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
YY2	404281	broad.mit.edu	37	X	21875524	21875524	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chrX:21875524G>A	ENST00000429584.2	+	1	1420	c.922G>A	c.(922-924)Gag>Aag	p.E308K	MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	308	Mediates transcriptional repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CCACACCGGCGAGAAGCCCTT	0.542000													121	19					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21172825	21172825	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr22:21172825G>A	ENST00000255882.6	-	7	888	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	PI4KA_ENST00000572273.1_Missense_Mutation_p.R210C	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	210					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGCATGCCGCGTTCAGGGCTG	0.498000													10	3					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138738	126138738	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr12:126138738G>A	ENST00000299308.3	+	9	2727	c.2719G>A	c.(2719-2721)Gtc>Atc	p.V907I	TMEM132B_ENST00000535886.1_Missense_Mutation_p.V419I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	907						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTTGCTCTGCGTCTTCTGTCT	0.522000													26	55					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12333082	12333082	+	Missense_Mutation	SNP	T	T	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr1:12333082T>A	ENST00000358136.3	+	18	2256	c.2126T>A	c.(2125-2127)gTg>gAg	p.V709E	VPS13D_ENST00000356315.4_Missense_Mutation_p.V709E	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	709					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CGATGGACCGTGCGGCTGGAT	0.428000													18	66					0	0	1	0	0
PROM1	8842	broad.mit.edu	37	4	16019994	16019994	+	Silent	SNP	G	G	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr4:16019994G>A	ENST00000505450.1	-	8	1539	c.927C>T	c.(925-927)agC>agT	p.S309S	PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000510224.1_Silent_p.S318S|PROM1_ENST00000447510.2_Silent_p.S318S|PROM1_ENST00000540805.1_Silent_p.S318S|PROM1_ENST00000539194.1_Silent_p.S318S|PROM1_ENST00000543373.1_Silent_p.S309S|PROM1_ENST00000508167.1_Silent_p.S309S	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	318					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						ACAATCTGATGCTGTTGCAGG	0.537000													17	29					0	0	1	0	0
NTNG2	84628	broad.mit.edu	37	9	135102298	135102298	+	Missense_Mutation	SNP	G	G	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr9:135102298G>T	ENST00000393229.3	+	4	1696	c.920G>T	c.(919-921)tGc>tTc	p.C307F	NTNG2_ENST00000372179.3_Missense_Mutation_p.C307F|NTNG2_ENST00000360670.3_Missense_Mutation_p.C307F|NTNG2_ENST00000393228.4_Missense_Mutation_p.C307F	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	307	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CAGTGCGAGTGCGAGCACAAC	0.657000													5	10					0.00198382	0.00202694	1	1	0
ATR	545	broad.mit.edu	37	3	142231277	142231277	+	Missense_Mutation	SNP	G	G	C	rs112726878	byFrequency	TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr3:142231277G>C	ENST00000350721.4	-	27	4798	c.4677C>G	c.(4675-4677)gaC>gaG	p.D1559E	ATR_ENST00000383101.3_Missense_Mutation_p.D1495E	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1559					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TATGCTGATCGTCATGCTTTA	0.343000								Other conserved DNA damage response genes					28	51					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200233398	200233398	+	Nonsense_Mutation	SNP	A	A	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr2:200233398A>T	ENST00000443023.1	-	5	1918	c.453T>A	c.(451-453)taT>taA	p.Y151*	SATB2_ENST00000428695.1_Intron|SATB2_ENST00000260926.5_Nonsense_Mutation_p.Y210*|SATB2_ENST00000417098.1_Nonsense_Mutation_p.Y210*|SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000457245.1_Nonsense_Mutation_p.Y210*			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	210						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CATTGGCATAATATGTGCTAT	0.318000													31	41					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136323143	136323143	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr9:136323143C>T	ENST00000371929.3	+	28	4448	c.4004C>T	c.(4003-4005)gCa>gTa	p.A1335V	ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.A1248V|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.A1279V|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.A131V	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1335	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	p.A1335G(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCTCCGCACGCACGGATTGCC	0.622000													12	27					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67008130	67008130	+	Missense_Mutation	SNP	A	A	G	rs144122311		TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr17:67008130A>G	ENST00000340001.4	-	23	3345	c.3134T>C	c.