3_Missense_Mutation_p.W449C|ARHGEF10L_uc009vpf.3_Non-coding_Transcript	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	746					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGATTTCCTGGGTCAACAGGT	0.572000													12	0					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090729	91090729	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:91090729C>T	uc004efk.2	+	0	1071	c.226C>T	c.(226-228)Cga>Tga	p.R76*	PCDH11X_uc004efl.2_Nonsense_Mutation_p.R76*|PCDH11X_uc010nmv.2_Nonsense_Mutation_p.R76*|PCDH11X_uc004efm.2_Nonsense_Mutation_p.R76*|PCDH11X_uc004efn.2_Nonsense_Mutation_p.R76*|PCDH11X_uc004efo.2_Nonsense_Mutation_p.R76*|PCDH11X_uc004efh.2_Nonsense_Mutation_p.R76*|PCDH11X_uc004efj.1_Nonsense_Mutation_p.R76*	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	76	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCCACTGATTCGAATTGAAGA	0.443000													52	102					0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47101057	47101057	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:47101057G>T	uc004dhp.3	+	8	1267	c.1267G>T	c.(1267-1269)Gag>Tag	p.E423*	USP11_uc004dhq.3_Nonsense_Mutation_p.E150*	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	423					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GAAGAAGAAGGAGTATGTGGA	0.567000													23	23					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6678426	6678426	+	Silent	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr19:6678426G>A	uc002mfm.3	-	38	4733	c.4671C>T	c.(4669-4671)gaC>gaT	p.D1557D		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1557	NTR.				G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ACTCGTCAAAGTCATTGGACA	0.582000													14	12					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84628909	84628909	+	Silent	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr7:84628909G>A	uc003uic.3	-	16	2221	c.2181C>T	c.(2179-2181)ctC>ctT	p.L727L	SEMA3D_uc010led.3_Silent_p.L727L|SEMA3D_uc003uib.3_Silent_p.L366L	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	727					cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.S726T(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AGTACTGGTCGAGGCTGAAGT	0.512000													20	42					0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20082165	20082165	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr3:20082165G>T	uc003cbq.3	+	0	642	c.196G>T	c.(196-198)Gga>Tga	p.G66*		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	Homo sapiens K(lysine) acetyltransferase 2B (KAT2B), mRNA.	66					N-terminal peptidyl-lysine acetylation|cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|PCAF complex|chromatin remodeling complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CACGGCCGAAGGACCGGGAGG	0.746000													5	17					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198950127	198950127	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr2:198950127A>T	uc010fsp.3	+	1	2284	c.1886A>T	c.(1885-1887)gAg>gTg	p.E629V	PLCL1_uc002uuv.4_Missense_Mutation_p.E550V	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	629	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAGTACCCAGAGGATTTTGTT	0.368000													7	24					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr20:29628243T>C	uc010ztl.1	+	2	187	c.155T>C	c.(154-156)tTg>tCg	p.L52S	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.L4S					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													6	133					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr20:29625941A>T	uc010ztl.1	+	1	127	c.95A>T	c.(94-96)gAt>gTt	p.D32V	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.D62V(2)|p.A32T(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													11	103					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83359667	83359667	+	Splice_Site	SNP	T	T	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:83359667T>A	uc004eej.2	-	17	1492	c.1456_splice	c.e17-1	p.V486_splice	RPS6KA6_uc011mqt.2_Splice_Site_p.V486_splice|RPS6KA6_uc011mqu.2_Splice_Site_p.V383_splice	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	486	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATCAAAGACCTACAAAAGAAC	0.294000													10	13					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153590696	153590696	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:153590696G>A	uc004fkk.2	-	17	2819	c.2570C>T	c.(2569-2571)aCg>aTg	p.T857M	FLNA_uc010nuu.1_Missense_Mutation_p.T857M	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	857					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTGGTGGGCGTGGCCTGCAG	0.637000													34	85					0	0	1	0	0
