Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ABCC11	85320	broad.mit.edu	37	16	48261771	48261771	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr16:48261771T>A	ENST00000394747.1	-	3	690	c.341A>T	c.(340-342)gAg>gTg	p.E114V	ABCC11_ENST00000353782.5_Missense_Mutation_p.E114V|ABCC11_ENST00000537808.1_Missense_Mutation_p.E114V|ABCC11_ENST00000394748.1_Missense_Mutation_p.E114V|ABCC11_ENST00000356608.2_Missense_Mutation_p.E114V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	114						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GATGGTGTTCTCATCTAAGCG	0.537000													31	111					0	0	0.013726	0	0
ANKRD30BP3	338579	broad.mit.edu	37	10	45652393	45652393	+	RNA	SNP	C	C	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr10:45652393C>A	ENST00000427229.2	+	0	1907																											AAAGTTTGAACAGTCAGCAGA	0.423000													19	9					1.33834e-09	1.57061e-09	0.007413	1	0
MYOM3	127294	broad.mit.edu	37	1	24392318	24392318	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr1:24392318C>G	ENST00000329601.7	-	30	3765	c.3603G>C	c.(3601-3603)aaG>aaC	p.K1201N	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Intron|MYOM3_ENST00000330966.7_Intron|MYOM3_ENST00000338909.5_Intron			Q5VTT5	MYOM3_HUMAN	myomesin 3	238	Ig-like C2-type 3.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCCCAGAGCTCTTGGCCCTCC	0.552000													15	32					0	0	0.002450	0	0
PAPPA2	60676	broad.mit.edu	37	1	176762762	176762762	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr1:176762762C>G	ENST00000367662.3	+	20	6251	c.5087C>G	c.(5086-5088)aCt>aGt	p.T1696S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1696	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAGAATATCACTGCTGACACT	0.493000													59	111					0	0	0.014410	0	0
CCR6	1235	broad.mit.edu	37	6	167550348	167550348	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr6:167550348G>A	ENST00000341935.5	+	3	1182	c.630G>A	c.(628-630)tgG>tgA	p.W210*	CCR6_ENST00000349984.4_Nonsense_Mutation_p.W210*|CCR6_ENST00000400926.2_Nonsense_Mutation_p.W210*	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	210					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CCATCAGGTGGAAGCTGCTGA	0.448000													25	47					0	0	0.005443	0	0
LRP1B	53353	broad.mit.edu	37	2	141093378	141093378	+	Silent	SNP	A	A	G			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr2:141093378A>G	ENST00000389484.3	-	78	12893	c.11922T>C	c.(11920-11922)atT>atC	p.I3974I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3974					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTCAACTGCAATGTCCCTGG	0.418000										TSP Lung(27;0.18)			21	130					0	0	0.012319	0	0
DPF1	8193	broad.mit.edu	37	19	38704372	38704372	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr19:38704372G>T	ENST00000416611.1	-	10	1049	c.926C>A	c.(925-927)aCg>aAg	p.T309K	DPF1_ENST00000414789.1_Missense_Mutation_p.T253K|DPF1_ENST00000420980.2_Missense_Mutation_p.T291K|DPF1_ENST00000355526.4_Missense_Mutation_p.T335K|DPF1_ENST00000456296.1_Missense_Mutation_p.T309K|DPF1_ENST00000412732.1_Missense_Mutation_p.T253K			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	291					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CATGTTCACCGTGAATTGTAA	0.642000													29	30					7.38237e-10	8.80921e-10	0.006320	1	0
MKRN3	7681	broad.mit.edu	37	15	23811531	23811531	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr15:23811531C>A	ENST00000314520.3	+	1	1078	c.602C>A	c.(601-603)gCg>gAg	p.A201E	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	201						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.A201V(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GAAAGCTGGGCGGATGCCATT	0.592000													12	24					2.80697e-09	3.26713e-09	0.010729	1	0
TTLL7	79739	broad.mit.edu	37	1	84417596	84417596	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr1:84417596C>A	ENST00000260505.8	-	3	466	c.89G>T	c.(88-90)aGg>aTg	p.R30M	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	30					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TCTGACTTTCCTTTTCATTGT	0.353000													20	75					4.63292e-17	6.01159e-17	0.008871	1	0
TRPV4	59341	broad.mit.edu	37	12	110236638	110236638	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr12:110236638C>A	ENST00000418703.2	-	5	1027	c.933G>T	c.(931-933)aaG>aaT	p.K311N	TRPV4_ENST00000536838.1_Missense_Mutation_p.K277N|TRPV4_ENST00000541794.1_Missense_Mutation_p.K264N|TRPV4_ENST00000544971.1_Missense_Mutation_p.K264N|TRPV4_ENST00000261740.2_Missense_Mutation_p.K311N|TRPV4_ENST00000346520.2_Missense_Mutation_p.K311N|TRPV4_ENST00000392719.2_Missense_Mutation_p.K264N|TRPV4_ENST00000537083.1_Missense_Mutation_p.K311N	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	311					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GCATGTCCGCCTTCTTGTGGG	0.617000													13	60					1.49906e-05	1.56519e-05	0.002450	1	0
CD97	976	broad.mit.edu	37	19	14512314	14512314	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr19:14512314G>C	ENST00000242786.5	+	10	1094	c.1014G>C	c.(1012-1014)atG>atC	p.M338I	CD97_ENST00000358600.3_Missense_Mutation_p.M245I|CD97_ENST00000357355.3_Missense_Mutation_p.M289I	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	338					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AAGATATCATGAGGATCCTGG	0.597000													16	19					0	0	0.004007	0	0
ACACB	32	broad.mit.edu	37	12	109671560	109671560	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr12:109671560G>C	ENST00000338432.7	+	30	4266	c.4147G>C	c.(4147-4149)Gat>Cat	p.D1383H	ACACB_ENST00000377854.5_Missense_Mutation_p.D1313H|ACACB_ENST00000543201.1_Missense_Mutation_p.D49H|ACACB_ENST00000377848.3_Missense_Mutation_p.D1383H			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1383				D -> G (in Ref. 6; AAC50571).	acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CAGAAATTTTGATGAAGTCAT	0.597000													28	46					0	0	0.004656	0	0
SIAH3	283514	broad.mit.edu	37	13	46358015	46358015	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr13:46358015A>G	ENST00000400405.2	-	2	419	c.313T>C	c.(313-315)Tgc>Cgc	p.C105R		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	105					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						ATGCACAGGCAGGGCGTCACC	0.687000													8	61					0	0	0.006214	0	0
LRP2	4036	broad.mit.edu	37	2	170134283	170134283	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr2:170134283C>G	ENST00000263816.3	-	13	2029	c.1744G>C	c.(1744-1746)Gaa>Caa	p.E582Q	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	582					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTTACAGTTTCAATGTAATCA	0.388000													17	152					0	0	0.008871	0	0
CHAF1A	10036	broad.mit.edu	37	19	4428734	4428734	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr19:4428734G>A	ENST00000301280.5	+	8	1552	c.1451G>A	c.(1450-1452)cGg>cAg	p.R484Q		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	484					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCGGCGTCGGACCGCTTTC	0.597000								Chromatin Structure					25	56					0	0	0.005443	0	0
TAF1L	138474	broad.mit.edu	37	9	32635343	32635343	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr9:32635343C>T	ENST00000242310.4	-	1	324	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	79					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GCCGTGAGTTCAGTGATTAGG	0.527000													37	58					0	0	0.004289	0	0
