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
ABI2	10152	broad.mit.edu	37	2	204259536	204259536	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr2:204259536C>G	ENST00000295851.4	+	6	988	c.692C>G	c.(691-693)aCa>aGa	p.T231R	ABI2_ENST00000261016.6_Missense_Mutation_p.T180R|RAPH1_ENST00000457812.1_3'UTR|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000261017.5_Missense_Mutation_p.T225R|ABI2_ENST00000430418.1_Intron|ABI2_ENST00000261018.7_Intron|ABI2_ENST00000424558.1_Missense_Mutation_p.T225R|ABI2_ENST00000422511.2_Missense_Mutation_p.T231R			Q9NYB9	ABI2_HUMAN	abl-interactor 2	231	Pro-rich.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						CCTGTGAGGACAGCTTCTGTG	0.468000													9	156					0	0	1	0	0
PSG8	0	broad.mit.edu	37	19	43268150	43268150	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:43268150G>T	ENST00000404209.4	-	2	444	c.348C>A	c.(346-348)gaC>gaA	p.D116E	PSG8_ENST00000401467.2_Missense_Mutation_p.D116E|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.D116E	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	116	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AGGATCCTGCGTCTTCCTGGG	0.428000													8	284					5.18039e-06	5.57136e-06	1	1	0
GALNT3	2591	broad.mit.edu	37	2	166605326	166605326	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr2:166605326G>T	ENST00000392701.3	-	11	2642	c.1867C>A	c.(1867-1869)Cca>Aca	p.P623T	GALNT3_ENST00000409882.1_Missense_Mutation_p.P361T	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	623	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						TTTTGGAGTGGATCTGATGGG	0.338000													6	78					2.0095e-06	2.2241e-06	1	1	0
OR8H2	390151	broad.mit.edu	37	11	55872628	55872628	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr11:55872628T>A	ENST00000313503.1	+	1	110	c.110T>A	c.(109-111)cTa>cAa	p.L37Q		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTGATATACCTAATTACTATG	0.413000										HNSCC(53;0.14)			11	312					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104030140	104030140	+	Missense_Mutation	SNP	C	C	G	rs150817909		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:104030140C>G	ENST00000265148.3	-	48	7920	c.7831G>C	c.(7831-7833)Gtg>Ctg	p.V2611L	CENPE_ENST00000380026.3_Missense_Mutation_p.V2490L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2611	Globular autoinhibitory domain (By similarity).				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GTTCCAGTCACTTTAGGAGAC	0.388000													9	147					0	0	1	0	0
FAM133B	257415	broad.mit.edu	37	7	92210853	92210853	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr7:92210853A>G	ENST00000438306.1	-	3	289	c.59T>C	c.(58-60)aTa>aCa	p.I20T	FAM133B_ENST00000427372.1_Missense_Mutation_p.I20T|FAM133B_ENST00000445716.1_Missense_Mutation_p.I30T	NM_001040057.1	NP_001035146.1	Q5BKY9	F133B_HUMAN	family with sequence similarity 133, member B	30										endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	4	all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATAATCCTGTATTGTTGGCCC	0.373000													3	50					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21508591	21508591	+	Silent	SNP	T	T	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr18:21508591T>A	ENST00000313654.9	+	64	8539	c.8298T>A	c.(8296-8298)ctT>ctA	p.L2766L	LAMA3_ENST00000269217.6_Silent_p.L1157L|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.L1101L|LAMA3_ENST00000399516.3_Silent_p.L2710L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2766					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CATTTCAGCTTGTGCGATCTG	0.418000													6	152					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105420979	105420979	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:105420979G>A	ENST00000264122.4	-	12	2239	c.1918C>T	c.(1918-1920)Cgg>Tgg	p.R640W	CBLB_ENST00000405772.1_Missense_Mutation_p.R640W|CBLB_ENST00000403724.1_Missense_Mutation_p.R640W|CBLB_ENST00000394027.3_Missense_Mutation_p.R662W	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	640	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CTGTGTTTCCGCATAAGCACT	0.473000			Mis S		AML								4	202					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169489863	169489863	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:169489863T>C	ENST00000367796.3	-	22	6304	c.6103A>G	c.(6103-6105)Aat>Gat	p.N2035D	F5_ENST00000367797.3_Missense_Mutation_p.N2030D			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2030	F5/8 type C 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCAAACTGATTCTCTTTTATT	0.358000													25	43					0	0	1	0	0
SDHAP1	0	broad.mit.edu	37	3	195698262	195698262	+	RNA	SNP	C	C	G	rs28503679	by1000genomes	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:195698262C>G	ENST00000427841.1	-	0	1610					NR_003264.2																						AATTTGTCAACATTCGTGACA	0.418000													4	122					0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629104	1629104	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr11:1629104C>T	ENST00000399685.1	-	1	589	c.512G>A	c.(511-513)tGt>tAt	p.C171Y		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	171	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		gcagggcttacagcagctgga	0.627000													6	640					0	0	1	0	0
PLCD1	5333	broad.mit.edu	37	3	38061842	38061842	+	Splice_Site	SNP	G	G	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:38061842G>T	ENST00000463876.1	-	2	452	c.97_splice	c.e2-1	p.G33_splice	PLCD1_ENST00000334661.4_Splice_Site_p.G12_splice	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	12	PH.|Substrate binding (By similarity).				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CATCCTGTAGGCCTGGGGATC	0.577000													4	68					0.0215528	0.0217435	1	1	0
KDM5D	8284	broad.mit.edu	37	Y	21894510	21894510	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chrY:21894510A>G	ENST00000541639.1	-	9	1339	c.1052T>C	c.(1051-1053)aTc>aCc	p.I351T	KDM5D_ENST00000317961.4_Missense_Mutation_p.I351T|KDM5D_ENST00000382806.2_Missense_Mutation_p.I294T	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	351					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	GCCTCTGGGGATTTCAGGAAG	0.453000													6	21					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38854673	38854673	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr6:38854673T>C	ENST00000359357.3	+	55	7969	c.7715T>C	c.(7714-7716)aTg>aCg	p.M2572T	DNAH8_ENST00000449981.2_Missense_Mutation_p.M2789T|DNAH8_ENST00000441566.1_Missense_Mutation_p.M2536T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATAGCAGCAATGATCCACCCT	0.398000													8	81					0	0	1	0	0
NR3C2	0	broad.mit.edu	37	4	149357481	149357481	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:149357481G>A	ENST00000355292.3	-	2	894	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	NR3C2_ENST00000342437.4_Missense_Mutation_p.R178C|NR3C2_ENST00000511528.1_Missense_Mutation_p.R178C|NR3C2_ENST00000512865.1_Missense_Mutation_p.R178C|NR3C2_ENST00000344721.4_Missense_Mutation_p.R178C|NR3C2_ENST00000358102.3_Missense_Mutation_p.R178C			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	178	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.R178C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ACAACGGCGCGCATGACGCCA	0.502000													5	145					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11572578	11572578	+	Splice_Site	SNP	G	G	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:11572578G>T	ENST00000262442.3	+	16	2996		c.e16+1		DNAH9_ENST00000454412.2_Splice_Site	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCACTATCAGGTACTGGAGCT	0.547000													6	131					0.00116845	0.00118931	1	1	0
EIF4G1	1981	broad.mit.edu	37	3	184039764	184039764	+	Silent	SNP	A	A	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:184039764A>G	ENST00000342981.4	+	9	1806	c.1392A>G	c.(1390-1392)gaA>gaG	p.E464E	EIF4G1_ENST00000414031.1_Silent_p.E424E|EIF4G1_ENST00000441154.1_Silent_p.E300E|EIF4G1_ENST00000352767.3_Silent_p.E471E|EIF4G1_ENST00000435046.2_Silent_p.E268E|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Silent_p.E424E|EIF4G1_ENST00000392537.2_Silent_p.E377E|EIF4G1_ENST00000346169.2_Silent_p.E464E|EIF4G1_ENST00000350481.5_Silent_p.E300E|EIF4G1_ENST00000424196.1_Silent_p.E471E|EIF4G1_ENST00000319274.6_Silent_p.E464E|EIF4G1_ENST00000382330.3_Silent_p.E471E|EIF4G1_ENST00000427845.1_Silent_p.E377E|EIF4G1_ENST00000434061.2_Silent_p.E268E	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	464	Poly-Glu.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			aagaagaggaagaaggagaag	0.552000													3	77					0	0	1	0	0