ICK	22858	broad.mit.edu	37	6	52884097	52884097	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr6:52884097T>G	uc003pbh.2	-	6	909	c.419A>C	c.(418-420)aAa>aCa	p.K140T	ICK_uc003pbi.2_Missense_Mutation_p.K140T|ICK_uc003pbj.3_Missense_Mutation_p.K140T	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA.	140	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					GTCTGCAATTTTCACAAGTTC	0.388000													8	27					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17419890	17419890	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr11:17419890C>T	uc001mnc.3	-	29	3875	c.3749G>A	c.(3748-3750)cGa>cAa	p.R1250Q		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1250	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	p.R1250Q(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	ACTTGCCATTCGGACTTCCAG	0.542000													24	17					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117491	117491	+	RNA	SNP	G	G	C			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrGL000205.1:117491G>C	uc002kgk.4	+	0		c.869G>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GTGCAGGTGGGCAGTGGCTAC	0.582000													8	51					0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55284834	55284834	+	Silent	SNP	A	A	G			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr19:55284834A>G	uc010erz.1	+	2	158	c.120A>G	c.(118-120)aaA>aaG	p.K40K	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Silent_p.K40K	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	40					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		GCCTGGTGAAATCAGAAGAGA	0.493000													6	222					0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455100	187455100	+	Missense_Mutation	SNP	C	C	T	rs148793802		TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr4:187455100C>T	uc003izd.1	-	1	814	c.796G>A	c.(796-798)Gcc>Acc	p.A266T		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	266					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	ACCATGCTGGCGGGGTCAGAG	0.507000													39	49					0	0	1	0	0
TREX2	11219	broad.mit.edu	37	X	152710335	152710335	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:152710335C>T	uc022chv.1	-	0	554	c.554G>A	c.(553-555)aGc>aAc	p.S185N	TREX2_uc010nud.2_Missense_Mutation_p.S185N|TREX2_uc011myp.2_Missense_Mutation_p.S185N|TREX2_uc010nue.2_Missense_Mutation_p.S227N|HAUS7_uc004fhl.3_Non-coding_Transcript|HAUS7_uc004fhm.3_Non-coding_Transcript	NM_080701	NP_542432	Q9BQ50	TREX2_HUMAN	Homo sapiens three prime repair exonuclease 2 (TREX2), mRNA.	228					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGGCTGCGCTTGGCTCTGC	0.736000								Editing and processing nucleases					12	4					0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50549834	50549834	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr19:50549834C>T	uc002prn.3	+	4	2371	c.2134C>T	c.(2134-2136)Cgt>Tgt	p.R712C	ZNF473_uc002prm.3_Missense_Mutation_p.R712C|ZNF473_uc010ybo.2_Missense_Mutation_p.R700C	NM_001006656	NP_056243	Q8WTR7	ZN473_HUMAN	Homo sapiens zinc finger protein 473 (ZNF473), transcript variant 2, mRNA.	712					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GAAAACGTTCCGTCAGAGCTC	0.502000													28	53					0	0	1	0	0
TUFM	7284	broad.mit.edu	37	16	28855116	28855116	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr16:28855116G>T	uc002drh.2	-	8	1274	c.1135C>A	c.(1135-1137)Cct>Act	p.P379T	NPIPL1_uc010vct.2_Intron|SH2B1_uc002dri.3_5'Flank	NM_003321	NP_003312	P49411	EFTU_HUMAN	Homo sapiens Tu translation elongation factor, mitochondrial (TUFM), nuclear gene encoding mitochondrial protein, mRNA.	376						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						AACATGACAGGCATGAAGTGG	0.577000													14	19					0	0	1	0	0
CLEC12A	160364	broad.mit.edu	37	12	10132100	10132100	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr12:10132100G>A	uc001qwq.3	+	3	417	c.386G>A	c.(385-387)cGt>cAt	p.R129H	CLEC12A_uc001qwr.4_Missense_Mutation_p.R119H|CLEC12A_uc001qws.4_Missense_Mutation_p.R86H|CLEC12A_uc001qwt.3_Missense_Mutation_p.R48H	NM_001207010	NP_001193939	Q5QGZ9	CL12A_HUMAN	Homo sapiens C-type lectin domain family 12, member A (CLEC12A), transcript variant 3, mRNA.	119						integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						AAATTATGTCGTGAGCTATAT	0.343000													14	9					0	0	1	0	0
