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
AADACL4	343066	broad.mit.edu	37	1	12726355	12726355	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:12726355G>A	uc001auf.3	+	3	833	c.833G>A	c.(832-834)tGg>tAg	p.W278*		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	278						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CCAGACGTCTGGAGGAAGTAC	0.532												
LAPTM5	7805	broad.mit.edu	37	1	31210478	31210478	+	Silent	SNP	G	G	A	rs144620246	byFrequency	TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:31210478G>A	uc001bsc.2	-	5	670	c.579C>T	c.(577-579)atC>atT	p.I193I		NM_006762	NP_006753	Q13571	LAPM5_HUMAN	Homo sapiens lysosomal protein transmembrane 5 (LAPTM5), mRNA.	193					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		TGATGAAGGCGATGGAAAAGA	0.542												
GJA9	81025	broad.mit.edu	37	1	39340374	39340374	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:39340374T>C	uc021olr.1	-	0	1397	c.1397A>G	c.(1396-1398)gAc>gGc	p.D466G	RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.3_5'Flank|MYCBP_uc021olq.1_Intron	NM_030772	NP_110399	P57773	CXA9_HUMAN	Homo sapiens gap junction protein, alpha 9, 59kDa (GJA9), mRNA.	466					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GTTTGGAATGTCAAGTGATTG	0.493												
DMBX1	127343	broad.mit.edu	37	1	46976216	46976216	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:46976216G>A	uc001cpx.3	+	1	253	c.238G>A	c.(238-240)Gct>Act	p.A80T	DMBX1_uc001cpw.3_Missense_Mutation_p.A75T	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	80	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGCGTTCACGGCTCAGCAGCT	0.582												
SPTA1	6708	broad.mit.edu	37	1	158647548	158647548	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:158647548C>G	uc001fst.1	-	6	1088	c.889G>C	c.(889-891)Gtt>Ctt	p.V297L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	297					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCAGAGGCAACAAGGTCTTTG	0.478												
USH2A	7399	broad.mit.edu	37	1	215848824	215848824	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:215848824C>T	uc001hku.1	-	62	12816	c.12429G>A	c.(12427-12429)tcG>tcA	p.S4143S		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4143	Fibronectin type-III 26.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.S4143S(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTGAGGCGCCGAGTGTGCAC	0.572										HNSCC(13;0.011)		
WDR26	80232	broad.mit.edu	37	1	224586247	224586247	+	Silent	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:224586247G>A	uc001hop.4	-	10	1808	c.1614C>T	c.(1612-1614)ggC>ggT	p.G538G	WDR26_uc001hoq.4_Silent_p.G522G|WDR26_uc021pjp.1_Non-coding_Transcript|MIR4742_uc021pjq.1_5'Flank	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN	Homo sapiens WD repeat domain 26 (WDR26), transcript variant 1, mRNA.	538						cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		AAGCTAATCGGCCATTTTTTG	0.274												
RYR2	6262	broad.mit.edu	37	1	237777926	237777926	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:237777926T>C	uc001hyl.1	+	36	5618	c.5498T>C	c.(5497-5499)aTc>aCc	p.I1833T		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1833	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATCATGGGCATCTTTCACAAC	0.498												
ARMC3	219681	broad.mit.edu	37	10	23235138	23235138	+	Silent	SNP	A	A	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr10:23235138A>G	uc001irm.4	+	2	197	c.114A>G	c.(112-114)gaA>gaG	p.E38E	ARMC3_uc010qcv.2_Silent_p.E38E|ARMC3_uc010qcw.2_Intron	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	38							binding	p.P37E(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATTCTCCAGAAGAGGAAATTT	0.303												
ARMC4	55130	broad.mit.edu	37	10	28283881	28283881	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr10:28283881G>A	uc009xky.3	-	1	289	c.191C>T	c.(190-192)gCg>gTg	p.A64V	ARMC4_uc001itz.3_Missense_Mutation_p.A64V	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	64							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGCTGAGGGCGCCAAACTTGT	0.358												
DNTT	1791	broad.mit.edu	37	10	98084132	98084132	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr10:98084132G>A	uc001kmf.3	+	5	1030	c.860G>A	c.(859-861)cGa>cAa	p.R287Q	DNTT_uc001kmg.3_Missense_Mutation_p.R287Q	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	287	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		AAATTTACACGAATGCAGAAA	0.453												
ITPRIP	85450	broad.mit.edu	37	10	106075308	106075308	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr10:106075308C>T	uc001kyf.3	-	2	955	c.502G>A	c.(502-504)Gtg>Atg	p.V168M	ITPRIP_uc001kye.3_Missense_Mutation_p.V168M|ITPRIP_uc001kyg.3_Missense_Mutation_p.V168M|ITPRIP_uc021pxv.1_Missense_Mutation_p.V168M	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	168						plasma membrane		p.V168M(2)		breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						AAGTCATCCACGAAGCCTTCC	0.622												
MRGPRX2	117194	broad.mit.edu	37	11	19077216	19077216	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr11:19077216A>G	uc001mph.3	-	1	822	c.734T>C	c.(733-735)cTa>cCa	p.L245P	MRGPRX2_uc021qer.1_Missense_Mutation_p.L245P	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	245					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	p.F244L(2)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CCATAATATTAGGAACCACTG	0.498												
C11orf94	143678	broad.mit.edu	37	11	45928455	45928455	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr11:45928455A>G	uc001nbs.4	-	1	177	c.140T>C	c.(139-141)cTg>cCg	p.L47P		NM_001080446	NP_001073915	C9JXX5	CK094_HUMAN	Homo sapiens chromosome 11 open reading frame 94 (C11orf94), mRNA.	47						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						CGAGAGTTCCAGGGGGGCGGA	0.617												
SMTNL1	219537	broad.mit.edu	37	11	57314061	57314061	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr11:57314061G>C	uc021qjh.1	+	5	1278	c.1276G>C	c.(1276-1278)Gac>Cac	p.D426H		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	426										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						TGACGCCTTTGACTACGCAGA	0.587												
NUMA1	4926	broad.mit.edu	37	11	71729532	71729532	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr11:71729532C>T	uc001orl.1	-	10	942	c.770G>A	c.(769-771)cGc>cAc	p.R257H	NUMA1_uc009ysw.1_5'Flank|NUMA1_uc001ork.1_Missense_Mutation_p.R257H|NUMA1_uc001orm.1_Missense_Mutation_p.R257H|NUMA1_uc001orn.2_5'Flank|NUMA1_uc009ysx.1_Missense_Mutation_p.R257H|NUMA1_uc001oro.1_Missense_Mutation_p.R257H|NUMA1_uc009ysy.2_Missense_Mutation_p.R257H|NUMA1_uc001orp.3_Missense_Mutation_p.R257H|NUMA1_uc001orq.3_Missense_Mutation_p.R257H	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	257					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCGGTCAATGCGCTGCTGCAT	0.557			T	RARA	APL							