UTP23	84294	broad.mit.edu	37	8	117782546	117782546	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr8:117782546G>C	ENST00000309822.2	+	2	405	c.304G>C	c.(304-306)Gaa>Caa	p.E102Q	UTP23_ENST00000520733.1_5'UTR|UTP23_ENST00000357148.3_Missense_Mutation_p.E102Q|UTP23_ENST00000517820.1_Intron	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	102					rRNA processing	nucleolus				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						GAGTGGATCAGAATGTCTGCT	0.393000													15	173					0	0	0.003163	0	0
RUVBL1	8607	broad.mit.edu	37	3	127842496	127842496	+	Silent	SNP	C	C	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr3:127842496C>T	ENST00000322623.5	-	1	171	c.72G>A	c.(70-72)ctG>ctA	p.L24L	RUVBL1_ENST00000464873.1_Intron|RUVBL1_ENST00000417360.1_Silent_p.L24L	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	24					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		CGTCCAGCCCCAGCCCTTTCA	0.637000													14	29					0	0	0.003163	0	0
NETO1	81832	broad.mit.edu	37	18	70526237	70526237	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr18:70526237A>C	ENST00000327305.6	-	4	950	c.293T>G	c.(292-294)tTt>tGt	p.F98C	NETO1_ENST00000299430.2_Missense_Mutation_p.F97C|NETO1_ENST00000583169.1_Missense_Mutation_p.F98C|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.F97C	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	98	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AATATGATCAAATTTGCACTC	0.393000													23	80					0	0	0.012319	0	0
SMC2	10592	broad.mit.edu	37	9	106864469	106864469	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr9:106864469G>C	ENST00000286398.7	+	8	1153	c.865G>C	c.(865-867)Gat>Cat	p.D289H	SMC2_ENST00000374787.3_Missense_Mutation_p.D289H|SMC2_ENST00000374793.3_Missense_Mutation_p.D289H|SMC2_ENST00000303219.8_Missense_Mutation_p.D289H	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	289					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AAAAAGAAAAGATAAGGTCTG	0.269000													9	27					0	0	0.006214	0	0
MFAP4	4239	broad.mit.edu	37	17	19287986	19287986	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr17:19287986G>A	ENST00000395592.2	-	6	700	c.629C>T	c.(628-630)tCt>tTt	p.S210F	MFAP4_ENST00000497081.2_Missense_Mutation_p.S211F|MFAP4_ENST00000299610.4_Missense_Mutation_p.S186F	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	186	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding			large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GTCGAAGGTAGAGAACTTCTG	0.617000													25	123					0	0	0.005443	0	0
MYO1B	4430	broad.mit.edu	37	2	192257825	192257825	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr2:192257825G>T	ENST00000392318.3	+	20	2350	c.2103G>T	c.(2101-2103)aaG>aaT	p.K701N	MYO1B_ENST00000304164.4_Missense_Mutation_p.K701N|MYO1B_ENST00000439065.2_5'UTR|MYO1B_ENST00000392316.1_Missense_Mutation_p.K701N|MYO1B_ENST00000339514.4_Missense_Mutation_p.K701N	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	701						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			ACCTGAGGAAGCAACGCCTGG	0.408000													16	79					1.62849e-17	2.14116e-17	0.004007	1	0
CLEC2B	9976	broad.mit.edu	37	12	10010225	10010225	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr12:10010225G>A	ENST00000228438.2	-	3	1018	c.85C>T	c.(85-87)Cga>Tga	p.R29*		NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B	29						integral to plasma membrane	sugar binding			endometrium(1)|large_intestine(3)|lung(1)	5						TGAGAATCTCGAGTTAGTTTA	0.318000													9	25					0	0	0.006214	0	0
WDR1	9948	broad.mit.edu	37	4	10083005	10083005	+	Silent	SNP	G	G	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr4:10083005G>A	ENST00000382452.2	-	11	1542	c.1260C>T	c.(1258-1260)taC>taT	p.Y420Y	WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000499869.2_Silent_p.Y420Y|WDR1_ENST00000502702.1_Silent_p.Y280Y|WDR1_ENST00000382451.2_Silent_p.Y280Y	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	420					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CGACCACGGCGTATCCCCCGG	0.557000													8	41					0	0	0.006214	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|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 -> 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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	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)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			9	18					4.68919e-08	5.24303e-08	0.008291	1	0
FSCB	84075	broad.mit.edu	37	14	44974569	44974569	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr14:44974569T>C	ENST00000340446.4	-	1	1913	c.1622A>G	c.(1621-1623)gAa>gGa	p.E541G		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	541	Ala-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGACTGAGCTTCAGCAGGAGT	0.493000													8	48					0	0	0.004482	0	0
KCNJ10	3766	broad.mit.edu	37	1	160012237	160012237	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr1:160012237C>T	ENST00000368089.3	-	2	312	c.86G>A	c.(85-87)aGa>aAa	p.R29K		NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	29						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTCAGGACTCTCCGCCGTCG	0.542000													18	129					0	0	0.006122	0	0
XRN1	54464	broad.mit.edu	37	3	142037437	142037437	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr3:142037437T>A	ENST00000264951.4	-	39	4732	c.4615A>T	c.(4615-4617)Act>Tct	p.T1539S	XRN1_ENST00000392981.2_Missense_Mutation_p.T1540S	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1539					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ATCTTACCAGTAGGTGGGGGA	0.368000													3	5					0	0	0.004672	0	0
SLC2A13	114134	broad.mit.edu	37	12	40258639	40258639	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr12:40258639G>A	ENST00000280871.4	-	6	1294	c.1244C>T	c.(1243-1245)tCa>tTa	p.S415L		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	415						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				AACTTGGGCTGATAGCACAAA	0.398000										HNSCC(50;0.14)			33	127					0	0	0.013726	0	0
ZNF536	9745	broad.mit.edu	37	19	31025821	31025821	+	Silent	SNP	G	G	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr19:31025821G>T	ENST00000355537.3	+	3	2385	c.2238G>T	c.(2236-2238)ctG>ctT	p.L746L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	746					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACAGAAGCCTGGGCTCGGCCA	0.567000													34	92					4.65686e-17	6.01159e-17	0.003755	1	0
DCUN1D2	55208	broad.mit.edu	37	13	114138335	114138335	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr13:114138335G>A	ENST00000478244.1	-	2	322	c.40C>T	c.(40-42)Cag>Tag	p.Q14*	DCUN1D2_ENST00000332592.3_Intron|DCUN1D2_ENST00000375399.2_Nonsense_Mutation_p.Q14*	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	14	UBA-like.									breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			GCCATAAACTGGCGGACCTTG	0.502000													41	121					0	0	0.006230	0	0
INSC	387755	broad.mit.edu	37	11	15197423	15197423	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr11:15197423G>T	ENST00000379554.3	+	3	380	c.334G>T	c.(334-336)Gca>Tca	p.A112S	INSC_ENST00000528567.1_Missense_Mutation_p.A65S|INSC_ENST00000379556.3_Missense_Mutation_p.A65S|INSC_ENST00000530161.1_Missense_Mutation_p.A65S|INSC_ENST00000525218.1_Missense_Mutation_p.A65S|INSC_ENST00000424273.1_Missense_Mutation_p.A65S	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	112					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CCTCATCCTGGCAGGTGGCCC	0.617000													18	23					1.01871e-10	1.22591e-10	0.008871	1	0
