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
DYNC1H1	1778	broad.mit.edu	37	14	102478730	102478730	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr14:102478730G>A	ENST00000360184.4	+	34	7101	c.6937G>A	c.(6937-6939)Gag>Aag	p.E2313K		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2313	AAA 2 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGAGTGGGTTGAGAACTTGAA	0.502000													59	101					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208360	58208360	+	Silent	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr13:58208360C>T	ENST00000377918.3	+	1	1706	c.1680C>T	c.(1678-1680)ccC>ccT	p.P560P		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	560	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGGGGGCGCCCGCGCACTTGG	0.607000													21	42					0	0	1	0	0
NAPRT1	93100	broad.mit.edu	37	8	144659233	144659233	+	Splice_Site	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr8:144659233G>A	ENST00000449291.2	-	5	977	c.684_splice	c.e5+1	p.P228_splice	NAPRT1_ENST00000276844.7_Splice_Site_p.P228_splice|NAPRT1_ENST00000435154.3_Splice_Site_p.P228_splice|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000426292.3_Splice_Site_p.P228_splice			Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain containing 1	228					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGGACTGACCGGGTCAGGGGG	0.677000													7	82					0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323454	29323454	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr6:29323454C>A	ENST00000377154.1	-	4	818	c.519G>T	c.(517-519)caG>caT	p.Q173H	OR5V1_ENST00000543825.1_Missense_Mutation_p.Q173H			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGTAATTAATCTGATTGTTGC	0.463000													35	140					3.93418e-24	4.57796e-24	1	1	0
SIRPG	55423	broad.mit.edu	37	20	1638344	1638344	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr20:1638344G>A	ENST00000303415.3	-	1	81	c.17C>T	c.(16-18)tCc>tTc	p.S6F	SIRPG_ENST00000381583.2_Missense_Mutation_p.S6F|SIRPG_ENST00000344103.4_Missense_Mutation_p.S6F|SIRPG_ENST00000216927.4_Missense_Mutation_p.S6F	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	6					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						ATGGGGCCAGGAGGCTGGGAC	0.557000													34	157					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81142864	81142864	+	RNA	SNP	T	T	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr16:81142864T>C	ENST00000534142.1	-	0	1408				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAGAGGGTTTTGTAGGAACGG	0.507000													3	19					0	0	1	0	0
GPATCH3	63906	broad.mit.edu	37	1	27226589	27226589	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:27226589C>G	ENST00000361720.5	-	1	368	c.345G>C	c.(343-345)caG>caC	p.Q115H		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	115						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GAATAAGCCTCTGAGCTTGAG	0.622000													42	84					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50223420	50223420	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr15:50223420C>T	ENST00000284509.6	-	16	1679	c.1538G>A	c.(1537-1539)cGg>cAg	p.R513Q	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R513Q	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	513					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTCTGGGGTCCGGGATTTAAA	0.398000													41	98					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7229363	7229363	+	Missense_Mutation	SNP	G	G	A	rs114551633	by1000genomes	TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr6:7229363G>A	ENST00000379938.2	+	10	1568	c.1031G>A	c.(1030-1032)gGt>gAt	p.G344D	RREB1_ENST00000349384.6_Missense_Mutation_p.G344D|RREB1_ENST00000379933.3_Missense_Mutation_p.G344D|RREB1_ENST00000334984.6_Missense_Mutation_p.G344D	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	344					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCAGACCAGGGTCAAGAAAAG	0.622000													16	30					0	0	1	0	0
PLA2G12A	81579	broad.mit.edu	37	4	110650952	110650952	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr4:110650952G>C	ENST00000243501.5	-	1	281	c.14C>G	c.(13-15)tCg>tGg	p.S5W	PLA2G12A_ENST00000502283.1_Missense_Mutation_p.S5W	NM_030821.4	NP_110448.2	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA	5					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			kidney(1)|lung(1)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000268)		CGCGGGGCGCGAGAGCAGGGC	0.736000													2	5					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123419396	123419396	+	Silent	SNP	C	C	T	rs149482336		TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr3:123419396C>T	ENST00000360772.3	-	19	3297	c.2919G>A	c.(2917-2919)ccG>ccA	p.P973P	MYLK_ENST00000359169.1_Silent_p.P973P|MYLK_ENST00000346322.5_Silent_p.P904P|MYLK_ENST00000475616.1_Silent_p.P973P|MYLK_ENST00000360304.3_Silent_p.P973P			Q15746	MYLK_HUMAN	myosin light chain kinase	973	5 X 28 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGGTTTTGGCGGTGGCACCT	0.587000													4	115					0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47254185	47254185	+	Silent	SNP	G	G	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr6:47254185G>T	ENST00000296861.2	-	2	636	c.243C>A	c.(241-243)acC>acA	p.T81T		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	81					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GGCTTGTGTTGGTACAATGCT	0.542000													20	57					3.51602e-12	3.87974e-12	1	1	0
RICTOR	253260	broad.mit.edu	37	5	38949505	38949505	+	Silent	SNP	G	G	A	rs145088420	by1000genomes	TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr5:38949505G>A	ENST00000296782.5	-	32	4182	c.4161C>T	c.(4159-4161)gtC>gtT	p.V1387V	RICTOR_ENST00000357387.3_Intron			Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1378					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGATTCCCCCGACATGCTTCT	0.333000													24	94					0	0	1	0	0
NAALADL1	10004	broad.mit.edu	37	11	64825883	64825883	+	Silent	SNP	G	G	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:64825883G>T	ENST00000358658.3	-	1	138	c.111C>A	c.(109-111)ccC>ccA	p.P37P	NAALADL1_ENST00000340252.4_Silent_p.P37P|NAALADL1_ENST00000355369.2_Silent_p.P37P|NAALADL1_ENST00000355721.3_Silent_p.P37P|NAALADL1_ENST00000356632.3_Silent_p.P37P|NAALADL1_ENST00000339885.2_Silent_p.P37P	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	37					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CCAGGTCCTGGGGGGCCAGTG	0.642000													3	58					1	1	1	1	0