APP	351	broad.mit.edu	37	21	27284152	27284152	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr21:27284152C>T	ENST00000358918.3	-	14	2009	c.1810G>A	c.(1810-1812)Gtg>Atg	p.V604M	APP_ENST00000448388.2_Missense_Mutation_p.V494M|APP_ENST00000354192.3_Missense_Mutation_p.V473M|APP_ENST00000346798.3_Missense_Mutation_p.V604M|APP_ENST00000440126.3_Missense_Mutation_p.V580M|APP_ENST00000439274.2_Missense_Mutation_p.V548M|APP_ENST00000359726.3_Missense_Mutation_p.V548M|APP_ENST00000357903.3_Missense_Mutation_p.V585M|APP_ENST00000348990.5_Missense_Mutation_p.V529M	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	604					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				AGGAGCTCCACGGTGGTTTTC	0.502000													10	128					0	0	1	0	0
GJC2	57165	broad.mit.edu	37	1	228345674	228345674	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:228345674C>T	ENST00000366714.2	+	2	390	c.215C>T	c.(214-216)gCg>gTg	p.A72V		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	72					cell death	connexon complex|integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				GACGCCTTCGCGCCCCTGTCG	0.657000													9	23					0	0	1	0	0
NUDT21	11051	broad.mit.edu	37	16	56473619	56473619	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr16:56473619T>A	ENST00000300291.5	-	4	593	c.421A>T	c.(421-423)Att>Ttt	p.I141F		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	141	Necessary for RNA-binding.|Necessary for interactions with PAPOLA and PABPN1.|Nudix hydrolase.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						CAATCGTCAATGACCCAGTCT	0.418000													9	285					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr2:107049631C>T	ENST00000409886.3	-	16	2403	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	RGPD3_ENST00000304514.7_Silent_p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					intracellular transport		binding	p.A772A(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373000													8	557					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6650809	6650809	+	Splice_Site	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr11:6650809C>T	ENST00000299441.3	-	12	5447		c.e12-1			NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1						calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCGTTGGCCCCTGAGGAGGGG	0.562000													3	51					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155500201	155500201	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr6:155500201G>T	ENST00000461783.3	+	13	3825	c.2552G>T	c.(2551-2553)gGc>gTc	p.G851V	TIAM2_ENST00000360366.4_Missense_Mutation_p.G875V|TIAM2_ENST00000529824.2_Missense_Mutation_p.G851V|TIAM2_ENST00000456877.2_Missense_Mutation_p.G163V|TIAM2_ENST00000367174.2_Missense_Mutation_p.G227V|TIAM2_ENST00000528391.2_Missense_Mutation_p.G187V|TIAM2_ENST00000318981.5_Missense_Mutation_p.G851V|TIAM2_ENST00000456144.1_Missense_Mutation_p.G851V			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	851	RBD.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGCCATTATGGCCTACAGCTT	0.373000													24	55					1.64293e-13	1.83622e-13	1	1	0
MYLK	4638	broad.mit.edu	37	3	123512527	123512527	+	Silent	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:123512527C>T	ENST00000360772.3	-	5	540	c.162G>A	c.(160-162)ggG>ggA	p.G54G	MYLK_ENST00000346322.5_Silent_p.G54G|MYLK_ENST00000475616.1_Silent_p.G54G|MYLK_ENST00000359169.1_Silent_p.G54G|MYLK_ENST00000360304.3_Silent_p.G54G			Q15746	MYLK_HUMAN	myosin light chain kinase	54	Ig-like C2-type 1.				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)		TTCTTACCCGCCCTTCGAACT	0.592000													27	40					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs145089594	by1000genomes	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:45128685T>C	ENST00000575173.1	-	0	418																											TTCCAGGATATGGCTATACTG	0.303000													5	222					0	0	1	0	0
GLUD1P2	0	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr10:48968566A>G	ENST00000594520.1	+	0	723																											ACAGGATAACAAACTGGAAAA	0.318000													4	33					0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1389323	1389323	+	Missense_Mutation	SNP	G	G	A	rs71299249	byFrequency	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:1389323G>A	ENST00000324803.4	+	1	3984	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	342					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGGAGTGCCCGCCTGCTCACA	0.667000													8	528					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7046310	7046310	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr18:7046310A>T	ENST00000389658.3	-	6	918	c.825T>A	c.(823-825)caT>caA	p.H275Q		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	275	Laminin EGF-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCTACTAGCATGGCCATAGC	0.313000													4	81					0	0	1	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38349977	38349977	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:38349977G>T	ENST00000436615.3	+	15	1798	c.1308G>T	c.(1306-1308)caG>caT	p.Q436H	RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.Q491H|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.Q485H|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.Q436H	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	642	Ras-GEF.				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GCCAGTTTCAGGTCATCGACA	0.577000													3	67					2.56e-06	2.80615e-06	1	1	0
VIM	7431	broad.mit.edu	37	10	17276782	17276782	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr10:17276782T>C	ENST00000544301.1	+	6	1386	c.973T>C	c.(973-975)Tcc>Ccc	p.S325P	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000224237.5_Missense_Mutation_p.S325P	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	325	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACAGGTGCAGTCCCTCACCTG	0.532000													9	97					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14001063	14001063	+	Silent	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:14001063G>A	ENST00000454313.1	-	6	664	c.606C>T	c.(604-606)tcC>tcT	p.S202S	C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000586783.1_Silent_p.S202S|C19orf57_ENST00000346736.2_Silent_p.S202S			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	202					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)			TCTGTGAGGCGGACAACCCCG	0.647000													8	126					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								48	57					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26669404	26669404	+	Splice_Site	SNP	G	G	C			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr11:26669404G>C	ENST00000256737.3	+	24	3428		c.e24+1		ANO3_ENST00000531568.1_Splice_Site|ANO3_ENST00000537978.1_Splice_Site|ANO3_ENST00000525139.1_Splice_Site	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3							chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CAAGTGAAAAGTAAGGTTTAA	0.323000													23	45					0	0	1	0	0
