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
FRG1B	0	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													7	154					0	0	1	0	0
PANX2	56666	broad.mit.edu	37	22	50609371	50609371	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr22:50609371C>G	ENST00000395842.2	+	1	212	c.212C>G	c.(211-213)aCc>aGc	p.T71S	PANX2_ENST00000159647.5_Missense_Mutation_p.T71S	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	71					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CTGGTCTTCACCAAGAACTTC	0.731000													3	10					0	0	1	0	0
PLBD2	196463	broad.mit.edu	37	12	113824843	113824843	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:113824843G>T	ENST00000280800.3	+	10	1419	c.1388G>T	c.(1387-1389)cGg>cTg	p.R463L	PLBD2_ENST00000545182.2_Missense_Mutation_p.R431L	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	463					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CAGATCTTCCGGCGGAACCAG	0.602000													14	158					3.41278e-10	3.4797e-10	1	1	0
RP11-248G5.8	0	broad.mit.edu	37	13	52864030	52864030	+	RNA	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:52864030C>T	ENST00000451298.1	-	0	139				RP11-64P12.8_ENST00000606031.1_RNA																							GAATGATACTCCAAAGGAATA	0.313000													9	19					0	0	1	0	0
HEBP1	50865	broad.mit.edu	37	12	13128274	13128274	+	Missense_Mutation	SNP	G	G	A	rs76698360	by1000genomes	TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:13128274G>A	ENST00000014930.4	-	4	696	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|HEBP1_ENST00000540916.1_5'UTR|RP11-392P7.6_ENST00000543515.2_RNA	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	180					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TCATTGCGCCGTCCGTAGGGC	0.587000													35	119					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33591133	33591133	+	Silent	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:33591133G>C	ENST00000380099.3	+	1	563	c.555G>C	c.(553-555)gtG>gtC	p.V185V	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	185	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AGCTGGGCGTGCAGCCCGTGG	0.736000													8	6					0	0	1	0	0
IFNAR1	3454	broad.mit.edu	37	21	34713352	34713352	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr21:34713352C>G	ENST00000270139.3	+	3	400	c.248C>G	c.(247-249)aCt>aGt	p.T83S	IFNAR1_ENST00000442357.2_Missense_Mutation_p.T83S|IFNAR1_ENST00000416947.2_Missense_Mutation_p.T14S	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	83					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CAGAATATTACTAGTACCAAA	0.308000													3	28					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2138115	2138115	+	Missense_Mutation	SNP	C	C	G	rs137854136		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:2138115C>G	ENST00000219476.3	+	40	5765	c.5135C>G	c.(5134-5136)gCc>gGc	p.A1712G	TSC2_ENST00000439673.2_Missense_Mutation_p.A1609G|TSC2_ENST00000382538.6_Missense_Mutation_p.A1597G|TSC2_ENST00000401874.2_Missense_Mutation_p.A1645G|TSC2_ENST00000350773.4_Missense_Mutation_p.A1689G|TSC2_ENST00000353929.4_Missense_Mutation_p.A1669G|TSC2_ENST00000568454.1_Missense_Mutation_p.A1656G	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1712	Rap-GAP.		A -> E (in TSC2).		cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCCTTCGTGGCCCGCCAGATG	0.662000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				71	107					0	0	1	0	0
GIGYF1	64599	broad.mit.edu	37	7	100281867	100281867	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:100281867C>G	ENST00000275732.5	-	14	2932	c.1723G>C	c.(1723-1725)Gtc>Ctc	p.V575L		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	575	Gln-rich.									central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TACCTGCTGACCAGCTGGAGA	0.657000													25	18					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39852993	39852993	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:39852993G>C	ENST00000564288.1	+	58	15256	c.14479G>C	c.(14479-14481)Gag>Cag	p.E4827Q	MACF1_ENST00000317713.7_Missense_Mutation_p.E2765Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E4864Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E2765Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E2765Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E2744Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E3267Q|MACF1_ENST00000372915.3_Missense_Mutation_p.E4832Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4832					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCAAAATTGGAGCGGCTACA	0.453000													88	175					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31582671	31582671	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr14:31582671G>C	ENST00000399332.1	-	33	6364	c.5876C>G	c.(5875-5877)aCa>aGa	p.T1959R	HECTD1_ENST00000553700.1_Missense_Mutation_p.T1959R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1959					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CCCAGACTTTGTTCCATGCTC	0.358000													4	199					0	0	1	0	0
TMTC2	160335	broad.mit.edu	37	12	83289967	83289967	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:83289967T>C	ENST00000549919.1	+	4	2812	c.1007T>C	c.(1006-1008)gTa>gCa	p.V336A	TMTC2_ENST00000321196.3_Missense_Mutation_p.V342A|TMTC2_ENST00000548305.1_Missense_Mutation_p.V342A			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	342						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GGGAAAACTGTAACAAATGGC	0.448000													6	141					0	0	1	0	0
NADK	65220	broad.mit.edu	37	1	1686109	1686109	+	Silent	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:1686109C>T	ENST00000344463.4	-	10	1373	c.1152G>A	c.(1150-1152)cgG>cgA	p.R384R	NADK_ENST00000341991.3_Silent_p.R239R|NADK_ENST00000378625.1_Silent_p.R384R|NADK_ENST00000341426.5_Silent_p.R239R|NADK_ENST00000342348.5_Silent_p.R207R			O95544	NADK_HUMAN	NAD kinase	239					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TGACCTTCAGCCGACTCCGGA	0.647000													5	229					0	0	1	0	0
CD151	977	broad.mit.edu	37	11	837606	837606	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:837606C>G	ENST00000397420.3	+	7	852	c.603C>G	c.(601-603)atC>atG	p.I201M	CD151_ENST00000397421.1_Missense_Mutation_p.I201M|CD151_ENST00000528011.1_Missense_Mutation_p.I201M|CD151_ENST00000322008.4_Missense_Mutation_p.I201M			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	201					cell adhesion|hemidesmosome assembly	cytosol|integral to plasma membrane|membrane fraction	protein binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTCCAACATCTACAAGGTGG	0.642000													5	66					0	0	1	0	0
NAA40	79829	broad.mit.edu	37	11	63721927	63721927	+	Silent	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:63721927G>C	ENST00000377793.4	+	8	791	c.690G>C	c.(688-690)ggG>ggC	p.G230G	NAA40_ENST00000456907.2_Silent_p.G190G|NAA40_ENST00000542163.1_Silent_p.G209G|NAA40_ENST00000539656.1_Silent_p.G117G	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	230							N-acetyltransferase activity			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						ACGCGGGTGGGCACTGTGGTG	0.582000													12	73					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77407234	77407234	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:77407234G>C	ENST00000560626.2	-	7	4980	c.4505C>G	c.(4504-4506)tCt>tGt	p.S1502C	PEAK1_ENST00000312493.4_Missense_Mutation_p.S1502C			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1502	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										CTCAAGACCAGAGCATAGCTG	0.542000													35	48					0	0	1	0	0