TRPM6	140803	broad.mit.edu	37	9	77377269	77377269	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr9:77377269G>A	ENST00000451710.3	-	26	4555	c.4318C>T	c.(4318-4320)Ctt>Ttt	p.L1440F	TRPM6_ENST00000361255.3_Missense_Mutation_p.L1435F|TRPM6_ENST00000449912.2_Missense_Mutation_p.L1435F|TRPM6_ENST00000376864.4_Missense_Mutation_p.L1440F|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.L1440F			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1440					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GCTTGGGAAAGAGGGGAGCTC	0.473000													44	207					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46419246	46419246	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:46419246C>A	ENST00000458649.2	-	18	4069	c.3651G>T	c.(3649-3651)gaG>gaT	p.E1217D	AMBRA1_ENST00000314845.3_Missense_Mutation_p.E1127D|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E1098D|AMBRA1_ENST00000426438.1_Missense_Mutation_p.E1188D|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E1157D|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E1188D|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E1157D			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1217					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GTTGCCCGGCCTCTGGGAGCA	0.687000													24	251					3.7963e-18	4.33863e-18	1	1	0
AKAP12	9590	broad.mit.edu	37	6	151671735	151671735	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr6:151671735C>A	ENST00000402676.2	+	4	2449	c.2209C>A	c.(2209-2211)Cca>Aca	p.P737T	AKAP12_ENST00000359755.5_Missense_Mutation_p.P632T|AKAP12_ENST00000253332.1_Missense_Mutation_p.P737T|AKAP12_ENST00000354675.6_Missense_Mutation_p.P639T	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	737					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGAACATGATCCAGGGCAGGG	0.547000													67	181					8.33888e-18	9.44581e-18	1	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77465453	77465453	+	Silent	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr16:77465453G>A	ENST00000282849.5	-	3	652	c.234C>T	c.(232-234)caC>caT	p.H78H	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	78					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCAAAATGTCGTGTGAAATAT	0.488000													101	418					0	0	1	0	0
PDXDC1	23042	broad.mit.edu	37	16	15103580	15103580	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr16:15103580C>G	ENST00000396410.4	+	8	788	c.691C>G	c.(691-693)Cga>Gga	p.R231G	PDXDC1_ENST00000455313.2_Missense_Mutation_p.R208G|PDXDC1_ENST00000325823.7_Missense_Mutation_p.R216G|PDXDC1_ENST00000450288.2_Missense_Mutation_p.R203G|PDXDC1_ENST00000563679.1_Missense_Mutation_p.R249G|PDXDC1_ENST00000535621.2_Missense_Mutation_p.R231G|PDXDC1_ENST00000447912.2_Missense_Mutation_p.R140G|PDXDC1_ENST00000569715.1_Missense_Mutation_p.R204G	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	231					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TGATATAGAGCGAGGAAGACT	0.418000													42	163					0	0	1	0	0
DDX52	11056	broad.mit.edu	37	17	36002269	36002269	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr17:36002269C>G	ENST00000349699.2	-	2	199	c.156G>C	c.(154-156)aaG>aaC	p.K52N	DDX52_ENST00000394367.3_5'UTR	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	52						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				GGACAGACTTCTTGTTTCCAA	0.413000													29	82					0	0	1	0	0
KIAA1161	57462	broad.mit.edu	37	9	34371689	34371689	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr9:34371689C>T	ENST00000297625.7	-	2	1376	c.1151G>A	c.(1150-1152)cGg>cAg	p.R384Q		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	418					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CGCAGGTAACCGGCCCGTGGG	0.672000													5	25					0	0	1	0	0
ZNF169	169841	broad.mit.edu	37	9	97062822	97062822	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr9:97062822C>T	ENST00000395395.2	+	5	1072	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	328						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GCGAGGCTTTCGCCAGAAGAT	0.542000													45	269					0	0	1	0	0
TAS2R50	259296	broad.mit.edu	37	12	11138842	11138842	+	Silent	SNP	G	G	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr12:11138842G>C	ENST00000506868.1	-	1	669	c.618C>G	c.(616-618)ctC>ctG	p.L206L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	206					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						GCATCTTCTTGAGATGTTTAC	0.418000													58	351					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457059	110457059	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr8:110457059G>A	ENST00000378402.5	+	38	5065	c.4961G>A	c.(4960-4962)cGa>cAa	p.R1654Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1654					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTGATAGGCGATTTGTACTT	0.433000										HNSCC(38;0.096)			187	517					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41275254	41275254	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr3:41275254C>T	ENST00000349496.5	+	9	1700	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*	CTNNB1_ENST00000405570.1_Nonsense_Mutation_p.R474*|CTNNB1_ENST00000396183.3_Nonsense_Mutation_p.R474*|CTNNB1_ENST00000396185.3_Nonsense_Mutation_p.R474*|CTNNB1_ENST00000453024.1_Nonsense_Mutation_p.R467*	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	474					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TCTGACCAGCCGACACCAAGA	0.542000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				75	103					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48411940	48411940	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:48411940C>G	ENST00000435803.1	+	33	11003	c.10979C>G	c.(10978-10980)tCa>tGa	p.S3660*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3660					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTGGGATGTCAGTCGTCATG	0.458000													83	673					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150390095	150390095	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:150390095C>G	ENST00000401000.4	+	2	294	c.229C>G	c.(229-231)Ctc>Gtc	p.L77V	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.L77V|RPRD2_ENST00000369067.3_Missense_Mutation_p.L77V|RPRD2_ENST00000539519.1_Missense_Mutation_p.L77V			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	77	CID.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCGTTTGAATCTCTTTTACCT	0.363000													83	207					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30736322	30736322	+	Silent	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr16:30736322C>T	ENST00000262518.4	+	25	5962	c.5577C>T	c.