RUFY2	55680	broad.mit.edu	37	10	70141155	70141155	+	Splice_Site	SNP	T	T	C			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr10:70141155T>C	ENST00000388768.2	-	11	1372	c.1044_splice	c.e11-1	p.D349_splice	RUFY2_ENST00000399200.2_Splice_Site_p.D280_splice|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000602465.1_Splice_Site_p.D314_splice|RUFY2_ENST00000454950.2_Splice_Site_p.D256_splice	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	363						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						ATTCTCTACATCCTGCAATTT	0.358000													70	78					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75296015	75296015	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr14:75296015A>G	ENST00000325680.7	+	19	6387	c.6263A>G	c.(6262-6264)gAt>gGt	p.D2088G	YLPM1_ENST00000552421.1_Missense_Mutation_p.D1382G	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1893					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GATGATTATGATACTCGTGCT	0.468000													3	52					0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172533496	172533496	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:172533496A>G	ENST00000417960.1	+	23	2884	c.2407A>G	c.(2407-2409)Aaa>Gaa	p.K803E	ECT2_ENST00000540509.1_Missense_Mutation_p.K835E|ECT2_ENST00000427830.1_Missense_Mutation_p.K804E|ECT2_ENST00000392692.3_Missense_Mutation_p.K835E|ECT2_ENST00000441497.2_Missense_Mutation_p.K804E|ECT2_ENST00000232458.5_Missense_Mutation_p.K804E	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	804					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAAGACTTCAAAAAAGGTGAG	0.299000													4	81					0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45666317	45666317	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr21:45666317A>C	ENST00000270172.3	-	12	1610	c.1127T>G	c.(1126-1128)tTc>tGc	p.F376C	DNMT3L_ENST00000418993.1_Missense_Mutation_p.F375C	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	375					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		AAAATACTTGAAATATTCTCT	0.448000													10	116					0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440334	124440334	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr11:124440334T>G	ENST00000284287.3	+	1	442	c.370T>G	c.(370-372)Ttt>Gtt	p.F124V		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CTTCCTTGTTTTTGTCATTGC	0.463000													19	64					0	0	1	0	0
ADRB1	153	broad.mit.edu	37	10	115804960	115804960	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr10:115804960C>T	ENST00000369295.2	+	1	1155	c.1069C>T	c.(1069-1071)Cgc>Tgc	p.R357C		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	357					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	GGTGCCCGACCGCCTCTTCGT	0.627000													3	31					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186097245	186097245	+	Silent	SNP	C	C	T	rs150757082	byFrequency	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:186097245C>T	ENST00000271588.4	+	83	12955	c.12726C>T	c.(12724-12726)aaC>aaT	p.N4242N	HMCN1_ENST00000367492.2_Silent_p.N4242N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4242	Ig-like C2-type 41.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTGTTGCTAACAATGCTGCAG	0.368000													28	77					0	0	1	0	0
CST5	1473	broad.mit.edu	37	20	23860261	23860261	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr20:23860261G>C	ENST00000304710.4	-	1	126	c.53C>G	c.(52-54)gCc>gGc	p.A18G		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	18						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						CCCGGCCACGGCCACCATCAA	0.592000													5	96					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48703623	48703623	+	Silent	SNP	A	A	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:48703623A>G	ENST00000352832.5	+	34	6636	c.6264A>G	c.(6262-6264)ttA>ttG	p.L2088L	CACNA1G_ENST00000515411.1_Silent_p.L2152L|CACNA1G_ENST00000515165.1_Silent_p.L2122L|CACNA1G_ENST00000514717.1_Silent_p.L2065L|CACNA1G_ENST00000514181.1_Silent_p.L2097L|CACNA1G_ENST00000510115.1_Silent_p.L2136L|CACNA1G_ENST00000514079.1_Silent_p.L2129L|CACNA1G_ENST00000513689.2_Silent_p.L2125L|CACNA1G_ENST00000502264.1_Silent_p.L2144L|CACNA1G_ENST00000354983.4_Silent_p.L2181L|CACNA1G_ENST00000442258.2_Silent_p.L2081L|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000510366.1_Silent_p.L2070L|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000507510.2_Silent_p.L2170L|CACNA1G_ENST00000429973.2_Silent_p.L2104L|CACNA1G_ENST00000507336.1_Silent_p.L2204L|CACNA1G_ENST00000360761.4_Silent_p.L2099L|CACNA1G_ENST00000507609.1_Silent_p.L2115L|CACNA1G_ENST00000359106.5_Silent_p.L2215L|CACNA1G_ENST00000503485.1_Silent_p.L2088L|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000513964.1_Silent_p.L2077L|CACNA1G_ENST00000515765.1_Silent_p.L2159L|CACNA1G_ENST00000512389.1_Silent_p.L2111L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2215					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAAGCAGCTTAGAGTTGGACA	0.642000											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	42					0	0	1	0	0
S100A11	6282	broad.mit.edu	37	1	152006246	152006246	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:152006246G>A	ENST00000271638.2	-	2	153	c.34C>T	c.(34-36)Cgg>Tgg	p.R12W	S100A11_ENST00000478109.1_5'UTR|NBPF18P_ENST00000432386.1_RNA	NM_005620.1	NP_005611.1	P31949	S10AB_HUMAN	S100 calcium binding protein A11	12					negative regulation of cell proliferation|negative regulation of DNA replication|signal transduction	cytoplasm|nucleus|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding			large_intestine(1)|lung(1)|prostate(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCGATGCACCGCTCAGTCTCT	0.458000													4	101					0	0	1	0	0
OR7A5	26659	broad.mit.edu	37	19	14938560	14938560	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:14938560C>T	ENST00000322301.3	-	2	581	c.494G>A	c.(493-495)cGg>cAg	p.R165Q	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.R165Q			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GAAGGACAGCCGTACTACCAT	0.443000													26	25					0	0	1	0	0
CCDC122	160857	broad.mit.edu	37	13	44433897	44433897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr13:44433897G>A	ENST00000444614.3	-	5	724	c.466C>T	c.(466-468)Cga>Tga	p.R156*	CCDC122_ENST00000476570.2_5'UTR|CCDC122_ENST00000281508.3_Nonsense_Mutation_p.R156*	NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	156										endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		ACAAAATCTCGCTTTTCATGG	0.318000													11	170					0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:12501446T>C	ENST00000419318.1	-	4	2419	c.1670A>G	c.(1669-1671)gAa>gGa	p.E557G	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G			Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413000													4	123					0	0	1	0	0
TBXA2R	0	broad.mit.edu	37	19	3600596	3600596	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:3600596G>A	ENST00000375190.4	-	2	430	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W	TBXA2R_ENST00000411851.3_Missense_Mutation_p.R13W|TBXA2R_ENST00000589966.1_Missense_Mutation_p.R13W	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	13					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	TTTGTGGGCCGGAAACAGGGC	0.667000													20	19					0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30884915	30884915	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr6:30884915C>T	ENST00000321897.5	+	8	1419	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	VARS2_ENST00000416670.2_Missense_Mutation_p.R263W|VARS2_ENST00000542001.1_Missense_Mutation_p.R123W|VARS2_ENST00000541562.1_Missense_Mutation_p.R293W			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	263					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	p.R263W(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						AGCTTTTGTGCGGCTCTACAA	0.557000													4	146					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973																											CTAGGTAAAGTGGGGAAGCAG	0.483000													4	196					0	0	1	0	0
FAM69B	138311	broad.mit.edu	37	9	139612118	139612118	+	Silent	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr9:139612118G>A	ENST00000371692.4	+	2	249	c.153G>A	c.(151-153)tcG>tcA	p.S51S		NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	51						endoplasmic reticulum membrane|integral to membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		TGCACTACTCGTCCTACTCGG	0.657000													23	13					0	0	1	0	0
ADAM21P1	0	broad.mit.edu	37	14	70713472	70713472	+	RNA	SNP	T	T	C			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr14:70713472T>C	ENST00000530196.1	-	0	1046					NR_003951.1																						TACTTATAAGTGAATTTTTTA	0.388000													8	82					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	156					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32705839	32705839	+	Silent	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr13:32705839G>A	ENST00000380250.3	+	8	1243	c.747G>A	c.(745-747)gcG>gcA	p.A249A		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AATTTATGGCGGAGCTAAAAG	0.383000													50	40					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130791643	130791643	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr5:130791643T>C	ENST00000509018.1	-	20	3132	c.2927A>G	c.(2926-2928)tAc>tGc	p.Y976C	RAPGEF6_ENST00000512052.1_Missense_Mutation_p.Y691C|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.Y981C|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.Y976C|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.Y976C|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.Y976C|FNIP1_ENST00000514667.1_Missense_Mutation_p.Y1026C	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	976	Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATGTTTCTCGTATTTGCTTGG	0.363000													4	107					0	0	1	0	0
