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	ACHILLES_Top_Genes	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CLSPN	63967	broad.mit.edu	37	1	36212562	36212562	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr1:36212562A>G	uc001bzi.2	-	15	2739	c.2659T>C	c.(2659-2661)TAC>CAC	p.Y887H	CLSPN_uc009vux.2_Missense_Mutation_p.Y823H	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	claspin	887					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAAGCTTGGTACTGATTCCTG	0.378			NA											39	90					0	0	0.010771	0	0
ASTN1	460	broad.mit.edu	37	1	176998839	176998839	+	Missense_Mutation	SNP	T	T	C	rs140453977		TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr1:176998839T>C	uc001glc.2	-	5	1263	c.1051A>G	c.(1051-1053)ACA>GCA	p.T351A	ASTN1_uc001glb.1_Missense_Mutation_p.T351A|ASTN1_uc001gld.1_Missense_Mutation_p.T351A|ASTN1_uc009wwx.1_Missense_Mutation_p.T351A|ASTN1_uc001gle.3_RNA|MIR488_hsa-mir-488|MI0003123_5'Flank	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	351					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						TCTGCCTCTGTGCCAGAATCC	0.502			NA											13	18					0	0	0.016723	0	0
LAD1	3898	broad.mit.edu	37	1	201355988	201355988	+	Silent	SNP	T	T	C	rs138697867		TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr1:201355988T>C	uc001gwm.2	-	3	736	c.501A>G	c.(499-501)GAA>GAG	p.E167E	LAD1_uc009wzu.1_Silent_p.E189E	NM_005558	NP_005549	O00515	LAD1_HUMAN	ladinin 1	167						basement membrane	structural molecule activity				0						TCTTCCTCTCTTCTGGCTCCC	0.582			NA											3	116					0	0	0.004672	0	0
DISC1	27185	broad.mit.edu	37	1	231885726	231885726	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr1:231885726A>G	uc001huz.2	+	4	1225	c.1172A>G	c.(1171-1173)CAC>CGC	p.H391R	TSNAX-DISC1_uc010pwf.1_3'UTR|TSNAX-DISC1_uc010pwg.1_Missense_Mutation_p.H380R|TSNAX-DISC1_uc010pwh.1_Missense_Mutation_p.H346R|TSNAX-DISC1_uc010pwi.1_Missense_Mutation_p.H346R|TSNAX-DISC1_uc010pwj.1_Missense_Mutation_p.H380R|TSNAX-DISC1_uc010pwk.1_Missense_Mutation_p.H380R|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwo.1_3'UTR|DISC1_uc010pwp.1_Missense_Mutation_p.H391R|DISC1_uc010pwq.1_Missense_Mutation_p.H391R|DISC1_uc010pwr.1_Missense_Mutation_p.H391R|DISC1_uc010pws.1_Missense_Mutation_p.H391R|DISC1_uc010pwt.1_Missense_Mutation_p.H391R|DISC1_uc010pwu.1_Missense_Mutation_p.H41R|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Missense_Mutation_p.H391R|DISC1_uc010pwx.1_Intron|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Missense_Mutation_p.H391R|DISC1_uc010pxb.1_Missense_Mutation_p.H391R|DISC1_uc010pxc.1_Missense_Mutation_p.H391R|DISC1_uc010pxd.1_Missense_Mutation_p.H36R|DISC1_uc010pxe.1_Missense_Mutation_p.H391R|DISC1_uc009xfr.2_Missense_Mutation_p.H346R|DISC1_uc010pxf.1_Missense_Mutation_p.H391R|DISC1_uc010pxg.1_Missense_Mutation_p.H391R|DISC1_uc010pxh.1_Missense_Mutation_p.H423R|DISC1_uc010pxi.1_Intron|DISC1_uc010pxj.1_Missense_Mutation_p.H36R|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.H391R|DISC1_uc010pxn.1_Missense_Mutation_p.H36R|DISC1_uc001hva.2_Missense_Mutation_p.H391R	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	391	Interaction with TRAF3IP1.|Potential.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			skin(1)	1		all_cancers(173;0.0208)|Prostate(94;0.0975)				ATCAGCCTGCACTTTCAACTT	0.493			NA											32	61					0	0	0.013726	0	0