(5575-5577)agC>agT	p.S1859S	SRCAP_ENST00000395059.2_Silent_p.S1797S|SRCAP_ENST00000344771.4_Silent_p.S1701S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1859	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GTCCCCCCAGCCCTCCCTCCA	0.612000													125	132					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14001123	14001123	+	Silent	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr19:14001123C>T	ENST00000454313.1	-	6	604	c.546G>A	c.(544-546)gcG>gcA	p.A182A	C19orf57_ENST00000586783.1_Silent_p.A182A|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Silent_p.A182A			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	182					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TGCCGGGCACCGCCTGCACAG	0.682000													51	102					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131862050	131862050	+	Splice_Site	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr8:131862050C>T	ENST00000286355.5	-	10	4303		c.e10-1		ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGGCATCACTCTGCAGGGAAA	0.468000										HNSCC(32;0.087)			3	46					0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73978743	73978743	+	Missense_Mutation	SNP	G	G	A	rs139427381	byFrequency	TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr14:73978743G>A	ENST00000553558.1	-	7	1846	c.1525C>T	c.(1525-1527)Cgg>Tgg	p.R509W	HEATR4_ENST00000560393.1_Missense_Mutation_p.R462W|HEATR4_ENST00000334988.2_Missense_Mutation_p.R509W	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		ATCCGGGGCCGTTCCAAAGCA	0.517000													30	126					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46898081	46898081	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:46898081G>A	ENST00000378623.1	-	25	3714	c.3472C>T	c.(3472-3474)Cgg>Tgg	p.R1158W		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1158					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AACACTTTCCGCATGGACCCG	0.577000													63	298					0	0	1	0	0
ATHL1	80162	broad.mit.edu	37	11	294141	294141	+	Silent	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:294141C>T	ENST00000409548.2	+	12	1868	c.1753C>T	c.(1753-1755)Ctg>Ttg	p.L585L	ATHL1_ENST00000409479.1_Silent_p.L612L|ATHL1_ENST00000409655.1_Silent_p.L337L	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	585					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGTGAACTTCCTGACAGGCAT	0.667000													33	98					0	0	1	0	0
ENTPD8	377841	broad.mit.edu	37	9	140332687	140332687	+	Silent	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr9:140332687C>T	ENST00000371506.2	-	2	234	c.51G>A	c.(49-51)tcG>tcA	p.S17S	ENTPD8_ENST00000344119.2_Silent_p.S17S|ENTPD8_ENST00000472938.1_Silent_p.S17S	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	17						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CTGAGACCCCCGAGGCCCCCA	0.697000													6	27					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13817674	13817674	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr5:13817674G>T	ENST00000265104.4	-	42	7075	c.6971C>A	c.(6970-6972)aCa>aAa	p.T2324K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2324	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGCTCTTAATGTTTTCCTCCA	0.383000									Kartagener syndrome				20	123					5.35267e-07	5.70951e-07	1	1	0
CTNNA3	29119	broad.mit.edu	37	10	68280411	68280411	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr10:68280411C>T	ENST00000433211.1	-	11	1669	c.1495G>A	c.(1495-1497)Gac>Aac	p.D499N	CTNNA3_ENST00000373744.4_Missense_Mutation_p.D499N	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	499					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTTGTAATGTCATCTACGGCT	0.343000													39	118					0	0	1	0	0
FAM151A	338094	broad.mit.edu	37	1	55078320	55078320	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:55078320G>T	ENST00000302250.2	-	5	799	c.639C>A	c.(637-639)ttC>ttA	p.F213L	FAM151A_ENST00000371304.2_Missense_Mutation_p.F213L|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	213						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						TGGACATGTAGAAGGTGGTCC	0.567000													16	76					6.94344e-10	7.53187e-10	1	1	0
LRP2	4036	broad.mit.edu	37	2	170063539	170063539	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr2:170063539C>T	ENST00000263816.3	-	39	6976	c.6691G>A	c.(6691-6693)Gag>Aag	p.E2231K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2231					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACAATGCCCTCTGACACAAGC	0.463000													68	185					0	0	1	0	0
GPR182	11318	broad.mit.edu	37	12	57389924	57389924	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr12:57389924C>G	ENST00000300098.1	+	2	1150	c.931C>G	c.(931-933)Ctg>Gtg	p.L311V		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	311						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CTTCTCCATGCTGCACTGTGT	0.542000													10	415					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16694532	16694532	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr5:16694532C>T	ENST00000513610.1	-	27	4202	c.3748G>A	c.(3748-3750)Gaa>Aaa	p.E1250K	MYO10_ENST00000505695.1_Missense_Mutation_p.E589K|MYO10_ENST00000427430.2_Missense_Mutation_p.E607K|MYO10_ENST00000274203.9_Missense_Mutation_p.E607K|MYO10_ENST00000515803.1_Missense_Mutation_p.E589K	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1250	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	p.E1250Q(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CTGTCGTTTTCAAAGTACATC	0.552000													61	227					0	0	1	0	0
SQRDL	58472	broad.mit.edu	37	15	45981253	45981253	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr15:45981253C>G	ENST00000260324.7	+	9	1519	c.1133C>G	c.(1132-1134)tCa>tGa	p.S378*	SQRDL_ENST00000568606.1_Nonsense_Mutation_p.S378*	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	378							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GGCTACACATCATGTCCACTG	0.393000													52	224					0	0	1	0	0
AGO2	27161	broad.mit.edu	37	8	141557665	141557665	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr8:141557665C>G	ENST00000220592.5	-	13	1762	c.1650G>C	c.(1648-1650)aaG>aaC	p.K550N	AGO2_ENST00000519980.1_Missense_Mutation_p.K550N	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		TCTGCACGTTCTTCATCTGCA	0.627000													44	117					0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48190823	48190823	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr18:48190823G>C	ENST00000400384.2	+	2	1531	c.495G>C	c.(493-495)aaG>aaC	p.K165N	MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000588540.1_Missense_Mutation_p.K165N|MAPK4_ENST00000592595.1_Missense_Mutation_p.K165N|MAPK4_ENST00000587823.1_3'UTR	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	165	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TCGTGCTCAAGATTGGGGATT	0.562000													69	30					0	0	1	0	0