STXBP5	134957	broad.mit.edu	37	6	147680300	147680300	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr6:147680300G>A	ENST00000367481.3	+	21	2386	c.2278G>A	c.(2278-2280)Gct>Act	p.A760T	STXBP5_ENST00000321680.6_Missense_Mutation_p.A796T|STXBP5_ENST00000367480.3_Missense_Mutation_p.A743T|STXBP5_ENST00000179882.6_Missense_Mutation_p.A451T	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	796					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AGCGATCTCCGCTCTTCATTT	0.443000													14	22					0	0	0.003163	0	0
BMS1P20	96610	broad.mit.edu	37	22	22661181	22661181	+	RNA	SNP	C	C	G	rs73880611	by1000genomes	TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr22:22661181C>G	ENST00000426066.1	+	0	273					NR_027293.1																						TTTCCCCCCCCACCCCGTCAT	0.413000													3	22					0	0	0.009096	0	0
CCDC178	374864	broad.mit.edu	37	18	30926187	30926187	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr18:30926187C>A	ENST00000383096.3	-	9	828	c.646G>T	c.(646-648)Gct>Tct	p.A216S	CCDC178_ENST00000579947.1_Missense_Mutation_p.A216S|CCDC178_ENST00000300227.8_Missense_Mutation_p.A216S|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.A216S|CCDC178_ENST00000402325.1_Missense_Mutation_p.A216S|CCDC178_ENST00000403303.1_Missense_Mutation_p.A216S|CCDC178_ENST00000406524.2_Missense_Mutation_p.A216S					coiled-coil domain containing 178																		TTCTGCACAGCCAATGGGAGT	0.328000													36	51					9.8876e-21	1.31219e-20	0.004878	1	0
TNN	63923	broad.mit.edu	37	1	175116204	175116204	+	Silent	SNP	C	C	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr1:175116204C>T	ENST00000239462.4	+	19	4010	c.3897C>T	c.(3895-3897)ttC>ttT	p.F1299F		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1299					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGCGAACGTTCTGATGGCCCG	0.607000											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	42					0	0	0.004990	0	0
MARK2	2011	broad.mit.edu	37	11	63668529	63668529	+	Nonsense_Mutation	SNP	C	C	G			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr11:63668529C>G	ENST00000402010.2	+	11	1668	c.1089C>G	c.(1087-1089)taC>taG	p.Y363*	MARK2_ENST00000509502.2_Nonsense_Mutation_p.Y330*|MARK2_ENST00000350490.7_Nonsense_Mutation_p.Y363*|MARK2_ENST00000413835.2_Nonsense_Mutation_p.Y363*|MARK2_ENST00000361128.5_Nonsense_Mutation_p.Y363*|MARK2_ENST00000377810.3_Nonsense_Mutation_p.Y330*|MARK2_ENST00000502399.3_Nonsense_Mutation_p.Y363*|MARK2_ENST00000425897.2_Nonsense_Mutation_p.Y330*|MARK2_ENST00000408948.3_Nonsense_Mutation_p.Y330*|MARK2_ENST00000508192.1_Nonsense_Mutation_p.Y363*|MARK2_ENST00000377809.4_Nonsense_Mutation_p.Y363*|MARK2_ENST00000513765.2_Nonsense_Mutation_p.Y330*|MARK2_ENST00000315032.8_Nonsense_Mutation_p.Y363*	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	363					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						TCCTGGGCTACAAGAGCTCCG	0.572000													29	21					0	0	0.006320	0	0
NUDT22	84304	broad.mit.edu	37	11	63996792	63996792	+	Missense_Mutation	SNP	G	G	A	rs147573630		TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr11:63996792G>A	ENST00000279206.3	+	4	809	c.653G>A	c.(652-654)cGa>cAa	p.R218Q	RP11-783K16.14_ENST00000534988.1_RNA|NUDT22_ENST00000441250.2_Missense_Mutation_p.R185Q	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720.1	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	218	Nudix hydrolase.						hydrolase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						AGTGCTGGCCGAGCCAGTGCC	0.647000													3	8					0	0	0.004672	0	0
RPSAP52	204010	broad.mit.edu	37	12	66152274	66152274	+	RNA	SNP	G	G	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr12:66152274G>A	ENST00000489520.2	-	0	669					NR_026825.2																						CTGACCCACTGAGGGAGCTCC	0.502000													9	31					0	0	0.006214	0	0
SLC4A2	6522	broad.mit.edu	37	7	150761356	150761356	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr7:150761356G>A	ENST00000485713.1	+	3	1159	c.119G>A	c.(118-120)cGc>cAc	p.R40H	SLC4A2_ENST00000461735.1_Missense_Mutation_p.R26H|SLC4A2_ENST00000392826.2_Missense_Mutation_p.R31H|SLC4A2_ENST00000310317.5_Intron|SLC4A2_ENST00000413384.2_Missense_Mutation_p.R40H	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	40	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAACTTCACCGCACCCTGGGC	0.622000													4	76					0	0	0.000602	0	0
EVC2	132884	broad.mit.edu	37	4	5624431	5624431	+	Silent	SNP	C	C	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr4:5624431C>T	ENST00000310917.2	-	14	2825	c.2094G>A	c.(2092-2094)gaG>gaA	p.E698E	EVC2_ENST00000344938.1_Silent_p.E778E|EVC2_ENST00000344408.5_Silent_p.E778E	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	778						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TGCCGTGCTCCTCCAGGATCT	0.657000													15	57					0	0	0.003163	0	0
STAP1	26228	broad.mit.edu	37	4	68472042	68472042	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr4:68472042T>A	ENST00000265404.2	+	9	937	c.855T>A	c.(853-855)agT>agA	p.S285R	STAP1_ENST00000396225.1_Missense_Mutation_p.S285R	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	285					cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						AAGGGAGAAGTGAAAAGTTGA	0.323000													13	32					0	0	0.004990	0	0
KEAP1	9817	broad.mit.edu	37	19	10600417	10600417	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr19:10600417C>A	ENST00000171111.5	-	4	1985	c.1438G>T	c.(1438-1440)Ggg>Tgg	p.G480W	KEAP1_ENST00000393623.2_Missense_Mutation_p.G480W	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.G480W(2)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CGGTTTGTCCCGTCAAAGCCC	0.582000													39	8					1.49673e-21	2.00506e-21	0.006230	1	0
FSD1	79187	broad.mit.edu	37	19	4312015	4312015	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr19:4312015G>T	ENST00000221856.6	+	7	814	c.667G>T	c.(667-669)Gag>Tag	p.E223*	FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Nonsense_Mutation_p.E223*	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	223	Fibronectin type-III.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GATGGTCATCGAGGGCATCCG	0.637000													10	2					9.70103e-10	1.14795e-09	0.008291	1	0
SPIN1	10927	broad.mit.edu	37	9	91041471	91041471	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr9:91041471G>T	ENST00000375859.3	+	2	295	c.17G>T	c.(16-18)gGa>gTa	p.G6V	SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Missense_Mutation_p.G6V	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	6					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						ACCCCATTCGGAAAGACACCT	0.393000													8	17					5.18039e-06	5.48967e-06	0.003080	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125261950	125261950	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr2:125261950C>T	ENST00000431078.1	+	8	1505	c.1141C>T	c.(1141-1143)Ccc>Tcc	p.P381S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	381	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTTGCTGCTGCCCGGCACCCC	0.517000													16	90					0	0	0.004007	0	0