ADAMTS20	80070	broad.mit.edu	37	12	43846340	43846340	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:43846340C>G	uc010skx.2	-	12	1919	c.1919G>C	c.(1918-1920)aGg>aCg	p.R640T		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	640	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGGAAGCCACCTCACATTAGA	0.368												
DCTN2	10540	broad.mit.edu	37	12	57939864	57939864	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:57939864C>T	uc021qzn.1	-	1	184	c.52G>A	c.(52-54)Gat>Aat	p.D18N	DCTN2_uc001som.1_Missense_Mutation_p.D18N|DCTN2_uc009zpv.1_5'UTR|DCTN2_uc009zpw.1_5'UTR	NM_006400	NP_006391	Q13561	DCTN2_HUMAN	Homo sapiens dynactin 2 (p50) (DCTN2), mRNA.	18					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						TCATAAACATCTGGCTCATTC	0.517												
TMTC2	160335	broad.mit.edu	37	12	83251229	83251229	+	Nonsense_Mutation	SNP	C	C	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:83251229C>G	uc001szt.3	+	1	956	c.524C>G	c.(523-525)tCa>tGa	p.S175*	TMTC2_uc001szr.1_Nonsense_Mutation_p.S175*|TMTC2_uc001szs.1_Nonsense_Mutation_p.S175*|TMTC2_uc010suk.2_Intron	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	175						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TTCCTGGGGTCAGGACTGTGC	0.507												
TMTC2	160335	broad.mit.edu	37	12	83251308	83251308	+	Silent	SNP	C	C	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:83251308C>G	uc001szt.3	+	1	1035	c.603C>G	c.(601-603)gtC>gtG	p.V201V	TMTC2_uc001szr.1_Silent_p.V201V|TMTC2_uc001szs.1_Silent_p.V201V|TMTC2_uc010suk.2_Intron	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	201						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TTTATGATGTCTTTGTCTTTC	0.443												
TMTC2	160335	broad.mit.edu	37	12	83251314	83251314	+	Silent	SNP	C	C	G	rs138847027		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:83251314C>G	uc001szt.3	+	1	1041	c.609C>G	c.(607-609)gtC>gtG	p.V203V	TMTC2_uc001szr.1_Silent_p.V203V|TMTC2_uc001szs.1_Silent_p.V203V|TMTC2_uc010suk.2_Intron	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	203						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						ATGTCTTTGTCTTTCACAGGC	0.428												
HVCN1	84329	broad.mit.edu	37	12	111089040	111089040	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:111089040C>A	uc001trs.1	-	5	790	c.625G>T	c.(625-627)Gtg>Ttg	p.V209L	HVCN1_uc001trq.1_Missense_Mutation_p.V209L|HVCN1_uc001trt.1_Missense_Mutation_p.V209L|HVCN1_uc010syd.1_Missense_Mutation_p.V189L	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.	209					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						ATCCGGGCCACCCGCCACAGC	0.602												
TBX5	6910	broad.mit.edu	37	12	114832609	114832609	+	Silent	SNP	C	C	T	rs139329918	byFrequency	TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:114832609C>T	uc001tvo.3	-	5	1095	c.600G>A	c.(598-600)gcG>gcA	p.A200A	TBX5_uc001tvp.3_Silent_p.A200A|TBX5_uc001tvq.3_Silent_p.A150A|TBX5_uc010syv.2_Silent_p.A200A	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	200					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.A200A(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GAGTGCAGAACGCTGTATTTT	0.433												
GCN1L1	10985	broad.mit.edu	37	12	120596393	120596393	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:120596393G>A	uc001txo.3	-	24	2789	c.2776C>T	c.(2776-2778)Cgc>Tgc	p.R926C		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	926					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCAGCAGGCGCAGGGTCACG	0.582												
SYT16	83851	broad.mit.edu	37	14	62547880	62547880	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr14:62547880G>A	uc001xfu.1	+	3	1519	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	441	C2 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TACGCTGCCCGGAAGATGACC	0.567												
NRXN3	9369	broad.mit.edu	37	14	80130234	80130234	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr14:80130234C>T	uc001xun.3	+	13	2930	c.2439C>T	c.(2437-2439)aaC>aaT	p.N813N	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc001xup.2_Non-coding_Transcript|NRXN3_uc001xuq.2_Silent_p.N181N|NRXN3_uc010asw.3_Silent_p.N181N|NRXN3_uc001xur.4_Silent_p.N181N	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	181					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TCACCAGGAACGGCGGCAACG	0.488												
JAG2	3714	broad.mit.edu	37	14	105609172	105609172	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr14:105609172C>T	uc001yqg.3	-	25	3981	c.3577G>A	c.(3577-3579)Gcg>Acg	p.A1193T	JAG2_uc001yqf.3_Missense_Mutation_p.A597T|JAG2_uc001yqh.3_Missense_Mutation_p.A1155T	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	1193					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AACTTCTCCGCCTCCAGGGAG	0.706												
SLC28A2	9153	broad.mit.edu	37	15	45556870	45556870	+	Silent	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr15:45556870G>A	uc001zva.2	+	6	671	c.606G>A	c.(604-606)gtG>gtA	p.V202V		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	202					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	p.V202V(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		GGAGGACAGTGTTTTCGGGCC	0.433												
HERC1	8925	broad.mit.edu	37	15	63970125	63970125	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr15:63970125C>T	uc002amp.3	-	36	7137	c.6989G>A	c.(6988-6990)cGc>cAc	p.R2330H		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.	2330					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor 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						CGTGGCATGGCGCCCAGTTTG	0.527												
TLE3	7090	broad.mit.edu	37	15	70347545	70347545	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr15:70347545G>A	uc002asl.2	-	13	1731	c.1430C>T	c.(1429-1431)gCc>gTc	p.A477V	TLE3_uc002ask.2_Missense_Mutation_p.A404V|TLE3_uc010ukd.1_Missense_Mutation_p.A467V|TLE3_uc010bil.1_Missense_Mutation_p.A474V|TLE3_uc002asn.2_Missense_Mutation_p.A465V|TLE3_uc002asm.2_Missense_Mutation_p.A477V|TLE3_uc002asp.2_Missense_Mutation_p.A469V|TLE3_uc002aso.2_Missense_Mutation_p.A472V	NM_001105192	NP_001098662	Q04726	TLE3_HUMAN	Homo sapiens transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) (TLE3), transcript variant 2, mRNA.	477					organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	p.A477T(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GATCTGCCGGGCGTGCCTCGG	0.642												