ACBD6	84320	broad.mit.edu	37	1	180471245	180471245	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:180471245G>T	ENST00000367595.3	-	1	844	c.157C>A	c.(157-159)Ctg>Atg	p.L53M		NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	53	ACB.					cytoplasm|nucleus	fatty-acyl-CoA binding		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						AGGCCTTGCAGGTGCGCGGCA	0.602000													32	10					6.50621e-10	7.11791e-10	1	1	0
AKAP13	11214	broad.mit.edu	37	15	86283474	86283474	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr15:86283474C>T	ENST00000394518.2	+	34	7674	c.7579C>T	c.(7579-7581)Cat>Tat	p.H2527Y	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.H2531Y|AKAP13_ENST00000394510.2_Missense_Mutation_p.H772Y	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2527	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GAGCGTTGTTCATCTCTACGA	0.468000													23	68					0	0	1	0	0
ZMYND11	10771	broad.mit.edu	37	10	294288	294288	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr10:294288G>A	ENST00000397962.3	+	13	1668	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	ZMYND11_ENST00000535374.1_Missense_Mutation_p.E209K|ZMYND11_ENST00000381607.4_Missense_Mutation_p.E320K|ZMYND11_ENST00000397959.3_Missense_Mutation_p.E329K|ZMYND11_ENST00000381584.1_Missense_Mutation_p.E397K|ZMYND11_ENST00000558098.2_Missense_Mutation_p.E414K|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000381604.4_Missense_Mutation_p.E374K|ZMYND11_ENST00000381602.4_Missense_Mutation_p.E374K|ZMYND11_ENST00000403354.1_Missense_Mutation_p.E334K|ZMYND11_ENST00000602682.1_Missense_Mutation_p.E329K|ZMYND11_ENST00000545619.1_Missense_Mutation_p.E294K|ZMYND11_ENST00000309776.4_Missense_Mutation_p.E374K|ZMYND11_ENST00000402736.1_Missense_Mutation_p.E383K|ZMYND11_ENST00000509513.2_Missense_Mutation_p.E413K|ZMYND11_ENST00000381591.1_Missense_Mutation_p.E414K			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	374	Interaction with human adenovirus E1A.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ACCAGAGCCTGAAACAGAAGC	0.448000													51	129					0	0	1	0	0
GOLGA8IP	283796	broad.mit.edu	37	15	23261950	23261950	+	Silent	SNP	A	A	G	rs11857654	by1000genomes	TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr15:23261950A>G	ENST00000450802.3	+	12	1160	c.1062A>G	c.(1060-1062)gaA>gaG	p.E354E																								GGAAGCAGGAAGAGAGGATTC	0.597000													14	29					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233275516	233275516	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:233275516C>G	ENST00000258229.8	-	20	3837	c.3603G>C	c.(3601-3603)ttG>ttC	p.L1201F	PCNXL2_ENST00000488780.2_Missense_Mutation_p.L334F|PCNXL2_ENST00000520463.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1201						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)				TGAGGGCATTCAAAATTAGCG	0.358000													6	21					0	0	1	0	0
ZNF510	22869	broad.mit.edu	37	9	99521950	99521950	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr9:99521950T>A	ENST00000375231.1	-	6	1812	c.1162A>T	c.(1162-1164)Acg>Tcg	p.T388S	ZNF510_ENST00000223428.4_Missense_Mutation_p.T388S			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGAACCGACGTCTGGTAGGAT	0.393000													82	445					0	0	1	0	0
INSM1	3642	broad.mit.edu	37	20	20349259	20349259	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr20:20349259C>G	ENST00000310227.1	+	1	495	c.348C>G	c.(346-348)ttC>ttG	p.F116L		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	116	Ala/Gly/Pro-rich.				endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		ACAAGTACTTCGAACGCAGCT	0.751000													7	10					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958285	121958285	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr4:121958285A>C	ENST00000379692.4	-	4	1367	c.841T>G	c.(841-843)Tac>Gac	p.Y281D	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	281	Fibronectin type-III 1.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						GGCCTGGAGTAGACATGACGC	0.458000													20	85					0	0	1	0	0
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139060879	139060879	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:139060879C>T	ENST00000354926.4	+	2	487	c.133C>T	c.(133-135)Cct>Tct	p.P45S	LUC7L2_ENST00000541515.3_Missense_Mutation_p.P111S|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.P42S|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.P44S	NM_016019.3	NP_057103.2																					CAACTGTTGTCCTCATGATGT	0.338000													23	67					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111744814	111744814	+	Silent	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr12:111744814C>T	ENST00000261726.6	+	11	1102	c.948C>T	c.(946-948)gaC>gaT	p.D316D		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	316						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGCTGAAGGACGTGCAGCACC	0.647000													24	66					0	0	1	0	0
BSCL2	26580	broad.mit.edu	37	11	62457910	62457910	+	Silent	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:62457910G>A	ENST00000433053.1	-	12	1874	c.1318C>T	c.(1318-1320)Cta>Tta	p.L440L	BSCL2_ENST00000278893.7_3'UTR|BSCL2_ENST00000360796.5_Silent_p.L440L|BSCL2_ENST00000405837.1_Silent_p.L442L|BSCL2_ENST00000421906.1_Silent_p.L376L|BSCL2_ENST00000403550.1_Silent_p.L376L|BSCL2_ENST00000407022.3_Silent_p.L376L|RP11-831H9.16_ENST00000403734.2_3'UTR			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	376					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						AGAGTCTCTAGGACAGGGGCA	0.607000													22	80					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5413746	5413746	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:5413746C>T	ENST00000399537.4	-	10	3517	c.3169G>A	c.(3169-3171)Gag>Aag	p.E1057K	TNRC18_ENST00000430969.1_Missense_Mutation_p.E1057K			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1057	Pro-rich.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCTTTCTTCTCGACCACATTC	0.677000													3	40					0	0	1	0	0