KIAA1161	57462	broad.mit.edu	37	9	34372002	34372002	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr9:34372002G>A	ENST00000297625.7	-	2	1063	c.838C>T	c.(838-840)Cga>Tga	p.R280*		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	314					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		ATGGGGTCTCGGAAGGCCTCG	0.612000													8	53					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	T	G	rs10796418	by1000genomes	TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112																											AGCAATCTCCTCACTCAGCTG	0.672000													4	46					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99098434	99098434	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:99098434G>C	ENST00000376586.2	+	26	3308	c.2972G>C	c.(2971-2973)tGc>tCc	p.C991S	FARP1_ENST00000595437.1_Missense_Mutation_p.C991S|FARP1_ENST00000319562.6_Missense_Mutation_p.C960S			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	960	PH 2.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ACAAACTTCTGCCTGTTCTTC	0.562000											OREG0022474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	61					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111786107	111786107	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:111786107A>T	ENST00000261726.6	+	22	4593	c.4439A>T	c.(4438-4440)gAg>gTg	p.E1480V		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1480						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AATCGGGAGGAGGCCCTGGAG	0.572000													5	186					0	0	1	0	0
HOXB5	3215	broad.mit.edu	37	17	46669799	46669799	+	Silent	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:46669799C>G	ENST00000239151.5	-	2	860	c.582G>C	c.(580-582)ggG>ggC	p.G194G	HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000552000.2_Intron	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	194						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						GGGCCCTTTTCCCGTCCGGCC	0.632000													40	47					0	0	1	0	0
C9orf24	84688	broad.mit.edu	37	9	34381050	34381050	+	Silent	SNP	G	G	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr9:34381050G>A	ENST00000297623.2	-	5	750	c.552C>T	c.(550-552)tgC>tgT	p.C184C	C9orf24_ENST00000379127.1_Silent_p.C49C|C9orf24_ENST00000379126.3_Intron|C9orf24_ENST00000379124.1_Silent_p.C49C|C9orf24_ENST00000379133.3_Silent_p.C49C	NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	chromosome 9 open reading frame 24	184										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		GCGGGTCCACGCACCCGCATC	0.677000													3	23					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67111542	67111542	+	Silent	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:67111542A>G	ENST00000284425.2	-	12	1755	c.1581T>C	c.(1579-1581)ctT>ctC	p.L527L		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	527	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACAATCCATTAAGAATATTTA	0.368000													40	65					0	0	1	0	0
C16orf11	146325	broad.mit.edu	37	16	615104	615104	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:615104G>C	ENST00000409413.3	+	3	1792	c.1513G>C	c.(1513-1515)Ggc>Cgc	p.G505R		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	505										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CGGCATGCTGGGCCCTGCAGC	0.741000													22	31					0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242815408	242815408	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:242815408C>G	ENST00000343216.3	+	2	1729	c.1701C>G	c.(1699-1701)atC>atG	p.I567M		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	567						integral to membrane											ACCCCGGGATCTACCCGCAGC	0.647000													12	267					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79589994	79589994	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:79589994T>A	ENST00000372391.2	-	11	1995	c.1990A>T	c.(1990-1992)Att>Ttt	p.I664F	DLG5_ENST00000372388.2_Missense_Mutation_p.I664F	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	664	PDZ 1.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCATCAGCAATGCTTCCTTTG	0.542000													32	76					0	0	1	0	0
TAS2R4	50832	broad.mit.edu	37	7	141478741	141478741	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:141478741C>G	ENST00000247881.2	+	1	500	c.453C>G	c.(451-453)agC>agG	p.S151R	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	151					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TCACGCTTAGCCAGGCATCAC	0.468000													7	342					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370340	240370340	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:240370340C>T	ENST00000319653.9	+	5	2458	c.2228C>T	c.(2227-2229)tCg>tTg	p.S743L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	743					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAGGCGAAATCGATACAGACT	0.572000													13	30					0	0	1	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26032175	26032175	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:26032175C>G	ENST00000244661.2	-	1	113	c.114G>C	c.(112-114)aaG>aaC	p.K38N		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	38					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						AACGGTGAGGCTTTTTCACGC	0.642000													7	240					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33529816	33529816	+	Silent	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:33529816A>G	ENST00000228567.3	-	7	1817	c.1521T>C	c.(1519-1521)agT>agC	p.S507S	SYT10_ENST00000535526.1_Silent_p.S326S	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	507						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GACTATCAAAACTGGTCGCCC	0.413000													35	61					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Silent	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:62839353A>G	ENST00000536311.1	+	7	1168	c.804A>G	c.(802-804)gaA>gaG	p.E268E	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E268E			Q01538	MYT1_HUMAN	myelin transcription factor 1	268	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E268E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572000													3	33					0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99359851	99359851	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:99359851G>C	ENST00000354593.2	-	6	719	c.616C>G	c.(616-618)Ctt>Gtt	p.L206V	CYP3A4_ENST00000336411.2_Missense_Mutation_p.L356V			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	356					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	ACCATGTCAAGATACTCCATC	0.398000													5	86					0	0	1	0	0
PTGDR2	11251	broad.mit.edu	37	11	60620596	60620596	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:60620596G>C	ENST00000332539.4	-	2	711	c.600C>G	c.(598-600)aaC>aaG	p.N200K		NM_004778.2	NP_004769.2	Q9Y5Y4	GPR44_HUMAN	prostaglandin D2 receptor 2	200					immune response	integral to plasma membrane	N-formyl peptide receptor activity										CCTGCCGCGAGTTGCACGTGG	0.667000													6	21					0	0	1	0	0