ZNF446	55663	broad.mit.edu	37	19	58989509	58989509	+	Silent	SNP	A	A	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:58989509A>G	ENST00000596341.1	+	4	2808	c.588A>G	c.(586-588)caA>caG	p.Q196Q	ZNF446_ENST00000335841.4_Silent_p.Q196Q|ZNF446_ENST00000594369.1_Silent_p.Q196Q			Q9NWS9	ZN446_HUMAN	zinc finger protein 446	196					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		ATGGACACCAAGAACCAGCCT	0.612000													4	20					0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18675981	18675981	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:18675981G>A	ENST00000308799.4	+	11	2569	c.2350G>A	c.(2350-2352)Gcc>Acc	p.A784T	FBXW10_ENST00000301938.4_Missense_Mutation_p.A702T|FBXW10_ENST00000395665.4_Missense_Mutation_p.A755T|FBXW10_ENST00000395667.1_Missense_Mutation_p.A755T			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	755										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CCTGAAGCCGGCCAAGTTCTC	0.527000													5	161					0	0	1	0	0
GPR18	0	broad.mit.edu	37	13	99907388	99907388	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr13:99907388G>C	ENST00000340807.3	-	3	1295	c.739C>G	c.(739-741)Ccc>Gcc	p.P247A	GPR18_ENST00000397473.2_Missense_Mutation_p.P247A|UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.P247A|UBAC2_ENST00000403766.3_Intron			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	247						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	ATGTGGAAGGGCATAAAGCAG	0.527000													26	87					0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71187016	71187016	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr6:71187016C>A	ENST00000418814.2	+	8	1137	c.523C>A	c.(523-525)Cta>Ata	p.L175I	FAM135A_ENST00000361499.3_Missense_Mutation_p.L175I|FAM135A_ENST00000505769.1_Missense_Mutation_p.L175I|FAM135A_ENST00000457062.2_Missense_Mutation_p.L132I|FAM135A_ENST00000370479.3_Missense_Mutation_p.L132I|FAM135A_ENST00000505868.1_Missense_Mutation_p.L175I	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	175										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						ATTGGTTGCACTACACCAGCC	0.348000													5	75					3.59834e-05	3.83374e-05	1	1	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													10	141					0	0	1	0	0
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.					transcription factor TFIIIC complex	DNA binding|protein binding	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468000													4	104					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178917496	178917496	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:178917496C>T	ENST00000263967.3	+	3	528	c.371C>T	c.(370-372)cCa>cTa	p.P124L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	124					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.P124L(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATCGGCATGCCAGTGTGTGAA	0.348000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	92					0	0	1	0	0
COLGALT2	23127	broad.mit.edu	37	1	183938441	183938441	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:183938441T>G	ENST00000361927.4	-	5	1165	c.794A>C	c.(793-795)gAt>gCt	p.D265A	COLGALT2_ENST00000546159.1_Missense_Mutation_p.D265A	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		AATGATGTCATCAAAGGTCCA	0.517000													27	53					0	0	1	0	0
SPIC	121599	broad.mit.edu	37	12	101880424	101880424	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr12:101880424G>A	ENST00000551346.1	+	6	781	c.622G>A	c.(622-624)Ggg>Agg	p.G208R	SPIC_ENST00000299272.5_Missense_Mutation_p.G208R			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	208						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						CTATTTCCTGGGGAAAGAGAT	0.383000													68	92					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													4	159					0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10668528	10668528	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:10668528C>G	ENST00000312962.6	-	15	1440	c.1421G>C	c.(1420-1422)cGc>cCc	p.R474P	KRI1_ENST00000361821.5_Missense_Mutation_p.R470P	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	474										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGGGGCCTCGCGCTTTTTCTT	0.687000													10	30					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124339330	124339330	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr10:124339330C>A	ENST00000368909.3	+	10	1022	c.916C>A	c.(916-918)Cat>Aat	p.H306N	DMBT1_ENST00000330163.4_Missense_Mutation_p.H306N|DMBT1_ENST00000368956.2_Missense_Mutation_p.H306N|DMBT1_ENST00000368955.3_Missense_Mutation_p.H306N|DMBT1_ENST00000344338.3_Missense_Mutation_p.H306N|DMBT1_ENST00000338354.3_Missense_Mutation_p.H306N|DMBT1_ENST00000359586.6_Intron	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	306	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGCTCAGGACATGAGTCCTA	0.607000													5	204					0.000219431	0.000229497	1	1	0
CD86	942	broad.mit.edu	37	3	121825090	121825090	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:121825090A>C	ENST00000330540.2	+	4	562	c.446A>C	c.(445-447)gAa>gCa	p.E149A	CD86_ENST00000264468.5_Intron|CD86_ENST00000493101.1_Missense_Mutation_p.E37A|CD86_ENST00000393627.2_Missense_Mutation_p.E143A|CD86_ENST00000469710.1_Missense_Mutation_p.E67A	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	149					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	AATATAACAGAAAATGTGTAC	0.328000													19	46					0	0	1	0	0
RP11-114H24.7	0	broad.mit.edu	37	15	78212618	78212618	+	RNA	SNP	A	A	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr15:78212618A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TGTAACCGCCACTGGAGGACC	0.562000													4	77					0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36186517	36186517	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:36186517C>A	ENST00000251195.5	-	25	4070	c.3974G>T	c.(3973-3975)aGg>aTg	p.R1325M				Q9HAW4	CLSPN_HUMAN	claspin	0					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAATGAAAGCCTGAAGAATCC	0.488000													13	8					0.00010058	0.000106168	1	1	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													7	156					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87104738	87104738	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr7:87104738G>A	ENST00000265723.4	-	2	155	c.44C>T	c.(43-45)aCg>aTg	p.T15M	ABCB4_ENST00000453593.1_Missense_Mutation_p.T15M|ABCB4_ENST00000545634.1_Missense_Mutation_p.T15M|ABCB4_ENST00000359206.3_Missense_Mutation_p.T15M|ABCB4_ENST00000358400.3_Missense_Mutation_p.T15M	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	15					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTCCGCGCTCGTGGGGCGCCA	0.597000													25	42					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													5	136					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42731816	42731816	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr15:42731816G>T	ENST00000263805.4	-	8	4216	c.3890C>A	c.(3889-3891)cCa>cAa	p.P1297Q	ZNF106_ENST00000565611.1_Missense_Mutation_p.P482Q|ZNF106_ENST00000565380.1_Missense_Mutation_p.P525Q	NM_022473.1	NP_071918.1			zinc finger protein 106																		GCCTTTGGTTGGCTCTTCCCC	0.443000													7	136					0.0381472	0.0381472	1	1	0
GABRA6	2559	broad.mit.edu	37	5	161113343	161113343	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr5:161113343C>T	ENST00000523217.1	+	2	388	c.146C>T	c.(145-147)cCg>cTg	p.P49L	GABRA6_ENST00000274545.5_Missense_Mutation_p.P49L|GABRA6_ENST00000522269.1_3'UTR	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	49					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CGGCTGCGGCCGGGATTTGGA	0.488000										TCGA Ovarian(5;0.080)			7	136					0	0	1	0	0
LINC00264	0	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													4	58					0	0	1	0	0