RYR2	6262	broad.mit.edu	37	1	237754106	237754106	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr1:237754106C>A	uc001hyl.1	+	31	4094	c.3974C>A	c.(3973-3975)GCT>GAT	p.A1325D		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1325	Cytoplasmic (By similarity).|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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			CTCCCTGGGGCTGGCCTTTTT	0.522			NA											40	77					1.57019e-19	1.90235e-19	0.007835	1	0
RYR2	6262	broad.mit.edu	37	1	237829818	237829818	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr1:237829818G>T	uc001hyl.1	+	57	8563	c.8443G>T	c.(8443-8445)GTG>TTG	p.V2815L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2815	Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.|4.				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	p.A2815T(1)		ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			CTAGGTTTCTGTGGACGCTGC	0.373			NA											11	15					0.00829132	0.00900609	0.008291	1	0
USP6NL	9712	broad.mit.edu	37	10	11504482	11504482	+	Silent	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr10:11504482C>T	uc001ikt.3	-	15	2766	c.2445G>A	c.(2443-2445)AGG>AGA	p.R815R	USP6NL_uc001iks.1_Silent_p.R832R	NM_014688	NP_055503	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 1	815						intracellular	Rab GTPase activator activity				0						CGTCCCGATTCCTGTAGTGGT	0.502			NA											22	38					0	0	0.014323	0	0
WAC	51322	broad.mit.edu	37	10	28900789	28900789	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr10:28900789C>T	uc001iuf.2	+	10	1460	c.1375C>T	c.(1375-1377)CAA>TAA	p.Q459*	WAC_uc001iud.2_Nonsense_Mutation_p.Q414*|WAC_uc001iue.2_Nonsense_Mutation_p.Q149*|WAC_uc001iug.2_Nonsense_Mutation_p.Q356*|WAC_uc001iuh.2_Nonsense_Mutation_p.Q411*	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	459					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2						AAGCACACCTCAAACTAACAC	0.433			NA											61	85					0	0	0.01441	0	0
UNC5B	219699	broad.mit.edu	37	10	73047492	73047492	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr10:73047492C>T	uc001jro.2	+	6	1316	c.871C>T	c.(871-873)CAG>TAG	p.Q291*	UNC5B_uc001jrp.2_Nonsense_Mutation_p.Q291*	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	291	TSP type-1 1.|Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						CCAGGCATTCCAGAAGACCGC	0.652			NA											19	25					0	0	0.010504	0	0
B3GNT1	11041	broad.mit.edu	37	11	66114503	66114503	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr11:66114503C>T	uc001ohr.2	-	1	659	c.514G>A	c.(514-516)GAG>AAG	p.E172K	BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank	NM_006876	NP_006867	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal	172	Lumenal (Potential).				poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity				0						TCCCCCGGCTCCCGGGGGTCG	0.682			NA											10	16					0	0	0.013537	0	0
NTM	50863	broad.mit.edu	37	11	132016192	132016192	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr11:132016192C>T	uc001qgp.2	+	2	848	c.184C>T	c.(184-186)CGG>TGG	p.R62W	NTM_uc001qgm.2_Missense_Mutation_p.R62W|NTM_uc010sch.1_Missense_Mutation_p.R53W|NTM_uc010sci.1_Missense_Mutation_p.R62W|NTM_uc010scj.1_Missense_Mutation_p.R21W|NTM_uc001qgo.2_Missense_Mutation_p.R62W|NTM_uc001qgq.2_Missense_Mutation_p.R62W	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	62	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.R62R(1)		ovary(4)|central_nervous_system(1)|skin(1)	6						TATTGACAACCGGGTCACCCG	0.577			NA											11	30					0	0	0.010729	0	0
