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
GLUD2	2747	broad.mit.edu	37	X	120182629	120182629	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chrX:120182629C>A	ENST00000328078.1	+	1	1168	c.1091C>A	c.(1090-1092)gCa>gAa	p.A364E		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	364					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	TTCCCCAAGGCAAAGCCCTAT	0.493000													85	33					1.3515e-34	1.76166e-34	0.014410	1	0
TRAP1	10131	broad.mit.edu	37	16	3722789	3722789	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr16:3722789C>T	ENST00000575671.1	-	5	1179	c.450G>A	c.(448-450)ctG>ctA	p.L150L	TRAP1_ENST00000573872.1_Intron|TRAP1_ENST00000246957.5_Silent_p.L359L|TRAP1_ENST00000538171.1_Silent_p.L306L			Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	359					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				CGCTGGAGCCCAGCTCCCGGC	0.622000													5	12					0	0	0.000602	0	0
ISPD	729920	broad.mit.edu	37	7	16415830	16415830	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:16415830C>T	ENST00000407010.2	-	3	570	c.571G>A	c.(571-573)Gtc>Atc	p.V191I	ISPD_ENST00000399310.3_Intron	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	191					isoprenoid biosynthetic process		nucleotidyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						GATGGACTGACGACAGTAGAT	0.418000										Multiple Myeloma(15;0.18)			13	24					0	0	0.002450	0	0
TMEM57	55219	broad.mit.edu	37	1	25810763	25810763	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:25810763C>A	ENST00000374343.4	+	7	1490	c.1311C>A	c.(1309-1311)aaC>aaA	p.N437K	TMEM57_ENST00000399766.3_Missense_Mutation_p.N210K|TMEM57_ENST00000399763.3_Missense_Mutation_p.N79K	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	437						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTGCAGAACAAGTACGTGC	0.572000													17	51					2.48551e-13	2.98717e-13	0.004990	1	0
PLCB4	5332	broad.mit.edu	37	20	9391725	9391725	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr20:9391725G>T	ENST00000378501.2	+	21	2020	c.2005G>T	c.(2005-2007)Gga>Tga	p.G669*	PLCB4_ENST00000378493.1_Nonsense_Mutation_p.G669*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.G669*|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.G669*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.G681*|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.G681*	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	669	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGAGTATAATGGATCGTGCGG	0.368000													12	35					7.03913e-09	8.27018e-09	0.013537	1	0
CD33	945	broad.mit.edu	37	19	51728815	51728815	+	Missense_Mutation	SNP	T	T	C	rs146181856	byFrequency	TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:51728815T>C	ENST00000262262.4	+	2	400	c.379T>C	c.(379-381)Tac>Cac	p.Y127H	CD33_ENST00000436584.2_Intron|CD33_ENST00000421133.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.Y127H	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	127	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	AAGTACCAAATACAGTTACAA	0.532000													53	44					0	0	0.014410	0	0
PCDH18	54510	broad.mit.edu	37	4	138451312	138451312	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr4:138451312A>C	ENST00000344876.4	-	1	2317	c.1931T>G	c.(1930-1932)aTg>aGg	p.M644R	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.M424R|PCDH18_ENST00000412923.2_Missense_Mutation_p.M644R|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	644	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AACAGAATCCATGCTAACGTT	0.438000													4	185					0	0	0.000602	0	0
PTGS2	5743	broad.mit.edu	37	1	186645174	186645174	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:186645174A>C	ENST00000367468.5	-	8	1249	c.1113T>G	c.(1111-1113)taT>taG	p.Y371*	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	371					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	GATGCCAGTGATAGAGGGTGT	0.383000													42	57					0	0	0.011902	0	0
SHB	6461	broad.mit.edu	37	9	38016101	38016101	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr9:38016101G>A	ENST00000377707.3	-	2	1310	c.745C>T	c.(745-747)Ccc>Tcc	p.P249S	RP11-613M10.9_ENST00000540557.1_Missense_Mutation_p.P249S|SHB_ENST00000377700.4_Missense_Mutation_p.P249S	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	249	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		GCATCAAAGGGATCTGAGTAG	0.502000													40	73					0	0	0.005524	0	0
CPA5	93979	broad.mit.edu	37	7	130008281	130008281	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:130008281C>G	ENST00000485477.1	+	12	2283	c.1154C>G	c.(1153-1155)gCc>gGc	p.A385G	CPA5_ENST00000431780.2_Missense_Mutation_p.P357A|CPA5_ENST00000355388.3_Missense_Mutation_p.A385G|CPA5_ENST00000474905.1_Missense_Mutation_p.A385G|CPA5_ENST00000466363.2_Missense_Mutation_p.A385G|CPA5_ENST00000461828.1_Missense_Mutation_p.A385G|CPA5_ENST00000393213.3_Missense_Mutation_p.A385G			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	385					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GTCGACTGGGCCTATGACAGT	0.562000													4	116					0	0	0.000602	0	0
CROT	54677	broad.mit.edu	37	7	87022283	87022283	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:87022283G>T	ENST00000331536.3	+	17	1803	c.1618G>T	c.(1618-1620)Gtt>Ttt	p.V540F	CROT_ENST00000419147.2_Missense_Mutation_p.V568F|CROT_ENST00000442291.1_Missense_Mutation_p.V540F	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	540					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TGGAAATTTTGTTCTCTCAAC	0.383000													44	62					1.41504e-22	1.80848e-22	0.011902	1	0
KCNK9	51305	broad.mit.edu	37	8	140631071	140631071	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr8:140631071G>C	ENST00000520439.1	-	2	618	c.555C>G	c.(553-555)agC>agG	p.S185R	KCNK9_ENST00000303015.1_Missense_Mutation_p.S185R			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	185						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CGTGGAAGAAGCTCCACTCCT	0.592000													19	41					0	0	0.007413	0	0
KAT6B	23522	broad.mit.edu	37	10	76789017	76789017	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:76789017G>A	ENST00000287239.4	+	18	4924	c.4435G>A	c.(4435-4437)Gtc>Atc	p.V1479I	KAT6B_ENST00000372711.1_Missense_Mutation_p.V1296I|KAT6B_ENST00000372714.1_Missense_Mutation_p.V1187I|KAT6B_ENST00000372724.1_Missense_Mutation_p.V1187I|KAT6B_ENST00000372725.1_Missense_Mutation_p.V1187I	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1479					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										GGACTGTGGCGTCGACCTGAC	0.527000													16	36					0	0	0.008871	0	0
KIAA1199	57214	broad.mit.edu	37	15	81225737	81225737	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr15:81225737G>A	ENST00000394685.3	+	23	3364	c.2945G>A	c.(2944-2946)cGg>cAg	p.R982Q	KIAA1199_ENST00000356249.5_Missense_Mutation_p.R982Q|KIAA1199_ENST00000220244.3_Missense_Mutation_p.R982Q|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	K1199_HUMAN	KIAA1199	982										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGGCTGGTCCGGCACCCAGAC	0.582000													29	70					0	0	0.010818	0	0
ESPNP	284729	broad.mit.edu	37	1	17034573	17034573	+	RNA	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:17034573C>T	ENST00000492551.1	-	0	194					NR_026567.1																						CATTCACTCCCCTGCGGAGAC	0.701000													3	9					0	0	0.004672	0	0
SUGP2	10147	broad.mit.edu	37	19	19130026	19130026	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:19130026C>T	ENST00000601879.1	-	4	2039	c.1742G>A	c.(1741-1743)cGa>cAa	p.R581Q	SUGP2_ENST00000600377.1_Missense_Mutation_p.R595Q|SUGP2_ENST00000337018.6_Missense_Mutation_p.R581Q|SUGP2_ENST00000452918.2_Missense_Mutation_p.R581Q|SUGP2_ENST00000456085.2_Missense_Mutation_p.R350Q			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	581					mRNA processing|RNA splicing	nucleus	RNA binding	p.R581Q(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTGATCTGCTCGCTGGGGGAC	0.522000													15	27					0	0	0.003163	0	0
ZNF232	7775	broad.mit.edu	37	17	5009729	5009729	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:5009729G>T	ENST00000250076.3	-	5	1379	c.725C>A	c.(724-726)tCa>tAa	p.S242*	ZNF232_ENST00000575898.1_Nonsense_Mutation_p.S233*|ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575538.1_5'UTR	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	215					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						GAACACCTGTGATTCCACTTC	0.448000													30	14					1.39806e-14	1.68797e-14	0.008361	1	0
MAPT	4137	broad.mit.edu	37	17	44096055	44096055	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:44096055C>A	ENST00000344290.5	+	14	2396	c.2074C>A	c.(2074-2076)Ctg>Atg	p.L692M	MAPT_ENST00000415613.2_Missense_Mutation_p.L692M|MAPT_ENST00000420682.2_Missense_Mutation_p.L328M|MAPT_ENST00000351559.5_Missense_Mutation_p.L357M|MAPT_ENST00000262410.5_Missense_Mutation_p.L674M|MAPT_ENST00000340799.5_Missense_Mutation_p.L328M|MAPT_ENST00000576518.1_Missense_Mutation_p.L257M|MAPT_ENST00000347967.5_Missense_Mutation_p.L232M|MAPT_ENST00000574436.1_Missense_Mutation_p.L357M|MAPT_ENST00000571987.1_Missense_Mutation_p.L674M|MAPT_ENST00000334239.8_Missense_Mutation_p.L268M|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000535772.1_Missense_Mutation_p.L326M|MAPT_ENST00000446361.3_Missense_Mutation_p.L299M|MAPT_ENST00000431008.3_Missense_Mutation_p.L326M	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	674		Not glycated.			cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GATTGGGTCCCTGGACAATAT	0.493000													6	186					3.59834e-05	3.99476e-05	0.001168	1	0
ARMCX5	64860	broad.mit.edu	37	X	101857289	101857289	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chrX:101857289A>T	ENST00000604957.1	+	1	2842	c.220A>T	c.(220-222)Aca>Tca	p.T74S	ARMCX5_ENST00000372742.1_Missense_Mutation_p.T74S|ARMCX5_ENST00000536530.1_Missense_Mutation_p.T74S|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.T74S|ARMCX5_ENST00000537008.1_Missense_Mutation_p.T74S|ARMCX5_ENST00000246174.2_Missense_Mutation_p.T74S|RP4-769N13.7_ENST00000602441.1_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	74							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						TATGGCTGTGACAAGGGAAGT	0.483000													26	25					0	0	0.003954	0	0
EIF3A	8661	broad.mit.edu	37	10	120802159	120802159	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:120802159G>T	ENST00000369144.3	-	19	3000	c.2873C>A	c.(2872-2874)cCc>cAc	p.P958H	EIF3A_ENST00000541549.1_Missense_Mutation_p.P924H|EIF3A_ENST00000478852.1_Intron	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	958	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GCCACGCCGGGGAACCCGATC	0.582000													46	118					4.21674e-32	5.46923e-32	0.014410	1	0
CSMD1	64478	broad.mit.edu	37	8	3059180	3059180	+	Silent	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr8:3059180G>A	ENST00000520002.1	-	33	5610	c.5055C>T	c.(5053-5055)acC>acT	p.T1685T	CSMD1_ENST00000602723.1_Silent_p.T1685T|CSMD1_ENST00000400186.3_Silent_p.T1685T|CSMD1_ENST00000602557.1_Silent_p.T1685T|CSMD1_ENST00000542608.1_Silent_p.T1684T|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Silent_p.T1684T|CSMD1_ENST00000537824.1_Silent_p.T1684T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1685	CUB 10.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTGTGCATGGGTTCCATCAA	0.438000													7	11					0	0	0.003080	0	0
NYNRIN	57523	broad.mit.edu	37	14	24880367	24880367	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr14:24880367G>T	ENST00000382554.3	+	5	2818	c.2500G>T	c.(2500-2502)Gtg>Ttg	p.V834L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	834					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGAGGTCACTGTGTTTGTACC	0.592000											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	65					3.77171e-38	4.94094e-38	0.014410	1	0
ZFP36	7538	broad.mit.edu	37	19	39899199	39899199	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:39899199C>A	ENST00000597629.1	+	2	933	c.859C>A	c.(859-861)Cct>Act	p.P287T	ZFP36_ENST00000248673.3_Missense_Mutation_p.P281T			P26651	TTP_HUMAN	ZFP36 ring finger protein	281					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGATCCGACCCTGATGAATA	0.667000													26	82					7.41945e-09	8.67811e-09	0.005443	1	0
KIF1A	547	broad.mit.edu	37	2	241657475	241657475	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:241657475C>T	ENST00000498729.2	-	48	5571	c.5325G>A	c.(5323-5325)ggG>ggA	p.G1775G	KIF1A_ENST00000320389.7_Silent_p.G1674G	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1674					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ACCGTATGGTCCCGGCCAGGA	0.667000													4	14					0	0	0.000602	0	0
AC010731.4	0	broad.mit.edu	37	2	207509209	207509209	+	RNA	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:207509209G>A	ENST00000543490.1	+	0	424																											AGTCATCTGAGAACTTGAAGC	0.493000													10	25					0	0	0.010729	0	0
TRPV3	162514	broad.mit.edu	37	17	3419860	3419860	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:3419860C>T	ENST00000301365.4	-	16	2220	c.2089G>A	c.(2089-2091)Gcc>Acc	p.A697T	TRPV3_ENST00000572519.1_Missense_Mutation_p.A697T|TRPV3_ENST00000576742.1_Missense_Mutation_p.A697T			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	697						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	ATGGTCCTGGCTCTCTGGGGA	0.537000													13	12					0	0	0.001855	0	0
ZNHIT6	54680	broad.mit.edu	37	1	86146537	86146537	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:86146537G>T	ENST00000431532.2	-	7	1101	c.953C>A	c.(952-954)gCt>gAt	p.A318D	ZNHIT6_ENST00000370574.3_Missense_Mutation_p.A357D	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	357					box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						TATGTACTCAGCTTGACTTTG	0.318000													5	19					0.00116845	0.0012394	0.001168	1	0
F11R	50848	broad.mit.edu	37	1	160969992	160969992	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:160969992T>A	ENST00000368026.6	-	5	809	c.535A>T	c.(535-537)Agc>Tgc	p.S179C	F11R_ENST00000472573.1_5'UTR|F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.S130C	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	179	Ig-like V-type 2.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			GCACGGGTGCTTTTGGGATTC	0.512000													45	62					0	0	0.010771	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128983577	128983577	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:128983577C>T	ENST00000274487.4	+	12	2119	c.1974C>T	c.(1972-1974)cgC>cgT	p.R658R	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	658	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GTCGAGAGCGCAAATGTCCTG	0.507000													43	91					0	0	0.008740	0	0