EEF1D	1936	broad.mit.edu	37	8	144671194	144671194	+	Missense_Mutation	SNP	C	C	A	rs145843229	byFrequency	TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr8:144671194C>A	ENST00000532741.1	-	1	1436	c.1208G>T	c.(1207-1209)cGg>cTg	p.R403L	EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.R353L|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.R353L|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000529272.1_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	0					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	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)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CAGGCCAGACCGAGGACCGGG	0.697000													13	12					7.93312e-07	8.53411e-07	0.002450	1	0
GNAS	2778	broad.mit.edu	37	20	57415891	57415891	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr20:57415891C>T	ENST00000313949.7	+	1	1119	c.730C>T	c.(730-732)Cgt>Tgt	p.R244C	GNAS_ENST00000371098.2_Missense_Mutation_p.R244C|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.R244C			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R244G(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCCCATCCGGCGTCACTAATG	0.612000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			11	32					0	0	0.008291	0	0
TBC1D5	9779	broad.mit.edu	37	3	17446369	17446369	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr3:17446369C>T	ENST00000253692.7	-	6	2025	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	TBC1D5_ENST00000429924.2_Missense_Mutation_p.E73K|TBC1D5_ENST00000446818.2_Missense_Mutation_p.E121K|TBC1D5_ENST00000429383.4_Missense_Mutation_p.E121K|TBC1D5_ENST00000414318.2_Intron	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	121	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CTTACTATTTCTTTAATGTTG	0.303000													11	14					0	0	0.008291	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711266	140711266	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr5:140711266G>T	ENST00000517417.1	+	1	1015	c.1015G>T	c.(1015-1017)Gat>Tat	p.D339Y	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D339Y	NM_018912.2	NP_061735.1												p.D339N(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAAGTTTTGGATGTAAATGA	0.433000													20	52					4.35082e-09	5.02289e-09	0.010504	1	0
ZNF804B	219578	broad.mit.edu	37	7	88964545	88964545	+	Missense_Mutation	SNP	T	T	C	rs143293437		TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr7:88964545T>C	ENST00000333190.4	+	4	2858	c.2249T>C	c.(2248-2250)gTt>gCt	p.V750A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	750						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CACCACTCAGTTGAAAGGCAC	0.408000										HNSCC(36;0.09)			15	62					0	0	0.002450	0	0
HOMER1	9456	broad.mit.edu	37	5	78697723	78697723	+	Splice_Site	SNP	C	C	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr5:78697723C>T	ENST00000334082.6	-	6	2125	c.684_splice	c.e6+1	p.R228_splice	HOMER1_ENST00000508576.1_Intron|HOMER1_ENST00000535690.1_Splice_Site_p.R54_splice|HOMER1_ENST00000282260.6_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	228					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		TGAAATTACCCGCTTGTGCAG	0.458000													35	128					0	0	0.006230	0	0
INSC	387755	broad.mit.edu	37	11	15134098	15134098	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr11:15134098G>T	ENST00000379554.3	+	1	129	c.83G>T	c.(82-84)aGg>aTg	p.R28M		NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	28					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GAGTCCAGGAGGCTGTGCTGT	0.602000													12	16					6.31663e-08	7.00751e-08	0.003163	1	0
DNA2	1763	broad.mit.edu	37	10	70227879	70227879	+	Splice_Site	SNP	C	C	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr10:70227879C>T	ENST00000399180.2	-	3	699		c.e3+1		DNA2_ENST00000399179.2_Splice_Site|DNA2_ENST00000358410.3_Splice_Site			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2						base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						ctattattTACCCTAAAAGTT	0.373000													7	30					0	0	0.003080	0	0
C1orf131	128061	broad.mit.edu	37	1	231362496	231362496	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr1:231362496C>T	ENST00000318906.2	-	5	710	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	C1orf131_ENST00000366651.3_Missense_Mutation_p.E227K|C1orf131_ENST00000366649.2_Missense_Mutation_p.E228K			Q8NDD1	CA131_HUMAN	chromosome 1 open reading frame 131	228	Lys-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				AGTCTCTTTTCTTCTTCCTTT	0.408000													23	167					0	0	0.002780	0	0
LRCH4	4034	broad.mit.edu	37	7	100174326	100174326	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr7:100174326T>C	ENST00000310300.6	-	14	1595	c.1543A>G	c.(1543-1545)Agt>Ggt	p.S515G	LRCH4_ENST00000497245.1_Missense_Mutation_p.S63G	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	515					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTGAGCCACTCTGAGAGGAG	0.632000													4	4					0	0	0.000602	0	0
AMPD3	272	broad.mit.edu	37	11	10514898	10514898	+	Silent	SNP	G	G	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr11:10514898G>A	ENST00000444303.2	+	6	937	c.465G>A	c.(463-465)gtG>gtA	p.V155V	AMPD3_ENST00000396554.3_Silent_p.V323V	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	314					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGTTCCAGGTGGACACACACA	0.572000													29	130					0	0	0.010818	0	0
COG3	83548	broad.mit.edu	37	13	46054349	46054349	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr13:46054349T>C	ENST00000349995.5	+	4	585	c.473T>C	c.(472-474)tTg>tCg	p.L158S		NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	158					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CTGGAGTCTTTGCAGAAACAG	0.413000													19	56					0	0	0.007413	0	0
PITPNM3	83394	broad.mit.edu	37	17	6380393	6380393	+	Silent	SNP	G	G	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr17:6380393G>A	ENST00000262483.8	-	9	1128	c.1041C>T	c.(1039-1041)acC>acT	p.T347T	ACKR6_ENST00000421306.3_Silent_p.T311T	NM_031220.3	NP_112497.2																					CGCAGTCATAGGTGGAGGAGT	0.587000													26	23					0	0	0.006320	0	0
OR1B1	347169	broad.mit.edu	37	9	125391523	125391523	+	Missense_Mutation	SNP	G	G	A	rs140947515	byFrequency	TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr9:125391523G>A	ENST00000304833.3	-	1	329	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GCCAAGCAGCGGGCAGCAGGA	0.517000													14	24					0	0	0.002450	0	0
RHBDL1	9028	broad.mit.edu	37	16	728016	728016	+	Silent	SNP	C	C	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr16:728016C>T	ENST00000219551.2	+	7	1308	c.1281C>T	c.(1279-1281)taC>taT	p.Y427Y	RHBDL1_ENST00000352681.3_Silent_p.Y362Y			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	427					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				TCTTCGCCTACGACCTGCTGG	0.701000													4	14					0	0	0.009096	0	0
CHORDC1	26973	broad.mit.edu	37	11	89935685	89935685	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr11:89935685G>C	ENST00000529726.1	-	4	4236	c.323C>G	c.(322-324)aCt>aGt	p.T108S	CHORDC1_ENST00000529987.1_Missense_Mutation_p.T108S|CHORDC1_ENST00000320585.6_Missense_Mutation_p.T296S|CHORDC1_ENST00000457199.2_Missense_Mutation_p.T277S			Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	296	Interaction with HSP90AA1 and HSP90AB1 (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				CTTTGTTGCAGTCATAGTTAC	0.383000													27	27					0	0	0.005443	0	0