ARHGAP11B	89839	broad.mit.edu	37	15	30938495	30938495	+	RNA	SNP	G	G	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr15:30938495G>T	uc010azv.1	+	10		c.1305G>T			ARHGAP11B_uc001zeu.3_Non-coding_Transcript|LOC100288637_uc001zev.3_Non-coding_Transcript			Q3KRB8	RHGBB_HUMAN	Homo sapiens Rho GTPase activating protein 11B (ARHGAP11B), mRNA.						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TCCTTTCCCCGCTGGTAGGCC	0.448000													10	9					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117561	117561	+	RNA	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrGL000205.1:117561C>T	uc002kgk.4	+	0		c.939C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GCATCCCGTCCGCAGCCGTGG	0.617000													4	30					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887612	12887612	+	Missense_Mutation	SNP	T	T	C	rs60558629		TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:12887612T>C	uc001auk.2	-	2	441	c.245A>G	c.(244-246)cAt>cGt	p.H82R		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	82								p.H82R(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGCACCCATGGGCCATAGC	0.488000													5	204					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52258048	52258048	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:52258048C>A	uc001ctc.4	-	27	3349	c.3027_splice	c.e27+1	p.V1009_splice	NRD1_uc009vzb.3_Splice_Site_p.V704_splice|NRD1_uc001cte.3_Splice_Site_p.V877_splice|NRD1_uc001ctd.4_Splice_Site_p.V941_splice|NRD1_uc001ctf.2_Splice_Site_p.V941_splice	NM_002525	NP_001229290	O43847	NRDC_HUMAN	Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.	940					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TATGCACTTACCACAAGCAGC	0.502000													14	23					0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55527145	55527145	+	Silent	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:55527145G>A	uc001cyf.2	+	10	2141	c.1779G>A	c.(1777-1779)gaG>gaA	p.E593E	PCSK9_uc010oom.2_Non-coding_Transcript	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	593					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GCCACAGGGAGGCCAGCATCC	0.652000													9	8					0	0	1	0	0
FAM86EP	348926	broad.mit.edu	37	4	3952899	3952899	+	RNA	SNP	A	A	T	rs17410906		TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr4:3952899A>T	uc011bvu.2	-	2		c.209T>A			FAM86EP_uc003ghn.3_Intron					Homo sapiens family with sequence similarity 86, member E, pseudogene (FAM86EP), non-coding RNA.																		AGCACCGGGCATACTTGACTG	0.557000													4	36					0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219508021	219508021	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr2:219508021T>C	uc002vin.3	-	7	3654	c.3218A>G	c.(3217-3219)aAt>aGt	p.N1073S	ZNF142_uc002vil.3_Missense_Mutation_p.N1034S|ZNF142_uc010fvt.3_Missense_Mutation_p.N910S|ZNF142_uc002vim.3_Missense_Mutation_p.N910S	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1073					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGAGTCCCCATTGCTCAACGG	0.602000													11	50					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166019317	166019317	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr2:166019317G>A	uc002ucx.3	-	7	1208	c.716C>T	c.(715-717)gCc>gTc	p.A239V	SCN3A_uc002ucy.3_Missense_Mutation_p.A239V|SCN3A_uc002ucz.3_Missense_Mutation_p.A239V|SCN3A_uc002uda.1_Missense_Mutation_p.A108V|SCN3A_uc002udb.1_Missense_Mutation_p.A108V	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	239						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CTGGATCAGGGCCCCCACAAT	0.453000													39	80					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1093658	1093658	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr5:1093658C>A	uc003jbu.3	-	2	398	c.332G>T	c.(331-333)cGg>cTg	p.R111L		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	111					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CTTGGCCTCCCGCCGCCGGCT	0.662000													4	1					0	0	1	0	0
IL2	3558	broad.mit.edu	37	4	123374885	123374885	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr4:123374885C>T	uc003ier.3	-	2	386	c.331G>A	c.(331-333)Gta>Ata	p.V111I		NM_000586	NP_000577	P60568	IL2_HUMAN	Homo sapiens interleukin 2 (IL2), mRNA.	111					T cell differentiation|anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of B cell proliferation|positive regulation of activated T cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity	p.V111L(2)		endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		AGAACTATTACGTTGATATTG	0.353000			T	TNFRSF17	intestinal T-cell lymphoma								16	18					0	0	1	0	0
EFCAB2	84288	broad.mit.edu	37	1	245246946	245246946	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:245246946G>T	uc001ibd.2	+	6	878	c.737G>T	c.(736-738)gGg>gTg	p.G246V	EFCAB2_uc001ibc.2_Missense_Mutation_p.G110V|EFCAB2_uc010pyo.1_Missense_Mutation_p.G120V|EFCAB2_uc010pyp.1_Missense_Mutation_p.G110V|EFCAB2_uc001ibe.2_Non-coding_Transcript			Q5VUJ9	EFCB2_HUMAN	Homo sapiens EF-hand calcium binding domain 2 (EFCAB2), transcript variant 3, non-coding RNA.	246	EF-hand 2.						calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2)	13	all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982)		OV - Ovarian serous cystadenocarcinoma(106;0.015)			GCTAAACGTGGGTTTCTTACT	0.294000													4	3					0	0	1	0	0