MAP3K12	7786	broad.mit.edu	37	12	53878059	53878059	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:53878059C>T	ENST00000267079.2	-	8	1356	c.1131G>A	c.(1129-1131)gaG>gaA	p.E377E	MAP3K12_ENST00000547035.1_Silent_p.E410E|MAP3K12_ENST00000547488.1_Silent_p.E410E	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	377					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TAAAGTAAGTCTCCTGGGGTG	0.488000													11	31					0	0	0.013537	0	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744004	31744004	+	Nonstop_Mutation	SNP	T	T	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr21:31744004T>A	ENST00000399889.2	-	1	553	c.528A>T	c.(526-528)tgA>tgT	p.*176C		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	0						intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						GTCTGGAAATTCAGCAAGTTG	0.468000													4	53					0	0	0.009096	0	0
ACSF2	80221	broad.mit.edu	37	17	48548429	48548429	+	Missense_Mutation	SNP	C	C	T	rs148600715		TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:48548429C>T	ENST00000427954.2	+	12	1374	c.1331C>T	c.(1330-1332)gCg>gTg	p.A444V	ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000502667.1_Missense_Mutation_p.A406V|ACSF2_ENST00000300441.4_Missense_Mutation_p.A419V|ACSF2_ENST00000504392.1_Missense_Mutation_p.A376V|ACSF2_ENST00000541920.1_Missense_Mutation_p.A259V			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	419					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GTGACATTCGCGCACTTCCCT	0.562000													33	54					0	0	0.004289	0	0
PRMT8	56341	broad.mit.edu	37	12	3686072	3686072	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:3686072A>G	ENST00000382622.3	+	7	1138	c.748A>G	c.(748-750)Atc>Gtc	p.I250V	PRMT8_ENST00000452611.2_Missense_Mutation_p.I241V|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	250					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CATGACCTGCATCCGGGACGT	0.572000													16	264					0	0	0.004990	0	0
KIAA0195	9772	broad.mit.edu	37	17	73485427	73485427	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:73485427A>G	ENST00000314256.7	+	8	1239	c.845A>G	c.(844-846)cAc>cGc	p.H282R	KIAA0195_ENST00000583795.1_3'UTR|KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000375248.5_Missense_Mutation_p.H292R	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	282					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGATGCTACACTATGCTGTG	0.637000													10	68					0	0	0.008291	0	0
DNAI1	27019	broad.mit.edu	37	9	34506628	34506628	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr9:34506628A>G	ENST00000242317.4	+	13	1238	c.1067A>G	c.(1066-1068)gAc>gGc	p.D356G		NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	356					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TGGGTAGATGACTTCATGAAG	0.607000									Kartagener syndrome				10	58					0	0	0.006214	0	0
ASIC2	40	broad.mit.edu	37	17	32483076	32483076	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:32483076C>T	ENST00000359872.6	-	1	1237	c.476G>A	c.(475-477)cGt>cAt	p.R159H		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	159					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	ATGGCCCACACGGTGCAGGAA	0.562000													39	74					0	0	0.004878	0	0
CCDC85A	114800	broad.mit.edu	37	2	56419698	56419698	+	Silent	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:56419698G>A	ENST00000407595.2	+	2	865	c.363G>A	c.(361-363)agG>agA	p.R121R	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	121										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AAGGCAAGAGGGTGTCTCGGG	0.542000													18	60					0	0	0.006122	0	0
WDR35	57539	broad.mit.edu	37	2	20138033	20138033	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:20138033G>A	ENST00000345530.3	-	19	2204	c.2089C>T	c.(2089-2091)Cga>Tga	p.R697*	WDR35_ENST00000416055.2_Nonsense_Mutation_p.R262*|WDR35_ENST00000281405.4_Nonsense_Mutation_p.R686*	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	697										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACCAAAGTCGGGGGTGTGGA	0.438000													22	122					0	0	0.012319	0	0
KIF3B	9371	broad.mit.edu	37	20	30904034	30904034	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr20:30904034A>C	ENST00000375712.3	+	3	1585	c.1418A>C	c.(1417-1419)aAg>aCg	p.K473T	KIF3B_ENST00000418717.2_Missense_Mutation_p.K99T	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	473					anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATGGAGAGTAAGTTGCTTGTT	0.408000													11	79					0	0	0.010729	0	0
SBNO1	55206	broad.mit.edu	37	12	123782584	123782584	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:123782584C>T	ENST00000420886.2	-	30	3979	c.3980G>A	c.(3979-3981)gGc>gAc	p.G1327D	SBNO1_ENST00000267176.4_Missense_Mutation_p.G1326D|SBNO1_ENST00000602750.1_Missense_Mutation_p.G1326D|SBNO1_ENST00000602398.1_Missense_Mutation_p.G1327D	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1327							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CACGTTTGTGCCACTGACAGA	0.428000													5	108					0	0	0.000602	0	0
TMEM174	134288	broad.mit.edu	37	5	72469320	72469320	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:72469320A>T	ENST00000296776.5	+	1	299	c.250A>T	c.(250-252)Aca>Tca	p.T84S	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	84						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		AGTTGGGGTGACATTCATCCT	0.532000													46	85					0	0	0.009718	0	0
CYP4F11	57834	broad.mit.edu	37	19	16034706	16034706	+	Silent	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:16034706G>A	ENST00000326742.7	-	6	835	c.834C>T	c.(832-834)ctC>ctT	p.L278L	CYP4F11_ENST00000248041.7_Silent_p.L278L|CYP4F11_ENST00000402119.3_Silent_p.L278L			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	278					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CCTGAGTGGGGAGGGTGCAGC	0.542000													69	90					0	0	0.014410	0	0
CHIAP2	149620	broad.mit.edu	37	1	111824244	111824244	+	RNA	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:111824244C>T	ENST00000369743.4	+	0	128					NR_003928.1																						GTGCTTCAAGCCTGATGACAT	0.537000													21	28					0	0	0.008871	0	0
OBSL1	23363	broad.mit.edu	37	2	220417282	220417282	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:220417282C>T	ENST00000404537.1	-	18	5340	c.5284G>A	c.(5284-5286)Gcc>Acc	p.A1762T	OBSL1_ENST00000265318.4_3'UTR|OBSL1_ENST00000373876.1_Missense_Mutation_p.A1670T	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1762					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CGGACGCGGGCTCCGGGTCTC	0.731000													6	15					0	0	0.001168	0	0
PRR12	57479	broad.mit.edu	37	19	50105149	50105149	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:50105149C>T	ENST00000418929.2	+	6	4759	c.4747C>T	c.(4747-4749)Cgt>Tgt	p.R1583C		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	762							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GTTCGTCATCCGTGCTGAGGA	0.612000													4	32					0	0	0.009096	0	0
XRCC5	7520	broad.mit.edu	37	2	217002844	217002844	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:217002844A>C	ENST00000392133.3	+	14	1745	c.1284A>C	c.(1282-1284)gaA>gaC	p.E428D	XRCC5_ENST00000471649.1_3'UTR|XRCC5_ENST00000392132.2_Missense_Mutation_p.E428D			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	428	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		CTTTCATGGAAGACTTGCGGC	0.368000								Non-homologous end-joining					11	15					0	0	0.008291	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576945	33576945	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:33576945C>T	ENST00000504830.1	-	19	3521	c.3186G>A	c.(3184-3186)ctG>ctA	p.L1062L	ADAMTS12_ENST00000352040.3_Silent_p.L977L	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1062	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GTTTCCCACCCAGGTCTCCTT	0.547000										HNSCC(64;0.19)			29	49					0	0	0.005443	0	0
ZNF451	26036	broad.mit.edu	37	6	56997899	56997899	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:56997899A>C	ENST00000370706.4	+	6	728	c.484A>C	c.(484-486)Acg>Ccg	p.T162P	RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.T162P|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.T162P	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AGGAGGCCACACGTGGGTGTC	0.393000													15	47					0	0	0.003163	0	0
A2ML1	144568	broad.mit.edu	37	12	9020506	9020506	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:9020506C>G	ENST00000299698.7	+	30	3966	c.3786C>G	c.(3784-3786)atC>atG	p.I1262M	A2ML1_ENST00000539547.1_Missense_Mutation_p.I771M	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1106						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CTGAGGAGATCAACCTGGTTG	0.453000													33	44					0	0	0.010818	0	0
PROSER1	80209	broad.mit.edu	37	13	39588614	39588614	+	Splice_Site	SNP	C	C	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr13:39588614C>G	ENST00000352251.3	-	11	1609		c.e11-1		PROSER1_ENST00000484434.2_Intron|PROSER1_ENST00000350125.3_Splice_Site	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1																		GTGGAAAATGCTATATGGAAG	0.388000													8	23					0	0	0.003080	0	0
WDR91	29062	broad.mit.edu	37	7	134878366	134878366	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:134878366T>G	ENST00000354475.4	-	10	1485	c.1454A>C	c.(1453-1455)aAt>aCt	p.N485T	WDR91_ENST00000423565.1_Missense_Mutation_p.N450T|WDR91_ENST00000344400.5_Missense_Mutation_p.N485T	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	485										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TTCACAGAGATTCTTCTTGGC	0.572000													9	24					0	0	0.004482	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31485728	31485728	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr16:31485728G>T	ENST00000394863.3	+	6	601	c.471G>T	c.(469-471)gaG>gaT	p.E157D	TGFB1I1_ENST00000361773.3_Missense_Mutation_p.E140D|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.E140D|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.E140D	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	157	Interaction with PTK2B.|Transcription activation (By similarity).				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						CCACTCTGGAGCTGGATAGAC	0.572000													14	81					2.32078e-09	2.73894e-09	0.003163	1	0
RGS7	6000	broad.mit.edu	37	1	241032090	241032090	+	Silent	SNP	T	T	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:241032090T>A	ENST00000366565.1	-	8	894	c.513A>T	c.(511-513)gcA>gcT	p.A171A	RGS7_ENST00000446183.2_Silent_p.A87A|RGS7_ENST00000407727.1_Silent_p.A171A|RGS7_ENST00000331110.7_Silent_p.A145A|RGS7_ENST00000401882.1_Silent_p.A118A|RGS7_ENST00000366562.4_Silent_p.A171A|RGS7_ENST00000366563.1_Silent_p.A171A|RGS7_ENST00000348120.2_Silent_p.A118A|RGS7_ENST00000366564.1_Silent_p.A171A	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	171					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CTTGTGCTTCTGCTTGCATGA	0.448000													12	145					0	0	0.002450	0	0
ZDHHC6	64429	broad.mit.edu	37	10	114194142	114194142	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:114194142A>T	ENST00000369405.3	-	7	1239	c.816T>A	c.(814-816)ttT>ttA	p.F272L	ZDHHC6_ENST00000369404.3_Missense_Mutation_p.F268L	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	272						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		ATACCTGTTTAAAGTTCCTCC	0.398000													5	60					0	0	0.000602	0	0
LINGO1	84894	broad.mit.edu	37	15	77907870	77907870	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr15:77907870G>A	ENST00000355300.6	-	2	553	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	LINGO1_ENST00000561030.1_Missense_Mutation_p.R121C	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	127					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CGGTTGCTGCGGAGACCCAGC	0.602000													13	25					0	0	0.001855	0	0
RRP36	88745	broad.mit.edu	37	6	42996851	42996851	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:42996851T>A	ENST00000244496.5	+	7	675	c.665T>A	c.(664-666)cTa>cAa	p.L222Q		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	222					ribosomal small subunit biogenesis|rRNA processing	nucleolus				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						CAGTTGGCACTAGCTGAGAAG	0.483000													192	285					0	0	0.014410	0	0
CDH12	1010	broad.mit.edu	37	5	21975279	21975279	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:21975279T>A	ENST00000382254.1	-	6	1533	c.447A>T	c.(445-447)aaA>aaT	p.K149N	CDH12_ENST00000504376.2_Missense_Mutation_p.K149N|CDH12_ENST00000522262.1_Missense_Mutation_p.K149N	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	149	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TATCCTGCACTTTGATGATGA	0.423000										HNSCC(59;0.17)			5	77					0	0	0.001168	0	0
EEA1	8411	broad.mit.edu	37	12	93196253	93196253	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:93196253G>C	ENST00000322349.8	-	19	2861	c.2597C>G	c.(2596-2598)tCt>tGt	p.S866C		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	866					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CAAAGAATCAGAAACTTTTGA	0.308000													8	16					0	0	0.003080	0	0
YPEL5	51646	broad.mit.edu	37	2	30379615	30379615	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:30379615C>T	ENST00000379520.3	+	4	602	c.98C>T	c.(97-99)aCt>aTt	p.T33I	YPEL5_ENST00000379519.3_Missense_Mutation_p.T33I|YPEL5_ENST00000261353.4_Missense_Mutation_p.T33I|YPEL5_ENST00000495673.1_3'UTR|YPEL5_ENST00000402708.1_Missense_Mutation_p.T33I|YPEL5_ENST00000402003.3_Missense_Mutation_p.T33I	NM_001127401.1	NP_001120873.1	P62699	YPEL5_HUMAN	yippee-like 5 (Drosophila)	33							peptide-methionine-(S)-S-oxide reductase activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1)	7	Acute lymphoblastic leukemia(172;0.155)					CTCATCTCCACTCGTTTCACA	0.438000													20	131					0	0	0.007413	0	0