KCNJ8	3764	broad.mit.edu	37	12	21926414	21926414	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr12:21926414G>A	uc001rff.2	-	2	475	c.137C>T	c.(136-138)GCG>GTG	p.A46V		NM_004982	NP_004973	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel J8	46	Cytoplasmic (By similarity).					voltage-gated potassium channel complex					0					Levosimendan(DB00922)	GTTCTTATGCGCCAGGTTGCA	0.612			NA									OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	31					0	0	0.008871	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr12:25398284C>A	uc001rgp.1	-	2	216	c.35G>T	c.(34-36)GGT>GTT	p.G12V	KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			8	20					0.000442599	0.000497924	0.006214	1	0
MLL2	8085	broad.mit.edu	37	12	49418397	49418397	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr12:49418397G>A	uc001rta.3	-	50	16016	c.16016C>T	c.(16015-16017)GCC>GTC	p.A5339V		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5339					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CTCTGATCGGGCACAGCCAGT	0.567			NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			3	38					0	0	0.004672	0	0
CSAD	51380	broad.mit.edu	37	12	53564229	53564229	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr12:53564229G>A	uc001sby.2	-	8	751	c.625C>T	c.(625-627)CGA>TGA	p.R209*	CSAD_uc001sbw.2_Nonsense_Mutation_p.R62*|CSAD_uc009zmt.2_5'UTR|CSAD_uc010snx.1_Nonsense_Mutation_p.R236*|CSAD_uc001sbz.2_Nonsense_Mutation_p.R209*|CSAD_uc009zmu.2_Nonsense_Mutation_p.R62*|CSAD_uc001sca.3_RNA	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	209					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			ovary(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TTGACCACTCGGACACTGTCG	0.567	Ovarian(109;252 1546 16882 28524 44645)		NA							Hereditary_Prostate_Cancer				20	37					0	0	0.010504	0	0
TIMELESS	8914	broad.mit.edu	37	12	56822747	56822747	+	Silent	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr12:56822747G>A	uc001slf.2	-	11	1392	c.1224C>T	c.(1222-1224)TTC>TTT	p.F408F	TIMELESS_uc001slg.2_Silent_p.F407F	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	408					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						CAATGAAGTGGAAGGTACGGA	0.552			NA											17	42					0	0	0.008871	0	0
SIAH3	283514	broad.mit.edu	37	13	46357677	46357677	+	Silent	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr13:46357677C>T	uc001vap.2	-	2	733	c.651G>A	c.(649-651)ACG>ACA	p.T217T		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	seven in absentia homolog 3	217					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			ovary(1)|skin(1)	2						CAGACCGGGGCGTGGCCTCCC	0.617			NA											22	34					0	0	0.010504	0	0
DCT	1638	broad.mit.edu	37	13	95131260	95131260	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr13:95131260C>A	uc001vlv.3	-	1	677	c.250G>T	c.(250-252)GAG>TAG	p.E84*	DCT_uc010afh.2_Nonsense_Mutation_p.E84*	NM_001922	NP_001913	P40126	TYRP2_HUMAN	dopachrome tautomerase isoform 1	84	Lumenal, melanosome (Potential).				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GGCCACAGCTCACGGTCATCC	0.612			NA											14	41					3.45872e-05	3.9618e-05	0.004007	1	0
GABRG3	2567	broad.mit.edu	37	15	27772631	27772631	+	Silent	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr15:27772631C>T	uc001zbg.1	+	8	1084	c.918C>T	c.(916-918)TCC>TCT	p.S306S		NM_033223	NP_150092	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma	306					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity				0		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CCAGGAAGTCCTTGCCACGCG	0.567	NSCLC(114;800 1656 7410 37729 45293)		NA											20	36					0	0	0.016522	0	0