CSTF2	1478	broad.mit.edu	37	X	100079128	100079128	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:100079128C>A	uc004egh.3	+	5	642	c.584C>A	c.(583-585)aCa>aAa	p.T195K	CSTF2_uc010nnd.3_Missense_Mutation_p.T195K|CSTF2_uc004egi.3_Missense_Mutation_p.T195K|SNORA9_uc022caf.1_5'Flank	NM_001325	NP_001316	P33240	CSTF2_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa (CSTF2), mRNA.	195	Interactions with CSTF3 and SYMPK.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	RNA binding|nucleotide binding|protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						CATCGCCAGACAAATATCCCA	0.473000													30	84					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60758178	60758178	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr17:60758178C>T	uc002jad.3	+	16	2893	c.2491C>T	c.(2491-2493)Cgc>Tgc	p.R831C	MRC2_uc002jae.3_5'UTR|MRC2_uc002jaf.3_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	831					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GGAATGGCTGCGCTTCCAGGA	0.726000													13	39					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17750472	17750472	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:17750472A>G	uc011mix.2	+	8	5182	c.4844A>G	c.(4843-4845)tAc>tGc	p.Y1615C	NHS_uc004cxx.3_Missense_Mutation_p.Y1594C|NHS_uc004cxy.3_Missense_Mutation_p.Y1438C|NHS_uc004cxz.3_Missense_Mutation_p.Y1417C|NHS_uc004cya.3_Missense_Mutation_p.Y1317C	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	1594						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGCAGCCGCTACAGTGTCCGC	0.592000													64	50					0	0	1	0	0
RNMT	8731	broad.mit.edu	37	18	13741541	13741541	+	Silent	SNP	A	A	G			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr18:13741541A>G	uc002ksk.1	+	5	892	c.825A>G	c.(823-825)caA>caG	p.Q275Q	RNMT_uc002ksl.1_Silent_p.Q275Q|RNMT_uc002ksm.1_Silent_p.Q275Q|RNMT_uc010dlk.2_Silent_p.Q275Q|RNMT_uc010xae.1_Non-coding_Transcript	NM_003799	NP_003790	O43148	MCES_HUMAN	Homo sapiens RNA (guanine-7-) methyltransferase (RNMT), mRNA.	275					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	RNA binding|mRNA (guanine-N7-)-methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GTGACCCACAAATGTGTTTTG	0.348000													12	31					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr20:29628245G>A	uc010ztl.1	+	2	189	c.157G>A	c.(157-159)Gcc>Acc	p.A53T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.A5T					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													6	132					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38949535	38949535	+	Missense_Mutation	SNP	G	G	C			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr3:38949535G>C	uc021wvy.1	-	9	1577	c.1378C>G	c.(1378-1380)Ctc>Gtc	p.L460V		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	460					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TTACCAAAGAGCTTTCTCTTT	0.393000													32	42					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	881	881	+	RNA	SNP	A	A	G			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrGL000237.1:881A>G	uc011mgu.1	-	1		c.337T>C								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		cgtggctgccacaaccgcaga	0.582000													4	34					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176838076	176838076	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:176838076C>A	uc001glc.3	-	21	3763	c.3551G>T	c.(3550-3552)gGt>gTt	p.G1184V	ASTN1_uc001glb.1_Missense_Mutation_p.G1184V|ASTN1_uc001gld.1_Missense_Mutation_p.G1184V	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1192					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTGGGGGAACCCAGATCCAG	0.512000													29	46					0	0	1	0	0
OSTN	344901	broad.mit.edu	37	3	190967905	190967905	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr3:190967905G>A	uc011bsn.2	+	2	397	c.397G>A	c.(397-399)Ggc>Agc	p.G133S		NM_198184	NP_937827	P61366	OSTN_HUMAN	Homo sapiens osteocrin (OSTN), mRNA.	133					cell differentiation|multicellular organismal development|ossification		hormone activity			kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		AAATTCCAGAGGCTAATTGAT	0.368000													43	60					0	0	1	0	0