OR4N4	283694	broad.mit.edu	37	15	22383155	22383155	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr15:22383155C>A	ENST00000328795.4	+	1	774	c.683C>A	c.(682-684)gCa>gAa	p.A228E	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GTTCGTAGGGCAGCTTCTGAA	0.493000													37	324					9.80977e-26	1.26609e-25	0.004289	1	0
SCARA5	286133	broad.mit.edu	37	8	27779108	27779108	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr8:27779108C>T	ENST00000354914.3	-	4	1381	c.896G>A	c.(895-897)cGg>cAg	p.R299Q	SCARA5_ENST00000524352.1_Missense_Mutation_p.R299Q|SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000518030.1_Missense_Mutation_p.R256Q|SCARA5_ENST00000301906.4_Missense_Mutation_p.R256Q	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	299					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GGAGATGTTCCGCAGTGCGAT	0.657000													10	37					0	0	0.008291	0	0
BCL2L2	599	broad.mit.edu	37	14	23777304	23777304	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr14:23777304A>C	ENST00000250405.5	+	3	557	c.328A>C	c.(328-330)Agt>Cgt	p.S110R	BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.S110R|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.S110R	NM_001199839.1|NM_004050.4	NP_001186768.1|NP_004041.1			BCL2-like 2											central_nervous_system(1)|lung(4)|prostate(1)	6	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00654)		GTGTGCTGAGAGTGTCAACAA	0.582000													39	50					0	0	0.006230	0	0
VCP	7415	broad.mit.edu	37	9	35060329	35060329	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr9:35060329A>C	ENST00000358901.6	-	13	2571	c.1676T>G	c.(1675-1677)gTc>gGc	p.V559G		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	559					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GATTTCTCTGACATTGGCCTC	0.458000													19	26					0	0	0.012319	0	0
TRGV5	6978	broad.mit.edu	37	7	38389104	38389104	+	RNA	SNP	T	T	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:38389104T>C	ENST00000390344.2	-	0	403																											GTTGGAGACGTCATAGTACAG	0.458000													48	59					0	0	0.014410	0	0
SMARCA4	6597	broad.mit.edu	37	19	11096928	11096928	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:11096928C>A	ENST00000358026.2	+	4	703	c.419C>A	c.(418-420)tCt>tAt	p.S140Y	SMARCA4_ENST00000444061.3_Missense_Mutation_p.S140Y|SMARCA4_ENST00000413806.3_Missense_Mutation_p.S140Y|SMARCA4_ENST00000541122.2_Missense_Mutation_p.S140Y|SMARCA4_ENST00000590574.1_Missense_Mutation_p.S140Y|SMARCA4_ENST00000589677.1_Missense_Mutation_p.S140Y|SMARCA4_ENST00000429416.3_Missense_Mutation_p.S140Y|SMARCA4_ENST00000344626.4_Missense_Mutation_p.S140Y|SMARCA4_ENST00000450717.3_Missense_Mutation_p.S140Y	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	140	Necessary for interaction with SS18L1/CREST (By similarity).				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGTGGCCCGTCTTCGGGGCCC	0.662000			"""F, N, Mis"""		NSCLC								28	21					6.38683e-12	7.60614e-12	0.008361	1	0
CACNA1D	776	broad.mit.edu	37	3	53842766	53842766	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr3:53842766C>T	ENST00000288139.3	+	47	6018	c.5900C>T	c.(5899-5901)aCg>aTg	p.T1967M	CACNA1D_ENST00000422281.2_Missense_Mutation_p.T1923M|CACNA1D_ENST00000350061.5_Missense_Mutation_p.T1947M|CACNA1D_ENST00000544977.1_Missense_Mutation_p.T326M	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1947					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.T1967M(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CCCCATCGCACGGCCCTGCCT	0.642000													9	60					0	0	0.006214	0	0
AMER3	205147	broad.mit.edu	37	2	131521973	131521973	+	Silent	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:131521973G>A	ENST00000423981.1	+	2	2438	c.2328G>A	c.(2326-2328)caG>caA	p.Q776Q	AMER3_ENST00000321420.4_Silent_p.Q776Q	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		AGCCCTTGCAGCTCAGCACAG	0.677000													7	18					0	0	0.001984	0	0
SLC19A3	80704	broad.mit.edu	37	2	228563937	228563937	+	Missense_Mutation	SNP	G	G	A	rs144223086	byFrequency	TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:228563937G>A	ENST00000258403.3	-	3	565	c.494C>T	c.(493-495)gCg>gTg	p.A165V	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.A161V	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	165					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CGACATGTTCGCCAGGGATAC	0.542000													48	90					0	0	0.014410	0	0
RHBG	57127	broad.mit.edu	37	1	156348086	156348086	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:156348086C>T	ENST00000400992.2	+	4	841	c.473C>T	c.(472-474)gCc>gTc	p.A158V	RHBG_ENST00000537040.1_Intron|RHBG_ENST00000368249.1_Missense_Mutation_p.A190V|RHBG_ENST00000451864.2_Missense_Mutation_p.A158V|RHBG_ENST00000255013.3_Missense_Mutation_p.A121V|RHBG_ENST00000368246.2_Missense_Mutation_p.A190V			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	190					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					ACCTTTGGTGCCTACTTCGGG	0.642000													7	161					0	0	0.004482	0	0
TANC1	85461	broad.mit.edu	37	2	160028631	160028631	+	Splice_Site	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:160028631G>T	ENST00000263635.6	+	11	1588		c.e11-1		TANC1_ENST00000454300.1_Splice_Site	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TTTCTCTGCAGCCTCTGACCC	0.438000													27	52					7.26314e-15	8.80992e-15	0.007291	1	0
ADIPOQ	9370	broad.mit.edu	37	3	186571026	186571026	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr3:186571026G>A	ENST00000412955.2	+	2	320	c.179G>A	c.(178-180)gGc>gAc	p.G60D	ADIPOQ_ENST00000320741.2_Missense_Mutation_p.G60D|ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000444204.2_Missense_Mutation_p.G60D			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	60	Collagen-like.				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		GGCAGAGATGGCACCCCTGGT	0.567000													9	52					0	0	0.004482	0	0
MECOM	2122	broad.mit.edu	37	3	168807903	168807903	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr3:168807903T>C	ENST00000464456.1	-	13	3895	c.2695A>G	c.(2695-2697)Att>Gtt	p.I899V	MECOM_ENST00000468789.1_Missense_Mutation_p.I908V|MECOM_ENST00000264674.3_Missense_Mutation_p.I973V|MECOM_ENST00000494292.1_Missense_Mutation_p.I1087V|MECOM_ENST00000460814.1_Missense_Mutation_p.I899V|MECOM_ENST00000472280.1_Missense_Mutation_p.I909V|MECOM_ENST00000392736.3_Missense_Mutation_p.I908V|MECOM_ENST00000433243.2_Missense_Mutation_p.I909V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTTCCAGTAATATCATTGTCT	0.408000													35	199					0	0	0.004289	0	0
OGFOD3	79701	broad.mit.edu	37	17	80350348	80350348	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:80350348C>A	ENST00000313056.5	-	9	1037	c.886G>T	c.(886-888)Ggc>Tgc	p.G296C	OGFOD3_ENST00000578287.1_5'UTR|OGFOD3_ENST00000329197.5_3'UTR	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3			2-oxoglutarate and iron-dependent oxygenase domain containing 3																		TAACGGGTGCCCCAGTGGACC	0.622000													5	21					0.00116845	0.0012394	0.001168	1	0
USP45	85015	broad.mit.edu	37	6	99883592	99883592	+	Silent	SNP	T	T	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:99883592T>C	ENST00000327681.6	-	18	2977	c.2445A>G	c.(2443-2445)taA>taG	p.*815*	USP45_ENST00000500704.2_Silent_p.*815*|USP45_ENST00000539675.1_Silent_p.*108*|USP45_ENST00000369233.2_Silent_p.*767*|USP45_ENST00000392738.2_Silent_p.*495*	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	0					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CCATTAATAGTTATAATACTC	0.363000													18	12					0	0	0.004990	0	0
ESRP2	80004	broad.mit.edu	37	16	68265188	68265188	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr16:68265188T>A	ENST00000473183.2	-	12	2142	c.1604A>T	c.(1603-1605)gAg>gTg	p.E535V	ESRP2_ENST00000565858.1_Missense_Mutation_p.E545V			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	545	RRM 3.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CACGTAGCGCTCCTTCATCAC	0.617000													21	39					0	0	0.010504	0	0
DNAH8	1769	broad.mit.edu	37	6	38843395	38843395	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:38843395C>T	ENST00000359357.3	+	51	7252	c.6998C>T	c.(6997-6999)cCc>cTc	p.P2333L	DNAH8_ENST00000449981.2_Missense_Mutation_p.P2550L|DNAH8_ENST00000441566.1_Missense_Mutation_p.P2297L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGGTTAATTCCCTCCAAAGAA	0.303000													24	5					0	0	0.003330	0	0
NEB	4703	broad.mit.edu	37	2	152520126	152520126	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:152520126T>C	ENST00000397345.3	-	45	5901	c.5699A>G	c.(5698-5700)tAc>tGc	p.Y1900C	NEB_ENST00000409198.1_Missense_Mutation_p.Y1900C|NEB_ENST00000427231.2_Missense_Mutation_p.Y1900C|NEB_ENST00000604864.1_Missense_Mutation_p.Y1900C|NEB_ENST00000603639.1_Missense_Mutation_p.Y1900C|NEB_ENST00000172853.10_Missense_Mutation_p.Y1900C	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1900					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAGCATGTTGTAGGTATGGAT	0.483000													8	35					0	0	0.006214	0	0
RAET1G	353091	broad.mit.edu	37	6	150240749	150240749	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:150240749C>A	ENST00000367360.2	-	2	356	c.289G>T	c.(289-291)Gtg>Ttg	p.V97L	RAET1G_ENST00000479265.1_Missense_Mutation_p.V97L	NM_001001788.2	NP_001001788.2	Q6H3X3	RET1G_HUMAN	retinoic acid early transcript 1G	97	MHC class I alpha-1 like.				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		ATGTCCACCACCTCTCTCAGT	0.507000													45	129					3.05275e-18	3.86386e-18	0.013114	1	0
PLCE1	51196	broad.mit.edu	37	10	95931086	95931086	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:95931086C>G	ENST00000260766.3	+	4	2276	c.1642C>G	c.(1642-1644)Cgc>Ggc	p.R548G	PLCE1_ENST00000371385.3_Missense_Mutation_p.R240G|PLCE1_ENST00000371380.2_Missense_Mutation_p.R548G|PLCE1_ENST00000371375.1_Missense_Mutation_p.R240G	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	548	Ras-GEF.		R -> L (in dbSNP:rs17417407).		activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GACTATTTACCGCAGGGTCTT	0.547000													57	121					0	0	0.014410	0	0
RSPH9	221421	broad.mit.edu	37	6	43618143	43618143	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:43618143C>A	ENST00000372165.4	+	2	312	c.259C>A	c.(259-261)Cct>Act	p.P87T	RSPH9_ENST00000372163.4_Missense_Mutation_p.P87T	NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	87					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCTCTTGCCCCCTGCCACAGA	0.537000									Kartagener syndrome				14	81					0.000151284	0.000165152	0.001855	1	0
ERCC6	2074	broad.mit.edu	37	10	50678456	50678456	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:50678456T>C	ENST00000355832.5	-	18	3628	c.3550A>G	c.(3550-3552)Aaa>Gaa	p.K1184E	ERCC6_ENST00000542458.1_Missense_Mutation_p.K554E|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1184					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGTTTTGTTTTTGACTTGTGC	0.388000								Direct reversal of damage;Nucleotide excision repair (NER)					68	100					0	0	0.014410	0	0
HIPK4	147746	broad.mit.edu	37	19	40886277	40886277	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:40886277G>A	ENST00000291823.2	-	3	1905	c.1621C>T	c.(1621-1623)Cga>Tga	p.R541*		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	541						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TCCTCATCTCGCTGCAGGATG	0.622000													38	76					0	0	0.004878	0	0
TP53	7157	broad.mit.edu	37	17	7577126	7577126	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:7577126T>A	ENST00000420246.2	-	8	944	c.812A>T	c.(811-813)gAg>gTg	p.E271V	TP53_ENST00000359597.4_Missense_Mutation_p.E271V|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.E271V|TP53_ENST00000445888.2_Missense_Mutation_p.E271V|TP53_ENST00000269305.4_Missense_Mutation_p.E271V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	271	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and 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.0?(8)|p.E271V(6)|p.E271G(3)|p.?(2)|p.E271fs*74(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.E271*(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271_R273delEVR(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)		AACACGCACCTCAAAGCTGTT	0.532000		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)			16	9					0	0	0.004007	0	0
CLDN23	137075	broad.mit.edu	37	8	8560453	8560453	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr8:8560453C>T	ENST00000519106.1	+	1	1006	c.545C>T	c.(544-546)gCg>gTg	p.A182V		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	182					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CTCAGCTTCGCGCCCTGGTGC	0.726000													13	15					0	0	0.013537	0	0
OBSL1	23363	broad.mit.edu	37	2	220424011	220424011	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:220424011C>T	ENST00000404537.1	-	9	3218	c.3162G>A	c.(3160-3162)gaG>gaA	p.E1054E	RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000265318.4_Silent_p.E1054E|OBSL1_ENST00000373876.1_Silent_p.E1054E|OBSL1_ENST00000603926.1_Silent_p.E1054E|OBSL1_ENST00000265317.5_Silent_p.E45E	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1054	Ig-like 8.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CGCCCCCGTCCTCGGGCTGAG	0.617000													31	109					0	0	0.009535	0	0
C2orf16	84226	broad.mit.edu	37	2	27804830	27804830	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:27804830C>A	ENST00000408964.2	+	1	5442	c.5391C>A	c.(5389-5391)agC>agA	p.S1797R		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1797	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTGAGAGAAGCCATCACAGTC	0.547000													23	322					8.53417e-09	9.93757e-09	0.013726	1	0
CSMD3	114788	broad.mit.edu	37	8	113657362	113657362	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr8:113657362T>A	ENST00000297405.5	-	20	3530	c.3286A>T	c.(3286-3288)Act>Tct	p.T1096S	CSMD3_ENST00000343508.3_Missense_Mutation_p.T1056S|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1096S|CSMD3_ENST00000455883.2_Missense_Mutation_p.T992S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1096	CUB 6.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACATCAACAGTCCATGTACAA	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	42					0	0	0.010729	0	0