GPRC5C	0	broad.mit.edu	37	17	72443103	72443103	+	Missense_Mutation	SNP	C	C	T	rs144073326		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:72443103C>T	ENST00000392627.1	+	4	2523	c.1397C>T	c.(1396-1398)gCg>gTg	p.A466V	GPRC5C_ENST00000392629.2_Missense_Mutation_p.A433V|GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000342648.5_Missense_Mutation_p.A106V|GPRC5C_ENST00000481232.1_3'UTR	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	421						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						AGCCACCAGGCGGCCACACCG	0.637000													12	179					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47383224	47383224	+	Silent	SNP	T	T	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:47383224T>G	ENST00000285039.7	-	30	4280	c.3981A>C	c.(3979-3981)ggA>ggC	p.G1327G	MYO5B_ENST00000324581.6_Intron	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1327					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGCCGAGTTCTCCATCTTCAT	0.488000													23	35					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577144	7577144	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:7577144A>G	ENST00000420246.2	-	8	926	c.794T>C	c.(793-795)cTg>cCg	p.L265P	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.L265P|TP53_ENST00000359597.4_Missense_Mutation_p.L265P|TP53_ENST00000269305.4_Missense_Mutation_p.L265P|TP53_ENST00000445888.2_Missense_Mutation_p.L265P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	265	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.L265P(15)|p.0?(8)|p.L265R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.N263fs*5(1)|p.L265del(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.L265Q(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTTCCGTCCCAGTAGATTACC	0.522000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			27	4					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48628163	48628163	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:48628163C>T	ENST00000328333.8	-	13	1830	c.1723G>A	c.(1723-1725)Gtg>Atg	p.V575M	COL7A1_ENST00000454817.1_Missense_Mutation_p.V575M	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	575	Fibronectin type-III 4.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGAGCAGACACCCGCACAGTG	0.612000													28	99					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145149966	145149966	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:145149966G>C	ENST00000367545.3	+	68	9640	c.9640G>C	c.(9640-9642)Gat>Cat	p.D3214H	UTRN_ENST00000367526.4_Missense_Mutation_p.D769H	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3214					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTTTCTCACTGATAGCAGCTC	0.423000													5	28					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76753213	76753213	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:76753213G>C	ENST00000536229.3	+	1	1532	c.823G>C	c.(823-825)Gag>Cag	p.E275Q	SALL3_ENST00000537592.2_Missense_Mutation_p.E408Q|SALL3_ENST00000575389.2_Missense_Mutation_p.E408Q			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GTCGGTGTTCGAGCCCAAAGC	0.657000													9	20					0	0	1	0	0
GCOM1	0	broad.mit.edu	37	15	57976627	57976627	+	Silent	SNP	G	G	C	rs148332683		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:57976627G>C	ENST00000574161.1	+	13	1451	c.1332G>C	c.(1330-1332)gtG>gtC	p.V444V	GCOM1_ENST00000396180.1_Silent_p.V413V|GCOM1_ENST00000380560.2_Silent_p.V375V|GCOM1_ENST00000380561.2_Intron|POLR2M_ENST00000380563.2_5'UTR|MYZAP_ENST00000267853.5_Silent_p.V444V|GCOM1_ENST00000484300.1_3'UTR|GCOM1_ENST00000587652.1_Intron|MYZAP_ENST00000380565.4_Silent_p.V416V|GCOM1_ENST00000380568.3_Intron|GCOM1_ENST00000380569.2_Intron|GCOM1_ENST00000572390.1_Silent_p.V416V	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		444					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GTGAAATTGTGATGCCTTCTA	0.433000													4	164					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47887262	47887262	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:47887262C>G	ENST00000396105.1	-	3	1333	c.1087G>C	c.(1087-1089)Gac>Cac	p.D363H	ZNFX1_ENST00000371754.4_Missense_Mutation_p.D363H|ZNFX1_ENST00000371752.1_Missense_Mutation_p.D363H	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	363							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCAGTGCTGTCGTATTTTCCA	0.473000													10	166					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034681	52034681	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:52034681G>T	ENST00000346477.3	-	2	228	c.160C>A	c.(160-162)Ccc>Acc	p.P54T	SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P54T|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P54T|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P54T|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P54T	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	54	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGGGTAGTGGGCAATCTGCAG	0.597000													32	27					3.99451e-17	4.12678e-17	1	1	0
BRD1	23774	broad.mit.edu	37	22	50217117	50217117	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr22:50217117C>G	ENST00000216267.8	-	1	1335	c.849G>C	c.(847-849)aaG>aaC	p.K283N	BRD1_ENST00000404034.1_Missense_Mutation_p.K283N|BRD1_ENST00000457780.2_Missense_Mutation_p.K283N|BRD1_ENST00000404760.1_Missense_Mutation_p.K283N	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	283					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGTCATCTGTCTTTTTGAAGG	0.647000													8	108					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1079603	1079603	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:1079603C>G	ENST00000264930.5	-	10	1349	c.1306G>C	c.(1306-1308)Gcg>Ccg	p.A436P		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	436					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TTTGAACCCGCCATGATACCT	0.557000													3	63					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145149992	145149992	+	Splice_Site	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:145149992G>C	ENST00000367545.3	+	68	9665		c.e68+1		UTRN_ENST00000367526.4_Splice_Site	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin						muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAGGAAGTGTGTAAGTAAATC	0.423000													3	25					0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144060770	144060770	+	Silent	SNP	T	T	C	rs141931104	by1000genomes	TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:144060770T>C	ENST00000056217.5	+	2	1182	c.1008T>C	c.(1006-1008)aaT>aaC	p.N336N		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	336					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	p.N336N(5)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CAGAAGAGAATAGGGCGGACT	0.512000													4	293					0	0	1	0	0
PLBD2	196463	broad.mit.edu	37	12	113824842	113824842	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:113824842C>T	ENST00000280800.3	+	10	1418	c.1387C>T	c.(1387-1389)Cgg>Tgg	p.R463W	PLBD2_ENST00000545182.2_Missense_Mutation_p.R431W	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	463					lipid catabolic process	lysosomal lumen	hydrolase activity	p.R463R(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCAGATCTTCCGGCGGAACCA	0.607000													14	161					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908169	103908169	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:103908169G>C	ENST00000302259.3	+	1	862	c.619G>C	c.(619-621)Gat>Cat	p.D207H	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	207					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CGACCCACTGGATCGGGAAGC	0.502000													64	94					0	0	1	0	0
PCDHA10	0	broad.mit.edu	37	5	140237506	140237506	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:140237506C>G	ENST00000307360.5	+	1	1873	c.1873C>G	c.(1873-1875)Ctg>Gtg	p.L625V	PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCGTGGGGCTGTACACGGG	0.632000													13	49					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33564683	33564683	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:33564683C>G	ENST00000321505.4	+	1	863	c.683C>G	c.(682-684)aCt>aGt	p.T228S	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T228S|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T228S					KIAA1549-like																		GAAATGCCCACTCTTCCAGCA	0.522000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	108					0	0	1	0	0