AKAP8L	26993	broad.mit.edu	37	19	15512057	15512057	+	Silent	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr19:15512057G>A	uc002naw.1	-	4	819	c.720C>T	c.(718-720)ggC>ggT	p.G240G	AKAP8L_uc002nax.1_Non-coding_Transcript|AKAP8L_uc010xoh.1_Silent_p.G179G|AKAP8L_uc002nay.1_Silent_p.G240G|AKAP8L_uc002naz.3_Silent_p.G88G	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8-like (AKAP8L), mRNA.	240						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCGGGAAGGCGCCCCCACCTC	0.642000													60	79					0	0	1	0	0
GALC	2581	broad.mit.edu	37	14	88411975	88411975	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr14:88411975C>T	uc001xvt.3	-	13	1699	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H	GALC_uc010tvw.1_Non-coding_Transcript|GALC_uc010tvy.2_Missense_Mutation_p.R508H|GALC_uc010tvx.2_Missense_Mutation_p.R505H|GALC_uc010tvz.1_Missense_Mutation_p.R475H	NM_000153	NP_000144	P54803	GALC_HUMAN	Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.	531			R -> C (in GLD).|R -> H (in GLD; infantile; significant reduction of activity).		carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGAACTTGGCGTAGCGTGAA	0.408000													24	28					0	0	1	0	0
AL117485	0	broad.mit.edu	37	22	18846113	18846113	+	RNA	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr22:18846113C>T	uc002zoe.3	+	4		c.2475C>T			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		ATCTCCTCCACGCACTGGCGC	0.612000													5	13					0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr2:95522772T>C	uc010fhp.3	-	0		c.49A>G						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.									p.E49G(1)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						GCGCTCCACCTCCGCGGCGTC	0.682000													4	71					0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52496399	52496399	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr19:52496399G>A	uc002pyf.2	-	6	2280	c.1963C>T	c.(1963-1965)Cga>Tga	p.R655*	AK128361_uc021uys.1_Silent_p.S17S|ZNF615_uc002pye.2_Nonsense_Mutation_p.R644*|ZNF615_uc002pyh.2_Nonsense_Mutation_p.R655*|ZNF615_uc010epi.2_Nonsense_Mutation_p.R651*|ZNF615_uc002pyg.2_Nonsense_Mutation_p.R536*|ZNF615_uc010ydg.2_Nonsense_Mutation_p.R649*	NM_001199324	NP_001186253	Q8N8J6	ZN615_HUMAN	Homo sapiens zinc finger protein 615 (ZNF615), transcript variant 1, mRNA.	644					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GTGTGAAATCGCTGATGTTGT	0.383000													89	44					0	0	1	0	0
FAM86EP	348926	broad.mit.edu	37	4	3952901	3952901	+	RNA	SNP	A	A	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr4:3952901A>T	uc011bvu.2	-	2		c.207T>A			FAM86EP_uc003ghn.3_Intron					Homo sapiens family with sequence similarity 86, member E, pseudogene (FAM86EP), non-coding RNA.																		CACCGGGCATACTTGACTGAC	0.552000													4	36					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr20:29625885A>T	uc010ztl.1	+	1	71	c.39A>T	c.(37-39)aaA>aaT	p.K13N	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.K43N(2)|p.V12V(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353000													6	94					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32933116	32933116	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr3:32933116G>A	uc003cff.3	+	3	2483	c.2420G>A	c.(2419-2421)cGc>cAc	p.R807H		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	807					multicellular organismal development	cytoplasm	zinc ion binding	p.R807C(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGGAAGGGCGCATCATTGTG	0.597000													4	116					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129822360	129822360	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr12:129822360G>A	uc009zyl.1	-	3	1446	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	373						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGCGCCATCCGCACTGGAGAG	0.592000													90	13					0	0	1	0	0
SQSTM1	8878	broad.mit.edu	37	5	179251284	179251284	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr5:179251284C>T	uc003mkw.4	+	3	729	c.634C>T	c.(634-636)Cgt>Tgt	p.R212C	SQSTM1_uc011dgr.2_Missense_Mutation_p.R128C|SQSTM1_uc011dgs.2_Missense_Mutation_p.R128C|SQSTM1_uc003mkx.3_Missense_Mutation_p.R128C	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	Homo sapiens sequestosome 1 (SQSTM1), transcript variant 1, mRNA.	212	Interaction with GABRR3 (By similarity).|LIM protein-binding (LB).				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	SH2 domain binding|protein kinase C binding|receptor tyrosine kinase binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACGTCCTCCTCGTGCAGGGGA	0.622000													19	29					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7709333	7709333	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr5:7709333C>T	uc003jdz.1	+	9	1478	c.1411C>T	c.(1411-1413)Cgg>Tgg	p.R471W	ADCY2_uc011cmo.1_Missense_Mutation_p.R291W	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	471					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.R471L(1)|p.R471Q(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGGAGAACGACGGAGCCCCCA	0.587000													15	24					0	0	1	0	0