ZNF117	51351	broad.mit.edu	37	7	64438979	64438979	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:64438979T>A	ENST00000282869.5	-	4	2254	c.970A>T	c.(970-972)Aaa>Taa	p.K324*		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	324						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TGAATTTTTTTATGGTCAGTA	0.353000													23	39					0	0	0.012319	0	0
PCDHB16	57717	broad.mit.edu	37	5	140564246	140564246	+	Silent	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:140564246G>A	ENST00000361016.2	+	1	3267	c.2112G>A	c.(2110-2112)tcG>tcA	p.S704S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		704					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTCTTTTCGGTGCTCCTGT	0.697000													16	274					0	0	0.004990	0	0
OR5M9	390162	broad.mit.edu	37	11	56230584	56230584	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr11:56230584C>A	ENST00000279791.1	-	1	293	c.294G>T	c.(292-294)caG>caT	p.Q98H		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					AAAAGTAGCACTGCACCAAGC	0.488000													32	59					9.65021e-13	1.1545e-12	0.010818	1	0
BAGE2	85319	broad.mit.edu	37	21	11039387	11039387	+	RNA	SNP	C	C	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr21:11039387C>G	ENST00000470054.1	-	0	816									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATTTCTTCACTATCAGCCTC	0.328000													9	184					0	0	0.004482	0	0
AKAP6	9472	broad.mit.edu	37	14	33015409	33015409	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr14:33015409C>T	ENST00000280979.4	+	4	1720	c.1550C>T	c.(1549-1551)tCa>tTa	p.S517L	AKAP6_ENST00000557354.1_Missense_Mutation_p.S517L|AKAP6_ENST00000557272.1_Missense_Mutation_p.S517L	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	517					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GGGACTGGTTCAGGCAAACAA	0.463000													29	49					0	0	0.005443	0	0
BYSL	705	broad.mit.edu	37	6	41899233	41899233	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:41899233C>T	ENST00000230340.4	+	5	1179	c.804C>T	c.(802-804)ctC>ctT	p.L268L		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	268					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ACAAACGACTCAACTTCCATC	0.522000													31	80					0	0	0.008361	0	0
CCDC129	223075	broad.mit.edu	37	7	31682803	31682803	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:31682803G>C	ENST00000319386.3	+	11	2368	c.1375G>C	c.(1375-1377)Gac>Cac	p.D459H	CCDC129_ENST00000451887.2_Missense_Mutation_p.D633H|CCDC129_ENST00000409210.1_Missense_Mutation_p.D515H|CCDC129_ENST00000407970.3_Missense_Mutation_p.D607H			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	607										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TCATACTCAAGACAAGTTCCT	0.493000													42	95					0	0	0.007835	0	0
KIAA0907	22889	broad.mit.edu	37	1	155895555	155895555	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:155895555C>A	ENST00000368320.3	-	7	786	c.761G>T	c.(760-762)gGt>gTt	p.G254V	KIAA0907_ENST00000368319.3_Missense_Mutation_p.G254V|KIAA0907_ENST00000368321.3_Missense_Mutation_p.G254V|KIAA0907_ENST00000482337.1_5'UTR			Q7Z7F0	K0907_HUMAN	KIAA0907	254										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GCAGCCTGGACCTTCCACCTT	0.458000													18	44					2.94398e-08	3.41294e-08	0.007413	1	0
PCNXL2	80003	broad.mit.edu	37	1	233397851	233397851	+	Silent	SNP	A	A	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:233397851A>G	ENST00000258229.8	-	3	654	c.420T>C	c.(418-420)ccT>ccC	p.P140P	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	140						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGCGGAGGGGAGGCGTGGAGA	0.488000													3	137					0	0	0.004672	0	0
MYO18A	399687	broad.mit.edu	37	17	27426719	27426719	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:27426719C>T	ENST00000527372.1	-	22	3749	c.3569G>A	c.(3568-3570)aGg>aAg	p.R1190K	MYO18A_ENST00000533112.1_Missense_Mutation_p.R1190K|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1190K|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1190K	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1190	IQ.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GGTTAGGTTCCTGCTGGTTTG	0.607000													12	29					0	0	0.010729	0	0
IGFN1	91156	broad.mit.edu	37	1	201196111	201196111	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:201196111G>T	ENST00000335211.4	+	23	11018	c.10888G>T	c.(10888-10890)Gag>Tag	p.E3630*	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCAGGGCTGCGAGTGCTGCAT	0.677000													64	94					2.91325e-39	3.83554e-39	0.014410	1	0
KDM6A	7403	broad.mit.edu	37	X	44942704	44942704	+	Splice_Site	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chrX:44942704G>A	ENST00000377967.4	+	23	3325		c.e23-1		KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTTTATTGCAGGTGGAAGTTG	0.393000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								8	2					0	0	0.003080	0	0
B3GNT3	10331	broad.mit.edu	37	19	17918965	17918965	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:17918965C>T	ENST00000318683.6	+	2	496	c.349C>T	c.(349-351)Cct>Tct	p.P117S	B3GNT3_ENST00000595387.1_Missense_Mutation_p.P117S	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	117					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CAAGTCCTCCCCTAGCAACTA	0.667000													9	32					0	0	0.004482	0	0
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	T	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:40367841T>G	ENST00000221347.6	-	29	13126	c.13119A>C	c.(13117-13119)gcA>gcC	p.A4373A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4373	TIL 10.					extracellular region	protein binding	p.A4373A(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTAAGGGGTGCAGGGGACG	0.627000													14	33					0	0	0.003755	0	0
SEC31B	25956	broad.mit.edu	37	10	102247816	102247816	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:102247816C>A	ENST00000370345.3	-	25	3425	c.3328G>T	c.(3328-3330)Gag>Tag	p.E1110*		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1110					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TATAGATACTCCAGACGCTGG	0.527000													11	21					6.40141e-05	7.07667e-05	0.010729	1	0
SLC41A2	84102	broad.mit.edu	37	12	105282861	105282861	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:105282861A>T	ENST00000258538.3	-	4	957	c.830T>A	c.(829-831)cTt>cAt	p.L277H		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	277						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						AGAGCACAGAAGTATGGAATG	0.398000													18	43					0	0	0.007413	0	0
AUTS2	26053	broad.mit.edu	37	7	69064922	69064922	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:69064922A>C	ENST00000342771.4	+	1	604	c.283A>C	c.(283-285)Agc>Cgc	p.S95R	AUTS2_ENST00000406775.2_Missense_Mutation_p.S95R|AUTS2_ENST00000403018.2_Missense_Mutation_p.S95R	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	95										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TGCCATGACCAGCTTTGTCAC	0.657000													8	25					0	0	0.004482	0	0
SLC9B1	150159	broad.mit.edu	37	4	103912839	103912839	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr4:103912839A>T	ENST00000296422.7	-	2	171	c.30T>A	c.(28-30)caT>caA	p.H10Q	SLC9B1_ENST00000394789.3_Missense_Mutation_p.H10Q	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	10						integral to membrane	solute:hydrogen antiporter activity										CATCCTCCAAATGTTCATTTT	0.264000													3	2					0	0	0.004672	0	0
ALPI	248	broad.mit.edu	37	2	233321697	233321697	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:233321697G>C	ENST00000295463.3	+	4	466	c.389G>C	c.(388-390)gGc>gCc	p.G130A		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	130					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CAGACCATCGGCTTGAGTGCA	0.617000													3	34					0	0	0.004672	0	0
TAF1	6872	broad.mit.edu	37	X	70674608	70674608	+	Silent	SNP	T	T	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chrX:70674608T>C	ENST00000449580.1	+	34	4887	c.4836T>C	c.(4834-4836)acT>acC	p.T1612T	TAF1_ENST00000276072.3_Silent_p.T1633T|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000373790.4_Silent_p.T1612T|TAF1_ENST00000423759.1_Silent_p.T1633T			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1612	Interaction with ASF1A and ASF1B.|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AACATTTGACTCAACTTGAGA	0.378000													13	3					0	0	0.001855	0	0
ZZEF1	23140	broad.mit.edu	37	17	3977538	3977538	+	Silent	SNP	A	A	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:3977538A>G	ENST00000381638.2	-	24	3715	c.3591T>C	c.(3589-3591)gaT>gaC	p.D1197D		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1197							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ACACGGCAACATCGGGCAGCC	0.587000											OREG0024096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	84	70					0	0	0.014410	0	0
XYLB	9942	broad.mit.edu	37	3	38442394	38442394	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr3:38442394G>A	ENST00000207870.3	+	18	1541	c.1451G>A	c.(1450-1452)gGa>gAa	p.G484E	XYLB_ENST00000542835.1_Missense_Mutation_p.G347E|XYLB_ENST00000472721.1_3'UTR	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	484					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CTTGCAGGTGGAACAGATGTG	0.502000													22	21					0	0	0.012319	0	0
TNXB	7148	broad.mit.edu	37	6	32041664	32041664	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:32041664T>C	ENST00000375244.3	-	12	4642	c.4441A>G	c.(4441-4443)Aca>Gca	p.T1481A	TNXB_ENST00000375247.2_Missense_Mutation_p.T1481A			P22105	TENX_HUMAN	tenascin XB	1568	Fibronectin type-III 7.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCTGTCACTGTCAGCTCTCCT	0.587000													4	14					0	0	0.001168	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98678056	98678056	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr9:98678056C>T	ENST00000288985.7	+	5	1233	c.928C>T	c.(928-930)Ctc>Ttc	p.L310F	ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Missense_Mutation_p.L121F	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	310	Helicase ATP-binding.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										CCGCATTGGCCTCACTGGAAC	0.383000													12	36					0	0	0.013537	0	0
CNOT1	23019	broad.mit.edu	37	16	58572083	58572083	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr16:58572083C>T	ENST00000317147.5	-	37	5555	c.5223G>A	c.(5221-5223)caG>caA	p.Q1741Q	CNOT1_ENST00000569240.1_Silent_p.Q1736Q|CNOT1_ENST00000245138.4_Silent_p.Q592Q	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1741					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GAAGATCATACTGCTGCATAT	0.403000													7	23					0	0	0.003080	0	0
TMEM2	23670	broad.mit.edu	37	9	74319658	74319658	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr9:74319658G>A	ENST00000377044.4	-	18	3586	c.3047C>T	c.(3046-3048)cCg>cTg	p.P1016L	TMEM2_ENST00000377066.5_Missense_Mutation_p.P953L|TMEM2_ENST00000396272.3_Missense_Mutation_p.P9L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1016						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGGGTTGGACGGATACTCATC	0.438000													20	28					0	0	0.012319	0	0
TMBIM6	7009	broad.mit.edu	37	12	50135983	50135983	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:50135983G>T	ENST00000423828.1	+	1	392	c.64G>T	c.(64-66)Gtg>Ttg	p.V22L	TMBIM6_ENST00000552699.1_Missense_Mutation_p.V22L|TMBIM6_ENST00000549385.1_Intron|TMBIM6_ENST00000267115.5_Intron	NM_001098576.1	NP_001092046.1	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	0					apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus				lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAGGCGGGAAGTGAGAGGAGT	0.637000													6	23					5.18039e-06	5.82516e-06	0.003080	1	0
TAOK1	57551	broad.mit.edu	37	17	27857580	27857580	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:27857580A>T	ENST00000261716.3	+	18	2823	c.2304A>T	c.(2302-2304)ttA>ttT	p.L768F	TAOK1_ENST00000536202.1_Missense_Mutation_p.L620F	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	768					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CCCGGAAATTAGCTATCTTGG	0.443000													28	37					0	0	0.007291	0	0
ZNF704	619279	broad.mit.edu	37	8	81553638	81553638	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr8:81553638C>G	ENST00000327835.3	-	9	1433	c.1202G>C	c.(1201-1203)tGc>tCc	p.C401S		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	401						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			CTTCCAGCGGCAGGCGGTACA	0.627000													4	19					0	0	0.001984	0	0
LRP1B	53353	broad.mit.edu	37	2	141115638	141115638	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:141115638A>C	ENST00000389484.3	-	74	12276	c.11305T>G	c.(11305-11307)Tgt>Ggt	p.C3769G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3769	LDL-receptor class A 32.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTATTACTACAAGCAAACTCA	0.388000										TSP Lung(27;0.18)			26	45					0	0	0.005443	0	0
GFOD1	54438	broad.mit.edu	37	6	13365330	13365330	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:13365330G>A	ENST00000379287.3	-	2	1482	c.818C>T	c.(817-819)cCg>cTg	p.P273L	GFOD1_ENST00000379284.1_Missense_Mutation_p.P170L	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	273						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			CTCCTGCTCCGGGGCGCTGTT	0.697000													32	16					0	0	0.010818	0	0
COLGALT2	23127	broad.mit.edu	37	1	183923934	183923934	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:183923934C>G	ENST00000361927.4	-	7	1362	c.991G>C	c.(991-993)Gtt>Ctt	p.V331L	COLGALT2_ENST00000367520.3_Missense_Mutation_p.V68L|COLGALT2_ENST00000546159.1_Missense_Mutation_p.V331L	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		TTAGGGACAACTGAGACATAC	0.448000													24	30					0	0	0.003330	0	0
TMEM120B	144404	broad.mit.edu	37	12	122181639	122181639	+	Silent	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:122181639G>A	ENST00000449592.2	+	2	275	c.174G>A	c.(172-174)aaG>aaA	p.K58K		NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	58						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		AGGACTTGAAGCTTACACTCC	0.547000													32	43					0	0	0.009535	0	0
AMIGO3	386724	broad.mit.edu	37	3	49756364	49756364	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr3:49756364C>T	ENST00000535833.1	-	10	3985	c.535G>A	c.(535-537)Ggt>Agt	p.G179S	RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.G179S|RNF123_ENST00000327697.6_Intron|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000497099.1_Intron			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	179					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCGCTCAGACCGTGCAGGTGG	0.642000											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	29					0	0	0.004289	0	0