TDO2	6999	broad.mit.edu	37	4	156825277	156825277	+	Splice_Site	SNP	T	T	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr4:156825277T>C	ENST00000536354.2	+	2	205		c.e2+2			NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase						tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	TACCTGCATGTAAGTGGCAGG	0.423000													24	33					0	0	1	0	0
IL37	27178	broad.mit.edu	37	2	113675313	113675313	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr2:113675313G>C	ENST00000263326.3	+	4	409	c.367G>C	c.(367-369)Gac>Cac	p.D123H	IL37_ENST00000349806.3_Missense_Mutation_p.D62H|IL37_ENST00000311328.2_Missense_Mutation_p.D97H|IL37_ENST00000352179.3_Missense_Mutation_p.D102H|IL37_ENST00000353225.3_Missense_Mutation_p.D83H	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	123					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						TCTCTACTGTGACAAGGATAA	0.488000													47	145					0	0	1	0	0
C12orf60	144608	broad.mit.edu	37	12	14976229	14976229	+	Silent	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr12:14976229G>A	ENST00000330828.2	+	2	564	c.360G>A	c.(358-360)acG>acA	p.T120T	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	120										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						GTGCCCATACGCCAGTCATCA	0.428000													45	326					0	0	1	0	0
TTC25	83538	broad.mit.edu	37	17	40101509	40101509	+	RNA	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr17:40101509C>G	ENST00000591658.1	+	0	1213							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TTCCCCACCTCCATGGTTAGA	0.438000													2	6					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29161578	29161578	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr17:29161578G>A	ENST00000321990.4	+	2	857	c.479G>A	c.(478-480)cGt>cAt	p.R160H	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	160					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCTGTTTTACGTTACAAGAAA	0.313000													69	199					0	0	1	0	0
REXO2	25996	broad.mit.edu	37	11	114314649	114314649	+	Silent	SNP	C	C	T	rs151260750		TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:114314649C>T	ENST00000265881.5	+	3	446	c.303C>T	c.(301-303)caC>caT	p.H101H	REXO2_ENST00000539754.1_Silent_p.H101H|RP11-212D19.4_ENST00000544347.1_3'UTR|REXO2_ENST00000539275.1_Intron	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN	RNA exonuclease 2	101	Exonuclease.				nucleotide metabolic process	mitochondrion|nucleus	3'-5' exonuclease activity|nucleic acid binding			cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		AGGAGCATCACGGGAAGGTAA	0.458000													4	9					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83643635	83643635	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:83643635C>T	ENST00000265362.3	-	7	1014	c.700G>A	c.(700-702)Gag>Aag	p.E234K	SEMA3A_ENST00000436949.1_Missense_Mutation_p.E234K	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	234	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TTGTCACTCTCTGAGATGAGG	0.368000													21	60					0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107288872	107288872	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr9:107288872G>T	ENST00000277216.3	-	1	618	c.619C>A	c.(619-621)Cta>Ata	p.L207I		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GGAAGAACTAGGAAAGCAATA	0.383000													64	137					1.48873e-21	1.71673e-21	1	1	0
CEP135	9662	broad.mit.edu	37	4	56830566	56830566	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr4:56830566C>G	ENST00000257287.4	+	7	950	c.826C>G	c.(826-828)Cag>Gag	p.Q276E		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	276					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TTTAAATATTCAGGTAATGGC	0.348000													14	32					0	0	1	0	0
OSCP1	127700	broad.mit.edu	37	1	36904426	36904426	+	Silent	SNP	G	G	A	rs139567315	byFrequency	TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:36904426G>A	ENST00000356637.5	-	3	291	c.228C>T	c.(226-228)gcC>gcT	p.A76A	OSCP1_ENST00000315643.9_Silent_p.A76A|OSCP1_ENST00000235532.5_Silent_p.A66A|OSCP1_ENST00000433045.2_Silent_p.A21A|OSCP1_ENST00000354267.3_Silent_p.A66A			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	76					transport	basal plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						CAGTCCTCAGGGCCTTCTTGG	0.473000													28	63					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102504839	102504839	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr14:102504839C>T	ENST00000360184.4	+	58	11115	c.10951C>T	c.(10951-10953)Cgt>Tgt	p.R3651C	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3651	AAA 5 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GGTGCTGAACCGTGAAGTGCG	0.547000													17	46					0	0	1	0	0
NLGN2	57555	broad.mit.edu	37	17	7320707	7320707	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr17:7320707C>A	ENST00000302926.2	+	7	2170	c.2097C>A	c.(2095-2097)taC>taA	p.Y699*	NLGN2_ENST00000575301.1_Nonsense_Mutation_p.Y699*	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	699					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CCCTCTACTACAAGCGGGACC	0.711000													3	22					0.0215528	0.0218949	1	1	0
TRBC2	28638	broad.mit.edu	37	7	142499026	142499026	+	RNA	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:142499026C>T	ENST00000466254.1	+	0	302																											TCCAGTTCTACGGGCTCTCGG	0.627000													32	159					0	0	1	0	0
NDC1	55706	broad.mit.edu	37	1	54275387	54275387	+	Missense_Mutation	SNP	T	T	C	rs140272518		TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:54275387T>C	ENST00000371429.3	-	7	1334	c.736A>G	c.(736-738)Atg>Gtg	p.M246V	NDC1_ENST00000540001.1_Missense_Mutation_p.M246V|NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000234725.8_Missense_Mutation_p.M131V	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		TGAAGGTTCATAGCAGTGCTA	0.308000													45	44					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	39996588	39996588	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr22:39996588G>T	ENST00000336649.4	+	5	412	c.412G>T	c.(412-414)Ggg>Tgg	p.G138W	CACNA1I_ENST00000400164.3_Missense_Mutation_p.G138W|CACNA1I_ENST00000402142.3_Missense_Mutation_p.G138W|CACNA1I_ENST00000404898.1_Missense_Mutation_p.G138W|CACNA1I_ENST00000401624.1_Missense_Mutation_p.G138W|CACNA1I_ENST00000407673.1_Missense_Mutation_p.G138W			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	138					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	p.G138R(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGTGGCCCTGGGGATTTTTGG	0.562000													15	15					7.93312e-07	8.39206e-07	1	1	0