FUK	197258	broad.mit.edu	37	16	70504952	70504952	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr16:70504952G>A	uc002eyy.2	+	12	1205	c.1147G>A	c.(1147-1149)GTC>ATC	p.V383I	FUK_uc010cft.2_Missense_Mutation_p.V415I|FUK_uc002eyz.2_5'UTR	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	383						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)				TCCTGGGAGCGTCCTGCAGCA	0.682			NA											4	6					0	0	0.009096	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318889	21318889	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr17:21318889C>T	uc002gyv.1	+	3	940	c.235C>T	c.(235-237)CGC>TGC	p.R79C		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	79	Cytoplasmic (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)	TGTGGACATCCGCTGGCGGTA	0.567			NA								Prostate(3;0.18)			4	56					0	0	0.009096	0	0
GRIN2C	2905	broad.mit.edu	37	17	72846417	72846417	+	Silent	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr17:72846417G>A	uc002jlt.1	-	6	1575	c.1419C>T	c.(1417-1419)TAC>TAT	p.Y473Y	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Silent_p.Y473Y	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	473	Extracellular (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GGTACAGGTCGTAGGAGAATT	0.612			NA											49	96					0	0	0.01441	0	0
LAMA1	284217	broad.mit.edu	37	18	6958505	6958505	+	Silent	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr18:6958505G>A	uc002knm.2	-	55	8029	c.7935C>T	c.(7933-7935)GGC>GGT	p.G2645G	LAMA1_uc002knk.2_5'Flank|LAMA1_uc002knl.2_Silent_p.G98G|LAMA1_uc010wzj.1_Silent_p.G2121G	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2645	Laminin G-like 3.				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			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTTGATACAGCCATGGAACG	0.453			NA											5	80					0	0	0.014758	0	0
MEX3C	51320	broad.mit.edu	37	18	48702929	48702929	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr18:48702929T>C	uc002lfc.3	-	2	1772	c.1772A>G	c.(1771-1773)AAT>AGT	p.N591S		NM_016626	NP_057710	Q5U5Q3	MEX3C_HUMAN	ring finger and KH domain containing 2	591						cytoplasm|nucleus	RNA binding|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		GGAACCACCATTGGAAGAGGA	0.478			NA											4	76					0	0	0.009096	0	0
SAFB	6294	broad.mit.edu	37	19	5661591	5661591	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr19:5661591G>A	uc002mcf.2	+	15	1978	c.1925G>A	c.(1924-1926)CGT>CAT	p.R642H	SAFB_uc002mcg.2_Missense_Mutation_p.R642H|SAFB_uc002mce.3_Missense_Mutation_p.R641H|SAFB_uc010xir.1_Missense_Mutation_p.R641H|SAFB_uc010xis.1_Missense_Mutation_p.R573H|SAFB_uc010xit.1_Missense_Mutation_p.R484H|SAFB_uc010xiu.1_Missense_Mutation_p.R441H	NM_002967	NP_002958	Q15424	SAFB1_HUMAN	scaffold attachment factor B	642	Interaction with SAFB2.|Interaction with POLR2A.|Arg-rich.|Glu-rich.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			ovary(1)|liver(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CGCGAGGAGCGTGAGCGGCTG	0.662	Colon(88;338 1345 6184 8214 20897)		NA											13	29					0	0	0.016723	0	0
KIDINS220	57498	broad.mit.edu	37	2	8926114	8926114	+	Silent	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr2:8926114G>A	uc002qzc.2	-	17	2168	c.1986C>T	c.(1984-1986)ATC>ATT	p.I662I	KIDINS220_uc010yiv.1_Silent_p.I428I|KIDINS220_uc002qzd.2_Silent_p.I620I|KIDINS220_uc010yiw.1_Silent_p.I663I	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	662	KAP NTPase.|Helical; (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TAAAAAGGAAGATGACAAAAG	0.328			NA											30	49					0	0	0.019004	0	0