HIST1H3G	8355	broad.mit.edu	37	6	26271424	26271424	+	Silent	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr6:26271424G>A	uc003nhi.3	-	0	189	c.189C>T	c.(187-189)atC>atT	p.I63I	BC079832_uc003nhj.3_5'Flank|HIST1H2BI_uc003nhk.3_5'Flank	NM_003534	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3g (HIST1H3G), mRNA.	63					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						GCAACTTGCGGATCAGCAGCT	0.617000													49	96					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625956	29625956	+	Missense_Mutation	SNP	G	G	A	rs147809085		TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr20:29625956G>A	uc010ztl.1	+	1	142	c.110G>A	c.(109-111)aGa>aAa	p.R37K	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.R67K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATTGGACCAAGAGAACAATGG	0.338000													4	99					0	0	1	0	0
LARP1B	55132	broad.mit.edu	37	4	129128488	129128488	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr4:129128488C>T	uc003iga.3	+	18	2628	c.2497C>T	c.(2497-2499)Ctt>Ttt	p.L833F	LARP1B_uc003igc.3_Missense_Mutation_p.L252F|LARP1B_uc010ioa.2_Non-coding_Transcript|LARP1B_uc003ige.3_Non-coding_Transcript|LARP1B_uc003igd.3_Non-coding_Transcript|LARP1B_uc003igf.3_Missense_Mutation_p.L33F	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA.	833							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TGACCCAAAACTTCAGGAATA	0.313000													10	9					0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703777	4703777	+	Silent	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr11:4703777G>A	uc001lzk.2	-	1	409	c.165C>T	c.(163-165)caC>caT	p.H55H	OR51E2_uc021qcr.1_Silent_p.H55H	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H55R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		ACATCGGAGCGTGCAGGCTGC	0.517000													6	77					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122420030	122420030	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr3:122420030G>A	uc003efq.4	+	5	2688	c.2629G>A	c.(2629-2631)Gtg>Atg	p.V877M	PARP14_uc021xdc.1_Missense_Mutation_p.V741M|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Missense_Mutation_p.V594M|PARP14_uc003efs.1_Missense_Mutation_p.V594M	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	877	Macro 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CTACCACCACGTGATCCATGC	0.577000													10	47					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77298882	77298882	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:77298882A>C	uc004ecx.4	+	20	4233	c.4073A>C	c.(4072-4074)aAt>aCt	p.N1358T		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	1358					ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						ATTCGGATAAATTTTGTCTTT	0.343000													32	53					0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70147405	70147405	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:70147405C>T	uc004dyn.3	-	6	1286	c.1112G>A	c.(1111-1113)cGt>cAt	p.R371H	SLC7A3_uc004dyo.3_Missense_Mutation_p.R371H	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	371					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGCAAGTACACGGAACAGGAG	0.587000													12	30					0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160137275	160137275	+	Missense_Mutation	SNP	G	G	C			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr3:160137275G>C	uc003fdh.3	+	11	1914	c.1801G>C	c.(1801-1803)Gat>Cat	p.D601H	IFT80_uc003fda.3_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.D365H|SMC4_uc003fdi.3_Missense_Mutation_p.D576H|SMC4_uc003fdj.3_Missense_Mutation_p.D601H|SMC4_uc010hwd.3_Missense_Mutation_p.D601H|SMC4_uc003fdl.3_Missense_Mutation_p.D304H	NM_001002800	NP_005487	Q9NTJ3	SMC4_HUMAN	Homo sapiens structural maintenance of chromosomes 4 (SMC4), transcript variant 2, mRNA.	601	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GAAAGTCCTTGATGCAATAAT	0.338000													66	39					0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109775014	109775014	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr6:109775014C>T	uc011eaq.2	-	2	641	c.350G>A	c.(349-351)cGg>cAg	p.R117Q	MICAL1_uc003ptj.3_Missense_Mutation_p.R98Q|MICAL1_uc003ptk.3_Missense_Mutation_p.R98Q|MICAL1_uc010kdr.3_Missense_Mutation_p.R98Q	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA.	98					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CACAGCGACCCGCAGCCCGCA	0.657000													66	35					0	0	1	0	0