WFIKKN1	117166	broad.mit.edu	37	16	683877	683877	+	Nonsense_Mutation	SNP	C	C	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr16:683877C>A	uc002cht.1	+	1	1709	c.1467C>A	c.(1465-1467)tgC>tgA	p.C489*	AK128777_uc002chs.1_3'UTR|AK301549_uc010uuk.2_5'Flank	NM_053284	NP_444514	Q96NZ8	WFKN1_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 (WFIKKN1), mRNA.	489	NTR.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				ACTGGGCCTGCCCCTGCCCCA	0.677												
NOD2	64127	broad.mit.edu	37	16	50763750	50763750	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr16:50763750C>T	uc002egm.1	+	10	3093	c.2988C>T	c.(2986-2988)acC>acT	p.T996T	NOD2_uc010vgq.1_Silent_p.T41T	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	996					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ACTGCATCACCTACCTAGGGG	0.502												
KLHL36	79786	broad.mit.edu	37	16	84691222	84691222	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr16:84691222C>A	uc002fig.3	+	2	950	c.809C>A	c.(808-810)gCc>gAc	p.A270D	KLHL36_uc010chl.3_Missense_Mutation_p.A269D	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	Homo sapiens kelch-like 36 (Drosophila) (KLHL36), mRNA.	270										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ATCGAGGAGGCCGTGCGCTAC	0.677												
ZC3H18	124245	broad.mit.edu	37	16	88643657	88643657	+	Silent	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr16:88643657G>A	uc010voz.2	+	1	326	c.126G>A	c.(124-126)ggG>ggA	p.G42G	ZC3H18_uc021tmm.1_Silent_p.G42G|ZC3H18_uc010voy.1_Silent_p.G42G|ZC3H18_uc002fky.3_Silent_p.G42G|ZC3H18_uc010vpa.1_Silent_p.G42G	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	42						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		ACGGGGCGGGGGTGAGGGCTT	0.612												
NLRP1	22861	broad.mit.edu	37	17	5461860	5461860	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:5461860A>G	uc002gci.3	-	3	2711	c.2156T>C	c.(2155-2157)cTc>cCc	p.L719P	NLRP1_uc002gcg.1_Missense_Mutation_p.L719P|NLRP1_uc002gch.4_Missense_Mutation_p.L719P|NLRP1_uc002gck.3_Missense_Mutation_p.L719P|NLRP1_uc002gcj.3_Missense_Mutation_p.L719P|NLRP1_uc002gcl.3_Missense_Mutation_p.L719P|NLRP1_uc010clh.3_Missense_Mutation_p.L719P	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	719					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CAAGCAGTGGAGGGACTCCAG	0.537												
DNAH2	146754	broad.mit.edu	37	17	7643075	7643075	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:7643075G>A	uc002giu.1	+	7	1209	c.1195G>A	c.(1195-1197)Gcc>Acc	p.A399T	DNAH2_uc002git.3_Missense_Mutation_p.A481T|DNAH2_uc010vuk.2_Missense_Mutation_p.A399T	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	399	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A399V(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GTATCACTTCGCCCGCTGGGA	0.488												
TP53I13	90313	broad.mit.edu	37	17	27899699	27899699	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:27899699C>T	uc002hee.3	+	5	1091	c.1053C>T	c.(1051-1053)agC>agT	p.S351S		NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN	Homo sapiens tumor protein p53 inducible protein 13 (TP53I13), mRNA.	351						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		CAGCGGACAGCCAGGACACAG	0.701												
RHBDL3	162494	broad.mit.edu	37	17	30611787	30611787	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:30611787C>T	uc010csx.1	+	2	259	c.245C>T	c.(244-246)gCc>gTc	p.A82V	RHBDL3_uc002hhe.1_Missense_Mutation_p.A82V|RHBDL3_uc010csw.1_Missense_Mutation_p.A74V|RHBDL3_uc010csy.1_Intron|RHBDL3_uc002hhf.1_Intron			P58872	RHBL3_HUMAN	Homo sapiens rhomboid, veinlet-like 3 (Drosophila) (RHBDL3), mRNA.	82	EF-hand 2.				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				CTGGCTCTTGCCGACAGCCAC	0.592												
ZNF207	7756	broad.mit.edu	37	17	30685561	30685561	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:30685561C>T	uc010csz.3	+	3	564	c.217C>T	c.(217-219)Cct>Tct	p.P73S	ZNF207_uc002hhj.4_Missense_Mutation_p.P70S|ZNF207_uc002hhh.4_Missense_Mutation_p.P70S|ZNF207_uc002hhi.4_Missense_Mutation_p.P70S|ZNF207_uc002hhk.1_Missense_Mutation_p.P70S|ZNF207_uc002hhl.1_5'Flank			O43670	ZN207_HUMAN	Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA.	70						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AAATGCAATACCTGGAAGAAC	0.333												
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:39261693A>T	uc010wfp.2	+	0	53	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	18						keratin filament		p.D18V(2)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627												
KRT9	3857	broad.mit.edu	37	17	39725742	39725742	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:39725742C>T	uc002hxe.4	-	3	1046	c.980G>A	c.(979-981)cGt>cAt	p.R327H	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	327	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	p.R327H(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ATACTCCTGACGCATGTCATT	0.502												
ACLY	47	broad.mit.edu	37	17	40065323	40065323	+	Splice_Site	SNP	T	T	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:40065323T>G	uc002hyg.3	-	6	700	c.537_splice	c.e6-1	p.E179_splice	ACLY_uc002hyh.3_Splice_Site_p.E179_splice|ACLY_uc002hyi.3_Splice_Site_p.E233_splice|ACLY_uc010wfx.2_Splice_Site_p.E233_splice|ACLY_uc010wfy.2_Intron	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	179					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GCCAGAATTCTAGAGGTGGGA	0.562												
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:45219612delA	uc002ile.4	-	10	1506	c.1379delT	c.(1378-1380)ctafs	p.L460fs	CDC27_uc002ild.4_Frame_Shift_Del_p.L454fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	454				Missing (in Ref. 1; AAA60471).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308												
SMCHD1	23347	broad.mit.edu	37	18	2752502	2752502	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr18:2752502G>A	uc002klm.4	+	33	4487	c.4298G>A	c.(4297-4299)tGt>tAt	p.C1433Y	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	1433					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ACATTTAGTTGTAATAAAATA	0.303												
LAMA1	284217	broad.mit.edu	37	18	7036079	7036079	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr18:7036079C>T	uc002knm.3	-	12	1840	c.1746G>A	c.(1744-1746)gcG>gcA	p.A582A	LAMA1_uc010wzj.2_Silent_p.A58A	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	582	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATCCGCCAAACGCAGTCAGCT	0.463												