KBTBD11	9920	broad.mit.edu	37	8	1950795	1950795	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr8:1950795G>C	ENST00000320248.3	+	2	2403	c.1437G>C	c.(1435-1437)gaG>gaC	p.E479D		NM_014867.2	NP_055682.1	O94819	KBTBB_HUMAN	kelch repeat and BTB (POZ) domain containing 11	479										lung(1)|pancreas(1)	2		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.72e-05)|READ - Rectum adenocarcinoma(644;0.0929)|COAD - Colon adenocarcinoma(149;0.134)		GGCGCGACGAGTGGCAGGAGT	0.687000													6	6					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								23	33					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1265832	1265832	+	Silent	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:1265832C>G	ENST00000447027.1	+	31	7789	c.7731C>G	c.(7729-7731)gtC>gtG	p.V2577V	MUC5B_ENST00000529681.1_Silent_p.V2574V|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2574	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGAGACTGTCCACACCTCCA	0.652000													77	204					0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138739058	138739058	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:138739058G>C	ENST00000329447.5	-	1	710	c.446C>G	c.(445-447)gCc>gGc	p.A149G	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	149										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCCTGGGCGGCGATCTCTGG	0.662000													6	93					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144895232	144895232	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr8:144895232G>C	ENST00000356994.2	-	7	616	c.610C>G	c.(610-612)Ctt>Gtt	p.L204V	SCRIB_ENST00000377533.3_Missense_Mutation_p.L123V|SCRIB_ENST00000320476.3_Missense_Mutation_p.L204V	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	204	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TTCCGGTCAAGCCACAGCTCC	0.627000													5	14					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70144065	70144065	+	Splice_Site	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:70144065A>G	ENST00000370958.1	+	2	194	c.2_splice	c.e2-1	p.M2_splice	LRRC7_ENST00000310961.5_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	0						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTCTTATAGGATGGAGAACCT	0.393000													7	3					0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54128608	54128608	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:54128608G>A	ENST00000404125.1	-	28	3219	c.3164C>T	c.(3163-3165)gCg>gTg	p.A1055V	PSME4_ENST00000421748.2_Missense_Mutation_p.A199V	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1055					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGAAACAATCGCTGGCCACGT	0.443000													8	114					0	0	1	0	0
PTPMT1	114971	broad.mit.edu	37	11	47587461	47587461	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:47587461G>C	ENST00000534775.1	+	1	452	c.287G>C	c.(286-288)gGt>gCt	p.G96A	PTPMT1_ENST00000527079.2_3'UTR|PTPMT1_ENST00000426530.2_Missense_Mutation_p.G96A|NDUFS3_ENST00000533507.1_3'UTR|PTPMT1_ENST00000326656.8_Missense_Mutation_p.V60L|PTPMT1_ENST00000326674.9_Missense_Mutation_p.V60L			Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	0					inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						TCGGCAGCTGGTACAGGACGA	0.682000													3	59					0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102891386	102891386	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr14:102891386C>T	ENST00000359520.7	+	6	935	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W	TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Missense_Mutation_p.R237W	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	237							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GTATGCGTCACGGCCCGGGCT	0.448000													5	68					0	0	1	0	0
PDCD7	10081	broad.mit.edu	37	15	65425278	65425278	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:65425278C>G	ENST00000204549.4	-	1	896	c.842G>C	c.(841-843)tGt>tCt	p.C281S		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	281					apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						CTCCTGCACACACTTCACCCT	0.667000													4	75					0	0	1	0	0
LRRC2	79442	broad.mit.edu	37	3	46574300	46574300	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:46574300C>A	ENST00000395905.3	-	5	982	c.590G>T	c.(589-591)tGt>tTt	p.C197F	LRRC2_ENST00000296144.3_Missense_Mutation_p.C197F	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	197										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		ATTTCCAGAACAATCCAGTCT	0.368000													5	94					3.59834e-05	3.64507e-05	1	1	0
AC005609.1	0	broad.mit.edu	37	5	140242564	140242564	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:140242564G>C	ENST00000502505.1	-	1	660	c.412C>G	c.(412-414)Cca>Gca	p.P138A	PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron																							CCACTTGGTGGCGAAGGTGCG	0.642000													7	17					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100551833	100551833	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:100551833C>A	ENST00000319509.7	+	1	584	c.584C>A	c.(583-585)aCt>aAt	p.T195N						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CTTCAAACAACTCCTTCTACT	0.438000													17	488					8.60227e-14	8.82865e-14	1	1	0
ADCY1	107	broad.mit.edu	37	7	45699747	45699747	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:45699747G>A	ENST00000297323.7	+	7	1436	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	ADCY1_ENST00000432715.1_Missense_Mutation_p.E247K	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	472					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TCATAACATCGAAACCTTTTT	0.483000													17	48					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1652144	1652144	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:1652144G>C	ENST00000252804.4	-	17	3458	c.3408C>G	c.(3406-3408)aaC>aaG	p.N1136K		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1136					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGAGCTCCGTGTTCAGCAGCT	0.652000													21	71					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179615597	179615597	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:179615597C>G	ENST00000360870.5	-	46	11752	c.11530G>C	c.(11530-11532)Gcc>Ccc	p.A3844P	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9679							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAGTATTGGCCATAATTTCT	0.373000													24	70					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38091702	38091702	+	Silent	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr4:38091702C>T	ENST00000261439.4	+	13	2555	c.2200C>T	c.(2200-2202)Ctg>Ttg	p.L734L	TBC1D1_ENST00000508802.1_Silent_p.L828L	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	734						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						ACAGATACTGCTGCTTAGAAT	0.468000													6	130					0	0	1	0	0
GHITM	27069	broad.mit.edu	37	10	85901358	85901358	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:85901358G>C	ENST00000372134.3	+	2	295	c.102G>C	c.(100-102)aaG>aaC	p.K34N		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	34					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						CCATCACGAAGAATCAATGGC	0.448000													33	77					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17629745	17629745	+	Silent	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:17629745C>T	ENST00000262077.2	-	18	2684	c.2685G>A	c.(2683-2685)tcG>tcA	p.S895S	NUP153_ENST00000537253.1_Silent_p.S926S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	895					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTGCTGAGTTCGAAGATGAGG	0.388000													32	40					0	0	1	0	0