REV1	51455	broad.mit.edu	37	2	100079005	100079005	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr2:100079005G>T	uc002tad.2	-	3	346	c.134C>A	c.(133-135)TCA>TAA	p.S45*	REV1_uc002tac.2_Nonsense_Mutation_p.S45*|REV1_uc002tae.1_Nonsense_Mutation_p.S24*	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	45	BRCT.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			ovary(2)	2						AATTGTAGATGAAGTCCCATC	0.378			NA						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					44	84					1.62957e-23	2.013e-23	0.00874	1	0
RAB6C	84084	broad.mit.edu	37	2	130738393	130738393	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr2:130738393C>A	uc002tpx.1	+	1	1159	c.705C>A	c.(703-705)AAC>AAA	p.N235K	uc002tpw.1_5'Flank	NM_032144	NP_115520	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	235					protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity			lung(1)	1	Colorectal(110;0.1)					TTGGCTTGAACCTTTTCCCTT	0.448			NA											6	79					0.00448238	0.00495421	0.004482	1	0
NMUR1	10316	broad.mit.edu	37	2	232390132	232390132	+	Silent	SNP	G	G	A	rs138820733		TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr2:232390132G>A	uc002vry.3	-	3	1013	c.903C>T	c.(901-903)GTC>GTT	p.V301V		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	301	Helical; Name=6; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			lung(3)|central_nervous_system(1)|pancreas(1)	5		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CCACGACCAGGACAACTGCAG	0.642			NA											12	19					0	0	0.003163	0	0
C20orf194	25943	broad.mit.edu	37	20	3278717	3278717	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr20:3278717G>C	uc002wii.2	-	22	1939	c.1888C>G	c.(1888-1890)CTT>GTT	p.L630V	C20orf194_uc002wij.3_Missense_Mutation_p.L369V|C20orf194_uc002wik.2_Missense_Mutation_p.L304V	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	630											0						TTGGGGAAAAGGGCAATCATC	0.388			NA											41	73					0	0	0.011902	0	0
XKR7	343702	broad.mit.edu	37	20	30584388	30584388	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr20:30584388G>A	uc002wxe.2	+	3	1042	c.868G>A	c.(868-870)GAC>AAC	p.D290N		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	290						integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTCGCGGGACGACAAGCGGCC	0.697			NA											12	17					0	0	0.010729	0	0
LPP	4026	broad.mit.edu	37	3	188477903	188477903	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr3:188477903C>T	uc003frs.1	+	8	1489	c.1243C>T	c.(1243-1245)CGC>TGC	p.R415C	LPP_uc011bsg.1_Missense_Mutation_p.R268C|LPP_uc011bsi.1_Missense_Mutation_p.R415C|LPP_uc011bsj.1_Missense_Mutation_p.R252C	NM_005578	NP_005569	Q93052	LPP_HUMAN	LIM domain containing preferred translocation	415	LIM zinc-binding 1.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TTTTCCAGGCCGCTGTGCTCG	0.483			NA	T	HMGA2|MLL|C12orf9	lipoma|leukemia								9	29					0	0	0.010729	0	0
ADH4	127	broad.mit.edu	37	4	100062801	100062802	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr4:100062801_100062802GG>TT	uc003hun.2	-	3	228_229	c.152_153CC>AA	c.(151-153)GCC>GAA	p.A51E	uc003hum.1_Intron|ADH4_uc011ced.1_Missense_Mutation_p.A70E	NM_000670	NP_000661	P08319	ADH4_HUMAN	class II alcohol dehydrogenase, pi subunit	51					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			skin(2)	2				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	CGATAACAGTGGCATCAGTATG	0.441			NA											7	61					0	0	0.004672	0	0