(3133-3135)aTt>aCt	p.I1045T	ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Missense_Mutation_p.I1045T|ABCA9_ENST00000370732.2_Missense_Mutation_p.I1045T	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1045					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GTAGTCACCAATGCTGCTCAT	0.403000													3	63					0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27218485	27218485	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr6:27218485G>A	ENST00000230582.3	+	5	506	c.491G>A	c.(490-492)cGc>cAc	p.R164H	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	164					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GTCTCTGCCCGCCTGGCACTT	0.632000													3	42					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48604655	48604655	+	Missense_Mutation	SNP	G	G	A	rs121912578		TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr18:48604655G>A	ENST00000342988.3	+	12	2015	c.1477G>A	c.(1477-1479)Gat>Aat	p.D493N	SMAD4_ENST00000398417.2_Missense_Mutation_p.D493N|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.D397N	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	493	MH2.		D -> H (in pancreatic carcinoma; dbSNP:rs28936392).		BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.D493N(2)|p.D493H(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AATTGGTGTTGATGACCTTCG	0.463000													21	10					0	0	1	0	0
EVA1C	59271	broad.mit.edu	37	21	33887452	33887452	+	Silent	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr21:33887452C>T	ENST00000300255.2	+	8	1751	c.1278C>T	c.(1276-1278)aaC>aaT	p.N426N	EVA1C_ENST00000382699.3_Silent_p.N423N|EVA1C_ENST00000401402.3_Silent_p.N378N|EVA1C_ENST00000485488.1_3'UTR	NM_058187.3	NP_478067.2			eva-1 homolog C (C. elegans)																		TATGGATGAACAGTGGTTTGG	0.463000													5	89					0	0	1	0	0
ZRANB3	84083	broad.mit.edu	37	2	135965229	135965229	+	Silent	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr2:135965229C>T	ENST00000401392.1	-	19	2990	c.2778G>A	c.(2776-2778)gcG>gcA	p.A926A	ZRANB3_ENST00000536680.1_Silent_p.A926A|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000264159.6_Silent_p.A928A			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	928						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CCCAAGAGTTCGCTTTACATG	0.428000													10	162					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108175442	108175442	+	Missense_Mutation	SNP	T	T	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr11:108175442T>A	ENST00000278616.4	+	37	5922	c.5537T>A	c.(5536-5538)aTt>aAt	p.I1846N	ATM_ENST00000452508.2_Missense_Mutation_p.I1846N	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1846					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CCATACTTGATTCATGATATT	0.338000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			17	24					0	0	1	0	0
EPOR	2057	broad.mit.edu	37	19	11489422	11489422	+	Missense_Mutation	SNP	G	G	A	rs139756642		TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr19:11489422G>A	ENST00000592375.2	-	7	964	c.860C>T	c.(859-861)cCg>cTg	p.P287L	EPOR_ENST00000222139.6_Missense_Mutation_p.P287L			P19235	EPOR_HUMAN	erythropoietin receptor	287						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	CTCTGGGCTCGGGATGCCAGG	0.522000													23	33					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594623	179594623	+	Missense_Mutation	SNP	A	A	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr2:179594623A>T	ENST00000589042.1	-	63	18581	c.18357T>A	c.(18355-18357)aaT>aaA	p.N6119K	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.N5802K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N4875K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5802	Ig-like 42.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGACTGTCCATTCCTCAGCA	0.383000													10	9					0	0	1	0	0
SLC37A4	2542	broad.mit.edu	37	11	118899962	118899962	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr11:118899962C>T	ENST00000545985.1	-	3	874	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	SLC37A4_ENST00000357590.5_Missense_Mutation_p.E40K|SLC37A4_ENST00000330775.7_Missense_Mutation_p.E40K|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000538950.1_Intron	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	40					glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GGGATCTCTTCCACCAATGAT	0.507000													9	15					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110393743	110393743	+	Splice_Site	SNP	G	G	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr8:110393743G>A	ENST00000378402.5	+	3	412	c.308_splice	c.e3+1	p.R103_splice		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	103	IPT/TIG 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGCTATACTAGGTCTGTTTTA	0.279000										HNSCC(38;0.096)			10	1					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113358324	113358324	+	Splice_Site	SNP	A	A	G			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr8:113358324A>G	ENST00000297405.5	-	41	6687		c.e41+1		CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAATACACATACCAAAACCTA	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	102					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46898339	46898339	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr11:46898339C>T	ENST00000378623.1	-	24	3562	c.3320G>A	c.(3319-3321)cGt>cAt	p.R1107H		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1107					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGATTGGCACGACTGATCCT	0.567000													8	115					0	0	1	0	0