NKX2-2	4821	broad.mit.edu	37	20	21492707	21492707	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:21492707C>T	ENST00000377142.4	-	2	1032	c.676G>A	c.(676-678)Gcc>Acc	p.A226T	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	226					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGGAAGGTGGCGGCTGCCAGG	0.677000													4	109					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7526162	7526162	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:7526162C>T	ENST00000313599.3	-	14	3541	c.3484G>A	c.(3484-3486)Ggg>Agg	p.G1162R	CD163L1_ENST00000416109.2_Missense_Mutation_p.G1172R|CD163L1_ENST00000396630.1_Missense_Mutation_p.G1162R			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1162	SRCR 11.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCAGGTCCCGTTATAGAAG	0.517000													126	186					0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27389533	27389533	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:27389533C>G	ENST00000379214.4	-	18	3180	c.2737G>C	c.(2737-2739)Gat>Cat	p.D913H	LGR4_ENST00000389858.4_Missense_Mutation_p.D889H	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	913						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						ACAAAGGAATCTTCTTCATCT	0.532000													4	136					0	0	1	0	0
CD58	965	broad.mit.edu	37	1	117113546	117113546	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:117113546C>G	ENST00000457047.2	-	1	102	c.49G>C	c.(49-51)Gtc>Ctc	p.V17L	CD58_ENST00000369489.5_Missense_Mutation_p.V17L|CD58_ENST00000369487.3_Missense_Mutation_p.V17L	NM_001144822.1	NP_001138294.1	P19256	LFA3_HUMAN	CD58 molecule	17					blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		AGCAGGCAGACCACGCTGAGG	0.741000													3	5					0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234434186	234434186	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:234434186T>C	ENST00000251722.6	-	14	1862	c.1745A>G	c.(1744-1746)gAc>gGc	p.D582G	USP40_ENST00000450966.1_Missense_Mutation_p.D594G|USP40_ENST00000427112.2_Missense_Mutation_p.D582G			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	582					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAGAACCATGTCTCCTTCCCA	0.373000													26	64					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34927038	34927038	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr21:34927038A>G	ENST00000356577.4	+	3	5976	c.5501A>G	c.(5500-5502)cAc>cGc	p.H1834R	SON_ENST00000381679.4_Missense_Mutation_p.H1834R|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.H1834R|SON_ENST00000300278.4_Missense_Mutation_p.H1834R	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	1834					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TCTTCTGAACACAAATCACGC	0.423000													4	71					0	0	1	0	0
AP5S1	55317	broad.mit.edu	37	20	3802937	3802937	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:3802937C>T	ENST00000379573.2	+	2	417	c.173C>T	c.(172-174)gCc>gTc	p.A58V	AP5S1_ENST00000379567.2_Missense_Mutation_p.A58V|AP5S1_ENST00000246041.2_Missense_Mutation_p.A58V	NM_001204446.1|NM_018347.2	NP_001191375.1|NP_060817.1	Q9NUS5	CT029_HUMAN	adaptor-related protein complex 5, sigma 1 subunit	58					double-strand break repair via homologous recombination		protein binding										TTAGCTGTGGCCAGGTAACCA	0.547000													23	62					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25940187	25940187	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:25940187G>C	ENST00000356865.6	-	14	2978	c.2867C>G	c.(2866-2868)tCt>tGt	p.S956C		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	956					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGGGCAGAGAGAGGAGAACCT	0.607000													26	116					0	0	1	0	0
PHB2	11331	broad.mit.edu	37	12	7077734	7077734	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:7077734A>T	ENST00000535923.1	-	4	598	c.317T>A	c.(316-318)cTg>cAg	p.L106Q	PHB2_ENST00000546111.1_Intron|PHB2_ENST00000544134.1_5'UTR|PHB2_ENST00000399433.2_Missense_Mutation_p.L106Q|PHB2_ENST00000440277.1_Missense_Mutation_p.L106Q|PHB2_ENST00000542912.1_Missense_Mutation_p.L106Q	NM_001144831.1	NP_001138303.1	Q99623	PHB2_HUMAN	prohibitin 2	106					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						CAACACTCGCAGGGAGATATT	0.532000													13	38					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30723437	30723437	+	Silent	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr4:30723437C>G	ENST00000361762.2	+	1	1401	c.393C>G	c.(391-393)gtC>gtG	p.V131V	PCDH7_ENST00000543491.1_Silent_p.V131V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	131	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AGGGTCAGGTCATCGTGCTTG	0.602000													9	13					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81111280	81111280	+	Silent	SNP	T	T	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:81111280T>C	ENST00000228644.3	+	1	590	c.438T>C	c.(436-438)taT>taC	p.Y146Y		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	146					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AGAACTACTATAGCCTGCCGG	0.577000													102	172					0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133977	57133977	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:57133977G>C	ENST00000328070.6	+	3	1556	c.1322G>C	c.(1321-1323)gGc>gCc	p.G441A		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	441						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		TACAGGTGCGGCCAGTGCGGG	0.647000													5	63					0	0	1	0	0
ANXA7	310	broad.mit.edu	37	10	75148122	75148122	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:75148122G>C	ENST00000372921.4	-	6	542	c.486C>G	c.(484-486)aaC>aaG	p.N162K	ANXA7_ENST00000535178.1_Missense_Mutation_p.N32K|ANXA7_ENST00000492380.1_5'UTR	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	184							calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					TAGCATCGAAGTTGGCAGCTG	0.378000													21	46					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070563	9070563	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:9070563G>C	ENST00000397910.4	-	3	17086	c.16883C>G	c.(16882-16884)aCc>aGc	p.T5628S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5630	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCAGAGCTGGTTTCTTCCAC	0.537000													3	47					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													7	155					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8617006	8617006	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:8617006C>G	ENST00000338257.8	-	7	814	c.547G>C	c.(547-549)Gat>Cat	p.D183H		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	183	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TTGCCCCCATCTGGCTCCCCA	0.552000													78	124					0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36122537	36122537	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:36122537C>T	ENST00000296603.4	-	9	1427	c.965G>A	c.(964-966)cGa>cAa	p.R322Q		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	322						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TACTTGAGTTCGACGGTGTCT	0.408000													21	37					0	0	1	0	0
SRSF4	6429	broad.mit.edu	37	1	29476672	29476672	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:29476672C>G	ENST00000373795.4	-	5	845	c.611G>C	c.(610-612)aGc>aCc	p.S204T	SRSF4_ENST00000546138.1_Intron|SRSF4_ENST00000466448.1_Intron	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	204	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						TCGGCTTCTGCTCTTACGGGA	0.458000													17	191					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100829810	100829810	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr8:100829810C>G	ENST00000358544.2	+	45	8326	c.8215C>G	c.(8215-8217)Caa>Gaa	p.Q2739E	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.Q2714E	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2739					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTACTTGTCTCAAAGCATAGA	0.373000													24	54					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39835815	39835815	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:39835815C>G	ENST00000564288.1	+	51	13829	c.13052C>G	c.(13051-13053)tCt>tGt	p.S4351C	MACF1_ENST00000317713.7_Missense_Mutation_p.S2289C|MACF1_ENST00000567887.1_Missense_Mutation_p.S4388C|MACF1_ENST00000361689.2_Missense_Mutation_p.S2289C|MACF1_ENST00000545844.1_Missense_Mutation_p.S2289C|MACF1_ENST00000539005.1_Missense_Mutation_p.S2289C|MACF1_ENST00000289893.4_Missense_Mutation_p.S2791C|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000372915.3_Missense_Mutation_p.S4356C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4356					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACGGAAACTTCTATGAGTGCT	0.438000													14	30					0	0	1	0	0