MND1	84057	broad.mit.edu	37	4	154318419	154318419	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr4:154318419A>T	uc003ink.1	+	6	489	c.400A>T	c.(400-402)AGG>TGG	p.R134W		NM_032117	NP_115493	Q9BWT6	MND1_HUMAN	GAJ protein	134	Potential.				DNA recombination|meiosis	nucleus	DNA binding				0	all_hematologic(180;0.093)					TCGAGACCAAAGGGAACAGCT	0.378			NA											7	22					0	0	0.006214	0	0
CDH9	1007	broad.mit.edu	37	5	26903857	26903857	+	Silent	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr5:26903857G>A	uc003jgs.1	-	6	1057	c.888C>T	c.(886-888)GAC>GAT	p.D296D	CDH9_uc010iug.2_Silent_p.D296D	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	296	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						TTTCCCCCACGTCAGGGTCAT	0.408	Melanoma(8;187 585 15745 40864 52829)		NA											64	164					0	0	0.01441	0	0
RFESD	317671	broad.mit.edu	37	5	94991871	94991871	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr5:94991871G>A	uc003klf.2	+	5	1724	c.332G>A	c.(331-333)TGC>TAC	p.C111Y	RFESD_uc003klg.2_Missense_Mutation_p.C164Y|RFESD_uc011cun.1_Missense_Mutation_p.C164Y|SPATA9_uc010jbh.1_Intron|SPATA9_uc003klh.1_Intron|SPATA9_uc003kli.1_Intron	NM_173362	NP_775498	Q8TAC1	RFESD_HUMAN	Rieske (Fe-S) domain containing isoform 2	111	Rieske 2.						2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity				0		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)		all cancers(79;5.94e-17)		CCCAAGTGGTGCTCCAAAGGA	0.383			NA											38	15					0	0	0.00874	0	0
NKX2-5	1482	broad.mit.edu	37	5	172661900	172661900	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr5:172661900C>A	uc003mcm.1	-	1	363	c.187G>T	c.(187-189)GCG>TCG	p.A63S	NKX2-5_uc011dfe.1_Missense_Mutation_p.A63S|NKX2-5_uc010jjt.1_Missense_Mutation_p.A63S	NM_004387	NP_004378	P52952	NKX25_HUMAN	NK2 transcription factor related, locus 5	63	Ala/Pro-rich.		A -> V (in ASD-AVCD).		adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AGGCCCGGCGCAGCCGCCTCG	0.741	Esophageal Squamous(72;810 1219 2387 13420 44943)		NA											7	1					7.48243e-07	8.7295e-07	0.006214	1	0
SLC22A7	10864	broad.mit.edu	37	6	43266308	43266308	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr6:43266308G>A	uc003out.2	+	1	311	c.212G>A	c.(211-213)CGG>CAG	p.R71Q	SLC22A7_uc010jyl.1_Missense_Mutation_p.R71Q|SLC22A7_uc003ous.2_Missense_Mutation_p.R71Q	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	solute carrier family 22 member 7 isoform b	71						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity				0			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CATCTTCCCCGGGAGCCTGAT	0.662			NA											8	22					0	0	0.00308	0	0
MAP3K7	6885	broad.mit.edu	37	6	91260267	91260267	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr6:91260267T>C	uc003pnz.1	-	9	1031	c.869A>G	c.(868-870)TAC>TGC	p.Y290C	MAP3K7_uc003poa.1_Missense_Mutation_p.Y290C|MAP3K7_uc003pob.1_Missense_Mutation_p.Y290C|MAP3K7_uc003poc.1_Missense_Mutation_p.Y290C	NM_145331	NP_663304	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	290	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|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|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TCCTGGAAAGTACTATATATA	0.328			NA											18	46					0	0	0.007413	0	0
CLN8	2055	broad.mit.edu	37	8	1719548	1719548	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr8:1719548G>A	uc003wpo.3	+	2	633	c.328G>A	c.(328-330)GCA>ACA	p.A110T		NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8	110	TLC.|Helical; (Potential).				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		CATCACGACAGCAACGGGATT	0.542	Pancreas(155;338 1942 6138 10888 50612)		NA											3	90					0	0	0.004672	0	0