ISLR2	57611	broad.mit.edu	37	15	74426032	74426032	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr15:74426032C>A	ENST00000361742.3	+	4	1706	c.937C>A	c.(937-939)Caa>Aaa	p.Q313K	ISLR2_ENST00000453268.2_Missense_Mutation_p.Q313K|ISLR2_ENST00000445793.1_Missense_Mutation_p.Q313K|ISLR2_ENST00000565159.1_Missense_Mutation_p.Q313K|ISLR2_ENST00000419208.1_Missense_Mutation_p.Q313K|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565540.1_Missense_Mutation_p.Q313K|ISLR2_ENST00000435464.1_Missense_Mutation_p.Q313K	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	313	Ig-like.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GACGCAGACCCAAGCCCAAAC	0.667000													5	11					1.23904e-05	1.30329e-05	0.000602	1	0
ZNF852	285346	broad.mit.edu	37	3	44541883	44541883	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr3:44541883C>G	ENST00000436261.1	-	4	546	c.386G>C	c.(385-387)aGa>aCa	p.R129T	ZNF852_ENST00000489411.1_5'UTR			B6EU87	B6EU87_HUMAN	zinc finger protein 852	129					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						TTCCTCATATCTGTCTTTTGT	0.378000													3	57					0	0	0.004672	0	0
NKTR	4820	broad.mit.edu	37	3	42680794	42680794	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr3:42680794A>T	ENST00000232978.8	+	13	3786	c.3598A>T	c.(3598-3600)Agc>Tgc	p.S1200C	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1200					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CAGCTCTGCTAGCTTGGCTAG	0.512000													16	46					0	0	0.004990	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724405	38724405	+	Missense_Mutation	SNP	T	T	C	rs140940981	byFrequency	TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr14:38724405T>C	ENST00000342213.2	-	1	1169	c.823A>G	c.(823-825)Acg>Gcg	p.T275A		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	275	EGF-like.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TCGAAGCCCGTAGCACATTCG	0.667000													18	145					0	0	0.004990	0	0
ROCK1	6093	broad.mit.edu	37	18	18549153	18549153	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr18:18549153C>T	ENST00000399799.1	-	24	3777	c.2837G>A	c.(2836-2838)aGc>aAc	p.S946N		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	946	Glu-rich.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					GGTTAGCATGCTGTTTGCTTC	0.343000													20	44					0	0	0.010504	0	0
CA11	770	broad.mit.edu	37	19	49143455	49143455	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr19:49143455G>T	ENST00000084798.4	-	4	1047	c.368C>A	c.(367-369)cCc>cAc	p.P123H	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	123						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		GTAAAGGAGGGGACCTCCAGA	0.617000													21	52					1.10513e-12	1.37657e-12	0.014323	1	0
RAB3GAP2	25782	broad.mit.edu	37	1	220363423	220363423	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr1:220363423G>T	ENST00000358951.2	-	16	1813	c.1697C>A	c.(1696-1698)aCa>aAa	p.T566K		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	566					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GGGAGATTTTGTTTTCAGTAA	0.308000													15	72					5.01169e-05	5.1946e-05	0.004990	1	0
HRSP12	10247	broad.mit.edu	37	8	99120937	99120937	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr8:99120937C>G	ENST00000254878.3	-	2	252	c.108G>C	c.(106-108)caG>caC	p.Q36H		NM_005836.2	NP_005827.1	P52758	UK114_HUMAN	heat-responsive protein 12	36					regulation of translational termination	nucleus	endonuclease activity			large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	6	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			CCATGCCTATCTGTCCTGAAA	0.378000													26	135					0	0	0.003954	0	0
UBXN2B	137886	broad.mit.edu	37	8	59329441	59329441	+	Silent	SNP	G	G	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr8:59329441G>A	ENST00000399598.2	+	2	239	c.117G>A	c.(115-117)gtG>gtA	p.V39V	UBXN2B_ENST00000522978.1_3'UTR	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	39						cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						AAGATGAAGTGAAGTGCAAAT	0.373000													10	71					0	0	0.001855	0	0
OSBPL10	114884	broad.mit.edu	37	3	31710172	31710172	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr3:31710172C>A	ENST00000396556.2	-	10	2180	c.2058G>T	c.(2056-2058)aaG>aaT	p.K686N	OSBPL10_ENST00000438237.2_Missense_Mutation_p.K622N	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	686					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GAGGTCTGATCTTCTTGGGAT	0.512000													22	58					1.96895e-08	2.23672e-08	0.002780	1	0
FGF12	2257	broad.mit.edu	37	3	191888341	191888341	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr3:191888341C>T	ENST00000454309.2	-	4	1344	c.519G>A	c.(517-519)tgG>tgA	p.W173*	FGF12_ENST00000450716.1_Nonsense_Mutation_p.W111*|FGF12_ENST00000445105.1_Nonsense_Mutation_p.W111*|FGF12_ENST00000430714.1_Nonsense_Mutation_p.W74*|FGF12_ENST00000264730.3_Nonsense_Mutation_p.W111*	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	173					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		GTCCCAGAAACCAAGCTCGGC	0.408000													35	152					0	0	0.003755	0	0
OR5H14	403273	broad.mit.edu	37	3	97868653	97868653	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr3:97868653A>T	ENST00000437310.1	+	1	484	c.424A>T	c.(424-426)Atc>Ttc	p.I142F		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGGACTGTGCATCCGGCTATT	0.388000													8	166					0	0	0.008291	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256498	69256498	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr14:69256498C>T	ENST00000439696.2	-	2	1070	c.769G>A	c.(769-771)Gag>Aag	p.E257K	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.E257K	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	257					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E257*(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CTTGCCAGCTCCTGGCTGGAG	0.632000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	102					0	0	0.006122	0	0
MYO18B	84700	broad.mit.edu	37	22	26422575	26422575	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr22:26422575C>A	ENST00000335473.7	+	43	6885	c.6635C>A	c.(6634-6636)gCc>gAc	p.A2212D	MYO18B_ENST00000536101.1_Missense_Mutation_p.A2212D|MYO18B_ENST00000407587.2_Missense_Mutation_p.A2213D	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2212						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAAGTGCTTGCCGTCCAGAGA	0.542000													25	10					7.87624e-14	9.98595e-14	0.002780	1	0
OR1K1	392392	broad.mit.edu	37	9	125563287	125563287	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr9:125563287C>A	ENST00000277309.2	+	1	918	c.886C>A	c.(886-888)Cgc>Agc	p.R296S		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						CCTCTGGAATCGCGATGTACA	0.607000													27	38					2.48779e-11	3.0454e-11	0.005443	1	0
CUEDC1	404093	broad.mit.edu	37	17	55951069	55951069	+	Silent	SNP	C	C	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr17:55951069C>T	ENST00000577830.1	-	4	887	c.474G>A	c.(472-474)gcG>gcA	p.A158A	CUEDC1_ENST00000577840.1_Silent_p.A21A|CUEDC1_ENST00000407144.2_Silent_p.A158A|CUEDC1_ENST00000360238.2_Silent_p.A158A	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	158										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						CAGAGCCCAGCGCGTCGATAC	0.617000													26	39					0	0	0.004656	0	0