TNFSF8	944	broad.mit.edu	37	9	117666521	117666521	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr9:117666521A>G	ENST00000223795.2	-	4	508	c.395T>C	c.(394-396)gTg>gCg	p.V132A	TNFSF8_ENST00000474301.1_5'UTR	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	132					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GAATTGGATCACCAGATTCCC	0.408000													4	132					0	0	1	0	0
OAZ3	51686	broad.mit.edu	37	1	151742722	151742722	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:151742722G>A	ENST00000479764.1	+	3	3523	c.7G>A	c.(7-9)Gga>Aga	p.G3R	OAZ3_ENST00000400999.1_Missense_Mutation_p.G3R|OAZ3_ENST00000453029.2_Missense_Mutation_p.R153Q|OAZ3_ENST00000321531.5_Missense_Mutation_p.R140Q|OAZ3_ENST00000315067.8_Missense_Mutation_p.R140Q			Q9UMX2	OAZ3_HUMAN	ornithine decarboxylase antizyme 3	0					cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	CAGAATGATCGGAACGACAGA	0.473000													11	311					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156593086	156593086	+	Silent	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:156593086A>G	ENST00000302938.4	-	1	189	c.94T>C	c.(94-96)Ttg>Ctg	p.L32L		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	32						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGTTGTACAATTGTCGTTGC	0.403000													4	123					0	0	1	0	0
PFKFB3	5209	broad.mit.edu	37	10	6257194	6257194	+	Silent	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:6257194C>G	ENST00000379775.4	+	3	543	c.213C>G	c.(211-213)gtC>gtG	p.V71V	PFKFB3_ENST00000536985.1_Silent_p.V51V|PFKFB3_ENST00000317350.4_Silent_p.V71V|PFKFB3_ENST00000540253.1_Silent_p.V85V|PFKFB3_ENST00000379782.3_Silent_p.V71V|PFKFB3_ENST00000360521.2_Silent_p.V71V|PFKFB3_ENST00000379789.4_Silent_p.V51V|PFKFB3_ENST00000379785.1_Silent_p.V71V	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	71	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TGTTCAACGTCGGGGAGTATC	0.577000													13	35					0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167384943	167384943	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:167384943C>G	ENST00000367862.5	+	16	2399	c.2164C>G	c.(2164-2166)Cac>Gac	p.H722D	POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.H670D|POU2F1_ENST00000367866.2_Missense_Mutation_p.H733D|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000541643.3_Missense_Mutation_p.H710D	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	710					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						AGCCAGCCTTCACGCCACCTC	0.617000													13	363					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21438713	21438713	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:21438713G>C	ENST00000313654.9	+	34	4583	c.4342G>C	c.(4342-4344)Gcc>Ccc	p.A1448P	LAMA3_ENST00000399516.3_Missense_Mutation_p.A1448P	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1448	Domain III B.|Laminin EGF-like 12.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTGGACCCAGCCAATCTCAA	0.413000													4	111					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87792427	87792427	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:87792427C>G	ENST00000398204.4	+	23	2331	c.2008C>G	c.(2008-2010)Cct>Gct	p.P670A	ADAM22_ENST00000398201.4_Missense_Mutation_p.P670A|ADAM22_ENST00000265727.7_Missense_Mutation_p.P670A|ADAM22_ENST00000398209.3_Missense_Mutation_p.P670A|ADAM22_ENST00000315984.7_Missense_Mutation_p.P670A	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	670	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAGGTGTCTTCCTGTGGCTTC	0.428000													35	96					0	0	1	0	0
UCN	7349	broad.mit.edu	37	2	27530422	27530422	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:27530422C>G	ENST00000296099.2	-	2	640	c.342G>C	c.(340-342)caG>caC	p.Q114H		NM_003353.2	NP_003344.1	P55089	UCN1_HUMAN	urocortin	114						extracellular region	neuropeptide hormone activity			lung(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATGCGGTTCTGCTCGGCGC	0.647000													38	46					0	0	1	0	0
CCDC91	55297	broad.mit.edu	37	12	28544295	28544295	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:28544295C>G	ENST00000545336.1	+	11	1132	c.713C>G	c.(712-714)tCt>tGt	p.S238C	CCDC91_ENST00000381256.1_Intron|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000539107.1_Intron|CCDC91_ENST00000306172.5_Missense_Mutation_p.S208C|CCDC91_ENST00000381259.1_Missense_Mutation_p.S238C			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	238	Homodimerization.				protein transport	Golgi apparatus|membrane		p.S238F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					CAGTACATTTCTGCAATTGAG	0.368000													27	48					0	0	1	0	0
MS4A4A	51338	broad.mit.edu	37	11	60068530	60068530	+	Splice_Site	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:60068530G>C	ENST00000355131.3	+	5	553	c.330_splice	c.e5+1	p.L110_splice	MS4A4A_ENST00000395016.3_Splice_Site_p.L110_splice|MS4A4A_ENST00000532114.1_Splice_Site_p.L129_splice|MS4A4A_ENST00000337908.4_Splice_Site_p.L129_splice	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	129						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CAAAAGGCCTGGTGAGTAATA	0.299000													8	11					0	0	1	0	0
MAF	4094	broad.mit.edu	37	16	79633769	79633769	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:79633769C>G	ENST00000393350.1	-	1	842	c.31G>C	c.(31-33)Gac>Cac	p.D11H	MAF_ENST00000326043.4_Missense_Mutation_p.D11H|MAF_ENST00000569649.1_Missense_Mutation_p.D11H	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	11					transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GTGGGCAGGTCGGAGTTGCTC	0.612000			T	IGH@	MM								30	68					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46830772	46830772	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:46830772C>G	ENST00000283296.7	-	15	2340	c.2052G>C	c.(2050-2052)caG>caC	p.Q684H	GPR116_ENST00000265417.7_Missense_Mutation_p.Q684H|GPR116_ENST00000545669.1_Missense_Mutation_p.Q113H|GPR116_ENST00000456426.2_Missense_Mutation_p.Q542H|GPR116_ENST00000362015.4_Missense_Mutation_p.Q684H	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	684					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGCATAGCTTCTGGATGACTT	0.507000													35	60					0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180374587	180374587	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:180374587G>C	ENST00000231229.4	+	4	983	c.749G>C	c.(748-750)gGc>gCc	p.G250A	BTNL8_ENST00000400707.3_Missense_Mutation_p.G125A|BTNL8_ENST00000511704.1_Missense_Mutation_p.G134A|BTNL8_ENST00000340184.4_Missense_Mutation_p.G250A|BTNL8_ENST00000508408.1_Missense_Mutation_p.G250A|BTNL8_ENST00000505126.1_Missense_Mutation_p.G43A|BTNL8_ENST00000533815.2_Missense_Mutation_p.G66A	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	250						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTATTTTTTGGCATTGTTGGA	0.458000													108	168					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94038891	94038891	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:94038891A>T	ENST00000297268.6	+	18	1378	c.907A>T	c.(907-909)Aac>Tac	p.N303Y		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	303					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCTGGAGCAAACGGCCTTAC	0.433000										HNSCC(75;0.22)			4	118					0	0	1	0	0