ST3GAL5	8869	broad.mit.edu	37	2	86075251	86075251	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:86075251A>T	ENST00000377332.3	-	4	503	c.395T>A	c.(394-396)tTa>tAa	p.L132*	ST3GAL5_ENST00000393808.3_Nonsense_Mutation_p.L109*|ST3GAL5_ENST00000393805.1_Nonsense_Mutation_p.L104*	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	132					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						GTGCTCAAATAACAGCGCCAT	0.483000													135	222					0	0	0.014410	0	0
RELN	5649	broad.mit.edu	37	7	103123326	103123326	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:103123326A>G	ENST00000428762.1	-	63	10433	c.10274T>C	c.(10273-10275)gTc>gCc	p.V3425A	RELN_ENST00000473945.1_5'UTR|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.V3425A|RELN_ENST00000424685.2_Missense_Mutation_p.V3425A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3425					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCACAGGACGACCTCCACATG	0.473000													19	62					0	0	0.008871	0	0
APLF	200558	broad.mit.edu	37	2	68772424	68772424	+	Silent	SNP	C	C	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:68772424C>G	ENST00000303795.4	+	8	1437	c.1266C>G	c.(1264-1266)ccC>ccG	p.P422P	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	422					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						CTGAATGTCCCTATGGACCAT	0.423000													6	47					0	0	0.001168	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617533	111617533	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr9:111617533C>T	ENST00000374667.3	-	1	1706	c.678G>A	c.(676-678)ggG>ggA	p.G226G		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	226						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGAGGTCACCCCCAGCGTAGT	0.647000													13	47					0	0	0.004007	0	0
HABP2	3026	broad.mit.edu	37	10	115341746	115341746	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:115341746G>A	ENST00000351270.3	+	9	1046	c.950G>A	c.(949-951)gGc>gAc	p.G317D	HABP2_ENST00000542051.1_Missense_Mutation_p.G291D|HABP2_ENST00000541666.1_Intron	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	317	Peptidase S1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		ATCTATGGAGGCTTTAAGAGC	0.587000													7	97					0	0	0.001984	0	0
BAG3	9531	broad.mit.edu	37	10	121436667	121436667	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:121436667A>G	ENST00000369085.3	+	4	1907	c.1601A>G	c.(1600-1602)aAg>aGg	p.K534R		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	534					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GCAGCAGACAAGGGCAAGAAA	0.552000													23	67					0	0	0.012319	0	0
GNPTAB	79158	broad.mit.edu	37	12	102155370	102155370	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:102155370G>C	ENST00000299314.7	-	14	3149	c.2887C>G	c.(2887-2889)Cgg>Ggg	p.R963G		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	963					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ATAACAATCCGGTCAATCATG	0.388000													24	38					0	0	0.002780	0	0
SVEP1	79987	broad.mit.edu	37	9	113169571	113169571	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr9:113169571C>A	ENST00000401783.2	-	38	8645	c.8309G>T	c.(8308-8310)tGt>tTt	p.C2770F	SVEP1_ENST00000374469.1_Missense_Mutation_p.C2747F|SVEP1_ENST00000297826.5_Missense_Mutation_p.C696F	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2770	Sushi 22.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AATGGCTTCACAGCGTGGGGA	0.468000													9	106					2.17888e-05	2.42922e-05	0.006214	1	0
MANEA	79694	broad.mit.edu	37	6	96053864	96053864	+	Silent	SNP	T	T	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:96053864T>C	ENST00000358812.4	+	5	1106	c.972T>C	c.(970-972)ttT>ttC	p.F324F	MANEA_ENST00000474553.1_3'UTR	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	324	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		ACACATATTTTGCCACAAATG	0.343000													17	12					0	0	0.004990	0	0
DNAH10	196385	broad.mit.edu	37	12	124377980	124377980	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:124377980C>T	ENST00000409039.3	+	52	8867	c.8842C>T	c.(8842-8844)Cca>Tca	p.P2948S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2948	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGAAACTTCCCAGGTACCCG	0.572000													30	55					0	0	0.009535	0	0
RNF10	9921	broad.mit.edu	37	12	121013686	121013686	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:121013686C>T	ENST00000325954.4	+	16	2753	c.2292C>T	c.(2290-2292)tcC>tcT	p.S764S	RNF10_ENST00000542701.1_3'UTR|RNF10_ENST00000413266.2_Silent_p.S769S	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	764					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCAAAATTCCTTCAGCCAAG	0.507000													93	136					0	0	0.014410	0	0
COL4A6	1288	broad.mit.edu	37	X	107413937	107413937	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chrX:107413937C>G	ENST00000334504.7	-	35	3628	c.3395G>C	c.(3394-3396)gGa>gCa	p.G1132A	COL4A6_ENST00000545689.1_Missense_Mutation_p.G1132A|COL4A6_ENST00000394872.2_Missense_Mutation_p.G1133A|COL4A6_ENST00000538570.1_Missense_Mutation_p.G1132A|COL4A6_ENST00000372216.4_Missense_Mutation_p.G1133A	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1133	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GCCGGCAACTCCTGGAAATCC	0.493000									Alport syndrome with Diffuse Leiomyomatosis				21	78					0	0	0.010504	0	0
FSCB	84075	broad.mit.edu	37	14	44975866	44975866	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr14:44975866G>T	ENST00000340446.4	-	1	616	c.325C>A	c.(325-327)Cca>Aca	p.P109T		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	109						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ACACTCTCTGGCAATTCAATA	0.418000													45	97					2.35958e-20	3.00103e-20	0.009718	1	0
FAM129C	199786	broad.mit.edu	37	19	17654420	17654420	+	Missense_Mutation	SNP	C	C	A	rs10401716	byFrequency	TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:17654420C>A	ENST00000335393.4	+	13	1765	c.1627C>A	c.(1627-1629)Ctc>Atc	p.L543I	FAM129C_ENST00000332386.5_Missense_Mutation_p.L543I|FAM129C_ENST00000600871.1_Missense_Mutation_p.L489I|FAM129C_ENST00000595684.1_Missense_Mutation_p.L543I|FAM129C_ENST00000449408.2_Missense_Mutation_p.L269I|FAM129C_ENST00000352727.3_Intron|FAM129C_ENST00000601861.1_Missense_Mutation_p.L512I|FAM129C_ENST00000300971.2_Missense_Mutation_p.L543I|FAM129C_ENST00000599124.1_Intron|FAM129C_ENST00000599164.1_Missense_Mutation_p.L512I	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	543			L -> F (in dbSNP:rs10401716).							autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GCTGAGCCAACTCGAGCCAGG	0.507000													3	23					0.004672	0.00493574	0.004672	1	0
NLRP5	126206	broad.mit.edu	37	19	56539846	56539846	+	Silent	SNP	C	C	T	rs149649207	by1000genomes	TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:56539846C>T	ENST00000390649.3	+	7	2247	c.2247C>T	c.(2245-2247)tcC>tcT	p.S749S		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	749						mitochondrion|nucleolus	ATP binding	p.S749S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GAGATGAGTCCGCTGAGGCAT	0.517000													19	290					0	0	0.008871	0	0
DMXL1	1657	broad.mit.edu	37	5	118445852	118445852	+	Missense_Mutation	SNP	G	G	A	rs141228194		TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:118445852G>A	ENST00000311085.8	+	5	451	c.371G>A	c.(370-372)cGt>cAt	p.R124H	DMXL1_ENST00000539542.1_Missense_Mutation_p.R124H	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	124										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTAGGCAGTCGTCTTTTAACT	0.284000													7	17					0	0	0.001984	0	0
SYNE1	23345	broad.mit.edu	37	6	152542128	152542128	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:152542128A>G	ENST00000367255.5	-	119	22311	c.21710T>C	c.(21709-21711)cTa>cCa	p.L7237P	SYNE1_ENST00000265368.4_Missense_Mutation_p.L7237P|SYNE1_ENST00000423061.1_Missense_Mutation_p.L7166P|SYNE1_ENST00000341594.5_Missense_Mutation_p.L6849P|SYNE1_ENST00000448038.1_Missense_Mutation_p.L7166P|SYNE1_ENST00000356820.4_Missense_Mutation_p.L1761P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7237					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGCTGAAGTAGGGCCTTGCT	0.478000										HNSCC(10;0.0054)			24	40					0	0	0.014323	0	0
MUC16	94025	broad.mit.edu	37	19	9082378	9082378	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:9082378C>G	ENST00000397910.4	-	1	9640	c.9437G>C	c.(9436-9438)aGc>aCc	p.S3146T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3147	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						TGAAATAGAGCTTGCCCATGT	0.473000													22	24					0	0	0.014323	0	0
CHRNA3	1136	broad.mit.edu	37	15	78894291	78894291	+	Silent	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr15:78894291G>T	ENST00000326828.5	-	5	1077	c.693C>A	c.(691-693)atC>atA	p.I231I	CHRNA3_ENST00000348639.3_Silent_p.I231I	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	231					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCGAGTATGTGATGTCGGGGT	0.547000													22	29					9.95505e-16	1.22452e-15	0.014323	1	0
TTN	7273	broad.mit.edu	37	2	179604400	179604400	+	Silent	SNP	A	A	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:179604400A>G	ENST00000589042.1	-	48	13784	c.13560T>C	c.(13558-13560)acT>acC	p.T4520T	TTN_ENST00000359218.5_Silent_p.T4282T|TTN_ENST00000460472.2_Silent_p.T4157T|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Silent_p.T4203T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.T4349T|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4203	Ig-like 25.						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)			CTTCTGGTTCAGTAATGGGTT	0.393000													40	106					0	0	0.004878	0	0
ARSK	153642	broad.mit.edu	37	5	94936601	94936601	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:94936601C>T	ENST00000380009.4	+	7	1352	c.1147C>T	c.(1147-1149)Ccg>Tcg	p.P383S		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	383						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		CTCTTTGTTGCCGTTATCATC	0.358000													21	36					0	0	0.012319	0	0
MYO7B	4648	broad.mit.edu	37	2	128394185	128394185	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:128394185C>T	ENST00000389524.4	+	45	6167	c.6114C>T	c.(6112-6114)ctC>ctT	p.L2038L	MYO7B_ENST00000428314.1_Silent_p.L2037L|MYO7B_ENST00000409816.2_Silent_p.L2037L|MYO7B_ENST00000409090.1_Silent_p.L890L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	2037	FERM 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGGTTCTGCTCATCCACCCCA	0.652000													6	12					0	0	0.001984	0	0
OGFOD3	79701	broad.mit.edu	37	17	80350347	80350347	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:80350347C>A	ENST00000313056.5	-	9	1038	c.887G>T	c.(886-888)gGc>gTc	p.G296V	OGFOD3_ENST00000578287.1_5'UTR|OGFOD3_ENST00000329197.5_3'UTR	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3			2-oxoglutarate and iron-dependent oxygenase domain containing 3																		GTAACGGGTGCCCCAGTGGAC	0.627000													5	21					0.00116845	0.0012394	0.001168	1	0
ZNF536	9745	broad.mit.edu	37	19	30936598	30936598	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:30936598C>A	ENST00000355537.3	+	2	2276	c.2129C>A	c.(2128-2130)gCc>gAc	p.A710D		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	710					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACCGGGAGTGCCCAGGAGGAC	0.682000													4	60					0.00909568	0.0094943	0.009096	1	0
CTCF	10664	broad.mit.edu	37	16	67650762	67650762	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr16:67650762G>T	ENST00000264010.4	+	5	1511	c.1067G>T	c.(1066-1068)tGc>tTc	p.C356F	CTCF_ENST00000401394.1_Missense_Mutation_p.C28F	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	356					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TGTTCCATGTGCGATTACGCC	0.448000													80	130					1.06985e-64	1.42285e-64	0.014410	1	0
MUC5B	727897	broad.mit.edu	37	11	1256320	1256320	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr11:1256320G>A	ENST00000447027.1	+	22	2703	c.2645G>A	c.(2644-2646)tGc>tAc	p.C882Y	MUC5B_ENST00000529681.1_Missense_Mutation_p.C879Y			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	879	VWFC 1.				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)		TGCAGCACCTGCAGGAACCGG	0.677000													10	16					0	0	0.008291	0	0
MPO	4353	broad.mit.edu	37	17	56355336	56355336	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:56355336G>T	ENST00000340482.3	-	6	1328	c.1152C>A	c.(1150-1152)aaC>aaA	p.N384K	MPO_ENST00000225275.3_Missense_Mutation_p.N352K|MPO_ENST00000578493.1_5'UTR			P05164	PERM_HUMAN	myeloperoxidase	352					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	TGTTGCGCAGGTTCCTGGCCA	0.642000													26	78					1.42536e-11	1.68979e-11	0.004656	1	0
MBNL1	4154	broad.mit.edu	37	3	152163264	152163264	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr3:152163264A>C	ENST00000282486.6	+	5	2585	c.743A>C	c.(742-744)aAg>aCg	p.K248T	MBNL1_ENST00000545754.1_Missense_Mutation_p.K180T|MBNL1_ENST00000485509.1_Missense_Mutation_p.K248T|MBNL1_ENST00000463374.1_Missense_Mutation_p.K248T|MBNL1_ENST00000498502.1_Missense_Mutation_p.K248T|MBNL1_ENST00000324196.5_Missense_Mutation_p.K248T|MBNL1_ENST00000493459.1_Missense_Mutation_p.K191T|MBNL1_ENST00000492948.1_Missense_Mutation_p.K248T|MBNL1_ENST00000485910.1_Missense_Mutation_p.K180T|MBNL1_ENST00000282488.7_Missense_Mutation_p.K180T|MBNL1_ENST00000324210.5_Missense_Mutation_p.K248T|MBNL1_ENST00000355460.2_Missense_Mutation_p.K248T|MBNL1_ENST00000357472.3_Missense_Mutation_p.K248T			Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	248					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GCCAAGATCAAGGCTGCCCAA	0.512000													137	138					0	0	0.014410	0	0
CDC16	8881	broad.mit.edu	37	13	115002175	115002175	+	Splice_Site	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr13:115002175G>T	ENST00000360383.3	+	2	301		c.e2+1		CDC16_ENST00000356221.3_Splice_Site|CDC16_ENST00000252457.5_Splice_Site|CDC16_ENST00000375308.1_Splice_Site|CDC16_ENST00000375310.1_Splice_Site|CDC16_ENST00000252458.6_Splice_Site|CDC16_ENST00000375312.3_Splice_Site	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			CTCTCTCGTGGTAAGTGACAA	0.358000													21	50					3.8784e-16	4.83877e-16	0.012319	1	0