COL6A6	131873	broad.mit.edu	37	3	130300633	130300633	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr3:130300633A>G	ENST00000358511.6	+	8	3807	c.3776A>G	c.(3775-3777)gAa>gGa	p.E1259G	COL6A6_ENST00000453409.2_Missense_Mutation_p.E1259G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1259	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATCTACAGTGAAAACATACTG	0.403000													54	207					0	0	1	0	0
MRFAP1L1	114932	broad.mit.edu	37	4	6711285	6711285	+	Silent	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr4:6711285G>A	ENST00000320848.6	-	1	322	c.72C>T	c.(70-72)ttC>ttT	p.F24F		NM_203462.2	NP_982287.1	Q96HT8	MR1L1_HUMAN	Morf4 family associated protein 1-like 1	24																	GGAACTGCTCGAAATCCTCCT	0.632000													29	51					0	0	1	0	0
IRAK4	51135	broad.mit.edu	37	12	44177513	44177513	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr12:44177513G>T	ENST00000431837.1	+	9	1110	c.802G>T	c.(802-804)Gaa>Taa	p.E268*	IRAK4_ENST00000551736.1_Nonsense_Mutation_p.E392*|IRAK4_ENST00000448290.2_Nonsense_Mutation_p.E392*|IRAK4_ENST00000440781.2_Nonsense_Mutation_p.E268*	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	392	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TGAACACCGTGAACCTCAGTT	0.303000													12	20					0.000151284	0.000157434	1	1	0
SDHAP1	255812	broad.mit.edu	37	3	195711590	195711590	+	RNA	SNP	G	G	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr3:195711590G>C	ENST00000427841.1	-	0	357					NR_003264.2																						ATGTTCCCCAGAGCAGCATTG	0.567000													17	97					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292770	102292770	+	RNA	SNP	C	C	T	rs149751844	by1000genomes	TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr15:102292770C>T	ENST00000561463.1	+	0	816																											AGCGGCGCGACGAGATGCTGC	0.597000													4	28					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150390094	150390094	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:150390094T>A	ENST00000401000.4	+	2	293	c.228T>A	c.(226-228)aaT>aaA	p.N76K	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.N76K|RPRD2_ENST00000369067.3_Missense_Mutation_p.N76K|RPRD2_ENST00000539519.1_Missense_Mutation_p.N76K			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	76	CID.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ACCGTTTGAATCTCTTTTACC	0.363000													81	207					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7239538	7239538	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr10:7239538G>A	ENST00000361972.4	-	15	1760	c.1670C>T	c.(1669-1671)cCg>cTg	p.P557L	SFMBT2_ENST00000397167.1_Missense_Mutation_p.P557L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	557					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GCATTTGCCCGGTCCCACCGA	0.478000													25	90					0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	988626	988626	+	Silent	SNP	A	A	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:988626A>T	ENST00000448903.2	+	10	1347	c.1206A>T	c.(1204-1206)ccA>ccT	p.P402P	AP2A2_ENST00000332231.5_Silent_p.P403P|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	402					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCAACGCCCCACAGATCGTGG	0.607000													43	112					0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	33963460	33963460	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr17:33963460G>A	ENST00000262325.7	+	10	1809	c.1256G>A	c.(1255-1257)cGc>cAc	p.R419H	AP2B1_ENST00000538556.1_Missense_Mutation_p.R362H|AP2B1_ENST00000592545.1_Missense_Mutation_p.R381H|AP2B1_ENST00000589344.1_Missense_Mutation_p.R419H|AP2B1_ENST00000537622.2_Missense_Mutation_p.R419H|AP2B1_ENST00000312678.8_Missense_Mutation_p.R419H|AP2B1_ENST00000545922.2_3'UTR	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	419					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GACATCTTCCGCAAATACCCC	0.398000													9	30					0	0	1	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24988544	24988544	+	Silent	SNP	T	T	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr16:24988544T>G	ENST00000289968.6	-	3	259	c.190A>C	c.(190-192)Agg>Cgg	p.R64R	ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000303665.5_Silent_p.R64R|ARHGAP17_ENST00000441763.2_Silent_p.R64R	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	64	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		ACGTGTCTCCTCTCGGCATCG	0.547000													38	42					0	0	1	0	0
CHST11	50515	broad.mit.edu	37	12	105150982	105150982	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr12:105150982G>A	ENST00000303694.5	+	3	899	c.460G>A	c.(460-462)Gag>Aag	p.E154K	CHST11_ENST00000549260.1_Missense_Mutation_p.E149K	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	154					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						CCCGGCCAACGAGGCACACGT	0.587000													20	74					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50464073	50464073	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr2:50464073G>C	ENST00000404971.1	-	19	4859	c.3520C>G	c.(3520-3522)Caa>Gaa	p.Q1174E	NRXN1_ENST00000401669.2_Missense_Mutation_p.Q1134E|NRXN1_ENST00000405472.3_Missense_Mutation_p.Q1126E|NRXN1_ENST00000402717.3_Missense_Mutation_p.Q1126E|NRXN1_ENST00000401710.1_Missense_Mutation_p.Q152E|NRXN1_ENST00000342183.5_Missense_Mutation_p.Q99E|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.Q1134E|NRXN1_ENST00000406316.2_Missense_Mutation_p.Q1134E	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1134	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TACGTGATTTGTCCACCACCT	0.448000													40	106					0	0	1	0	0
PAGE2	203569	broad.mit.edu	37	X	55117016	55117016	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chrX:55117016G>A	ENST00000374968.4	+	3	270	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	PAGE2_ENST00000374965.1_Intron	NM_207339.2	NP_997222.1			P antigen family, member 2 (prostate associated)											endometrium(1)|large_intestine(2)|lung(1)|ovary(2)	6						TGGGGAGATTGAAAATCAAGC	0.443000													9	11					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965298	88965298	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:88965298C>T	ENST00000333190.4	+	4	3611	c.3002C>T	c.(3001-3003)aCg>aTg	p.T1001M		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1001						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CCAAGGACTACGGAGAAAGAC	0.368000										HNSCC(36;0.09)			29	58					0	0	1	0	0