LIG4	3981	broad.mit.edu	37	13	108861247	108861247	+	Silent	SNP	T	T	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:108861247T>C	ENST00000356922.4	-	2	2642	c.2370A>G	c.(2368-2370)gaA>gaG	p.E790E	LIG4_ENST00000405925.1_Silent_p.E790E|LIG4_ENST00000442234.1_Silent_p.E790E	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	790					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AAGCCATTTCTTCAGGAGTCT	0.388000								Non-homologous end-joining					17	36					0	0	1	0	0
PCDHB18	0	broad.mit.edu	37	5	140615277	140615277	+	RNA	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:140615277C>G	ENST00000526308.1	+	0	1340					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						ACAGTTTGCTCAATTCAGGAC	0.478000													11	7					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76937038	76937038	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chrX:76937038G>C	ENST00000373344.5	-	9	3924	c.3710C>G	c.(3709-3711)tCa>tGa	p.S1237*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S1199*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1237					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCCAGTATGTGAAGACAGCAC	0.338000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						43	14					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72991939	72991939	+	Silent	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:72991939G>C	ENST00000268489.5	-	2	2778	c.2106C>G	c.(2104-2106)gtC>gtG	p.V702V	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	702					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTTTGCAGTAGACACAGGAGC	0.597000													13	164					0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703522	55703522	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:55703522C>T	ENST00000301532.3	-	1	354	c.355G>A	c.(355-357)Gcc>Acc	p.A119T		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A119T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TAGGCCATGGCGGCCAGGATG	0.433000													5	61					0	0	1	0	0
PLBD2	196463	broad.mit.edu	37	12	113824841	113824841	+	Silent	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:113824841C>T	ENST00000280800.3	+	10	1417	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	PLBD2_ENST00000545182.2_Silent_p.F430F	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	462					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCCAGATCTTCCGGCGGAACC	0.607000													14	162					0	0	1	0	0
FOXK1	221937	broad.mit.edu	37	7	4796718	4796718	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:4796718G>C	ENST00000328914.4	+	5	1144	c.1144G>C	c.(1144-1146)Gac>Cac	p.D382H	FOXK1_ENST00000446823.1_Missense_Mutation_p.D219H	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	382					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		TTGGCGAATAGACCCTGCCTC	0.572000													5	198					0	0	1	0	0
MCAT	27349	broad.mit.edu	37	22	43529109	43529109	+	Silent	SNP	G	G	A	rs139106285	byFrequency	TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr22:43529109G>A	ENST00000290429.5	-	4	1158	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	371					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				GCACATCCACGGCGCTGTAGG	0.617000													5	240					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95143113	95143113	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr8:95143113A>G	ENST00000027335.3	-	16	2399	c.2275T>C	c.(2275-2277)Tct>Cct	p.S759P	CDH17_ENST00000450165.2_Missense_Mutation_p.S759P|CDH17_ENST00000441892.2_Missense_Mutation_p.S545P	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	759	Cadherin 7.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCTGGTAAAGAAACAATGCCT	0.493000													5	114					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31582665	31582665	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr14:31582665G>C	ENST00000399332.1	-	33	6370	c.5882C>G	c.(5881-5883)tCt>tGt	p.S1961C	HECTD1_ENST00000553700.1_Missense_Mutation_p.S1961C	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1961					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GTTTAACCCAGACTTTGTTCC	0.363000													4	211					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25268628	25268628	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:25268628C>T	ENST00000218548.6	+	11	1775	c.1442C>T	c.(1441-1443)tCa>tTa	p.S481L	ATP12A_ENST00000381946.3_Missense_Mutation_p.S475L	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	475					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TTAAAATTCTCAGAGGTCATT	0.353000											OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	78					0	0	1	0	0
POU1F1	5449	broad.mit.edu	37	3	87313619	87313619	+	Missense_Mutation	SNP	C	C	G	rs142837047		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:87313619C>G	ENST00000350375.2	-	3	382	c.258G>C	c.(256-258)ttG>ttC	p.L86F	POU1F1_ENST00000344265.3_Missense_Mutation_p.L112F|POU1F1_ENST00000560656.1_Missense_Mutation_p.L86F	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	86					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		ATCCATGACTCAAGGTGTGGT	0.413000													29	54					0	0	1	0	0
MYCN	4613	broad.mit.edu	37	2	16086010	16086010	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:16086010G>C	ENST00000281043.3	+	3	1483	c.1186G>C	c.(1186-1188)Gac>Cac	p.D396H		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	396	Helix-loop-helix motif.				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GCGCCGCAACGACCTTCGGTC	0.572000			A		neuroblastoma								5	225					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107423255	107423255	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:107423255G>T	ENST00000340010.5	-	11	1482	c.1298C>A	c.(1297-1299)gCg>gAg	p.A433E	SLC26A3_ENST00000422236.2_Missense_Mutation_p.A398E	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	433					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTGTAGAGGCGCCAGGAGAAA	0.413000													9	140					0.010729	0.0107983	1	1	0
ZNF697	90874	broad.mit.edu	37	1	120166640	120166640	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:120166640G>C	ENST00000421812.2	-	3	445	c.326C>G	c.(325-327)tCt>tGt	p.S109C		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TATGCTGTCAGACTCAGACAG	0.622000													13	30					0	0	1	0	0
LNX2	0	broad.mit.edu	37	13	28155696	28155696	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:28155696C>G	ENST00000316334.3	-	2	274	c.145G>C	c.(145-147)Gtc>Ctc	p.V49L		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	49							zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		ATATGGCAGACTAGGTCATCA	0.443000													4	109					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839350	62839350	+	Silent	SNP	G	G	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:62839350G>A	ENST00000536311.1	+	7	1165	c.801G>A	c.(799-801)gaG>gaA	p.E267E	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E267E			Q01538	MYT1_HUMAN	myelin transcription factor 1	267	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaggaagaggagg	0.577000													3	28					0	0	1	0	0
TXNL4A	10907	broad.mit.edu	37	18	77748273	77748273	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:77748273C>G	ENST00000269601.5	-	1	320	c.120G>C	c.(118-120)aaG>aaC	p.K40N	TXNL4A_ENST00000585474.1_Intron|TXNL4A_ENST00000588162.1_Missense_Mutation_p.K40N|TXNL4A_ENST00000591711.1_Missense_Mutation_p.K40N|TXNL4A_ENST00000592957.1_Intron	NM_006701.2	NP_006692.1	P83876	TXN4A_HUMAN	thioredoxin-like 4A	40					cell division|mitosis|spliceosome assembly	nucleoplasm|spliceosomal complex	protein binding			breast(1)|large_intestine(1)|lung(3)	5		all_cancers(4;1.15e-12)|all_epithelial(4;8.61e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0646)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;7.36e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0249)		CCTCGTCCATCTTCATGCACG	0.667000													7	18					0	0	1	0	0