ADORA1	134	broad.mit.edu	37	1	203134630	203134630	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:203134630C>T	ENST00000367236.4	+	3	1504	c.583C>T	c.(583-585)Ctc>Ttc	p.L195F	ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000337894.4_Missense_Mutation_p.L195F|ADORA1_ENST00000309502.3_Missense_Mutation_p.L195F|ADORA1_ENST00000472535.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	195					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CCCGCTTCTCCTCATGGTCCT	0.552000													23	76					0	0	0.014323	0	0
CYP21A1P	1590	broad.mit.edu	37	6	31975463	31975463	+	RNA	SNP	T	T	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:31975463T>C	ENST00000342991.6	+	0	1386					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										GCAGCGACTGTAGGAGGAGCT	0.657000													2	4					0	0	0.004672	0	0
SLC4A4	8671	broad.mit.edu	37	4	72222834	72222834	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr4:72222834C>A	ENST00000340595.3	+	3	724	c.528C>A	c.(526-528)aaC>aaA	p.N176K	SLC4A4_ENST00000264485.5_Missense_Mutation_p.N220K|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Missense_Mutation_p.N176K|SLC4A4_ENST00000425175.1_Missense_Mutation_p.N220K|SLC4A4_ENST00000351898.6_Missense_Mutation_p.N220K	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	220						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			AGAAATCCAACCTTCGGTCCC	0.483000													23	88					4.72057e-08	5.44841e-08	0.003954	1	0
LRRC15	131578	broad.mit.edu	37	3	194081062	194081062	+	Silent	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr3:194081062G>A	ENST00000347624.3	-	2	796	c.711C>T	c.(709-711)tcC>tcT	p.S237S	LRRC15_ENST00000439944.2_Silent_p.S243S|LRRC15_ENST00000428839.1_Silent_p.S243S	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	237						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		AGAGACCAGGGGAGAGCAGTC	0.552000													5	202					0	0	0.000602	0	0
NAA16	79612	broad.mit.edu	37	13	41891057	41891057	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr13:41891057G>T	ENST00000379406.3	+	2	454	c.130G>T	c.(130-132)Gaa>Taa	p.E44*	NAA16_ENST00000403412.3_Nonsense_Mutation_p.E44*|NAA16_ENST00000379367.3_Nonsense_Mutation_p.E44*	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	44					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AAAATTTGCTGAACATGGAGG	0.368000													8	18					7.48243e-07	8.48656e-07	0.006214	1	0
ADCY10	55811	broad.mit.edu	37	1	167868789	167868789	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:167868789C>T	ENST00000367848.1	-	6	735	c.238G>A	c.(238-240)Gtg>Atg	p.V80M	ADCY10_ENST00000367851.4_Missense_Mutation_p.V172M|ADCY10_ENST00000545172.1_Missense_Mutation_p.V19M			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	172	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACATCGTCCACTGCCTGACCA	0.507000													17	36					0	0	0.004007	0	0
PIAS2	9063	broad.mit.edu	37	18	44424058	44424058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr18:44424058C>A	ENST00000585916.1	-	8	999	c.1000G>T	c.(1000-1002)Gaa>Taa	p.E334*	PIAS2_ENST00000545673.1_Nonsense_Mutation_p.E44*|PIAS2_ENST00000324794.7_Nonsense_Mutation_p.E334*	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	334					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						GTAGCAATTTCACTATCAGGA	0.294000													24	23					5.61819e-17	7.0429e-17	0.005443	1	0
ZNF676	163223	broad.mit.edu	37	19	22363996	22363996	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:22363996C>A	ENST00000397121.2	-	3	840	c.523G>T	c.(523-525)Ggc>Tgc	p.G175C		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAAGCTTTGCCATTTTCTTCA	0.338000													25	33					8.24728e-16	1.0235e-15	0.004656	1	0
CDH11	1009	broad.mit.edu	37	16	65038544	65038544	+	Splice_Site	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr16:65038544C>A	ENST00000394156.3	-	3	682		c.e3+1		CDH11_ENST00000268603.4_Splice_Site|CDH11_ENST00000566827.1_Intron|CDH11_ENST00000569624.1_Intron			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)						adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GGCAGCCTTACCCTGCCCACA	0.572000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			17	16					9.7654e-05	0.000107052	0.007413	1	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													5	221					0	0	0.000602	0	0
CACNA1C	775	broad.mit.edu	37	12	2760859	2760859	+	Silent	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:2760859C>A	ENST00000399655.1	+	32	4264	c.3999C>A	c.(3997-3999)gtC>gtA	p.V1333V	CACNA1C_ENST00000399637.1_Silent_p.V1333V|CACNA1C_ENST00000347598.4_Silent_p.V1381V|CACNA1C_ENST00000399638.1_Silent_p.V1361V|CACNA1C_ENST00000399606.1_Silent_p.V1353V|CACNA1C_ENST00000399591.1_Silent_p.V1322V|CACNA1C_ENST00000399634.1_Silent_p.V1333V|CACNA1C_ENST00000335762.5_Silent_p.V1358V|CACNA1C_ENST00000399597.1_Silent_p.V1333V|CACNA1C_ENST00000399649.1_Silent_p.V1320V|CACNA1C_ENST00000399629.1_Silent_p.V1350V|CACNA1C_ENST00000344100.3_Silent_p.V1355V|CACNA1C_ENST00000399601.1_Silent_p.V1333V|CACNA1C_ENST00000399617.1_Silent_p.V1333V|CACNA1C_ENST00000399644.1_Silent_p.V1333V|CACNA1C_ENST00000402845.3_Silent_p.V1333V|CACNA1C_ENST00000399621.1_Silent_p.V1333V|CACNA1C_ENST00000406454.3_Silent_p.V1333V|CACNA1C_ENST00000399641.1_Silent_p.V1333V|CACNA1C_ENST00000399603.1_Silent_p.V1333V|CACNA1C_ENST00000327702.7_Silent_p.V1333V|CACNA1C_ENST00000399595.1_Silent_p.V1322V	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1381					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGTTCCGGGTCATGCGTCTGG	0.617000													33	57					3.90053e-15	4.77541e-15	0.012213	1	0
ILK	3611	broad.mit.edu	37	11	6631495	6631495	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr11:6631495G>C	ENST00000396751.2	+	11	1651	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	ILK_ENST00000528995.1_Missense_Mutation_p.E338Q|ILK_ENST00000537806.1_Missense_Mutation_p.E265Q|ILK_ENST00000299421.4_Missense_Mutation_p.E399Q|ILK_ENST00000420936.2_Missense_Mutation_p.E399Q|ILK_ENST00000526711.1_3'UTR	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	399	Protein kinase.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		CTCCAATATGGAGATTGGAAT	0.488000													24	30					0	0	0.014323	0	0
GABRB2	2561	broad.mit.edu	37	5	160758103	160758103	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:160758103G>C	ENST00000274547.2	-	9	1081	c.864C>G	c.(862-864)atC>atG	p.I288M	GABRB2_ENST00000517901.1_Missense_Mutation_p.I225M|GABRB2_ENST00000517547.1_Missense_Mutation_p.I128M|GABRB2_ENST00000393959.1_Missense_Mutation_p.I288M|GABRB2_ENST00000353437.6_Missense_Mutation_p.I288M|GABRB2_ENST00000520240.1_Missense_Mutation_p.I288M	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	288					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGTGGGTGTTGATTGTGGTCA	0.428000													46	81					0	0	0.013114	0	0
SPG11	80208	broad.mit.edu	37	15	44941138	44941138	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr15:44941138T>A	ENST00000261866.7	-	7	1544	c.1528A>T	c.(1528-1530)Agt>Tgt	p.S510C	SPG11_ENST00000427534.2_Missense_Mutation_p.S510C|SPG11_ENST00000559193.1_Missense_Mutation_p.S510C|SPG11_ENST00000535302.2_Missense_Mutation_p.S510C|SPG11_ENST00000558319.1_Missense_Mutation_p.S510C	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	510					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GTGCTGGCACTTCCATGGATC	0.398000													14	42					0	0	0.002450	0	0
TTC23L	153657	broad.mit.edu	37	5	34880347	34880347	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:34880347G>T	ENST00000505624.1	+	9	1114	c.1011G>T	c.(1009-1011)gaG>gaT	p.E337D	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	337							binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						TGGGCTCAGAGGATTTTGAAA	0.348000													12	31					1.08611e-07	1.24262e-07	0.010729	1	0
CEP192	55125	broad.mit.edu	37	18	13057679	13057679	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr18:13057679C>T	ENST00000506447.1	+	20	4284	c.4204C>T	c.(4204-4206)Cgc>Tgc	p.R1402C	CEP192_ENST00000325971.8_Missense_Mutation_p.R806C|CEP192_ENST00000430049.2_Missense_Mutation_p.R927C	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	997										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCCAACTGACCGCTGGCTGCA	0.502000													48	13					0	0	0.013114	0	0
IGKV1-16	28938	broad.mit.edu	37	2	89399357	89399357	+	RNA	SNP	A	A	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:89399357A>T	ENST00000479981.1	-	0	372																											GTGGGAGGGTAACTATTATAC	0.512000													57	82					0	0	0.014410	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55304315	55304315	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:55304315C>T	ENST00000398661.2	-	9	1059	c.928G>A	c.(928-930)Ggc>Agc	p.G310S	HMGCLL1_ENST00000274901.4_Missense_Mutation_p.G280S|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.G177S|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.G248S|HMGCLL1_ENST00000508459.1_Missense_Mutation_p.G114S|HMGCLL1_ENST00000507223.1_5'UTR	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	310							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TAAGGGCAGCCACCTAATCCG	0.428000													38	41					0	0	0.004878	0	0
INTS3	65123	broad.mit.edu	37	1	153745728	153745728	+	Silent	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:153745728G>A	ENST00000456435.1	+	29	3877	c.2691G>A	c.(2689-2691)gtG>gtA	p.V897V	INTS3_ENST00000512605.1_Silent_p.V897V|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Silent_p.V1037V|INTS3_ENST00000318967.2_Silent_p.V1037V			Q68E01	INT3_HUMAN	integrator complex subunit 3	1038					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTCTGCAGTGGGCTCTGACA	0.552000													42	74					0	0	0.006999	0	0
ZBP1	81030	broad.mit.edu	37	20	56189965	56189965	+	Silent	SNP	T	T	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr20:56189965T>C	ENST00000340462.4	-	3	691	c.411A>G	c.(409-411)aaA>aaG	p.K137K	ZBP1_ENST00000343535.4_Silent_p.K160K|ZBP1_ENST00000541799.1_Silent_p.K160K|ZBP1_ENST00000371173.3_Silent_p.K160K|ZBP1_ENST00000395822.3_Silent_p.K85K			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	160						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TCGTCCATGCTTTGGACTGCT	0.557000													57	121					0	0	0.014410	0	0
CACNA1G	8913	broad.mit.edu	37	17	48694921	48694921	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:48694921G>C	ENST00000352832.5	+	27	5414	c.5042G>C	c.(5041-5043)cGc>cCc	p.R1681P	CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1715P|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1715P|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1704P|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1704P|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1681P|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1715P|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1697P|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1681P|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1692P|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1681P|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1704P|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1670P|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1674P|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1681P|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1658P|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1663P|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1692P|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R1715P|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1697P|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1670P|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1722P|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1697P|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1704P|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1715P	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1715					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGGGTGCTGCGCATTGCCCGA	0.622000													12	81					0	0	0.001855	0	0
GSG1	83445	broad.mit.edu	37	12	13238169	13238169	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:13238169C>A	ENST00000337630.6	-	6	714	c.647G>T	c.(646-648)tGg>tTg	p.W216L	GSG1_ENST00000537302.1_Missense_Mutation_p.W188L|GSG1_ENST00000396310.2_Missense_Mutation_p.W185L|GSG1_ENST00000324458.8_Missense_Mutation_p.W252L|GSG1_ENST00000457134.2_Missense_Mutation_p.W165L|GSG1_ENST00000432710.2_Missense_Mutation_p.W229L|GSG1_ENST00000396302.3_Silent_p.L257L|GSG1_ENST00000351606.6_Silent_p.L293L	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	239						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GAAGGAGAGCCAGGCCATGCT	0.483000													13	35					2.27111e-07	2.58709e-07	0.013537	1	0
CERS5	91012	broad.mit.edu	37	12	50535844	50535844	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:50535844G>A	ENST00000317551.6	-	4	608	c.484C>T	c.(484-486)Ctc>Ttc	p.L162F	CERS5_ENST00000422340.2_Missense_Mutation_p.L104F	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	162	TLC.				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										ACCGACCAGAGAAATCTAATT	0.368000													11	15					0	0	0.010729	0	0
IGHV1-2	28474	broad.mit.edu	37	14	106452764	106452764	+	RNA	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr14:106452764C>T	ENST00000390594.2	-	0	321																											TCATGGTGACCCTGCCCTGAA	0.567000													87	249					0	0	0.014410	0	0
CUX1	1523	broad.mit.edu	37	7	101845472	101845472	+	Silent	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:101845472C>A	ENST00000360264.3	+	18	2948	c.2928C>A	c.(2926-2928)atC>atA	p.I976I	CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.I807I|CUX1_ENST00000550008.2_Silent_p.I909I|CUX1_ENST00000549414.2_Silent_p.I943I|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Silent_p.I863I|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292535.7_Silent_p.I965I	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	965					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCCAGAGAATCTTCGGGGAGA	0.562000													10	94					0.000442599	0.000481166	0.006214	1	0