MADD	8567	broad.mit.edu	37	11	47345827	47345827	+	Silent	SNP	G	G	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr11:47345827G>A	ENST00000342922.4	+	29	4734	c.4377G>A	c.(4375-4377)ctG>ctA	p.L1459L	MADD_ENST00000311027.5_Silent_p.L1518L|MADD_ENST00000402192.2_Silent_p.L1458L|MADD_ENST00000395344.3_Silent_p.L1412L|MADD_ENST00000395336.3_Silent_p.L1518L|MADD_ENST00000349238.3_Silent_p.L1479L|MADD_ENST00000406482.1_Silent_p.L1416L|MADD_ENST00000402799.1_Silent_p.L1416L|MADD_ENST00000407859.3_Silent_p.L1436L|MADD_ENST00000405573.2_Silent_p.L328L	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1518					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GTCGGGAGCTGTACTACTGTG	0.577000													9	37					0	0	0.010729	0	0
OR8H2	390151	broad.mit.edu	37	11	55872752	55872752	+	Silent	SNP	C	C	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr11:55872752C>T	ENST00000313503.1	+	1	234	c.234C>T	c.(232-234)gtC>gtT	p.V78V		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CAACTGTCGTCACACCTAAAA	0.428000										HNSCC(53;0.14)			106	408					0	0	0.014410	0	0
C16orf89	146556	broad.mit.edu	37	16	5110370	5110370	+	Silent	SNP	G	G	C			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr16:5110370G>C	ENST00000315997.5	-	3	627	c.426C>G	c.(424-426)tcC>tcG	p.S142S	ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000350219.4_Silent_p.S180S|C16orf89_ENST00000472572.3_Silent_p.S142S|C16orf89_ENST00000474471.3_Silent_p.S142S|C16orf89_ENST00000422873.1_Silent_p.S180S	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	142						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						GGTACACCAAGGAGGCATCAG	0.617000													10	35					0	0	0.006214	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68956241	68956241	+	Splice_Site	SNP	C	C	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr4:68956241C>A	ENST00000356291.2	-	3	341	c.282_splice	c.e3+1	p.M94_splice		NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	94	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TTGAGCTTACCATTCTTTCAA	0.299000													27	17					2.12542e-12	2.62443e-12	0.006320	1	0
PTPLB	201562	broad.mit.edu	37	3	123247306	123247306	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr3:123247306G>C	ENST00000383657.5	-	4	465	c.308C>G	c.(307-309)tCt>tGt	p.S103C		NM_198402.3	NP_940684.1	Q6Y1H2	HACD2_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b	103					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein binding			kidney(2)	2				GBM - Glioblastoma multiforme(114;0.1)		CAGGACAACAGAAGATGGAAC	0.308000													14	40					0	0	0.004007	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72057061	72057061	+	Silent	SNP	G	G	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr12:72057061G>A	ENST00000378743.3	-	1	688	c.330C>T	c.(328-330)ttC>ttT	p.F110F	ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000552037.1_Silent_p.F110F|ZFC3H1_ENST00000548100.1_Silent_p.F110F|THAP2_ENST00000308086.2_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	110	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GATGAGACCGGAACGGTTCTT	0.632000													17	122					0	0	0.006122	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184743	130184743	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr12:130184743C>A	ENST00000422113.2	-	2	906	c.580G>T	c.(580-582)Gcc>Tcc	p.A194S		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	194						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCCAGCTCGGCCACGCACAGC	0.706000													12	20					1.08611e-07	1.18636e-07	0.010729	1	0
MTUS1	57509	broad.mit.edu	37	8	17554870	17554870	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr8:17554870T>A	ENST00000297488.6	-	1	309	c.17A>T	c.(16-18)aAa>aTa	p.K6I	MTUS1_ENST00000544260.1_Intron|MTUS1_ENST00000262102.6_Intron|MTUS1_ENST00000519263.1_Intron|MTUS1_ENST00000381869.3_Intron|MTUS1_ENST00000381861.3_Intron	NM_020749.4	NP_065800.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	847						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TAAGGAGAATTTGGGAGACAA	0.448000													34	80					0	0	0.006230	0	0
SALL1	6299	broad.mit.edu	37	16	51176048	51176048	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr16:51176048C>T	ENST00000251020.4	-	2	118	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_5'UTR	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	29					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGACCCTTTTCTGTGTCTCCT	0.458000													37	95					0	0	0.006230	0	0
TOM1L2	146691	broad.mit.edu	37	17	17801988	17801988	+	Splice_Site	SNP	C	C	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr17:17801988C>T	ENST00000581396.1	-	3	234	c.137_splice	c.e3-1	p.G46_splice	TOM1L2_ENST00000542206.1_Splice_Site_p.G46_splice|TOM1L2_ENST00000540946.1_Splice_Site_p.G46_splice|TOM1L2_ENST00000535933.1_Splice_Site_p.G46_splice|TOM1L2_ENST00000395739.4_Splice_Site_p.G46_splice|TOM1L2_ENST00000379504.3_Splice_Site_p.G46_splice|TOM1L2_ENST00000318094.10_Splice_Site_p.G46_splice	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	46	VHS.				intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CATCCTTTGGCCTGGaaaaaa	0.453000													18	63					0	0	0.004990	0	0
BNIP2	663	broad.mit.edu	37	15	59964843	59964843	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr15:59964843G>C	ENST00000267859.3	-	6	1024	c.931C>G	c.(931-933)Ctt>Gtt	p.L311V	BNIP2_ENST00000607373.1_Missense_Mutation_p.L190V|BNIP2_ENST00000415213.2_Missense_Mutation_p.L252V			Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	190					anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	calcium ion binding|GTPase activator activity|protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						TACTTAAAAAGATTGTCCATC	0.303000													16	44					0	0	0.004007	0	0
MYO5C	55930	broad.mit.edu	37	15	52505478	52505478	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr15:52505478C>T	ENST00000261839.7	-	34	4209	c.4048G>A	c.(4048-4050)Gat>Aat	p.D1350N		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1350						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GAGTGCACATCATTGGCTGTA	0.473000													12	32					0	0	0.010729	0	0
OSCAR	126014	broad.mit.edu	37	19	54598591	54598591	+	Silent	SNP	G	G	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr19:54598591G>A	ENST00000358375.4	-	5	732	c.687C>T	c.(685-687)aaC>aaT	p.N229N	OSCAR_ENST00000356532.3_Silent_p.N233N|OSCAR_ENST00000284648.6_3'UTR|OSCAR_ENST00000351806.4_Silent_p.N218N|OSCAR_ENST00000359649.4_3'UTR|OSCAR_ENST00000391761.1_3'UTR	NM_133169.3	NP_573399.1	Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	0			S -> Y (in dbSNP:rs8106130).			extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GGCGGACTAGGTTCCCCCGGG	0.687000													5	5					0	0	0.000602	0	0
EYS	346007	broad.mit.edu	37	6	66063424	66063424	+	Silent	SNP	T	T	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr6:66063424T>A	ENST00000503581.1	-	9	1923	c.1386A>T	c.(1384-1386)ggA>ggT	p.G462G	EYS_ENST00000370616.2_Silent_p.G462G|EYS_ENST00000370618.3_Silent_p.G462G|EYS_ENST00000370621.3_Silent_p.G462G|EYS_ENST00000342421.5_Silent_p.G462G|EYS_ENST00000393380.2_Silent_p.G462G	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	462					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GGAAGGTGACTCCACAGTAGC	0.363000													17	68					0	0	0.004990	0	0