HGSNAT	138050	broad.mit.edu	37	8	43025814	43025814	+	Silent	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr8:43025814C>T	uc003xpx.3	+	7	768	c.720C>T	c.(718-720)CTC>CTT	p.L240L		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	268	Cytoplasmic (Potential).				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity				0	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CGCCCCGCCTCCGCAGCGTGG	0.562			NA											6	8					0	0	0.00308	0	0
LRP12	29967	broad.mit.edu	37	8	105510147	105510147	+	Silent	SNP	A	A	G			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr8:105510147A>G	uc003yma.2	-	5	728	c.633T>C	c.(631-633)GCT>GCC	p.A211A	LRP12_uc003ymb.2_Silent_p.A192A|LRP12_uc003ylz.2_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	211	Extracellular (Potential).				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGGGTTGAAAAGCAGCAGCAG	0.423			NA											3	176					0	0	0.014758	0	0
SYBU	55638	broad.mit.edu	37	8	110588223	110588223	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr8:110588223G>A	uc003ynj.3	-	7	1067	c.904C>T	c.(904-906)CTT>TTT	p.L302F	SYBU_uc003yni.3_Missense_Mutation_p.L299F|SYBU_uc003ynk.3_Missense_Mutation_p.L183F|SYBU_uc010mco.2_Missense_Mutation_p.L301F|SYBU_uc003ynl.3_Missense_Mutation_p.L301F|SYBU_uc010mcp.2_Missense_Mutation_p.L302F|SYBU_uc010mcq.2_Missense_Mutation_p.L302F|SYBU_uc003yno.3_Missense_Mutation_p.L183F|SYBU_uc010mcr.2_Missense_Mutation_p.L302F|SYBU_uc003ynm.3_Missense_Mutation_p.L301F|SYBU_uc003ynn.3_Missense_Mutation_p.L301F|SYBU_uc010mcs.2_Missense_Mutation_p.L183F|SYBU_uc010mct.2_Missense_Mutation_p.L302F|SYBU_uc010mcu.2_Missense_Mutation_p.L301F|SYBU_uc003ynp.3_Missense_Mutation_p.L234F|SYBU_uc010mcv.2_Missense_Mutation_p.L302F|SYBU_uc003ynh.3_Missense_Mutation_p.L96F|SYBU_uc011lhw.1_Missense_Mutation_p.L172F	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	302	Potential.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						TGGGACTTAAGCTCCACGATT	0.443			NA											12	41					0	0	0.003163	0	0
KIAA1432	57589	broad.mit.edu	37	9	5765734	5765734	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr9:5765734G>T	uc003zji.2	+	20	2929	c.2836G>T	c.(2836-2838)GTT>TTT	p.V946F	KIAA1432_uc003zjh.2_Missense_Mutation_p.V946F|KIAA1432_uc003zjl.3_Missense_Mutation_p.V909F|KIAA1432_uc003zjj.1_Missense_Mutation_p.V488F|ERMP1_uc011lme.1_RNA	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN	connexin 43-interacting protein 150 isoform a	1025						integral to membrane					0		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		AGCTGAAAATGTTCCTGCCAG	0.408			NA											13	113					2.32078e-09	2.75867e-09	0.003163	1	0
LOC442421	442421	broad.mit.edu	37	9	66499793	66499793	+	Silent	SNP	G	G	A	rs138477209	by1000genomes	TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr9:66499793G>A	uc004aee.1	+	1	603	c.603G>A	c.(601-603)TCG>TCA	p.S201S	LOC442421_uc004aed.1_RNA					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).												0						TGTGCAAGTCGCGCAAGGAGC	0.587			NA											6	68					0	0	0.010729	0	0
FAM75C1	441452	broad.mit.edu	37	9	90535185	90535185	+	Silent	SNP	T	T	C			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr9:90535185T>C	uc010mqi.2	+	4	392	c.363T>C	c.(361-363)CTT>CTC	p.L121L	FAM75C1_uc004apq.3_Silent_p.L104L	NM_001145124	NP_001138596			family with sequence similarity 75, member C1												0						GGCCACACCTTGAAAAAGGTG	0.622			NA											3	37					0	0	0.004672	0	0