UMOD	7369	broad.mit.edu	37	16	20352470	20352470	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr16:20352470T>G	uc002dhb.3	-	7	1748	c.1619A>C	c.(1618-1620)tAt>tCt	p.Y540S	UMOD_uc002dgz.3_Missense_Mutation_p.Y507S|UMOD_uc002dha.3_Missense_Mutation_p.Y507S	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	507	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGGTGTGGCATAGCAGTTGGT	0.542000													16	25					0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66499680	66499680	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr9:66499680C>A	uc004aee.1	+	0	490	c.490C>A	c.(490-492)Ccc>Acc	p.P164T	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		TCATGTTAACCCCTTCCCAGG	0.582000													7	36					0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47495700	47495700	+	Silent	SNP	T	T	C			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:47495700T>C	uc001cqt.3	+	1	466	c.216T>C	c.(214-216)atT>atC	p.I72I	CYP4X1_uc001cqr.3_Silent_p.I71I|CYP4X1_uc001cqs.3_Silent_p.I7I	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	72						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TTGAGGAAATTATTGAAAAAT	0.418000													33	40					0	0	1	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77042776	77042776	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr17:77042776G>A	uc002jwt.3	+	2	671	c.589_splice	c.e2+1	p.G197_splice	C1QTNF1_uc002jwp.3_Splice_Site_p.G99_splice|C1QTNF1_uc002jwq.3_Splice_Site_p.G17_splice|C1QTNF1_uc002jwr.4_Splice_Site_p.G109_splice|C1QTNF1_uc002jws.3_Splice_Site_p.G99_splice	NM_198594	NP_940996	Q9BXJ1	C1QT1_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 1 (C1QTNF1), mRNA.	99	C1q.					collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			TATCTTGAAAGGTCAGATGGC	0.627000											OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	60	110					0	0	1	0	0
RRP1	8568	broad.mit.edu	37	21	45217427	45217427	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr21:45217427G>A	uc002zds.2	+	5	640	c.547G>A	c.(547-549)Gag>Aag	p.E183K	RRP1_uc011aez.1_Missense_Mutation_p.E183K|RRP1_uc010gpl.1_Missense_Mutation_p.E81K|RRP1_uc010gpm.1_Missense_Mutation_p.E50K	NM_003683	NP_003674	P56182	RRP1_HUMAN	Homo sapiens ribosomal RNA processing 1 homolog (S. cerevisiae) (RRP1), mRNA.	183					rRNA processing	nucleolus|preribosome, small subunit precursor				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		AGTGGGCGCCGAGGAGGTGAG	0.637000													35	34					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	880	880	+	RNA	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrGL000237.1:880C>T	uc011mgu.1	-	1		c.338G>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		ccgtggctgccacaaccgcag	0.582000													4	34					0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15729877	15729877	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr16:15729877G>A	uc002ddr.3	-	2	674	c.467C>T	c.(466-468)tCt>tTt	p.S156F	KIAA0430_uc002ddq.3_Missense_Mutation_p.S155F|KIAA0430_uc010uzv.2_Missense_Mutation_p.S156F|KIAA0430_uc010uzw.2_Missense_Mutation_p.S156F|KIAA0430_uc010uzx.2_Missense_Mutation_p.S155F	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	155						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGAAGATGCAGACTGGAAAGC	0.512000													13	155					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677126	37677126	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr19:37677126T>A	uc002ofq.3	-	4	1565	c.1313A>T	c.(1312-1314)tAt>tTt	p.Y438F	ZNF585B_uc002ofr.1_Missense_Mutation_p.Y252F	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACCACATTTATAAGGTTTCTC	0.378000													15	169					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39262004	39262004	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr13:39262004G>T	uc001uwv.3	+	0	832	c.523G>T	c.(523-525)Gtc>Ttc	p.V175F		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	175					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGTGGAGGTGGTCTTCACCCA	0.677000													5	6					0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223402701	223402701	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:223402701C>T	uc001hnx.3	-	4	1388	c.754G>A	c.(754-756)Gga>Aga	p.G252R	SUSD4_uc001hny.4_Missense_Mutation_p.G252R|SUSD4_uc010puw.2_Missense_Mutation_p.G92R	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	252	Sushi 4.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		ACGAAATCTCCGTGACTCACC	0.532000													3	27					0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22848945	22848945	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr15:22848945T>C	uc001yuq.2	+	9	1122	c.992T>C	c.