APOB	338	broad.mit.edu	37	2	21228441	21228441	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr2:21228441C>T	ENST00000233242.1	-	26	11426	c.11299G>A	c.(11299-11301)Gaa>Aaa	p.E3767K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3767					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)	ATTTGTATTTCTCTGAAGTCA	0.393000													38	160					0	0	0.004878	0	0
UBE2E2	7325	broad.mit.edu	37	3	23631271	23631271	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr3:23631271A>C	ENST00000396703.1	+	6	735	c.555A>C	c.(553-555)agA>agC	p.R185S	UBE2E2_ENST00000425792.1_Missense_Mutation_p.R185S	NM_152653.3	NP_689866.1	Q96LR5	UB2E2_HUMAN	ubiquitin-conjugating enzyme E2E 2	185					ISG15-protein conjugation|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination	nucleolus	ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2)	10						TGACCAACAGAGCAGAGCATG	0.592000													11	62					0	0	0.013537	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|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 -> 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(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	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	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			9	16					4.68919e-08	5.24303e-08	0.008291	1	0
SRD5A3	79644	broad.mit.edu	37	4	56230251	56230251	+	Silent	SNP	G	G	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr4:56230251G>A	ENST00000264228.4	+	3	603	c.375G>A	c.(373-375)ctG>ctA	p.L125L	SRD5A3_ENST00000514398.1_3'UTR|SRD5A3-AS1_ENST00000433175.2_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	125					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			GAGGGGAGCTGGCACTGTCTG	0.428000													32	95					0	0	0.004289	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118357378	118357378	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr10:118357378G>A	ENST00000528052.1	+	7	684	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.E205K|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.E205K			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	205					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GAGTACTCCTGAAGAGGTGCG	0.488000													23	57					0	0	0.014323	0	0
PLCXD1	55344	broad.mit.edu	37	X	215942	215942	+	Silent	SNP	C	C	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chrX:215942C>T	ENST00000381657.2	+	7	1426	c.912C>T	c.(910-912)atC>atT	p.I304I	PLCXD1_ENST00000381663.3_Silent_p.I304I|PLCXD1_ENST00000399012.1_Silent_p.I304I	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	304					intracellular signal transduction|lipid metabolic process		phospholipase C activity	p.I304I(1)		endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGACTTCATCGGCGCAGACG	0.647000													10	38					0	0	0.008291	0	0
SEPT14	346288	broad.mit.edu	37	7	55910638	55910638	+	Silent	SNP	A	A	G			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr7:55910638A>G	ENST00000388975.3	-	5	671	c.555T>C	c.(553-555)agT>agC	p.S185S		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	185					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AACATACCTTACTGTCAAGGT	0.458000													2	2					0	0	0.004672	0	0
CHD8	57680	broad.mit.edu	37	14	21862131	21862131	+	Silent	SNP	C	C	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr14:21862131C>A	ENST00000399982.2	-	31	5887	c.5823G>T	c.(5821-5823)ggG>ggT	p.G1941G	CHD8_ENST00000557364.1_Silent_p.G1941G|CHD8_ENST00000430710.3_Silent_p.G1662G	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1941					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTTGGCTCACCCCATGGCGGG	0.552000													28	32					1.75199e-13	2.20161e-13	0.007291	1	0
KIAA1244	57221	broad.mit.edu	37	6	138584148	138584148	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr6:138584148G>A	ENST00000251691.4	+	12	1694	c.1528G>A	c.(1528-1530)Gac>Aac	p.D510N		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	510					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGTCACCACAGACACAGGCCA	0.592000													5	3					0	0	0.000602	0	0
WDFY2	115825	broad.mit.edu	37	13	52325503	52325503	+	Silent	SNP	C	C	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr13:52325503C>T	ENST00000298125.5	+	8	963	c.783C>T	c.(781-783)ggC>ggT	p.G261G	WDFY2_ENST00000460145.2_3'UTR	NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	261							metal ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		TCTCCTGTGGCGGTGATGGTG	0.572000													14	61					0	0	0.006122	0	0
FAM69B	138311	broad.mit.edu	37	9	139617467	139617467	+	Silent	SNP	C	C	G			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr9:139617467C>G	ENST00000371691.1	+	3	1375	c.276C>G	c.(274-276)ctC>ctG	p.L92L	SNHG7_ENST00000414282.1_RNA|FAM69B_ENST00000371692.4_Silent_p.L179L			Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	179						endoplasmic reticulum membrane|integral to membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		AGGTCCTGCTCATGGCTGACT	0.607000													11	22					0	0	0.001855	0	0
LPPR3	79948	broad.mit.edu	37	19	813107	813107	+	Silent	SNP	G	G	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr19:813107G>A	ENST00000359894.2	-	7	1767	c.1704C>T	c.(1702-1704)atC>atT	p.I568I	LPPR3_ENST00000520876.3_Silent_p.I540I	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN		540						integral to membrane	phosphatidate phosphatase activity										TGGACATGGCGATGACCTGCA	0.731000													5	4					0	0	0.001168	0	0
RTEL1	51750	broad.mit.edu	37	20	62317196	62317196	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr20:62317196C>T	ENST00000318100.4	+	16	2146	c.1319C>T	c.(1318-1320)gCc>gTc	p.A440V	RTEL1_ENST00000370018.3_Missense_Mutation_p.A440V|RTEL1_ENST00000508582.2_Missense_Mutation_p.A464V|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A440V|RTEL1_ENST00000360203.5_Missense_Mutation_p.A440V			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	440					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CGGTCTGATGCCTGGAGCACC	0.682000													6	24					0	0	0.003080	0	0
SDK1	221935	broad.mit.edu	37	7	4247749	4247749	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr7:4247749G>C	ENST00000404826.2	+	37	5372	c.5233G>C	c.(5233-5235)Gac>Cac	p.D1745H	SDK1_ENST00000389531.3_Missense_Mutation_p.D1725H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1745	Fibronectin type-III 11.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTGGGAGGCAGACAGCCAGAA	0.557000													9	64					0	0	0.010729	0	0
COL21A1	81578	broad.mit.edu	37	6	55926451	55926451	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr6:55926451C>A	ENST00000244728.5	-	25	2598	c.2201G>T	c.(2200-2202)gGa>gTa	p.G734V	COL21A1_ENST00000535941.1_Missense_Mutation_p.G734V|COL21A1_ENST00000370808.2_Missense_Mutation_p.G134V|COL21A1_ENST00000370819.1_Missense_Mutation_p.G731V|COL21A1_ENST00000467045.1_5'UTR	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	734	Collagen-like 5.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACATACCTCTCCTTTTGCACC	0.338000													3	15					0.000602214	0.000615212	0.000602	1	0