DYRK2	8445	broad.mit.edu	37	12	68052429	68052429	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr12:68052429C>T	ENST00000344096.3	+	3	2155	c.1742C>T	c.(1741-1743)gCg>gTg	p.A581V	DYRK2_ENST00000393555.3_Missense_Mutation_p.A508V	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	581					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		ACTAATTTGGCGCAGATGACA	0.468000													108	261					0	0	1	0	0
FAM65A	79567	broad.mit.edu	37	16	67574096	67574096	+	Silent	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr16:67574096C>T	ENST00000540839.3	+	8	835	c.615C>T	c.(613-615)cgC>cgT	p.R205R	FAM65A_ENST00000428437.2_Silent_p.R199R|FAM65A_ENST00000379312.3_Silent_p.R189R|FAM65A_ENST00000566522.1_3'UTR|FAM65A_ENST00000422602.2_Silent_p.R205R|FAM65A_ENST00000042381.4_Silent_p.R185R			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	189						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GGGGGCATCGCGAGTACACGG	0.692000													38	46					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6833209	6833209	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:6833209C>T	ENST00000304076.2	+	16	1617	c.1523C>T	c.(1522-1524)cCg>cTg	p.P508L	VAV1_ENST00000539284.1_Missense_Mutation_p.P411L|VAV1_ENST00000596764.1_Missense_Mutation_p.P476L|VAV1_ENST00000602142.1_Missense_Mutation_p.P508L|VAV1_ENST00000599806.1_Missense_Mutation_p.P453L	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	508					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AACATCTATCCGGAGAATGCC	0.438000													11	18					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10359164	10359164	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:10359164G>A	ENST00000255381.2	-	18	2133	c.2023C>T	c.(2023-2025)Cgg>Tgg	p.R675W	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	675	Actin-binding (By similarity).|Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATGATGCACCGCACAAAGTGG	0.433000													4	184					0	0	1	0	0
BSG	682	broad.mit.edu	37	19	577937	577937	+	Silent	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:577937C>T	ENST00000333511.3	+	2	301	c.231C>T	c.(229-231)gaC>gaT	p.D77D	BSG_ENST00000353555.4_Intron|BSG_ENST00000574970.1_3'UTR|BSG_ENST00000545507.2_Intron|BSG_ENST00000346916.4_Intron	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin	77					blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGGCTGGACCGCGTCCACA	0.692000													3	20					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391884	139391884	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr9:139391884C>A	ENST00000277541.6	-	34	6382	c.6307G>T	c.(6307-6309)Gag>Tag	p.E2103*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2103					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCATGCGCTCCTGTGCGATG	0.672000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			29	17					1.08312e-15	1.22253e-15	1	1	0
RETNLB	84666	broad.mit.edu	37	3	108475916	108475916	+	Silent	SNP	G	G	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:108475916G>T	ENST00000295755.6	-	1	315	c.117C>A	c.(115-117)ctC>ctA	p.L39L		NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	39					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						CTAGACTGTTGAGAACATCCT	0.498000													12	23					0.000978159	0.00101373	1	1	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072	by1000genomes	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:45128671T>G	ENST00000575173.1	-	0	418																											GCTCACAAAATAAGTTCCAGG	0.323000													4	221					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325278	31325278	+	Silent	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr18:31325278G>A	ENST00000269197.5	+	12	5466	c.5466G>A	c.(5464-5466)aaG>aaA	p.K1822K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAATGAGAAAGCGAGAAAACC	0.468000													95	133					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15701333	15701333	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr2:15701333C>A	ENST00000281513.5	-	1	121	c.96G>T	c.(94-96)tgG>tgT	p.W32C	NBAS_ENST00000441750.1_Missense_Mutation_p.W32C	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	32										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TCTCCGGTGGCCACTCGGTGT	0.617000													68	136					5.62145e-24	6.40845e-24	1	1	0
JSRP1	126306	broad.mit.edu	37	19	2252988	2252988	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:2252988C>T	ENST00000300961.5	-	6	515	c.451G>A	c.(451-453)Gag>Aag	p.E151K	JSRP1_ENST00000586471.1_Missense_Mutation_p.E151K	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	151	Pro-rich.					sarcoplasmic reticulum membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGCTGCCTCCCCAGGGACG	0.692000													3	6					0	0	1	0	0
RANGAP1	5905	broad.mit.edu	37	22	41650402	41650402	+	Silent	SNP	C	C	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr22:41650402C>T	ENST00000455915.2	-	10	2639	c.1170G>A	c.(1168-1170)gaG>gaA	p.E390E	RANGAP1_ENST00000356244.3_Silent_p.E390E|RANGAP1_ENST00000405486.1_Silent_p.E390E|RANGAP1_ENST00000407260.4_Silent_p.E335E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	390	Asp/Glu-rich (highly acidic).				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	p.E390E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						cctcctcctcctcttcttcct	0.562000													3	57					0	0	1	0	0
RGS16	6004	broad.mit.edu	37	1	182571168	182571168	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:182571168G>C	ENST00000367558.5	-	4	468	c.320C>G	c.(319-321)gCt>gGt	p.A107G		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	107	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						CAGCTTGGTAGCTGATCGGAT	0.542000											OREG0014036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	176					0	0	1	0	0
MED26	9441	broad.mit.edu	37	19	16687703	16687703	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:16687703G>A	ENST00000263390.3	-	3	1200	c.938C>T	c.(937-939)cCg>cTg	p.P313L	CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.P321L	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	313	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						AAGCGGTGACGGCACCTGTGT	0.682000													13	24					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139288907	139288907	+	Silent	SNP	T	T	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr7:139288907T>A	ENST00000406875.3	-	10	2269	c.2175A>T	c.(2173-2175)ggA>ggT	p.G725G	HIPK2_ENST00000342645.6_Silent_p.G725G|HIPK2_ENST00000428878.2_Silent_p.G698G	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	725	Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGGTGGCCACTCCAGTCAGTT	0.587000													5	172					0	0	1	0	0
CTDSPL2	51496	broad.mit.edu	37	15	44813601	44813601	+	Silent	SNP	A	A	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr15:44813601A>G	ENST00000260327.4	+	12	1895	c.1332A>G	c.(1330-1332)gaA>gaG	p.E444E	CTDSPL2_ENST00000396780.1_Silent_p.E372E|CTDSPL2_ENST00000558373.1_Silent_p.E372E|CTDSPL2_ENST00000558966.1_Silent_p.E444E	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	444							phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		AGCTTGTAGAACTGGTAAGTG	0.303000													42	96					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284000													4	163					0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806608	97806608	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:97806608G>A	ENST00000358642.2	+	1	592	c.592G>A	c.(592-594)Gca>Aca	p.A198T		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A198T(2)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ATCTATTAACGCACTAATGAT	0.289000													34	62					0	0	1	0	0
DPEP3	64180	broad.mit.edu	37	16	68014005	68014005	+	Silent	SNP	G	G	T			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr16:68014005G>T	ENST00000268793.4	-	1	727	c.354C>A	c.(352-354)ctC>ctA	p.L118L	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	93					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		ACCCGTCCACGAGTGGGAAAC	0.637000													8	80					5.18039e-06	5.57136e-06	1	1	0