(991-993)aTt>aCt	p.I331T	TUBGCP5_uc001yur.4_Missense_Mutation_p.I331T|TUBGCP5_uc010axz.1_5'UTR	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	331					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CAGGAGTTCATTGATGAAGTC	0.458000													20	21					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr20:33345744C>T	uc002xav.3	-	7	3378	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_uc002xaw.3_Silent_p.Q269Q|NCOA6_uc021wcd.1_Silent_p.Q269Q|NCOA6_uc021wce.1_Silent_p.Q269Q|NCOA6_uc021wcf.1_Silent_p.Q269Q|NCOA6_uc010gew.1_Silent_p.Q226Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(29)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													6	125					0	0	1	0	0
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677		TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr2:131129929_131129934delGACGGG	uc002trc.3	+	12	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_uc002trb.3_In_Frame_Del_p.TG271del|PTPN18_uc002tre.3_In_Frame_Del_p.TG29del	NM_014369	NP_055184	Q99952	PTN18_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 18 (brain-derived) (PTPN18), transcript variant 1, mRNA.	378				Missing (in Ref. 1; CAA56105).		cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	p.T378_G379delTG(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777													8	7	---	---	---	---					
EIF4G1	1981	broad.mit.edu	37	3	184046479	184046480	+	Frame_Shift_Ins	INS	-	-	TACCTAGCGGA			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr3:184046479_184046480insTACCTAGCGGA	uc003fnp.3	+	26	4285_4286	c.4014_4015insTACCTAGCGGA	c.(4012-4017)ctctacfs	p.L1338fs	EIF4G1_uc010hxx.3_Frame_Shift_Ins_p.L1345fs|EIF4G1_uc003fnt.3_Frame_Shift_Ins_p.L1049fs|EIF4G1_uc010hxy.3_Frame_Shift_Ins_p.L1345fs|EIF4G1_uc003fnq.3_Frame_Shift_Ins_p.L1251fs|EIF4G1_uc003fnr.3_Frame_Shift_Ins_p.L1174fs|EIF4G1_uc003fns.3_Frame_Shift_Ins_p.L1298fs|EIF4G1_uc003fnv.4_Frame_Shift_Ins_p.L1339fs|EIF4G1_uc003fnw.3_Frame_Shift_Ins_p.L1345fs|EIF4G1_uc003fnx.3_Frame_Shift_Ins_p.L1143fs	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	1338	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.L1338L(2)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACGTGTGGCTCTACCTAGCGGA	0.525													12	284	---	---	---	---					
PKHD1L1	93035	broad.mit.edu	37	8	110457553	110457553	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr8:110457553delA	uc003yne.3	+	37	5559	c.5455delA	c.(5455-5457)aaafs	p.K1819fs		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1819	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGTGGGAAGTAAAGGCTTGGC	0.478										HNSCC(38;0.096)			20	50	---	---	---	---					
CA10	56934	broad.mit.edu	37	17	50008357	50008357	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr17:50008357delC	uc002itv.4	-	3	1026	c.290delG	c.(289-291)ggcfs	p.G97fs	CA10_uc002itw.4_Frame_Shift_Del_p.G91fs|CA10_uc002itx.4_Frame_Shift_Del_p.G91fs|CA10_uc002ity.4_Frame_Shift_Del_p.G91fs|CA10_uc002itz.2_Frame_Shift_Del_p.G91fs	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	91					brain development			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TACCTTCCTGCCCCCCGTGTT	0.493													8	407	---	---	---	---					
TK1	7083	broad.mit.edu	37	17	76171208	76171209	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr17:76171208_76171209delCG	uc002juw.2	-	5	645_646	c.435_436delCG	c.(433-438)agcgtgfs	p.S145fs		NM_003258	NP_003249	P04183	KITH_HUMAN	Homo sapiens thymidine kinase 1, soluble (TK1), mRNA.	145					DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|thymidine kinase activity|zinc ion binding			endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)			AGCTTCACCACGCTCTCGGCCA	0.614													21	80	---	---	---	---					
ARHGAP35	2909	broad.mit.edu	37	19	47424918	47424918	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr19:47424918delT	uc010ekv.3	+	0	2986	c.2986delT	c.(2986-2988)tttfs	p.F996fs		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	996					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										TTACAGCCTGTTTCGAGAAGA	0.483													16	41	---	---	---	---					
PRKX	5613	broad.mit.edu	37	X	3631199	3631200	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:3631199_3631200delGG	uc010nde.3	-	0	476_477	c.95_96delCC	c.(94-96)cccfs	p.P32fs		NM_005044	NP_005035	P51817	PRKX_HUMAN	Homo sapiens protein kinase, X-linked (PRKX), mRNA.	32							ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				CCTCAGGGCTGGGGCAGAGCGC	0.757													2	4	---	---	---	---					