ESRRA	2101	broad.mit.edu	37	11	64074712	64074712	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:64074712G>A	ENST00000405666.1	+	2	295	c.61G>A	c.(61-63)Gac>Aac	p.D21N	ESRRA_ENST00000406310.1_Missense_Mutation_p.D21N|ESRRA_ENST00000000442.6_Missense_Mutation_p.D21N			P11474	ERR1_HUMAN	estrogen-related receptor alpha	21	Repressor domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GGCCAGCCCTGACAGTCCAAA	0.642000													21	55					0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68696768	68696768	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:68696768G>T	ENST00000255078.3	+	8	1289	c.1178G>T	c.(1177-1179)aGa>aTa	p.R393I		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	393	Leu-rich.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGAAGGCCAGAAAGTGCATC	0.627000													26	106					4.87955e-14	5.43116e-14	1	1	0
CREB3L2	64764	broad.mit.edu	37	7	137686374	137686374	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:137686374G>C	ENST00000330387.6	-	1	429	c.78C>G	c.(76-78)gaC>gaG	p.D26E	CREB3L2_ENST00000452463.1_Missense_Mutation_p.D26E|CREB3L2_ENST00000468127.1_5'UTR|CREB3L2_ENST00000456390.1_Missense_Mutation_p.D26E	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	26					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GGGCCTCGCCGTCCCCGGGCT	0.706000			T	FUS	fibromyxoid sarcoma								14	39					0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87460450	87460450	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr8:87460450T>A	ENST00000517970.1	+	19	2379	c.2072T>A	c.(2071-2073)cTt>cAt	p.L691H	WWP1_ENST00000265428.4_Missense_Mutation_p.L691H|WWP1_ENST00000341922.2_Missense_Mutation_p.L561H|WWP1_ENST00000349423.2_Missense_Mutation_p.L473H	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	691	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AGTAAAAAACTTACTATTAAG	0.274000													17	104					0	0	1	0	0
NANS	54187	broad.mit.edu	37	9	100845233	100845233	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr9:100845233G>A	ENST00000210444.5	+	6	1046	c.976G>A	c.(976-978)Gac>Aac	p.D326N	NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000375098.3_Intron|TRIM14_ENST00000478530.1_Intron	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	326	AFP-like.				lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				TCCTCCTGAAGACATCTTTAA	0.458000													24	125					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75279642	75279642	+	Missense_Mutation	SNP	C	C	T	rs143471997	by1000genomes	TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr10:75279642C>T	ENST00000339859.4	-	18	2691	c.2591G>A	c.(2590-2592)cGc>cAc	p.R864H	USP54_ENST00000408019.1_Missense_Mutation_p.R864H|USP54_ENST00000428547.1_Missense_Mutation_p.R714H|USP54_ENST00000394811.2_5'UTR|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000422491.2_Missense_Mutation_p.R46H|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000497106.1_Intron			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	864					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CTGCTGCATGCGATCCTGCAG	0.577000													3	40					0	0	1	0	0
BCAP29	55973	broad.mit.edu	37	7	107224424	107224424	+	Silent	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:107224424C>T	ENST00000379119.2	+	2	204	c.190C>T	c.(190-192)Cta>Tta	p.L64L	BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000379117.2_Silent_p.L64L|BCAP29_ENST00000005259.4_Silent_p.L64L|BCAP29_ENST00000445771.2_Silent_p.L64L|BCAP29_ENST00000465919.1_5'UTR	NM_001008405.2	NP_001008405.1	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	64					apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						TGTTCTATTTCTAGGTAAGTA	0.294000													23	67					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578500	7578500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr17:7578500G>A	ENST00000420246.2	-	5	562	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	TP53_ENST00000455263.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q144*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q144*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	144	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q144*(36)|p.0?(8)|p.Q144fs*25(3)|p.Q144K(2)|p.Q12*(2)|p.Q144fs*26(2)|p.Q51*(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q51fs*25(1)|p.Q144del(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.Q12fs*25(1)|p.V143_S149del(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)		ACCCACAGCTGCACAGGGCAG	0.597000		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)			19	62					0	0	1	0	0
HIST1H2BK	85236	broad.mit.edu	37	6	27114408	27114408	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr6:27114408G>C	ENST00000396891.4	-	1	211	c.170C>G	c.(169-171)tCt>tGt	p.S57C	HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.S57C	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	57					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CATGGCCTTAGAGGAGATGCC	0.577000													69	414					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085379	9085379	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr19:9085379G>T	ENST00000397910.4	-	1	6639	c.6436C>A	c.(6436-6438)Ctt>Att	p.L2146I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2146	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L2146V(2)		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						GCCATTGGAAGAGGGACTTCA	0.498000													30	94					1.2476e-16	1.40081e-16	1	1	0
STEAP1B	256227	broad.mit.edu	37	7	22534408	22534408	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:22534408C>A	ENST00000404369.4	-	2	482	c.67G>T	c.(67-69)Gaa>Taa	p.E23*	STEAP1B_ENST00000406890.2_Nonsense_Mutation_p.E23*	NM_001164460.1	NP_001157932.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	23						integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			endometrium(1)|kidney(1)|lung(2)	4						TCGTTGTCTTCTAAATTTCTC	0.284000													9	71					0.000274275	0.000280858	1	1	0
UNK	85451	broad.mit.edu	37	17	73809222	73809222	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr17:73809222G>A	ENST00000293218.3	+	6	914	c.914G>A	c.(913-915)cGc>cAc	p.R305H	UNK_ENST00000589666.1_Missense_Mutation_p.R229H			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	229							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGCTGTGCCGCCAAGGCTAT	0.637000													6	7					0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152882772	152882801	+	In_Frame_Del	DEL	GAGCAGCAGGAGGGACAGCTGAAGCACCCG	GAGCAGCAGGAGGGACAGCTGAAGCACCCG	-	rs61731348	byFrequency	TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:152882772_152882801delGAGCAGCAGGAGGGACAGCTGAAGCACCCG	ENST00000368764.3	+	2	563_592	c.499_528delGAGCAGCAGGAGGGACAGCTGAAGCACCCG	c.(499-528)del	p.EQQEGQLKHP167del	IVL_ENST00000392667.2_In_Frame_Del_p.EQQEGQLKHP21del			P07476	INVO_HUMAN	involucrin	167	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.G171V(2)|p.P176P(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gaagcacctagagcagcaggagggacagctgaagcacccggagcagcagg	0.617													11	8	---	---	---	---					