TIAM2	26230	broad.mit.edu	37	6	155500200	155500200	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr6:155500200G>A	ENST00000461783.3	+	13	3824	c.2551G>A	c.(2551-2553)Ggc>Agc	p.G851S	TIAM2_ENST00000360366.4_Missense_Mutation_p.G875S|TIAM2_ENST00000529824.2_Missense_Mutation_p.G851S|TIAM2_ENST00000456877.2_Missense_Mutation_p.G163S|TIAM2_ENST00000367174.2_Missense_Mutation_p.G227S|TIAM2_ENST00000528391.2_Missense_Mutation_p.G187S|TIAM2_ENST00000318981.5_Missense_Mutation_p.G851S|TIAM2_ENST00000456144.1_Missense_Mutation_p.G851S			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	851	RBD.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CAGCCATTATGGCCTACAGCT	0.373000													24	52					0	0	1	0	0
SELRC1	65260	broad.mit.edu	37	1	53163903	53163905	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:53163903_53163905delCTT	ENST00000371538.3	-	1	133_135	c.94_96delAAG	c.(94-96)del	p.K32del		NM_023077.2	NP_075565.2	Q96BR5	SELR1_HUMAN	Sel1 repeat containing 1	32							binding			breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						CGTCCGGGTCCTTCTCGTGGTAG	0.635													35	21	---	---	---	---					
FUBP1	8880	broad.mit.edu	37	1	78444677	78444678	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:78444677_78444678delAT	ENST00000370767.1	-	1	98_99	c.11_12delAT	c.(10-12)tfs	p.Y4fs	FUBP1_ENST00000370768.2_Frame_Shift_Del_p.Y4fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.Y4fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	4					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCACTGTTGAATAGTCTGCCAT	0.559			"""F, N"""		oligodendroglioma								24	8	---	---	---	---					
RPTN	126638	broad.mit.edu	37	1	152128277	152128280	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:152128277_152128280delTGTC	ENST00000316073.3	-	3	1359_1362	c.1295_1298delGACA	c.(1294-1299)aafs	p.RQ432fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	432	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.R432K(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.525													7	1352	---	---	---	---					
HDGF	3068	broad.mit.edu	37	1	156713615	156713616	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:156713615_156713616insCC	ENST00000357325.5	-	5	858_859	c.544_545insGG	c.(544-546)agcfs	p.S182fs	HDGF_ENST00000368206.5_Frame_Shift_Ins_p.S198fs|HDGF_ENST00000368209.5_Frame_Shift_Ins_p.S175fs|HDGF_ENST00000416666.2_Frame_Shift_Ins_p.S150fs|HDGF_ENST00000537739.1_Frame_Shift_Ins_p.S182fs|HDGF_ENST00000465180.1_5'UTR	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	182	Glu-rich.				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CAAGGTGGCTGCCTCCTTCTCC	0.599													14	49	---	---	---	---					
ASPM	259266	broad.mit.edu	37	1	197112272	197112273	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:197112272_197112273delAG	ENST00000367409.4	-	3	1365_1366	c.1109_1110delCT	c.(1108-1110)tfs	p.S370fs	ASPM_ENST00000294732.7_Frame_Shift_Del_p.S370fs	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	370					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTTTATGAAAGAATCTGGACT	0.287													19	40	---	---	---	---					
FBXO28	23219	broad.mit.edu	37	1	224345219	224345219	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:224345219delA	ENST00000366862.5	+	5	921	c.878delA	c.(877-879)cafs	p.Q293fs	FBXO28_ENST00000424254.2_3'UTR	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	293										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		CAAGAACAGCAAAAACAGCTT	0.478													10	174	---	---	---	---					
AC096649.3	0	broad.mit.edu	37	2	176190119	176190259	+	RNA	DEL	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	-	rs148912092	by1000genomes	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr2:176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	ENST00000438963.1	+	0	247																											gctgtgtggcggtatcacaacctctactcagttctactacaaactgtctcaagaactagatttatacaatcatgtacctaagccccgcaacaaaagagtacccattcttccttttgttatcagagcaggagtgctaggtgtgctgtgtggtggtatcacaa	0.440													94	270	---	---	---	---					
SP140L	93349	broad.mit.edu	37	2	231222607	231222607	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr2:231222607delA	ENST00000243810.6	+	3	195	c.195delA	c.(193-195)tcfs	p.S65fs	SP140_ENST00000486687.2_3'UTR|SP140L_ENST00000396563.4_Frame_Shift_Del_p.S65fs|SP140L_ENST00000415673.2_Frame_Shift_Del_p.S65fs|SP140L_ENST00000444636.1_Frame_Shift_Del_p.S65fs|SP140L_ENST00000458341.1_5'UTR			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	65	HSR.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TGGAGATATCAAATGCAATAA	0.393													12	268	---	---	---	---					
CAPN10	11132	broad.mit.edu	37	2	241534054	241534055	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr2:241534054_241534055delCT	ENST00000391984.2	+	6	1121_1122	c.925_926delCT	c.(925-927)cfs	p.L309fs	CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000354082.4_Frame_Shift_Del_p.L309fs|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000391982.2_Frame_Shift_Del_p.L309fs|CAPN10_ENST00000404753.3_Frame_Shift_Del_p.L309fs	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	309	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGAGGAGTTCCTCAGGGAGTTT	0.639													7	131	---	---	---	---					
GLB1	2720	broad.mit.edu	37	3	33093398	33093402	+	Frame_Shift_Del	DEL	AAGTA	AAGTA	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:33093398_33093402delAAGTA	ENST00000307363.5	-	8	1031_1035	c.887_891delTACTT	c.(886-891)afs	p.IL296fs	GLB1_ENST00000399402.3_Frame_Shift_Del_p.IL266fs|GLB1_ENST00000307377.8_Frame_Shift_Del_p.IL165fs|GLB1_ENST00000445488.2_Frame_Shift_Del_p.IL344fs	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	296					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				CCCCACGGGCAAGTATATCATAGAG	0.502													22	64	---	---	---	---					
XYLB	9942	broad.mit.edu	37	3	38411579	38411580	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:38411579_38411580delAA	ENST00000207870.3	+	9	769_770	c.679_680delAA	c.(679-681)afs	p.K227fs	XYLB_ENST00000542835.1_Frame_Shift_Del_p.K90fs	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	227					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GATACAGGATAAAGTCTGGTCC	0.446													81	183	---	---	---	---					
ATRIP	84126	broad.mit.edu	37	3	48501874	48501875	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:48501874_48501875delTC	ENST00000412052.1	+	8	1604_1605	c.1142_1143delTC	c.(1141-1143)tfs	p.F381fs	ATRIP_ENST00000357105.6_Frame_Shift_Del_p.F347fs|ATRIP_ENST00000346691.4_Frame_Shift_Del_p.F474fs|ATRIP_ENST00000320211.3_Frame_Shift_Del_p.F474fs	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	474					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGGAAGGCTTCTCTGTGACTG	0.579								Other conserved DNA damage response genes					11	99	---	---	---	---					
SHOX2	6474	broad.mit.edu	37	3	157815841	157815841	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:157815841delT	ENST00000490689.2	-	5	2081	c.548delA	c.(547-549)agfs	p.K183fs	SHOX2_ENST00000441443.2_Frame_Shift_Del_p.K183fs|SHOX2_ENST00000425436.3_Frame_Shift_Del_p.K324fs|SHOX2_ENST00000389589.4_Frame_Shift_Del_p.K348fs|SHOX2_ENST00000483851.2_Frame_Shift_Del_p.K312fs			O60902	SHOX2_HUMAN	short stature homeobox 2	324					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TGCGGCGTGCTTTTTGGCTTT	0.677													7	575	---	---	---	---					
SDHAP1	0	broad.mit.edu	37	3	195701310	195701311	+	RNA	INS	-	-	AA			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:195701310_195701311insAA	ENST00000427841.1	-	0	1513_1514					NR_003264.2																						CATGCCTGACCAGACAACCAGG	0.574													7	69	---	---	---	---					
ADH1C	126	broad.mit.edu	37	4	100261040	100261041	+	RNA	INS	-	-	A	rs138827617	by1000genomes	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:100261040_100261041insA	ENST00000515683.1	-	0	1316					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	AGTGCTTTCACAAAAAAAATCA	0.327													6	9	---	---	---	---					
CXXC4	80319	broad.mit.edu	37	4	105412094	105412096	+	In_Frame_Del	DEL	GAG	GAG	-	rs146939312		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:105412094_105412096delGAG	ENST00000394767.2	-	2	1314_1316	c.864_866delCTC	c.(862-867)tcg>tc	p.SS290del	CXXC4_ENST00000426831.1_In_Frame_Del_p.SS121del|AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000466963.1_Intron	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	121					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	p.S120A(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TGAGGAGGACGAGGAGGAGGAGG	0.606													24	75	---	---	---	---					