PTBP1	5725	broad.mit.edu	37	19	804908	804908	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:804908C>T	uc002lpr.2	+	6	792	c.686C>T	c.(685-687)gCg>gTg	p.A229V	PTBP1_uc002lps.2_Intron|PTBP1_uc002lpp.2_Missense_Mutation_p.A229V|PTBP1_uc002lpq.2_Missense_Mutation_p.A229V|MIR4745_uc021uly.1_5'Flank	NM_031991	NP_114368	P26599	PTBP1_HUMAN	Homo sapiens polypyrimidine tract binding protein 1 (PTBP1), transcript variant 3, mRNA.	229	RRM 2.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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)		CTGCAGTATGCGGACCCCGTG	0.662												
SBNO2	22904	broad.mit.edu	37	19	1119057	1119057	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:1119057G>A	uc002lrk.4	-	13	1718	c.1480C>T	c.(1480-1482)Ccg>Tcg	p.P494S	SBNO2_uc002lrj.4_Missense_Mutation_p.P437S|SBNO2_uc010dse.3_Missense_Mutation_p.P487S|SBNO2_uc010dsf.3_Missense_Mutation_p.P437S	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.	494					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGCCAGCGGGATCTCCTCG	0.657												
TLE2	7089	broad.mit.edu	37	19	3013710	3013710	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:3013710G>A	uc010dth.3	-	10	1096	c.833C>T	c.(832-834)tCt>tTt	p.S278F	TLE2_uc010xhb.2_5'UTR|TLE2_uc002lww.3_Missense_Mutation_p.S277F|TLE2_uc010xhc.2_Missense_Mutation_p.S155F|TLE2_uc010dti.3_Missense_Mutation_p.S291F|TLE2_uc010xhd.1_Missense_Mutation_p.S185F	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	277	Pro/Ser-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		GCCAAGGCTAGAGGCCAAGGA	0.642												
MUC16	94025	broad.mit.edu	37	19	8997446	8997446	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:8997446T>G	uc002mkp.3	-	58	41180	c.40976A>C	c.(40975-40977)aAg>aCg	p.K13659T	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.K476T|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13661	SEA 11.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGTTGAACTTCCTGGAGCC	0.567												
ZNF527	84503	broad.mit.edu	37	19	37880558	37880558	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:37880558G>A	uc010efk.1	+	4	1718	c.1607G>A	c.(1606-1608)aGt>aAt	p.S536N	ZNF527_uc002ogf.3_Missense_Mutation_p.S504N|ZNF527_uc010xtq.1_Non-coding_Transcript	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	Homo sapiens zinc finger protein 527 (ZNF527), mRNA.	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGGCCTTCAGTTGTGGCTCA	0.398												
ZNF229	7772	broad.mit.edu	37	19	44933459	44933459	+	Silent	SNP	A	A	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:44933459A>G	uc002oze.1	-	5	1931	c.1497T>C	c.(1495-1497)agT>agC	p.S499S	ZNF229_uc010ejk.1_Silent_p.S153S|ZNF229_uc010ejl.1_Silent_p.S493S	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				ACGAGTTGTGACTGAAACCTT	0.517												
ZNF816	125893	broad.mit.edu	37	19	53454033	53454033	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:53454033C>T	uc002qal.2	-	4	1346	c.995G>A	c.(994-996)cGt>cAt	p.R332H	ZNF816_uc010eqj.3_Intron|ZNF816_uc002qak.2_Intron|ZNF816_uc021uzc.1_Missense_Mutation_p.R332H|ZNF816_uc002qam.2_Missense_Mutation_p.R332H	NM_001031665	NP_001189386	Q0VGE8	ZN816_HUMAN	Homo sapiens zinc finger protein 816 (ZNF816), transcript variant 1, mRNA.	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						ATGAAGTCTACGATGGCATCT	0.423												
TPO	7173	broad.mit.edu	37	2	1459947	1459947	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:1459947G>A	uc002qwr.3	+	6	798	c.712G>A	c.(712-714)Gac>Aac	p.D238N	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.D238N|TPO_uc002qwx.3_Missense_Mutation_p.D238N|TPO_uc002qwu.3_Missense_Mutation_p.D238N|TPO_uc010yio.2_Missense_Mutation_p.D238N|TPO_uc010yip.2_Missense_Mutation_p.D238N	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	238					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACAATACATCGACCACGACAT	0.522												
NT5C1B-RDH14	93034	broad.mit.edu	37	2	18765887	18765887	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:18765887C>T	uc010exr.3	-	3	734	c.622G>A	c.(622-624)Gag>Aag	p.E208K	NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.E266K|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.E206K|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.E266K|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.E249K|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.E283K|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.E268K|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.E206K|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Missense_Mutation_p.E58K	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	266					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										TGCTGCTGCTCGGACAGAGAG	0.652												
APOB	338	broad.mit.edu	37	2	21231021	21231021	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:21231021G>A	uc002red.3	-	25	8847	c.8719C>T	c.(8719-8721)Cgc>Tgc	p.R2907C		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2907					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATCTCGTTGCGCAGGTCAGCC	0.468												
ALK	238	broad.mit.edu	37	2	29443572	29443572	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:29443572C>T	uc002rmy.3	-	23	4597	c.3645_splice	c.e23+1	p.P1215_splice	ALK_uc010ymo.2_Splice_Site_p.P147_splice	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	1215	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TCTCACTCACCGGGCGAGGGC	0.612			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome			
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:107049631C>T	uc010ywi.1	-	15	2373	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	772					intracellular transport		binding	p.A772A(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373												
POTEF	728378	broad.mit.edu	37	2	130877830	130877830	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:130877830C>T	uc010fmh.2	-	2	659	c.259G>A	c.(259-261)Gac>Aac	p.D87N		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	87						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GCAGAGTCGTCGTGGTCTCCA	0.602												
POTEE	445582	broad.mit.edu	37	2	131976234	131976234	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:131976234G>A	uc002tsn.2	+	0	311	c.259G>A	c.(259-261)Gac>Aac	p.D87N	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	87							ATP binding										TGGAGACCACGACGACTCTGC	0.602												