LINC01237	101927289	broad.mit.edu	37	2	242903132	242903135	+	RNA	DEL	AAGG	AAGG	-			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr2:242903132_242903135delAAGG	ENST00000430555.1	+	0	329				AC131097.3_ENST00000457686.1_RNA|AC131097.3_ENST00000439601.1_RNA|AC131097.3_ENST00000415434.1_RNA																							gcaagcaagcaaggaaggaaggaa	0.426													2	4	---	---	---	---					
OTOP1	133060	broad.mit.edu	37	4	4228274	4228282	+	In_Frame_Del	DEL	CCACAGCAG	CCACAGCAG	-	rs111245977		TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr4:4228274_4228282delCCACAGCAG	ENST00000296358.4	-	1	334_342	c.310_318delCTGCTGTGG	c.(310-318)del	p.LLW104del		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	104					biomineral tissue development	extracellular space|integral to membrane		p.L104_W106delLLW(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCACAGCATCCACAGCAGCTGCAGCAGC	0.727													8	17	---	---	---	---					
YTHDC1	91746	broad.mit.edu	37	4	69195943	69195944	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr4:69195943_69195944delAC	ENST00000344157.4	-	8	1542_1543	c.1207_1208delGT	c.(1207-1209)cfs	p.V403fs	YTHDC1_ENST00000579690.1_Frame_Shift_Del_p.V403fs|YTHDC1_ENST00000355665.3_Frame_Shift_Del_p.V385fs	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	403	YTH.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ACTCTCTCTGACAGAAAATATT	0.277													8	41	---	---	---	---					
FYB	2533	broad.mit.edu	37	5	39139348	39139348	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr5:39139348delC	ENST00000351578.6	-	5	1536	c.1346delG	c.(1345-1347)gafs	p.G449fs	FYB_ENST00000540520.1_Frame_Shift_Del_p.G459fs|FYB_ENST00000512982.1_Frame_Shift_Del_p.G449fs|FYB_ENST00000515010.1_Frame_Shift_Del_p.G449fs|FYB_ENST00000505428.1_Frame_Shift_Del_p.G449fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	449					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			ATCTAGATTTCCAGCACCTAA	0.244													2	4	---	---	---	---					
PSMB9	5698	broad.mit.edu	37	6	32822031	32822031	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr6:32822031delG	ENST00000374859.2	+	1	94	c.25delG	c.(25-27)ggfs	p.G9fs	PSMB9_ENST00000453265.2_Frame_Shift_Del_p.G9fs|PSMB9_ENST00000395330.1_Intron	NM_002800.4	NP_002791.1	P28065	PSB9_HUMAN	proteasome (prosome, macropain) subunit, beta type, 9	9			G -> E (in dbSNP:rs35100697).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			large_intestine(4)|lung(4)|skin(1)	9						AGCACCAACCGGGGACTTACC	0.692													2	4	---	---	---	---					
COL1A2	1278	broad.mit.edu	37	7	94027705	94027705	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:94027705delA	ENST00000297268.6	+	3	564	c.93delA	c.(91-93)agfs	p.R31fs		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	31					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AAACTGTAAGAAAGGTAAGAG	0.234										HNSCC(75;0.22)			2	4	---	---	---	---					
DFNB31	25861	broad.mit.edu	37	9	117185698	117185699	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr9:117185698_117185699insC	ENST00000362057.3	-	7	1689_1690	c.1521_1522insG	c.(1519-1524)caccccfs	p.H507fs	DFNB31_ENST00000374059.3_Frame_Shift_Ins_p.H156fs|DFNB31_ENST00000265134.6_Frame_Shift_Ins_p.H124fs	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	507					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGCCTGGGGGCTGCCGCGCCT	0.639													46	266	---	---	---	---					
RSF1	51773	broad.mit.edu	37	11	77394814	77394814	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:77394814delT	ENST00000308488.6	-	11	3308	c.3006delA	c.(3004-3006)aafs	p.K1002fs	RSF1_ENST00000360355.2_Frame_Shift_Del_p.K971fs|RSF1_ENST00000480887.1_Frame_Shift_Del_p.K750fs			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1002					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTGCTTTGGATTTTTTTGAAT	0.323													28	88	---	---	---	---					
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	-	rs66529359	by1000genomes	TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENST00000252244.3	-	9	1714_1734	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tac>ta	p.YGSGGSSY552del		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688													3	3	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110																											AGTTCATCTTCTCAGAGCTGCTG	0.576													2	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578192	7578193	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr17:7578192_7578193delGG	ENST00000420246.2	-	6	788_789	c.656_657delCC	c.(655-657)cfs	p.P219fs	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.P219fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P219fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P219fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P219fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P219fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	219	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> C (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (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.?(11)|p.0?(8)|p.P219P(4)|p.P219L(3)|p.D208fs*1(1)|p.V216fs*28(1)|p.Y220_P223delYEPP(1)|p.V218fs*26(1)|p.P219R(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.P219C(1)|p.V216_Y220delVVVPY(1)|p.P219H(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)		GCGGCTCATAGGGCACCACCAC	0.545		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)			23	22	---	---	---	---					
KRTAP10-1	386677	broad.mit.edu	37	21	45959918	45959932	+	In_Frame_Del	DEL	GGGGCGCAGCAGCTG	GGGGCGCAGCAGCTG	-	rs233320	by1000genomes	TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr21:45959918_45959932delGGGGCGCAGCAGCTG	ENST00000400375.1	-	1	146_160	c.102_116delCAGCTGCTGCGCCCC	c.(100-117)ctg>ct	p.LSCCAP34del	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	34	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GCAGGGGGCCGGGGCGCAGCAGCTGAGGGCGCAGC	0.702													11	130	---	---	---	---