CMYA5	202333	broad.mit.edu	37	5	79035045	79035047	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr5:79035045_79035047delAAG	ENST00000446378.2	+	2	10488_10490	c.10457_10459delAAG	c.(10456-10461)aaa>a	p.KE3486del		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3486						perinuclear region of cytoplasm		p.E3487*(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGCGAGAGGAAAGAAGAAGACCA	0.414													9	25	---	---	---	---					
LARS	51520	broad.mit.edu	37	5	145502055	145502059	+	Splice_Site	DEL	TTCTA	TTCTA	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr5:145502055_145502059delTTCTA	ENST00000394434.2	-	30	3354_3358	c.3192_splice	c.e30+1	p.IE1063_splice	LARS_ENST00000545646.1_Splice_Site_p.IE1017_splice|LARS_ENST00000510191.1_Splice_Site_p.IE1009_splice|LARS_ENST00000274562.9_Splice_Site_p.IE1036_splice	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	1063					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TTCAACTTACTTCTATTCTAAAAAC	0.351													18	53	---	---	---	---					
HSPA1L	0	broad.mit.edu	37	6	31778432	31778432	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr6:31778432delC	ENST00000375654.4	-	2	1507	c.1318delG	c.(1318-1320)tgfs	p.V440fs	HSPA1L_ENST00000417199.3_Frame_Shift_Del_p.V440fs	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	440					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGGATCAGCACCCCGGGTTGG	0.587													81	168	---	---	---	---					
EPHA7	2045	broad.mit.edu	37	6	93982105	93982106	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr6:93982105_93982106delCT	ENST00000369303.4	-	6	1543_1544	c.1359_1360delAG	c.(1357-1362)agtafs	p.RV453fs		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	453	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CGCTGCAGTACTCTCTCCTTCA	0.436													42	122	---	---	---	---					
GPR22	0	broad.mit.edu	37	7	107115429	107115432	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr7:107115429_107115432delAAAG	ENST00000304402.4	+	3	2267_2270	c.924_927delAAAG	c.(922-927)cafs	p.QK308fs	COG5_ENST00000347053.3_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000475638.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	308						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						GAGAAAGACAAAAGAGAGTCTTCA	0.407													57	88	---	---	---	---					
RFX3	5991	broad.mit.edu	37	9	3225230	3225231	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr9:3225230_3225231delAA	ENST00000382004.3	-	18	2372_2373	c.2061_2062delTT	c.(2059-2064)tccafs	p.SS687fs		NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	687					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TGAGGCTCTGAAGAGTCATCCA	0.450													31	2	---	---	---	---					
MLLT3	4300	broad.mit.edu	37	9	20414376	20414377	+	In_Frame_Ins	INS	-	-	CTG	rs1761445		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr9:20414376_20414377insCTG	ENST00000380338.4	-	5	753_754	c.467_468insCAG	c.(466-468)aag>aCAGag	p.156_156K>TE	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_In_Frame_Ins_p.153_153K>TE|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	156	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgct	0.530			T	MLL	ALL								42	36	---	---	---	---					
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs11279082		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)del	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767													4	9	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139413941	139413942	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr9:139413941_139413942delCA	ENST00000277541.6	-	5	893_894	c.818_819delTG	c.(817-819)gfs	p.V273fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	273	EGF-like 7; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCACGCCGTCCACACAGGCACC	0.653			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			7	97	---	---	---	---					
BICC1	80114	broad.mit.edu	37	10	60556112	60556113	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr10:60556112_60556113delAA	ENST00000373886.3	+	10	1196_1197	c.1192_1193delAA	c.(1192-1194)afs	p.K398fs	BICC1_ENST00000263103.1_Frame_Shift_Del_p.K24fs	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	398					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TGTGATTGTGAAAAGTGTTGAG	0.446													54	65	---	---	---	---					
FAM160B1	57700	broad.mit.edu	37	10	116606856	116606858	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr10:116606856_116606858delGAA	ENST00000369248.4	+	12	1911_1913	c.1576_1578delGAA	c.(1576-1578)del	p.E527del	FAM160B1_ENST00000369250.3_In_Frame_Del_p.E527del	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	527										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TAGAGATCTGGAAGAAGATCCAT	0.345													27	61	---	---	---	---					
OVCH2	341277	broad.mit.edu	37	11	7723984	7723985	+	RNA	DEL	GT	GT	-	rs138638311		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr11:7723984_7723985delGT	ENST00000454689.1	-	0	290				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		ATAATATGGGGTGTGAGGCTGC	0.381													4	2	---	---	---	---					
SWAP70	23075	broad.mit.edu	37	11	9735069	9735070	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr11:9735069_9735070insA	ENST00000318950.6	+	3	400_401	c.297_298insA	c.(295-300)gtaaaafs	p.VK99fs	SWAP70_ENST00000447399.2_Intron	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	99						cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		CCCTCTGTGTCAAAAAAAACCT	0.342													48	134	---	---	---	---					
YIF1A	10897	broad.mit.edu	37	11	66055361	66055362	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr11:66055361_66055362delTT	ENST00000376901.4	-	3	453_454	c.269_270delAA	c.(268-270)afs	p.K90fs	YIF1A_ENST00000359461.6_Frame_Shift_Del_p.K90fs|YIF1A_ENST00000471387.2_Intron	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	90					protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						AATACTTGAGTTTGCTCACAGA	0.584													55	147	---	---	---	---					
NPC2	10577	broad.mit.edu	37	14	74947483	74947492	+	Splice_Site	DEL	CTGGAGAAAG	CTGGAGAAAG	-	rs10140782		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr14:74947483_74947492delCTGGAGAAAG	ENST00000555619.1	-	4	601		c.e4-1		NPC2_ENST00000434013.2_Splice_Site|NPC2_ENST00000541064.1_Intron|NPC2_ENST00000238633.2_Splice_Site|NPC2_ENST00000557510.1_Splice_Site	NM_006432.3	NP_006423.1	P61916	NPC2_HUMAN	Niemann-Pick disease, type C2						cholesterol efflux|cholesterol homeostasis|glycolipid transport|intracellular cholesterol transport|phospholipid transport|regulation of isoprenoid metabolic process|response to virus	extracellular region|lysosome	cholesterol binding|enzyme binding			breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.00149)		CCAGTTTTATCTGGAGAAAGAGAAAAATAA	0.395													11	214	---	---	---	---					
SPINT1	6692	broad.mit.edu	37	15	41148195	41148195	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr15:41148195delG	ENST00000344051.4	+	9	1505	c.1271delG	c.(1270-1272)ttfs	p.C424fs	SPINT1_ENST00000431806.1_Frame_Shift_Del_p.C408fs|SPINT1_ENST00000562057.1_Frame_Shift_Del_p.C408fs			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	424	BPTI/Kunitz inhibitor 2.					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TATGGTGGTTGTTACGGCAAC	0.577													55	105	---	---	---	---					
TP53BP1	7158	broad.mit.edu	37	15	43714217	43714219	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr15:43714217_43714219delGGA	ENST00000263801.3	-	19	4171_4173	c.3919_3921delTCC	c.(3919-3921)del	p.S1307del	TP53BP1_ENST00000450115.2_In_Frame_Del_p.S1312del|TP53BP1_ENST00000382039.3_In_Frame_Del_p.S1312del|TP53BP1_ENST00000382044.4_In_Frame_Del_p.S1312del	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1307					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGGATGCCTTGGAGGAGAAGGAG	0.537								Other conserved DNA damage response genes					59	96	---	---	---	---					
IGF1R	3480	broad.mit.edu	37	15	99500458	99500468	+	Frame_Shift_Del	DEL	AGAGAACATGG	AGAGAACATGG	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr15:99500458_99500468delAGAGAACATGG	ENST00000268035.6	+	21	4502_4512	c.3891_3901delAGAGAACATGG	c.(3889-3903)ccagfs	p.PENME1297fs	RP11-654A16.3_ENST00000559468.1_RNA|IGF1R_ENST00000558762.1_Frame_Shift_Del_p.PENME1296fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1297					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	ACCTGGAGCCAGAGAACATGGAGAGCGTCCC	0.654													9	40	---	---	---	---					