SCN1A	6323	broad.mit.edu	37	2	166850722	166850722	+	Missense_Mutation	SNP	G	G	A	rs121917993		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:166850722G>A	uc002udo.4	-	26	5013	c.4786C>T	c.(4786-4788)Cgc>Tgc	p.R1596C	SCN1A_uc010fpk.3_Missense_Mutation_p.R1568C|SCN1A_uc021vsb.1_Missense_Mutation_p.R1585C	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1596			R -> C (in a patient with cryptogenic focal epilepsy; dbSNP:rs121917993).			voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1585C(1)|p.R1596C(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TAATAATGGCGTAGAGAGATG	0.338												
TTN	7273	broad.mit.edu	37	2	179587016	179587016	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:179587016C>T	uc021vsy.1	-	73	18991	c.18766G>A	c.(18766-18768)Gca>Aca	p.A6256T	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A2917T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7183							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTAGAAGATGCTGTTCCAAGT	0.408												
UBE2E3	10477	broad.mit.edu	37	2	181846854	181846854	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:181846854G>A	uc002unq.1	+	2	304	c.85G>A	c.(85-87)Gct>Act	p.A29T	UBE2E3_uc002unr.1_Missense_Mutation_p.A29T|UBE2E3_uc010fri.1_Missense_Mutation_p.A29T	NM_182678	NP_872619	Q969T4	UB2E3_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2E 3 (UBE2E3), transcript variant 2, mRNA.	29					protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						AGACCCAGCCGCTCCAGAGCC	0.507												
HIBCH	26275	broad.mit.edu	37	2	191110923	191110923	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:191110923C>T	uc002uru.3	-	9	1061	c.766G>A	c.(766-768)Gac>Aac	p.D256N	HIBCH_uc002urv.3_Missense_Mutation_p.D256N	NM_014362	NP_055177	Q6NVY1	HIBCH_HUMAN	Homo sapiens 3-hydroxyisobutyryl-CoA hydrolase (HIBCH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	256					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			AAAGACTTGTCTCGATCAATC	0.254												
PRIC285	85441	broad.mit.edu	37	20	62198405	62198405	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr20:62198405C>T	uc002yfm.2	-	6	3198	c.2306G>A	c.(2305-2307)gGc>gAc	p.G769D	PRIC285_uc002yfl.1_Missense_Mutation_p.G200D	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	769					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CGGAACCTTGCCCCTGGCGTG	0.652												
KRTAP20-2	337976	broad.mit.edu	37	21	32007617	32007617	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr21:32007617G>A	uc011adg.2	+	0	35	c.35G>A	c.(34-36)cGt>cAt	p.R12H		NM_181616	NP_853647	Q3LI61	KR202_HUMAN	Homo sapiens keratin associated protein 20-2 (KRTAP20-2), mRNA.	12						intermediate filament				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						GGTGGTCTGCGTTATGGCTAT	0.522												
ICOSLG	23308	broad.mit.edu	37	21	45657002	45657002	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr21:45657002C>T	uc010gpp.1	-	2	288	c.154G>A	c.(154-156)Gta>Ata	p.V52I	ICOSLG_uc002zef.3_Intron|ICOSLG_uc002zee.3_Missense_Mutation_p.V52I|ICOSLG_uc011afc.2_Intron	NM_015259	NP_056074	O75144	ICOSL_HUMAN	Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA.	52	Ig-like V-type.				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TGCCAATATACGTAAACATCA	0.522												
TSPEAR	54084	broad.mit.edu	37	21	45945664	45945664	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr21:45945664A>G	uc002zfe.1	-	7	1274	c.1208T>C	c.(1207-1209)aTt>aCt	p.I403T	TSPEAR_uc010gpv.1_Missense_Mutation_p.I335T	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	403					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCATTTGTAAATGACAGAGAA	0.522												
PCBP3	54039	broad.mit.edu	37	21	47355174	47355174	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr21:47355174C>T	uc010gqb.3	+	13	1127	c.864C>T	c.(862-864)gaC>gaT	p.D288D	PCBP3_uc002zhp.2_Silent_p.D268D|PCBP3_uc002zhq.2_Silent_p.D288D|PCBP3_uc002zhs.2_Silent_p.D262D|PCBP3_uc002zht.2_Silent_p.D278D	NM_020528	NP_065389	P57721	PCBP3_HUMAN	Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.	288					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)		CAGGTCTGGACGCCAGCCCAC	0.577												
RFPL2	10739	broad.mit.edu	37	22	32586778	32586778	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr22:32586778C>T	uc003amg.3	-	4	2054	c.1118G>A	c.(1117-1119)cGt>cAt	p.R373H	RFPL2_uc003ame.3_Missense_Mutation_p.R312H|RFPL2_uc003amf.3_Missense_Mutation_p.R283H|RFPL2_uc003amh.3_Missense_Mutation_p.R283H	NM_001098527	NP_001153018	O75678	RFPL2_HUMAN	Homo sapiens ret finger protein-like 2 (RFPL2), transcript variant 2, mRNA.	373							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CTCCCCAGGACGGACTGGAGC	0.463												
RFPL3	10738	broad.mit.edu	37	22	32756800	32756800	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr22:32756800G>A	uc003amj.3	+	1	1140	c.935G>A	c.(934-936)cGt>cAt	p.R312H	RFPL3_uc010gwn.3_Missense_Mutation_p.R283H|RFPL3-AS1_uc003amk.3_Non-coding_Transcript|RFPL3-AS1_uc003aml.3_Non-coding_Transcript	NM_001098535	NP_006595	O75679	RFPL3_HUMAN	Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA.	312							zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GCTCCAGTCCGTCCTGGGGAG	0.458												
TCF20	6942	broad.mit.edu	37	22	42610776	42610778	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr22:42610776_42610778delTGC	uc003bcj.1	-	0	668_670	c.534_536delGCA	c.(532-537)cagcaa>caa	p.178_179QQ>Q	TCF20_uc003bck.1_In_Frame_Del_p.178_179QQ>Q	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	178	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGCTGGACTTGCTGCTGCTGCT	0.571												
NBEAL2	23218	broad.mit.edu	37	3	47041457	47041457	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:47041457C>T	uc003cqp.3	+	26	4047	c.3868C>T	c.(3868-3870)Cgg>Tgg	p.R1290W	NBEAL2_uc010hjm.2_Intron|NBEAL2_uc010hjn.2_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1290							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGTGCTGACCCGGCTATATGT	0.637												
AMT	275	broad.mit.edu	37	3	49459869	49459870	+	Frame_Shift_Ins	INS	-	-	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:49459869_49459870insA	uc003cww.3	-	0	242_243	c.14_15insT	c.(13-15)gtafs	p.V5fs	AMT_uc011bcn.2_5'UTR|AMT_uc003cwx.3_Frame_Shift_Ins_p.V5fs|AMT_uc011bco.2_Frame_Shift_Ins_p.V5fs|AMT_uc003cwy.3_5'UTR|AMT_uc011bcq.2_Frame_Shift_Ins_p.V5fs|AMT_uc011bcp.2_5'UTR|NICN1_uc003cwz.1_3'UTR	NM_000481	NP_000472	P48728	GCST_HUMAN	Homo sapiens aminomethyltransferase (AMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	5					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CCACCACACTTACAGCCCTCTG	0.639												