RER1	11079	broad.mit.edu	37	1	2330854	2330854	+	Splice_Site	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:2330854G>A	ENST00000605895.1	+	4	320	c.186_splice	c.e4-1	p.G63_splice	RER1_ENST00000378513.3_Intron|RER1_ENST00000378518.1_Intron|RER1_ENST00000378512.1_Splice_Site_p.G63_splice|RER1_ENST00000488353.1_Splice_Site_p.G63_splice	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	63					retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		TCTCTTTCAGGGTTGGTACAT	0.463000													9	93					0	0	0.004482	0	0
POSTN	10631	broad.mit.edu	37	13	38160349	38160349	+	Silent	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr13:38160349G>T	ENST00000379747.4	-	7	939	c.822C>A	c.(820-822)ccC>ccA	p.P274P	POSTN_ENST00000541481.1_Silent_p.P274P|POSTN_ENST00000541179.1_Silent_p.P274P|POSTN_ENST00000379749.4_Silent_p.P274P|POSTN_ENST00000379742.4_Silent_p.P274P|POSTN_ENST00000379743.4_Silent_p.P274P	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	274	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CCTCATTGGTGGGAGCAAAGA	0.468000													19	54					8.28177e-16	1.0235e-15	0.007413	1	0
C6orf58	352999	broad.mit.edu	37	6	127911377	127911377	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:127911377A>G	ENST00000329722.7	+	5	832	c.820A>G	c.(820-822)Act>Gct	p.T274A		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	274						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TCTTCTTAATACTGATGTAGC	0.398000													51	38					0	0	0.014410	0	0
LINC00969	440993	broad.mit.edu	37	3	195410627	195410627	+	RNA	SNP	A	A	G	rs6583272	by1000genomes	TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr3:195410627A>G	ENST00000445430.1	+	0	1824																											CCTCAGGTGCAGATTGATGAG	0.473000													5	68					0	0	0.001984	0	0
ZFP14	57677	broad.mit.edu	37	19	36853054	36853054	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:36853054C>T	ENST00000270001.7	-	3	211	c.96G>A	c.(94-96)agG>agA	p.R32R	ZFP14_ENST00000589280.1_Silent_p.R32R	NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					ACATTACATCCCTATATAAGT	0.403000													8	48					0	0	0.003080	0	0
MATN2	4147	broad.mit.edu	37	8	99015907	99015907	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr8:99015907T>A	ENST00000254898.5	+	8	1454	c.1223T>A	c.(1222-1224)cTg>cAg	p.L408Q	MATN2_ENST00000522025.2_Missense_Mutation_p.L124Q|MATN2_ENST00000521689.1_Missense_Mutation_p.L408Q|MATN2_ENST00000524308.1_Missense_Mutation_p.L367Q|MATN2_ENST00000520016.1_Missense_Mutation_p.L408Q	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	408	EGF-like 5.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TACTGTGCACTGAACAAACCG	0.597000													9	75					0	0	0.008291	0	0
GRSF1	2926	broad.mit.edu	37	4	71698926	71698926	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr4:71698926C>T	ENST00000254799.6	-	3	696	c.579G>A	c.(577-579)agG>agA	p.R193R	GRSF1_ENST00000439371.1_Silent_p.R31R|GRSF1_ENST00000502323.1_Silent_p.R31R|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000545193.1_Silent_p.R75R	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	193	RRM 1.				mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			AGGCATCACCCCTTCGTTTCC	0.438000													18	61					0	0	0.006122	0	0
MYO15A	51168	broad.mit.edu	37	17	18075505	18075505	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:18075505C>T	ENST00000451725.2	+	8	671	c.632C>T	c.(631-633)cCt>cTt	p.P211L	MYO15A_ENST00000205890.5_Silent_p.S3417S|MYO15A_ENST00000418233.3_Silent_p.S681S			Q9UKN7	MYO15_HUMAN	myosin XVA	669	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCGGCTCCTCCTTCTTCTTCA	0.582000													4	33					0	0	0.009096	0	0
USP12	219333	broad.mit.edu	37	13	27649390	27649390	+	Silent	SNP	T	T	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr13:27649390T>C	ENST00000282344.6	-	7	1126	c.870A>G	c.(868-870)tcA>tcG	p.S290S		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	290					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TGGCATCACCTGAAGTGTTAA	0.408000													17	48					0	0	0.006122	0	0
ATP8B2	57198	broad.mit.edu	37	1	154316484	154316484	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:154316484G>T	ENST00000368489.3	+	18	1973	c.1973G>T	c.(1972-1974)cGg>cTg	p.R658L		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	644					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGGACAGCCGGGAGGACAGG	0.632000													17	32					4.75885e-15	5.79916e-15	0.004990	1	0
C1orf63	57035	broad.mit.edu	37	1	25573139	25573139	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:25573139G>A	ENST00000243189.7	-	2	592	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	C1orf63_ENST00000417642.2_Missense_Mutation_p.R99W|C1orf63_ENST00000431849.2_Missense_Mutation_p.R106W	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63	106	Arg-rich.									breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAAGGAGACCGGTAGTATCTC	0.672000													8	67					0	0	0.003080	0	0
BCL9	607	broad.mit.edu	37	1	147091476	147091476	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:147091476C>T	ENST00000234739.3	+	8	2255	c.1515C>T	c.(1513-1515)caC>caT	p.H505H		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	505	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TCCATCAGCACGGGCCTCGGG	0.567000			T	"""IGH@, IGL@"""	B-ALL								41	100					0	0	0.013114	0	0
CNGB1	1258	broad.mit.edu	37	16	57994742	57994742	+	Splice_Site	SNP	A	A	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr16:57994742A>G	ENST00000564448.1	-	8	595		c.e8+1		CNGB1_ENST00000251102.8_Splice_Site|CNGB1_ENST00000311183.4_Splice_Site			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1						sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TCCTTGGCTCACCTCAGAGGA	0.642000													14	30					0	0	0.004007	0	0
DNAH9	1770	broad.mit.edu	37	17	11554533	11554533	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:11554533G>T	ENST00000262442.3	+	13	2313	c.2245G>T	c.(2245-2247)Gtt>Ttt	p.V749F	DNAH9_ENST00000454412.2_Missense_Mutation_p.V749F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	749	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTACAACAAGGTTATGAAAAC	0.463000													5	69					0.00116845	0.0012394	0.001168	1	0
RCN3	57333	broad.mit.edu	37	19	50046458	50046458	+	Silent	SNP	C	C	T	rs149927163		TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:50046458C>T	ENST00000270645.3	+	7	1422	c.975C>T	c.(973-975)caC>caT	p.H325H		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	325						endoplasmic reticulum lumen	calcium ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		CCCGGCACCACGATGAGCTGT	0.647000													10	27					0	0	0.010729	0	0
PRDM9	56979	broad.mit.edu	37	5	23522937	23522937	+	Silent	SNP	T	T	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:23522937T>C	ENST00000296682.3	+	8	1007	c.825T>C	c.(823-825)ccT>ccC	p.P275P		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	275	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACTTTGGCCCTTATGAGGGCC	0.557000										HNSCC(3;0.000094)			3	84					0	0	0.004672	0	0
SHROOM3	57619	broad.mit.edu	37	4	77662554	77662554	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr4:77662554C>T	ENST00000296043.6	+	5	4181	c.3228C>T	c.(3226-3228)ccC>ccT	p.P1076P		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1076					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGTCGGGGCCCGAGCTGAAGC	0.692000													10	9					0	0	0.008291	0	0
OSTM1	28962	broad.mit.edu	37	6	108395812	108395812	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:108395812G>T	ENST00000193322.3	-	1	129	c.44C>A	c.(43-45)cCg>cAg	p.P15Q		NM_014028.3	NP_054747.2	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	15						integral to membrane				central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		CAGCCACGGCGGCAACGAACA	0.751000													6	6					8.12818e-05	8.94783e-05	0.001984	1	0
LRPPRC	10128	broad.mit.edu	37	2	44145429	44145429	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:44145429T>A	ENST00000260665.7	-	28	3062	c.3005A>T	c.(3004-3006)gAg>gTg	p.E1002V		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1002					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTGGTTACCCTCTCTAAGGAT	0.368000													14	43					0	0	0.001855	0	0
ACY3	91703	broad.mit.edu	37	11	67412541	67412541	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr11:67412541C>T	ENST00000255082.3	-	6	779	c.609G>A	c.(607-609)ctG>ctA	p.L203L	ACY3_ENST00000529256.1_Silent_p.L82L	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	203					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	CGATGAAGTCCAGAACTGTGG	0.617000													58	116					0	0	0.014410	0	0
AK9	221264	broad.mit.edu	37	6	109819090	109819090	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:109819090T>C	ENST00000424296.2	-	37	5201	c.5125A>G	c.(5125-5127)Aga>Gga	p.R1709G	RP5-919F19.5_ENST00000423747.1_RNA	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		AGTGTCAGTCTTTTGGGGATC	0.473000													22	27					0	0	0.014323	0	0
SLC22A9	114571	broad.mit.edu	37	11	63137735	63137735	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr11:63137735A>T	ENST00000279178.3	+	1	456	c.207A>T	c.(205-207)caA>caT	p.Q69H	SLC22A9_ENST00000310969.4_Missense_Mutation_p.Q69H	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	69					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CCCTCAGCCAAGATGCACTCT	0.527000													26	102					0	0	0.003330	0	0
C9orf171	389799	broad.mit.edu	37	9	135447890	135447890	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr9:135447890A>C	ENST00000343036.2	+	7	1004	c.956A>C	c.(955-957)cAc>cCc	p.H319P	C9orf171_ENST00000393216.2_Missense_Mutation_p.H283P	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	319										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						AACTACACCCACCCCTAGCCC	0.597000													6	18					0	0	0.002450	0	0
GSTK1	373156	broad.mit.edu	37	7	142961250	142961250	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:142961250G>A	ENST00000479303.1	+	2	202	c.144G>A	c.(142-144)atG>atA	p.M48I	AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000494735.1_3'UTR|GSTK1_ENST00000358406.5_Missense_Mutation_p.M48I|GSTK1_ENST00000409500.3_Missense_Mutation_p.M48I|GSTK1_ENST00000443571.2_Missense_Mutation_p.M48I	NM_001143679.1	NP_001137151.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	48						outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	CAGGGATCATGAAAGACAGTG	0.567000													16	22					0	0	0.004990	0	0
TMCO1	54499	broad.mit.edu	37	1	165737484	165737484	+	Silent	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:165737484G>A	ENST00000367881.5	-	2	521	c.246C>T	c.(244-246)taC>taT	p.Y82Y	TMCO1_ENST00000580248.1_5'UTR|TMCO1_ENST00000392129.6_Silent_p.Y31Y|TMCO1_ENST00000464650.1_5'UTR			Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	31						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					TGTCTGTCCTGTAAACCAGGA	0.373000													12	19					0	0	0.001855	0	0
ESM1	11082	broad.mit.edu	37	5	54277890	54277890	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:54277890C>T	ENST00000381405.4	-	2	531	c.386G>A	c.(385-387)tGc>tAc	p.C129Y	ESM1_ENST00000598310.1_Intron|ESM1_ENST00000381403.4_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	129					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			GAATTTCAGGCATTTTCCCGT	0.483000													30	36					0	0	0.009535	0	0
C14orf159	80017	broad.mit.edu	37	14	91642340	91642340	+	Missense_Mutation	SNP	G	G	T	rs75931548	byFrequency	TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr14:91642340G>T	ENST00000518868.1	+	10	1360	c.670G>T	c.(670-672)Ggg>Tgg	p.G224W	C14orf159_ENST00000525393.2_Missense_Mutation_p.G95W|C14orf159_ENST00000523816.1_Missense_Mutation_p.G219W|C14orf159_ENST00000522322.1_Missense_Mutation_p.G219W|C14orf159_ENST00000521077.2_Missense_Mutation_p.G224W|C14orf159_ENST00000520328.1_Missense_Mutation_p.G207W|C14orf159_ENST00000523771.1_Missense_Mutation_p.G219W|C14orf159_ENST00000412671.2_Missense_Mutation_p.G224W|C14orf159_ENST00000428926.2_Missense_Mutation_p.G219W|C14orf159_ENST00000256324.10_Missense_Mutation_p.G224W			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	219						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GTGTCCCCCAGGGGAGGTTCC	0.537000													26	45					4.43304e-23	5.69341e-23	0.006320	1	0
RAPGEF6	51735	broad.mit.edu	37	5	130897676	130897676	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:130897676T>A	ENST00000509018.1	-	5	551	c.346A>T	c.(346-348)Att>Ttt	p.I116F	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.I116F|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.I116F|RAPGEF6_ENST00000503398.2_Intron|FNIP1_ENST00000514667.1_Missense_Mutation_p.I166F|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.I116F|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.I116F|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.I116F	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	116					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CTTACCACAATCATTTCTGAA	0.303000													14	43					0	0	0.006122	0	0
RELN	5649	broad.mit.edu	37	7	103163863	103163863	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:103163863C>T	ENST00000428762.1	-	47	7624	c.7465G>A	c.(7465-7467)Ggg>Agg	p.G2489R	RELN_ENST00000343529.5_Missense_Mutation_p.G2489R|RELN_ENST00000424685.2_Missense_Mutation_p.G2489R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2489	EGF-like 6.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATGCATCTCCCATGGCCACTG	0.458000													42	63					0	0	0.010771	0	0
TCP11	6954	broad.mit.edu	37	6	35088707	35088707	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:35088707C>A	ENST00000311875.5	-	6	1150	c.733G>T	c.(733-735)Gaa>Taa	p.E245*	TCP11_ENST00000244645.3_Nonsense_Mutation_p.E170*|TCP11_ENST00000512012.1_Nonsense_Mutation_p.E232*|TCP11_ENST00000418521.2_Nonsense_Mutation_p.E169*|TCP11_ENST00000412155.2_Nonsense_Mutation_p.E194*|TCP11_ENST00000373974.4_Nonsense_Mutation_p.E199*|TCP11_ENST00000444780.2_Nonsense_Mutation_p.E240*|TCP11_ENST00000373979.2_Nonsense_Mutation_p.E170*			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	232					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						TTGAGGAGTTCCTGGAATTTA	0.443000													94	276					1.40862e-40	1.86393e-40	0.014410	1	0