ZNF205	7755	broad.mit.edu	37	16	3169511	3169513	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr16:3169511_3169513delGAG	ENST00000382192.3	+	7	1055_1057	c.850_852delGAG	c.(850-852)del	p.E286del	RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_In_Frame_Del_p.E286del|RP11-473M20.14_ENST00000576490.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.E284E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GAAGCCCAACGAGGAGGAGAAGG	0.704													7	7	---	---	---	---					
RRN3P2	0	broad.mit.edu	37	16	29110406	29110406	+	RNA	DEL	T	T	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr16:29110406delT	ENST00000564580.1	+	0	1098																											TTAAAAAATCTTTTTTTTTTT	0.299													10	71	---	---	---	---					
RP11-67H24.2	0	broad.mit.edu	37	16	32823529	32823530	+	RNA	INS	-	-	G			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr16:32823529_32823530insG	ENST00000569859.1	+	0	373																											TCCGCGGCGGCGGGGGGACAAA	0.653													5	8	---	---	---	---					
GINS2	51659	broad.mit.edu	37	16	85711840	85711841	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr16:85711840_85711841delCT	ENST00000253462.3	-	5	635_636	c.535_536delAG	c.(535-537)tfs	p.S179fs		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	179					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)	6						AGACTGAGTACTCTCCAGAGGC	0.554													45	63	---	---	---	---					
PRPF8	10594	broad.mit.edu	37	17	1579871	1579874	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:1579871_1579874delACAA	ENST00000572621.1	-	15	2578_2581	c.2313_2316delTTGT	c.(2311-2316)gtfs	p.VC771fs	PRPF8_ENST00000304992.6_Frame_Shift_Del_p.VC771fs			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	771						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GATTCTTTTTACAAACAGTCTTGT	0.574													15	429	---	---	---	---					
YBX2	51087	broad.mit.edu	37	17	7193626	7193628	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:7193626_7193628delAGA	ENST00000007699.5	-	5	749_751	c.686_688delTCT	c.(685-690)tac>t	p.FY229del		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	229	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						CGCCGTCGGTAGAAGAAGGGTGG	0.650													97	156	---	---	---	---					
KRTAP4-5	85289	broad.mit.edu	37	17	39305775	39305776	+	In_Frame_Ins	INS	-	-	GGCAGCAGCTGGGGC	rs58117746		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:39305775_39305776insGGCAGCAGCTGGGGC	ENST00000343246.4	-	1	278_279	c.244_245insGCCCCAGCTGCTGCC	c.(244-246)gac>GCCCCAGCTGCTGCCgac	p.81_82insAPAAA		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	81	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].		Missing (in allele KAP4.5-v1).			keratin filament				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcaggtggtctggcagcagcag	0.653													49	10	---	---	---	---					
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929	by1000genomes	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgt>cg	p.RPLCCQTTCHPSCGMSSCCR85del				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10).			keratin filament		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646													156	41	---	---	---	---					
GALR2	8811	broad.mit.edu	37	17	74073448	74073457	+	Frame_Shift_Del	DEL	GTCCTGGCCC	GTCCTGGCCC	-	rs67693166		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:74073448_74073457delGTCCTGGCCC	ENST00000329003.3	+	2	1190_1199	c.1100_1109delGTCCTGGCCC	c.(1099-1110)tgfs	p.CPGP367fs		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	367					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CTCGAGCCCTGTCCTGGCCCGTCCTGGCAG	0.657													6	4	---	---	---	---					
MADCAM1	8174	broad.mit.edu	37	19	501701	501702	+	In_Frame_Ins	INS	-	-	ACACCACCTCCCCGGAGCCTCCCA	rs71171990	byFrequency	TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:501701_501702insACACCACCTCCCCGGAGCCTCCCA	ENST00000587541.1	+	2	897_898	c.43_44insACACCACCTCCCCGGAGCCTCCCA	c.(43-45)cac>ACACCACCTCCCCGGAGCCTCCCAcac	p.14_15insTPPPRSLP	MADCAM1_ENST00000346144.4_Intron|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000382683.4_Intron|MADCAM1_ENST00000215637.3_In_Frame_Ins_p.233_234insTPPPRSLP			Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	233					cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGCCTCCCGACACCACCTCC	0.653													20	41	---	---	---	---					
CACTIN	58509	broad.mit.edu	37	19	3613226	3613227	+	In_Frame_Ins	INS	-	-	CCTCGC			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:3613226_3613227insCCTCGC	ENST00000429344.2	-	9	1667_1668	c.1615_1616insGCGAGG	c.(1615-1617)ggt>GCGAGGggt	p.538_539insAR	CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_In_Frame_Ins_p.470_471insAR|CACTIN_ENST00000248420.5_In_Frame_Ins_p.538_539insAR	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit																		CATGAGCACCGCCTCGCCCTCG	0.748													14	50	---	---	---	---					
ZNF563	147837	broad.mit.edu	37	19	12430217	12430217	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:12430217delA	ENST00000293725.5	-	4	827	c.622delT	c.(622-624)ggfs	p.W208fs	ZNF563_ENST00000595977.1_Intron	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAACTGGGCCAAAAAAAAGCT	0.393													8	283	---	---	---	---					
CIC	23152	broad.mit.edu	37	19	42795197	42795198	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:42795197_42795198delTG	ENST00000572681.2	+	11	5072_5073	c.5004_5005delTG	c.(5002-5007)actcfs	p.TV1668fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.TV759fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.TV759fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	759					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CGCCTGCCACTGTCACTAACCT	0.668			"""Mis, F, S"""		oligodendroglioma								15	3	---	---	---	---					
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	RNA	DEL	A	A	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363													2	4	---	---	---	---					
MYH7B	57644	broad.mit.edu	37	20	33588814	33588816	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr20:33588814_33588816delGAA	ENST00000262873.7	+	39	5546_5548	c.5454_5456delGAA	c.(5452-5457)ctg>ct	p.LK1818del		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1776						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCGAGGAGCTGAAGAAGGAGCAG	0.635													44	75	---	---	---	---					
SYCP2	10388	broad.mit.edu	37	20	58467047	58467047	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr20:58467047delT	ENST00000357552.3	-	24	2587	c.2362delA	c.(2362-2364)tgfs	p.M788fs	SYCP2_ENST00000371001.2_Frame_Shift_Del_p.M788fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	788					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	p.M788fs*1(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AAGCTCACCATTTTTTTTTGT	0.323													8	120	---	---	---	---					
SCAF4	57466	broad.mit.edu	37	21	33044257	33044259	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr21:33044257_33044259delGCT	ENST00000286835.7	-	20	3279_3281	c.2897_2899delAGC	c.(2896-2901)cca>c	p.QP966del	SCAF4_ENST00000434667.3_In_Frame_Del_p.QP951del|SCAF4_ENST00000399804.1_In_Frame_Del_p.QP944del	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	966	Poly-Gln.					nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GATGGTGgtggctgctgctgctg	0.581													10	209	---	---	---	---					
NEFH	4744	broad.mit.edu	37	22	29885599	29885604	+	In_Frame_Del	DEL	AGGAAG	AGGAAG	-			TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr22:29885599_29885604delAGGAAG	ENST00000310624.6	+	4	2003_2008	c.1970_1975delAGGAAG	c.(1969-1977)aag>a	p.KEE657del		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	663	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TCCCCAGAGAAGGAAGAGGCCAAGTC	0.558													37	179	---	---	---	---					
NUDT11	0	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-DU-6397-02A-12D-A36O-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35b2c623-356d-4319-871f-ccd5c349fdee	60cfef6e-ae32-4680-83e6-f969464d5805	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			5	9	---	---	---	---