CACNA2D2	9254	broad.mit.edu	37	3	50414925	50414925	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:50414925G>T	uc003daq.3	-	16	1637	c.1599C>A	c.(1597-1599)gaC>gaA	p.D533E	CACNA2D2_uc003dap.3_Missense_Mutation_p.D533E	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	533	Cache.				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GCCTCTTGATGTCATTCAGAG	0.597												
NR1I2	8856	broad.mit.edu	37	3	119536025	119536025	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:119536025T>C	uc003edj.3	+	8	3110	c.1271T>C	c.(1270-1272)cTc>cCc	p.L424P	NR1I2_uc003edi.3_Missense_Mutation_p.L387P|NR1I2_uc003edk.3_Missense_Mutation_p.L463P|NR1I2_uc003edl.3_Missense_Mutation_p.L312P	NM_003889	NP_003880	O75469	NR1I2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 2 (NR1I2), transcript variant 1, mRNA.	424	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	GCTACGCCCCTCATGCAGGAG	0.622												
CSTA	1475	broad.mit.edu	37	3	122060340	122060340	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:122060340G>A	uc003eex.3	+	2	352	c.223G>A	c.(223-225)Gga>Aga	p.G75R		NM_005213	NP_005204	P01040	CYTA_HUMAN	Homo sapiens cystatin A (stefin A) (CSTA), mRNA.	75					keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity|protease binding|protein binding, bridging|structural molecule activity	p.P74P(1)		large_intestine(2)|lung(2)	4				GBM - Glioblastoma multiforme(114;0.155)		AAGTCTTCCCGGACAAAATGA	0.378												
CLSTN2	64084	broad.mit.edu	37	3	140178466	140178466	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:140178466C>T	uc003etn.3	+	6	1267	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D	CLSTN2_uc003etm.2_Silent_p.D359D	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	359					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCAAGTTTGACGGCAGGCAGG	0.577										HNSCC(16;0.037)		
ETV5	2119	broad.mit.edu	37	3	185766628	185766628	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:185766628A>G	uc003fpy.3	-	12	1524	c.1459T>C	c.(1459-1461)Tac>Cac	p.Y487H	ETV5_uc003fpz.3_Missense_Mutation_p.Y445H	NM_004454	NP_004445	P41161	ETV5_HUMAN	Homo sapiens ets variant 5 (ETV5), mRNA.	445					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ACAAATTTGTAGACGTATCGC	0.562			T	"""TMPRSS2, SCL45A3"""	Prostate							
SST	6750	broad.mit.edu	37	3	187387016	187387016	+	Missense_Mutation	SNP	G	G	A	rs149673471		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:187387016G>A	uc003frn.3	-	1	310	c.188C>T	c.(187-189)aCg>aTg	p.T63M		NM_001048	NP_001039	P61278	SMS_HUMAN	Homo sapiens somatostatin (SST), mRNA.	63					digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity	p.T63T(2)		kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	ATCATTCTCCGTCTGGTTGGG	0.517												
ZNF718	255403	broad.mit.edu	37	4	155819	155819	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr4:155819T>G	uc003fzt.4	+	3	1500	c.1344T>G	c.(1342-1344)gaT>gaG	p.D448E	ZNF718_uc003fzu.1_Intron|ZNF718_uc010iaz.3_Non-coding_Transcript|ZNF718_uc003fzw.4_3'UTR	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 718 (ZNF718), mRNA.	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		ACACTGTAGATAAACCCTACA	0.353												
FGFRL1	53834	broad.mit.edu	37	4	1018886	1018886	+	Silent	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr4:1018886G>A	uc003gce.3	+	6	1427	c.1266G>A	c.(1264-1266)acG>acA	p.T422T	FGFRL1_uc003gcf.3_Silent_p.T422T|FGFRL1_uc003gcg.3_Silent_p.T422T|FGFRL1_uc010ibo.3_Silent_p.T422T	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	422					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	p.G421E(1)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCCGGGGACGGCCCGCGACC	0.731												
TLR6	10333	broad.mit.edu	37	4	38829218	38829218	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr4:38829218C>T	uc010ifg.2	-	1	1998	c.1877G>A	c.(1876-1878)cGc>cAc	p.R626H	TLR6_uc003gtm.3_Missense_Mutation_p.R626H	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	626					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGGCCCTGCGCCGAGTCTG	0.502												
PITX2	5308	broad.mit.edu	37	4	111553638	111553638	+	Splice_Site	SNP	T	T	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr4:111553638T>A	uc003iaf.3	-	5	1870	c.47_splice	c.e5-1	p.G16_splice	PITX2_uc003iad.3_Splice_Site_p.G16_splice|PITX2_uc021xqr.1_Splice_Site_p.G16_splice|PITX2_uc003iae.3_Intron|PITX2_uc021xqs.1_Intron	NM_001204397	NP_001191326	Q99697	PITX2_HUMAN	Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA.	16					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GCTGCACGCCTGGGCCACGCG	0.687												
ANK2	287	broad.mit.edu	37	4	114251595	114251595	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr4:114251595G>A	uc003ibe.4	+	26	3194	c.3094G>A	c.(3094-3096)Gaa>Aaa	p.E1032K	ANK2_uc003ibd.4_Missense_Mutation_p.E1023K|ANK2_uc003ibf.4_Missense_Mutation_p.E1032K|ANK2_uc011cgc.2_Missense_Mutation_p.E241K|ANK2_uc003ibg.4_Missense_Mutation_p.E60K|ANK2_uc003ibc.2_Missense_Mutation_p.E1008K|ANK2_uc011cgb.1_Missense_Mutation_p.E1047K	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1021	Interaction with SPTBN1.|ZU5.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCGCCTGATCGAAGTTGGACC	0.532												
GPM6A	2823	broad.mit.edu	37	4	176594942	176594942	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr4:176594942G>C	uc003iuf.3	-	2	1080	c.276C>G	c.(274-276)ttC>ttG	p.F92L	GPM6A_uc011ckj.2_Missense_Mutation_p.F85L|GPM6A_uc003iug.3_Missense_Mutation_p.F92L|GPM6A_uc003iuh.3_Missense_Mutation_p.F81L	NM_201591	NP_963885	P51674	GPM6A_HUMAN	Homo sapiens glycoprotein M6A (GPM6A), transcript variant 2, mRNA.	92						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CATACACAAAGAACGCAGCTG	0.418												
DNAH5	1767	broad.mit.edu	37	5	13809274	13809274	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr5:13809274G>A	uc003jfd.2	-	45	7673	c.7631C>T	c.(7630-7632)aCg>aTg	p.T2544M		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2544					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T2544M(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGGGTACGCGTGTTCCAGTG	0.438									Kartagener syndrome			