MTF1	4520	broad.mit.edu	37	1	38281148	38281148	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:38281148G>C	ENST00000373036.4	-	11	2062	c.1922C>G	c.(1921-1923)tCt>tGt	p.S641C		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	641						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTCCTTTGCAGAGTCCCGGCA	0.612000													5	66					0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120347254	120347254	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:120347254G>T	ENST00000283871.5	-	14	1770	c.1311C>A	c.(1309-1311)aaC>aaA	p.N437K		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	437					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GGTTCCTGGAGTTGGGAGTGA	0.468000													39	147					3.09479e-21	3.21858e-21	1	1	0
HCG17	0	broad.mit.edu	37	6	30227842	30227842	+	RNA	SNP	T	T	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:30227842T>C	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA																							TGCTCCGCTATTACAACCAGA	0.667000													3	29					0	0	1	0	0
ARID3B	10620	broad.mit.edu	37	15	74888092	74888092	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:74888092C>G	ENST00000346246.5	+	9	1891	c.1660C>G	c.(1660-1662)Ccc>Gcc	p.P554A		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	555	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CAGCGCAGAGCCCTCCACCAG	0.617000													6	93					0	0	1	0	0
AIPL1	23746	broad.mit.edu	37	17	6331637	6331637	+	Splice_Site	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:6331637C>T	ENST00000381129.3	-	3	546		c.e3+1		AIPL1_ENST00000574506.1_Splice_Site|AIPL1_ENST00000575265.1_Splice_Site|AIPL1_ENST00000570466.1_Splice_Site|AIPL1_ENST00000571740.1_Splice_Site|AIPL1_ENST00000250087.5_Intron|AIPL1_ENST00000576776.1_Splice_Site|AIPL1_ENST00000576307.1_Splice_Site	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1						protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		CCCAGCCCCACCTGCAGCAGC	0.657000													53	19					0	0	1	0	0
CHSY1	22856	broad.mit.edu	37	15	101718744	101718744	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:101718744C>T	ENST00000254190.3	-	3	1733	c.1258G>A	c.(1258-1260)Gcc>Acc	p.A420T	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	420					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGGTCTTGGCGTTGGCATTG	0.577000													22	71					0	0	1	0	0
PCDHA6	0	broad.mit.edu	37	5	140209248	140209248	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:140209248C>G	ENST00000529310.1	+	1	1686	c.1572C>G	c.(1570-1572)gaC>gaG	p.D524E	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.D524E|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCGCTGGACCACGAGGAGC	0.687000													87	213					0	0	1	0	0
IGKV1D-12	0	broad.mit.edu	37	2	90198958	90198958	+	RNA	SNP	G	G	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:90198958G>A	ENST00000390276.2	+	0	300																											GTAGGAGACAGAGTCACCATC	0.488000													4	108					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065338	9065338	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:9065338G>C	ENST00000397910.4	-	3	22311	c.22108C>G	c.(22108-22110)Ctt>Gtt	p.L7370V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7372	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTACTCACAAGAGTGGTTATC	0.493000													5	50					0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	133692502	133692502	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:133692502C>G	ENST00000253861.4	+	17	2630	c.2601C>G	c.(2599-2601)atC>atG	p.I867M	EXOC4_ENST00000539845.1_Missense_Mutation_p.I766M|EXOC4_ENST00000541309.1_Missense_Mutation_p.I155M|EXOC4_ENST00000545148.1_Missense_Mutation_p.I477M	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	867					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AGTCTGGCATCAAGAAAATGT	0.522000													10	51					0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37947817	37947817	+	Silent	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:37947817A>G	ENST00000346872.3	-	5	505	c.444T>C	c.(442-444)tgT>tgC	p.C148C	IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000350532.3_Silent_p.C148C|IKZF3_ENST00000346243.3_Silent_p.C148C|IKZF3_ENST00000467757.1_Intron|IKZF3_ENST00000351680.3_Silent_p.C148C|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000439167.2_Silent_p.C114C|IKZF3_ENST00000377958.2_Silent_p.C61C|IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000535189.1_Silent_p.C114C	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	148					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CACACTGATTACACTGGAATG	0.438000													4	142					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73613031	73613032	+	In_Frame_Ins	INS	-	-	GGA	rs55889738		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:73613031_73613032insGGA	ENST00000264448.6	+	1	146_147	c.35_36insGGA	c.(34-36)cga>cGGAga	p.12_12R>RR	ALMS1_ENST00000377715.1_In_Frame_Ins_p.12_12R>RR|ALMS1_ENST00000409009.1_In_Frame_Ins_p.12_12R>RR	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	12	Glu-rich.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.E27_E28delEE(1)|p.E28_A29insE(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCGGGCGAGCTggaggaggagg	0.698													3	3	---	---	---	---					
VGLL3	389136	broad.mit.edu	37	3	87027857	87027859	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:87027857_87027859delCTC	ENST00000398399.2	-	2	583_585	c.220_222delGAG	c.(220-222)del	p.E74del	VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGGtctttctcctcctcctcc	0.502													7	58	---	---	---	---					
RUNX2	860	broad.mit.edu	37	6	45390354	45390355	+	Frame_Shift_Ins	INS	-	-	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:45390354_45390355insC	ENST00000371438.1	+	2	441_442	c.83_84insC	c.(82-84)accfs	p.T28fs	RUNX2_ENST00000371436.6_Frame_Shift_Ins_p.T28fs|RUNX2_ENST00000541979.1_Frame_Shift_Ins_p.T96fs|RUNX2_ENST00000352853.5_Frame_Shift_Ins_p.T96fs|RUNX2_ENST00000576263.1_Frame_Shift_Ins_p.T28fs|RUNX2_ENST00000359524.5_Frame_Shift_Ins_p.T14fs|RUNX2_ENST00000465038.2_Frame_Shift_Ins_p.T28fs|RUNX2_ENST00000371432.3_Frame_Shift_Ins_p.T14fs	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	28					negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CGGCGCTTCAGCCCCCCCTCCA	0.649													39	181	---	---	---	---					
CTGF	1490	broad.mit.edu	37	6	132271980	132271980	+	Frame_Shift_Del	DEL	T	T	-	rs6934749	by1000genomes	TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:132271980delT	ENST00000367976.3	-	2	419	c.219delA	c.(217-219)ccfs	p.P73fs		NM_001901.2	NP_001892.1	P29279	CTGF_HUMAN	connective tissue growth factor	73	IGFBP N-terminal.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GCGGGTCGCATGGGTCGCGCT	0.716													2	4	---	---	---	---					
COL27A1	85301	broad.mit.edu	37	9	116930987	116930987	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr9:116930987delC	ENST00000356083.3	+	3	1543	c.1152delC	c.(1150-1152)agfs	p.S384fs		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	384	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCATCAAAAGCCCCCATCCTA	0.532													12	218	---	---	---	---					
MYH4	4622	broad.mit.edu	37	17	10363541	10363541	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:10363541delG	ENST00000255381.2	-	13	1355	c.1245delC	c.(1243-1245)acfs	p.T415fs	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	415	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTGGCCTTTGGTTACGAACT	0.428													29	108	---	---	---	---