RYR1	6261	broad.mit.edu	37	19	38951198	38951198	+	Silent	SNP	C	C	T	rs140374285	byFrequency	TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr19:38951198C>T	ENST00000355481.4	+	20	2675	c.2544C>T	c.(2542-2544)acC>acT	p.T848T	RYR1_ENST00000360985.3_Silent_p.T848T|RYR1_ENST00000359596.3_Silent_p.T848T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	848	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCTCACACACCGACTTCGTGC	0.642000													20	46					0	0	0.002780	0	0
MYO18B	84700	broad.mit.edu	37	22	26422576	26422576	+	Silent	SNP	C	C	T			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr22:26422576C>T	ENST00000335473.7	+	43	6886	c.6636C>T	c.(6634-6636)gcC>gcT	p.A2212A	MYO18B_ENST00000536101.1_Silent_p.A2212A|MYO18B_ENST00000407587.2_Silent_p.A2213A	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2212						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AAGTGCTTGCCGTCCAGAGAA	0.547000													26	10					0	0	0.003330	0	0
ARID1A	8289	broad.mit.edu	37	1	27092806	27092806	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr1:27092806C>A	ENST00000324856.7	+	9	3198	c.2827C>A	c.(2827-2829)Cct>Act	p.P943T	ARID1A_ENST00000457599.2_Missense_Mutation_p.P943T|ARID1A_ENST00000374152.2_Missense_Mutation_p.P560T	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	943					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATGATCAACCCTCAGGGACC	0.498000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								29	68					1.12875e-08	1.2926e-08	0.006320	1	0
NOS3	4846	broad.mit.edu	37	7	150695764	150695764	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr7:150695764C>G	ENST00000297494.3	+	7	1169	c.812C>G	c.(811-813)aCc>aGc	p.T271S	NOS3_ENST00000484524.1_Missense_Mutation_p.T271S|NOS3_ENST00000467517.1_Missense_Mutation_p.T271S|NOS3_ENST00000461406.1_Missense_Mutation_p.T65S	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	271	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GTGGAGATCACCGAGGTGGGC	0.652000													3	5					0	0	0.004672	0	0
COCH	1690	broad.mit.edu	37	14	31344261	31344261	+	Splice_Site	SNP	G	G	C			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr14:31344261G>C	ENST00000396618.3	+	3	90		c.e3-1		COCH_ENST00000475087.1_Splice_Site|COCH_ENST00000460581.2_5'UTR|COCH_ENST00000216361.4_Splice_Site	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin						sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TCTCTTCGCAGGTGTGTGTCT	0.741000													6	12					0	0	0.001168	0	0
SIAH2	6478	broad.mit.edu	37	3	150459956	150459956	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr3:150459956T>C	ENST00000312960.3	-	2	1474	c.947A>G	c.(946-948)aAt>aGt	p.N316S		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	316	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AATAGTAACATTGATTCCAAG	0.388000													18	54					0	0	0.008871	0	0
RYR3	6263	broad.mit.edu	37	15	34137093	34137093	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr15:34137093G>A	ENST00000389232.4	+	93	13397	c.13327G>A	c.(13327-13329)Gag>Aag	p.E4443K	RYR3_ENST00000415757.3_Missense_Mutation_p.E4438K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4443					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGAAGAGACAGAGGATGTTGC	0.443000													6	26					0	0	0.001984	0	0
PDIA5	10954	broad.mit.edu	37	3	122865026	122865026	+	Silent	SNP	G	G	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr3:122865026G>A	ENST00000316218.7	+	13	1157	c.1062G>A	c.(1060-1062)acG>acA	p.T354T	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	354	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		AGTTTCCTACGTTGAAGTATT	0.478000													46	117					0	0	0.010771	0	0
HEG1	57493	broad.mit.edu	37	3	124731518	124731519	+	Frame_Shift_Ins	INS	-	-	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr3:124731518_124731519insA	ENST00000311127.4	-	6	2971_2972	c.2904_2905insT	c.(2902-2907)ttctgtfs	p.C969fs		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	969						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CTCTGAACAGCAAAGGTGGCAG	0.525													17	16	---	---	---	---					
PTTG2	10744	broad.mit.edu	37	4	37962391	37962402	+	In_Frame_Del	DEL	AGAAATAGAAAA	AGAAATAGAAAA	-			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr4:37962391_37962402delAGAAATAGAAAA	ENST00000504686.1	+	1	336_347	c.336_347delAGAAATAGAAAA	c.(334-348)cca>cc	p.PEIEK112del	TBC1D1_ENST00000261439.4_Intron|TBC1D1_ENST00000508802.1_Intron	NM_006607.2	NP_006598.2	Q9NZH5	PTTG2_HUMAN	pituitary tumor-transforming 2	112					chromosome organization|DNA metabolic process	cytoplasm|nucleus	SH3 domain binding			breast(1)|endometrium(1)|lung(4)|skin(1)	7						ACGCCTATCCAGAAATAGAAAAATTCTTTCCC	0.439													31	156	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141052424	141052424	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr5:141052424delG	ENST00000239440.4	-	8	1227	c.1162delC	c.(1162-1164)ggfs	p.R388fs	ARAP3_ENST00000513878.1_Frame_Shift_Del_p.R50fs|ARAP3_ENST00000508305.1_Frame_Shift_Del_p.R310fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	388					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGGGGGGGCCGGGGGTGGCCC	0.672													2	4	---	---	---	---					
EYA1	2138	broad.mit.edu	37	8	72234058	72234067	+	Frame_Shift_Del	DEL	CCATATGCAG	CCATATGCAG	-	rs112282055	byFrequency	TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr8:72234058_72234067delCCATATGCAG	ENST00000340726.3	-	6	959_968	c.320_329delCTGCATATGG	c.(319-330)ggfs	p.AAYG107fs	EYA1_ENST00000388743.2_Frame_Shift_Del_p.AAYG106fs|EYA1_ENST00000419131.1_Frame_Shift_Del_p.AAYG107fs|EYA1_ENST00000388740.3_Frame_Shift_Del_p.AAYG74fs|EYA1_ENST00000388742.4_Frame_Shift_Del_p.AAYG107fs|EYA1_ENST00000303824.7_Frame_Shift_Del_p.AAYG106fs|EYA1_ENST00000388741.2_Frame_Shift_Del_p.AAYG73fs	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	107					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CTGTGTTTGCCCATATGCAGCCATAGTTTG	0.462													11	114	---	---	---	---					
FASN	2194	broad.mit.edu	37	17	80042538	80042539	+	Frame_Shift_Ins	INS	-	-	C			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr17:80042538_80042539insC	ENST00000306749.2	-	27	4836_4837	c.4618_4619insG	c.(4618-4620)cctfs	p.P1540fs		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1540					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGAGGACAGGTCCCCCCGGGTG	0.673													2	4	---	---	---	---					
STK11	6794	broad.mit.edu	37	19	1223056	1223069	+	Frame_Shift_Del	DEL	GTGGCGCAGCATGA	GTGGCGCAGCATGA	-	rs121913325		TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chr19:1223056_1223069delGTGGCGCAGCATGA	ENST00000326873.7	+	8	2166_2179	c.993_1006delGTGGCGCAGCATGA	c.(991-1008)cgctfs	p.RWRSMT331fs		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	331					anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.W332*(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		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)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAAGGACCGGTGGCGCAGCATGACTGTGGTGCC	0.617	W332*(NCIH23_LUNG)	14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			12	3	---	---	---	---					
XIST	7503	broad.mit.edu	37	X	73071845	73071846	+	RNA	INS	-	-	A			TCGA-78-7167-01A-11D-2063-08	TCGA-78-7167-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47f8509a-3dd2-4750-b291-035218152168	3ca799b9-0f69-41aa-a0b5-e9ee6a1ec7da	g.chrX:73071845_73071846insA	ENST00000429829.1	-	0	742_743					NR_001564.2																						GATGGGCGATGAAAAAAAAAAA	0.411													4	8	---	---	---	---