GRAMD3	65983	broad.mit.edu	37	5	125822670	125822670	+	Splice_Site	SNP	G	G	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr5:125822670G>T	uc011cwt.2	+	12	1444	c.1208_splice	c.e12+1	p.E403_splice	GRAMD3_uc003ktu.3_Splice_Site_p.E388_splice|GRAMD3_uc011cwv.2_Splice_Site_p.E396_splice|GRAMD3_uc011cww.2_Splice_Site_p.E284_splice|GRAMD3_uc011cwx.2_Splice_Site|GRAMD3_uc011cwy.2_Splice_Site_p.E279_splice|GRAMD3_uc011cwz.2_Splice_Site_p.E372_splice	NM_001146319	NP_001139791	Q96HH9	GRAM3_HUMAN	Homo sapiens GRAM domain containing 3 (GRAMD3), transcript variant 1, mRNA.	388										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		ATAATACTGAGTAAGACGATT	0.403												
ADAM19	8728	broad.mit.edu	37	5	156916128	156916128	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr5:156916128C>T	uc003lwz.3	-	19	2386	c.2307G>A	c.(2305-2307)acG>acA	p.T769T	ADAM19_uc003lww.2_Silent_p.T502T|ADAM19_uc003lwy.3_Silent_p.T368T|ADAM19_uc011ddr.1_Silent_p.T700T	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	769					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCCCTGGGGCGTCTGCAGCT	0.483												
IRF4	3662	broad.mit.edu	37	6	398917	398917	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:398917G>A	uc003msz.4	+	5	853	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	IRF4_uc010jne.2_Missense_Mutation_p.E243K|IRF4_uc003mtb.4_Missense_Mutation_p.E242K|IRF4_uc021ykl.1_Missense_Mutation_p.E89K|IRF4_uc003mta.4_Non-coding_Transcript|IRF4_uc003mtc.1_Missense_Mutation_p.E73K	NM_002460	NP_002451	Q15306	IRF4_HUMAN	Homo sapiens interferon regulatory factor 4 (IRF4), transcript variant 1, mRNA.	243					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.E243K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		AAGGTCTGCCGAAGCCTTGGC	0.592			T	IGH@	MM							
F13A1	2162	broad.mit.edu	37	6	6225003	6225003	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:6225003C>T	uc003mwv.3	-	6	1012	c.889G>A	c.(889-891)Gtt>Att	p.V297I	F13A1_uc011dib.2_Missense_Mutation_p.V234I	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	297					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AGAATGTCAACGCTTCCAGTC	0.488												
JARID2	3720	broad.mit.edu	37	6	15504806	15504806	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:15504806G>T	uc003nbj.3	+	8	2768	c.2524G>T	c.(2524-2526)Gcc>Tcc	p.A842S	JARID2_uc011div.2_Missense_Mutation_p.A670S|JARID2_uc011diw.1_Missense_Mutation_p.A804S	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	842					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CAAGGAGCCTGCCCCAGCCGA	0.522												
KIF13A	63971	broad.mit.edu	37	6	17800257	17800257	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:17800257T>G	uc003ncg.4	-	20	2702	c.2542A>C	c.(2542-2544)Agt>Cgt	p.S848R	KIF13A_uc003ncf.3_Missense_Mutation_p.S848R|KIF13A_uc003nch.4_Missense_Mutation_p.S848R|KIF13A_uc003nci.4_Missense_Mutation_p.S848R	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	848					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CCACTTTCACTGGAATTCTCC	0.542												
ABCC10	89845	broad.mit.edu	37	6	43415637	43415637	+	Silent	SNP	C	C	T	rs144509707		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:43415637C>T	uc003ouy.1	+	17	4136	c.3921C>T	c.(3919-3921)gaC>gaT	p.D1307D	ABCC10_uc003ouz.1_Silent_p.D1279D|ABCC10_uc010jyo.1_Silent_p.D413D	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	1307	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGCTGCTGGACGGCGTGGACA	0.632												
ENPP4	22875	broad.mit.edu	37	6	46111073	46111073	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:46111073G>C	uc003oxy.3	+	3	1317	c.1058G>C	c.(1057-1059)gGa>gCa	p.G353A		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	353						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GCTGCCCACGGACCTGCATTT	0.388												
SYNJ2	8871	broad.mit.edu	37	6	158438287	158438287	+	Missense_Mutation	SNP	C	C	T	rs143362296	byFrequency	TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:158438287C>T	uc003qqx.2	+	1	285	c.179C>T	c.(178-180)gCg>gTg	p.A60V	SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Missense_Mutation_p.A60V|SYNJ2_uc003qqy.2_5'UTR|SYNJ2_uc011efn.1_5'Flank|SYNJ2_uc010kjo.1_5'Flank	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	60							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTCACGGACGCGTACGGCTGC	0.602												
FNDC1	84624	broad.mit.edu	37	6	159653361	159653361	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:159653361C>T	uc010kjv.3	+	10	2017	c.1817C>T	c.(1816-1818)aCg>aTg	p.T606M	FNDC1_uc010kjw.1_Missense_Mutation_p.T491M	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	606						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TCCCTGGCCACGCAGCCCCGC	0.706												
RPS6KA2	6196	broad.mit.edu	37	6	166844032	166844032	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:166844032C>T	uc003qvd.1	-	17	1678	c.1565G>A	c.(1564-1566)cGc>cAc	p.R522H	RPS6KA2_uc011ego.1_Missense_Mutation_p.R408H|RPS6KA2_uc010kkl.1_Missense_Mutation_p.R408H|RPS6KA2_uc003qvb.1_Missense_Mutation_p.R497H|RPS6KA2_uc003qvc.1_Missense_Mutation_p.R505H	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA.	497	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CCGGAGGATGCGGTCCAGGAG	0.592												
TTLL2	83887	broad.mit.edu	37	6	167754158	167754158	+	Missense_Mutation	SNP	G	G	A	rs34053826		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:167754158G>A	uc003qvs.1	+	2	858	c.770G>A	c.(769-771)cGc>cAc	p.R257H		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	257	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGTGATCTCCGCATCTATGTT	0.358												
GPR141	353345	broad.mit.edu	37	7	37780661	37780661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:37780661G>A	uc003tfm.1	+	0	666	c.666G>A	c.(664-666)tgG>tgA	p.W222*	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	222						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGAGTTCTGGGCTCAGCTGA	0.433												
C7orf57	136288	broad.mit.edu	37	7	48092478	48092478	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:48092478C>A	uc003toh.4	+	6	999	c.787C>A	c.(787-789)Ctc>Atc	p.L263I	C7orf57_uc003toi.4_Missense_Mutation_p.L121I	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN	Homo sapiens chromosome 7 open reading frame 57 (C7orf57), mRNA.	263										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TGCAGCCAGGCTCCAGGATGC	0.572												
POM121	9883	broad.mit.edu	37	7	72413425	72413425	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:72413425G>A	uc003twk.2	+	10	2893	c.2893G>A	c.(2893-2895)Gga>Aga	p.G965R	POM121_uc003twj.3_Missense_Mutation_p.G700R|POM121_uc010lam.1_Missense_Mutation_p.G700R	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	965	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ATCATATCCGGGAGCCAACCC	0.647												