MRGPRX2	117194	broad.mit.edu	37	11	19077367	19077367	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr11:19077367A>C	ENST00000329773.2	-	2	670	c.583T>G	c.(583-585)Ttc>Gtc	p.F195V		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	195					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AGAACCATGAATAAAAAAATC	0.512000													18	13					0	0	0.004990	0	0
ILDR2	387597	broad.mit.edu	37	1	166892037	166892037	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:166892037G>C	ENST00000271417.3	-	8	1059	c.1004C>G	c.(1003-1005)aCc>aGc	p.T335S	ILDR2_ENST00000526687.1_Missense_Mutation_p.T227S|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.T316S|ILDR2_ENST00000525740.1_Missense_Mutation_p.T208S|ILDR2_ENST00000528703.1_Missense_Mutation_p.T276S|ILDR2_ENST00000469934.2_Missense_Mutation_p.T335S	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	335						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TTCTGAGATGGTGTTGTTATC	0.478000													32	72					0	0	0.010818	0	0
OVCA2	124641	broad.mit.edu	37	17	1945365	1945365	+	Silent	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:1945365G>A	ENST00000572195.1	+	1	39	c.24G>A	c.(22-24)cgG>cgA	p.R8R	DPH1_ENST00000263083.6_Intron|DPH1_ENST00000570477.1_Intron	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN	ovarian tumor suppressor candidate 2	8					response to retinoic acid	cytoplasm	hydrolase activity										GACCCCTGCGGGTCCTGTGCC	0.716000											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	4					0	0	0.013537	0	0
SH3BP4	23677	broad.mit.edu	37	2	235949783	235949783	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:235949783A>G	ENST00000409212.1	+	4	877	c.370A>G	c.(370-372)Atg>Gtg	p.M124V	SH3BP4_ENST00000392011.2_Missense_Mutation_p.M124V|SH3BP4_ENST00000344528.4_Missense_Mutation_p.M124V			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	124					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TGACAGCGGTATGATTGATAA	0.527000													17	41					0	0	0.004990	0	0
COL11A1	1301	broad.mit.edu	37	1	103364525	103364525	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:103364525T>C	ENST00000358392.2	-	55	4465	c.4148A>G	c.(4147-4149)gAg>gGg	p.E1383G	COL11A1_ENST00000512756.1_Missense_Mutation_p.E1255G|COL11A1_ENST00000370096.3_Missense_Mutation_p.E1371G|COL11A1_ENST00000353414.4_Missense_Mutation_p.E1332G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1371	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGTCTTCCCTCTGCACCTGC	0.274000													7	10					0	0	0.006214	0	0
CFH	3075	broad.mit.edu	37	1	196648779	196648779	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:196648779A>G	ENST00000367429.4	+	6	886	c.646A>G	c.(646-648)Ata>Gta	p.I216V	CFH_ENST00000439155.2_Missense_Mutation_p.I216V|CFH_ENST00000359637.2_Missense_Mutation_p.I152V	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	216	Sushi 4.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CCCAGATGTTATAAATGGATC	0.299000													6	17					0	0	0.001168	0	0
KPRP	448834	broad.mit.edu	37	1	152732519	152732519	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:152732519A>T	ENST00000368773.1	+	2	513	c.455A>T	c.(454-456)aAc>aTc	p.N152I	KPRP_ENST00000606109.1_Missense_Mutation_p.N152I	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	152	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGTCCAGAACTATGTACCC	0.502000													48	107					0	0	0.011902	0	0
POU6F1	5463	broad.mit.edu	37	12	51590624	51590624	+	Translation_Start_Site	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:51590624C>T	ENST00000389243.4	-	7	942	c.3G>A	c.(1-3)atG>atA	p.M1I	POU6F1_ENST00000333640.10_Start_Codon_SNP_p.M1I|POU6F1_ENST00000550824.1_Start_Codon_SNP_p.M1I			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	1	Gln/Pro-rich.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						TGATCCCTGGCATGCTGGGAA	0.612000													6	84					0	0	0.001168	0	0
ZNF608	57507	broad.mit.edu	37	5	124080411	124080411	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:124080411G>C	ENST00000306315.5	-	1	707	c.272C>G	c.(271-273)tCt>tGt	p.S91C		NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	91						intracellular	zinc ion binding	p.S91F(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CTGGGGAGCAGAGGCCTGAAC	0.498000													4	61					0	0	0.009096	0	0
KIF21B	23046	broad.mit.edu	37	1	200978555	200978555	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:200978555G>A	ENST00000332129.2	-	2	419	c.103C>T	c.(103-105)Ccg>Tcg	p.P35S	KIF21B_ENST00000360529.5_Missense_Mutation_p.P35S|KIF21B_ENST00000422435.2_Missense_Mutation_p.P35S|KIF21B_ENST00000461742.2_Missense_Mutation_p.P35S	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	35	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGCTCTCCCGGGGTAACAGAG	0.577000													4	78					0	0	0.001168	0	0
GATA3	2625	broad.mit.edu	37	10	8097767	8097767	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:8097767T>A	ENST00000379328.3	+	2	717	c.149T>A	c.(148-150)cTt>cAt	p.L50H	GATA3_ENST00000346208.3_Missense_Mutation_p.L50H	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	50					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GTGGATGTGCTTTTTAACATC	0.657000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						6	3					0	0	0.001984	0	0
NEFM	4741	broad.mit.edu	37	8	24772151	24772151	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr8:24772151A>G	ENST00000221166.5	+	1	1627	c.845A>G	c.(844-846)gAc>gGc	p.D282G	NEFM_ENST00000437366.2_Missense_Mutation_p.D282G|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000518131.1_Missense_Mutation_p.D282G|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	282	Coil 2A.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGCCACTCAGACCAGAATATG	0.587000													9	72					0	0	0.006214	0	0
LOC102723924	102723924	broad.mit.edu	37	1	41730644	41730645	+	RNA	INS	-	-	T	rs35691145		TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:41730644_41730645insT	ENST00000445073.1	+	0	132																											ATCTGAGCTGCttttttttttt	0.470													2	4	---	---	---	---					
CELSR2	1952	broad.mit.edu	37	1	109795741	109795743	+	In_Frame_Del	DEL	CTT	CTT	-	rs115856488	byFrequency	TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:109795741_109795743delCTT	ENST00000271332.3	+	1	3101_3103	c.3040_3042delCTT	c.(3040-3042)del	p.L1014del		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1014	Cadherin 8.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGTCCGCCTCCTTGACCGCAATG	0.581													27	73	---	---	---	---					
CEPT1	10390	broad.mit.edu	37	1	111726202	111726203	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:111726202_111726203delTT	ENST00000545121.1	+	8	1332_1333	c.1124_1125delTT	c.(1123-1125)afs	p.I375fs	CEPT1_ENST00000467362.1_3'UTR|CEPT1_ENST00000357172.4_Frame_Shift_Del_p.I375fs	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	375						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	GTACTTTGGATTGCCCTGGTAA	0.361													25	78	---	---	---	---					
TNR	7143	broad.mit.edu	37	1	175372692	175372692	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:175372692delC	ENST00000367674.1	-	4	1268	c.560delG	c.(559-561)gcfs	p.G187fs	TNR_ENST00000263525.2_Frame_Shift_Del_p.G187fs	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	187	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCAGATGCAGCCACAGGACTC	0.577													20	128	---	---	---	---					
MST1	4485	broad.mit.edu	37	3	49723322	49723327	+	In_Frame_Del	DEL	GCGCTG	GCGCTG	-			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr3:49723322_49723327delGCGCTG	ENST00000449682.2	-	10	1577_1582	c.1216_1221delCAGCGC	c.(1216-1221)del	p.QR406del	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	392	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCGGACCAGCGCTGGCACTGGACA	0.704													8	103	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs67907220		TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr4:147560457_147560458insGGC	ENST00000281321.3	+	1	413_414	c.165_166insGGC	c.(163-168)gggcgg>ggGGCgcgg	p.55_56GR>GAR	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	55	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762													8	10	---	---	---	---					
CMBL	134147	broad.mit.edu	37	5	10286575	10286580	+	In_Frame_Del	DEL	TTGTTT	TTGTTT	-			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:10286575_10286580delTTGTTT	ENST00000296658.3	-	4	772_777	c.352_357delAAACAA	c.(352-357)del	p.KQ118del	CMBL_ENST00000510532.1_5'UTR	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	118						cytosol	hydrolase activity|protein binding			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						CATGACACTGTTGTTTCAGATACTTC	0.422													7	31	---	---	---	---					
NSD1	64324	broad.mit.edu	37	5	176638656	176638662	+	Frame_Shift_Del	DEL	AGTAAAG	AGTAAAG	-			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:176638656_176638662delAGTAAAG	ENST00000439151.2	+	5	3301_3307	c.3256_3262delAGTAAAG	c.(3256-3264)agfs	p.SKE1086fs	NSD1_ENST00000354179.4_Frame_Shift_Del_p.SKE817fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.SKE983fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.SKE817fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1086					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGAAGATCCTAGTAAAGAGGATCCCCT	0.449			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			66	24	---	---	---	---					
TRPS1	7227	broad.mit.edu	37	8	116616583	116616584	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr8:116616583_116616584insA	ENST00000395715.3	-	4	2189_2190	c.1612_1613insT	c.(1612-1614)tcafs	p.S538fs	TRPS1_ENST00000220888.5_Frame_Shift_Ins_p.S525fs|TRPS1_ENST00000519674.1_Frame_Shift_Ins_p.S525fs|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000520276.1_Frame_Shift_Ins_p.S529fs	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	525					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ACAGAACTGACAATTATAGCTC	0.460									Langer-Giedion syndrome				130	65	---	---	---	---					
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396277	+	RNA	DEL	G	G	-	rs148140777	by1000genomes	TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:118396277delG	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTT	0.423													3	5	---	---	---	---					
GPR123	84435	broad.mit.edu	37	10	134902448	134902449	+	Frame_Shift_Ins	INS	-	-	G	rs145811832	by1000genomes	TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:134902448_134902449insG	ENST00000607359.1	+	9	1667_1668	c.1667_1668insG	c.(1666-1668)cggfs	p.R556fs	GPR123_ENST00000392607.3_Intron			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GTCCTGCAGCTGGGGGCTAGGC	0.693													3	5	---	---	---	---					
FRY	10129	broad.mit.edu	37	13	32798467	32798468	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr13:32798467_32798468insC	ENST00000380250.3	+	37	5357_5358	c.4861_4862insC	c.(4861-4863)cccfs	p.P1621fs		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGGATGCTGGGCCCCCCTGGTT	0.569													41	54	---	---	---	---					
RASA3	22821	broad.mit.edu	37	13	114839224	114839225	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr13:114839224_114839225insA	ENST00000334062.7	-	2	264_265	c.143_144insT	c.(142-144)tagfs	p.*48fs	RASA3_ENST00000542651.1_Frame_Shift_Ins_p.*48fs|RASA3_ENST00000389544.4_Frame_Shift_Ins_p.*16fs	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	48	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TTTTGGTCCTGAAAACCTCCTC	0.465													28	82	---	---	---	---					
SPG11	80208	broad.mit.edu	37	15	44941194	44941195	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr15:44941194_44941195delAG	ENST00000261866.7	-	7	1487_1488	c.1471_1472delCT	c.(1471-1473)gfs	p.L491fs	SPG11_ENST00000535302.2_Frame_Shift_Del_p.L491fs|SPG11_ENST00000559193.1_Frame_Shift_Del_p.L491fs|SPG11_ENST00000427534.2_Frame_Shift_Del_p.L491fs|SPG11_ENST00000558319.1_Frame_Shift_Del_p.L491fs	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	491					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AAACAAAATCAGAGAGAGTCCA	0.337													12	21	---	---	---	---					
PDPK1	5170	broad.mit.edu	37	16	2611896	2611899	+	Frame_Shift_Del	DEL	CGAC	CGAC	-			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr16:2611896_2611899delCGAC	ENST00000342085.4	+	4	602_605	c.453_456delCGAC	c.(451-456)gafs	p.DD151fs	PDPK1_ENST00000441549.3_Frame_Shift_Del_p.DD151fs|PDPK1_ENST00000268673.7_Intron|RP11-20I23.8_ENST00000569852.1_RNA|PDPK1_ENST00000389224.3_Frame_Shift_Del_p.DD124fs|PDPK1_ENST00000354836.5_Frame_Shift_Del_p.DD151fs	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase-1	151	Protein kinase.				actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	CATTTCAGGACGACGAGAAGCTGT	0.520													2	4	---	---	---	---					
G6PC	2538	broad.mit.edu	37	17	41056042	41056043	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:41056042_41056043delTG	ENST00000253801.2	+	2	404_405	c.325_326delTG	c.(325-327)tfs	p.C109fs	G6PC_ENST00000592383.1_Frame_Shift_Del_p.C109fs|G6PC_ENST00000585489.1_Frame_Shift_Del_p.C109fs	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	109					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCCTGTAACCTGTGAGACTGGA	0.515													34	66	---	---	---	---					
PAX1	5075	broad.mit.edu	37	20	21695398	21695398	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr20:21695398delT	ENST00000398485.2	+	5	1616	c.1562delT	c.(1561-1563)ctfs	p.L521fs	PAX1_ENST00000444366.2_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	521					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CCACACTTCCTTTATTGGTCT	0.637													15	44	---	---	---	---					
RIPK4	54101	broad.mit.edu	37	21	43166897	43166898	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr21:43166897_43166898insA	ENST00000352483.2	-	5	771_772	c.707_708insT	c.(706-708)ggtfs	p.G236fs	RIPK4_ENST00000544709.1_Frame_Shift_Ins_p.G173fs|RIPK4_ENST00000542057.1_Frame_Shift_Ins_p.G173fs|RIPK4_ENST00000332512.3_Frame_Shift_Ins_p.G236fs			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	236						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGCCCTTCACCACCTTCACCAT	0.663													16	149	---	---	---	---					