PPAPDC3	84814	broad.mit.edu	37	9	134183555	134183555	+	Missense_Mutation	SNP	G	G	A	rs148777558		TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr9:134183555G>A	uc004cal.2	+	2	1001	c.697G>A	c.(697-699)GGC>AGC	p.G233S		NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain	233	Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(1)	1	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CGTGATGATCGGCCGCCACCA	0.657			NA											9	20					0	0	0.008291	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070695	141070695	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr9:141070695G>A	uc004com.2	+	4	359	c.98G>A	c.(97-99)CGC>CAC	p.R33H	TUBBP5_uc010ncq.2_Silent_p.T210T					RecName: Full=Putative tubulin beta-4q chain;												0						GCCAAGGGACGCTACACCGAA	0.592			NA											3	1					0	0	0.014758	0	0
ODZ1	10178	broad.mit.edu	37	X	123780627	123780627	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chrX:123780627C>T	uc004euj.2	-	9	1677	c.1613G>A	c.(1612-1614)GGA>GAA	p.G538E	ODZ1_uc011muj.1_Missense_Mutation_p.G537E|ODZ1_uc010nqy.2_Missense_Mutation_p.G538E	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	538	Extracellular (Potential).|EGF-like 1.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						CTCTCCATTTCCATTGCAATT	0.373			NA											16	11					0	0	0.004007	0	0
IGSF1	3547	broad.mit.edu	37	X	130416522	130416522	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chrX:130416522T>A	uc004ewd.2	-	7	1380	c.1142A>T	c.(1141-1143)AAT>ATT	p.N381I	IGSF1_uc004ewe.3_Missense_Mutation_p.N370I|IGSF1_uc004ewf.2_Missense_Mutation_p.N361I	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	381	Ig-like C2-type 4.|Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						GTAGGTTACATTGTTGAGGAA	0.443			NA											45	14					0	0	0.01441	0	0
HMGCL	3155	broad.mit.edu	37	1	24151854	24151854	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr1:24151854delG	uc001bib.2	-	1	96	c.52delC	c.(52-54)CTCfs	p.L18fs	HMGCL_uc010oec.1_Frame_Shift_Del_p.L18fs|HMGCL_uc009vqr.2_Frame_Shift_Del_p.L18fs|HMGCL_uc001bic.2_Intron|HMGCL_uc009vqs.1_Frame_Shift_Del_p.L18fs|HMGCL_uc001bid.1_Frame_Shift_Del_p.L18fs	NM_000191	NP_000182	P35914	HMGCL_HUMAN	3-hydroxy-3-methylglutaryl CoA lyase isoform 1	18					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		ACAGCCCGGAGGGACGCCAAG	0.697			NA											2	4	---	---	---	---	NA	NA	NA	NA	NA
MAP3K12	7786	broad.mit.edu	37	12	53879112	53879114	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr12:53879112_53879114delCTT	uc001sdm.1	-	6	966_968	c.868_870delAAG	c.(868-870)AAGdel	p.K290del	MAP3K12_uc001sdn.1_In_Frame_Del_p.K323del	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	290	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5						AGATGTCGACCTTCTCAGACACA	0.547			NA											51	121	---	---	---	---	NA	NA	NA	NA	NA
CORO1C	23603	broad.mit.edu	37	12	109052668	109052686	+	Frame_Shift_Del	DEL	TTCCAGATGATAATGGCAT	TTCCAGATGATAATGGCAT	-			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	TTCCAGATGATAATGGCAT	TTCCAGATGATAATGGCAT	-	-	TTCCAGATGATAATGGCAT	TTCCAGATGATAATGGCAT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr12:109052668_109052686delTTCCAGATGATAATGGCAT	uc001tnj.2	-	5	554_572	c.458_476delATGCCATTATCATCTGGAA	c.(457-477)AATGCCATTATCATCTGGAATfs	p.N153fs	CORO1C_uc009zva.2_Frame_Shift_Del_p.N206fs|CORO1C_uc010sxf.1_Intron	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C isoform 1	153_159	WD 2.				actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			skin(3)	3						TGTTCCCACATTCCAGATGATAATGGCATTATCACAGCC	0.406			NA											13	124	---	---	---	---	NA	NA	NA	NA	NA