GNAT3	346562	broad.mit.edu	37	7	80088106	80088106	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:80088106C>T	uc011kgu.2	-	7	946	c.946G>A	c.(946-948)Gat>Aat	p.D316N	CD36_uc003uhc.3_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.	316					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						ATTTCCTTATCTTCTTTTTTT	0.323												
DLX6	1750	broad.mit.edu	37	7	96637111	96637111	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:96637111C>G	uc022ahu.1	+	1	598	c.598C>G	c.(598-600)Ctg>Gtg	p.L200V	DLX6-AS1_uc003uol.3_Intron|DLX6-AS1_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	Homo sapiens distal-less homeobox 6 (DLX6), mRNA.	82					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GAGAGCCGAACTGGCAGCTTC	0.532												
SLC26A3	1811	broad.mit.edu	37	7	107434196	107434196	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:107434196C>T	uc003ver.2	-	2	473	c.262G>A	c.(262-264)Gta>Ata	p.V88I	SLC26A3_uc003ves.2_Missense_Mutation_p.V53I	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	88					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ccttGTAGTACGGCCACAATC	0.383												
ATP6V0A4	50617	broad.mit.edu	37	7	138432176	138432176	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:138432176G>T	uc003vuf.3	-	11	1552	c.1314C>A	c.(1312-1314)gaC>gaA	p.D438E	ATP6V0A4_uc003vug.3_Missense_Mutation_p.D438E|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.D438E	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	438					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCACCTCATTGTCTGTCTTCT	0.428												
OR2A12	346525	broad.mit.edu	37	7	143792752	143792752	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:143792752C>T	uc011kty.2	+	0	552	c.552C>T	c.(550-552)ttC>ttT	p.F184F		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TGTCCGTATTCAAATTGGCCT	0.493												
OR2A7	401427	broad.mit.edu	37	7	143956670	143956670	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:143956670C>T	uc011kuc.2	-	0	52	c.52G>A	c.(52-54)Gtt>Att	p.V18I	OR2A9P_uc003wec.1_Intron|OR2A7_uc003wef.3_Non-coding_Transcript	NM_001005328	NP_001005328	Q96R45	OR2A7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 7 (OR2A7), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P17S(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					CTTGGGCCAACGGGAAATCCC	0.498												
CYP7A1	1581	broad.mit.edu	37	8	59409723	59409723	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr8:59409723C>T	uc003xtm.4	-	2	411	c.348G>A	c.(346-348)ccG>ccA	p.P116P		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	116					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TTCCATCCATCGGGTCAATGC	0.418									Neonatal Giant Cell Hepatitis			
TRPA1	8989	broad.mit.edu	37	8	72948586	72948586	+	Missense_Mutation	SNP	T	T	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr8:72948586T>A	uc003xza.3	-	20	2667	c.2492A>T	c.(2491-2493)cAg>cTg	p.Q831L	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	831						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ACATTGCCACTGCAGATGAGC	0.353												
TMEM70	54968	broad.mit.edu	37	8	74888704	74888704	+	Frame_Shift_Del	DEL	T	T	-			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr8:74888704delT	uc003yab.3	+	0	328	c.188delT	c.(187-189)ctcfs	p.L63fs	TMEM70_uc022awa.1_Non-coding_Transcript|TMEM70_uc003yac.3_Frame_Shift_Del_p.L63fs	NM_017866	NP_060336	Q9BUB7	TMM70_HUMAN	Homo sapiens transmembrane protein 70 (TMEM70), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	63					mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			GCGCGCCTTCTCCGGCGTCCG	0.766												
ZNF623	9831	broad.mit.edu	37	8	144733275	144733275	+	Silent	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr8:144733275G>A	uc003yzd.2	+	0	1322	c.1233G>A	c.(1231-1233)gcG>gcA	p.A411A	ZNF623_uc011lkp.1_Silent_p.A371A|ZNF623_uc003yzc.2_Silent_p.A371A	NM_014789	NP_055604	O75123	ZN623_HUMAN	Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA.	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GTGGGAAAGCGTTTCTCCAGA	0.478												
KIAA0020	9933	broad.mit.edu	37	9	2829880	2829880	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr9:2829880G>A	uc003zhp.1	-	7	842	c.746C>T	c.(745-747)gCg>gTg	p.A249V	KIAA0020_uc003zhq.1_Missense_Mutation_p.A248V	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	249	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TGATGCTTCCGCATGCCGCAG	0.443												
OR1L4	254973	broad.mit.edu	37	9	125486747	125486747	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr9:125486747G>A	uc004bmu.1	+	0	479	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TCCCTGTTCCGCGTGCTACTT	0.478												
WNK3	65267	broad.mit.edu	37	X	54275317	54275317	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chrX:54275317C>A	uc004dtc.2	-	16	3903	c.3464G>T	c.(3463-3465)tGt>tTt	p.C1155F	WNK3_uc004dtd.2_Missense_Mutation_p.C1155F	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	1155					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TGTCACTGGACAGGAGAGGGT	0.458												
SPIN3	169981	broad.mit.edu	37	X	57021377	57021377	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chrX:57021377T>G	uc022bxv.1	-	0	4	c.4A>C	c.(4-6)Aag>Cag	p.K2Q	SPIN3_uc004duu.4_Non-coding_Transcript|SPIN3_uc004duw.4_Non-coding_Transcript|SPIN3_uc004duv.4_Non-coding_Transcript|SPIN3_uc010nkj.2_Missense_Mutation_p.K2Q|SPIN3_uc004dux.1_Missense_Mutation_p.K2Q	NM_001010862	NP_001010862	Q5JUX0	SPIN3_HUMAN	Homo sapiens spindlin family, member 3 (SPIN3), transcript variant 1, mRNA.	2					gamete generation					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						AACGGGGTCTTCATGCCTGCG	0.537												
TAF1	6872	broad.mit.edu	37	X	70680548	70680548	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chrX:70680548T>G	uc004dzu.4	+	36	5342	c.5291T>G	c.(5290-5292)aTg>aGg	p.M1764R	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.M1785R|TAF1_uc004dzv.4_Missense_Mutation_p.M972R|TAF1_uc010nle.1_Non-coding_Transcript|TAF1_uc010nlf.1_Missense_Mutation_p.M189R|TAF1_uc004dzx.2_Non-coding_Transcript|TAF1_uc004dzy.2_Non-coding_Transcript|TAF1_uc004dzw.1_Non-coding_Transcript|TAF1_uc010nlg.1_Non-coding_Transcript	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	1764	Asp/Glu-rich (acidic tail).|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CAACCCCGCATGCTTCAGGAG	0.483