ZNF572	137209	broad.mit.edu	37	8	125989773	125989773	+	Silent	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr8:125989773C>T	ENST00000319286.5	+	3	1417	c.1263C>T	c.(1261-1263)ttC>ttT	p.F421F		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GGAAAACTTTCAGTCAGAGTT	0.428000										HNSCC(60;0.17)			38	107					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44891888	44891888	+	Missense_Mutation	SNP	C	C	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr19:44891888C>A	ENST00000330997.4	-	4	583	c.519G>T	c.(517-519)gaG>gaT	p.E173D	ZNF285_ENST00000544719.2_Missense_Mutation_p.E173D|ZNF285_ENST00000591679.1_Missense_Mutation_p.E180D|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TGTACAATTTCTCTTCCATGT	0.478000													5	132					0.184627	0.184627	1	1	0
HSPG2	3339	broad.mit.edu	37	1	22204695	22204695	+	Missense_Mutation	SNP	T	T	C			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr1:22204695T>C	ENST00000374695.3	-	21	2748	c.2669A>G	c.(2668-2670)gAg>gGg	p.E890G		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	890	Laminin EGF-like 4; truncated.			EA -> RT (in Ref. 6; AAB21121).	angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCGGCAGGCCTCCCCGGAGGT	0.637000													4	11					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167249006	167249006	+	Missense_Mutation	SNP	G	G	C			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr3:167249006G>C	ENST00000308378.3	-	9	1364	c.1059C>G	c.(1057-1059)gaC>gaG	p.D353E	WDR49_ENST00000453925.2_Missense_Mutation_p.D417E|WDR49_ENST00000476376.1_Missense_Mutation_p.D178E|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	353										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TGGTAGAATGGTCTGCCATGG	0.438000													4	76					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33638125	33638125	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr6:33638125G>A	ENST00000374316.5	+	20	3273	c.2213G>A	c.(2212-2214)cGc>cAc	p.R738H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R738H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	738					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CTCTTTGCCCGCATGTGCTTG	0.607000													3	58					0	0	1	0	0
ZNF548	147694	broad.mit.edu	37	19	57908537	57908537	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr19:57908537C>T	ENST00000366197.5	+	2	387	c.137C>T	c.(136-138)tCa>tTa	p.S46L	AC003002.4_ENST00000597658.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.S58L|ZNF548_ENST00000597400.1_Missense_Mutation_p.S58L|ZNF548_ENST00000598895.1_Missense_Mutation_p.S58L|AC003002.6_ENST00000600421.1_3'UTR|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTTTGTCCTCACTAGGTAAG	0.542000													129	219					0	0	1	0	0
TMTC4	84899	broad.mit.edu	37	13	101257321	101257321	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr13:101257321G>A	ENST00000342624.5	-	19	2468	c.2210C>T	c.(2209-2211)aCg>aTg	p.T737M	TMTC4_ENST00000376234.3_Missense_Mutation_p.T718M|TMTC4_ENST00000328767.5_Missense_Mutation_p.T607M	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	718						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCCTGATGCCGTGGGGTCAAG	0.423000													8	165					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202288000	202288000	+	Missense_Mutation	SNP	G	G	A	rs144773392		TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr1:202288000G>A	ENST00000367278.3	+	18	2658	c.2569G>A	c.(2569-2571)Ggg>Agg	p.G857R	LGR6_ENST00000255432.7_Missense_Mutation_p.G805R|LGR6_ENST00000439764.2_Missense_Mutation_p.G718R	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	857						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGCTGCGGCCGGGGAGCTGGA	0.642000													31	61					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71267477	71267477	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr14:71267477C>T	ENST00000554752.2	-	2	726	c.727G>A	c.(727-729)Gtg>Atg	p.V243M	MAP3K9_ENST00000555993.2_Missense_Mutation_p.V243M|MAP3K9_ENST00000381250.4_Missense_Mutation_p.V243M			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	243	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCCAATTCACCAGGATGTCT	0.493000													31	34					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28338099	28338099	+	Silent	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr21:28338099C>T	ENST00000284987.5	-	1	733	c.612G>A	c.(610-612)ccG>ccA	p.P204P		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	204					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGGCGCGCGGCGGCAGGGCCT	0.716000													4	6					0	0	1	0	0
IRF4	3662	broad.mit.edu	37	6	397164	397164	+	Silent	SNP	G	G	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr6:397164G>A	ENST00000380956.4	+	5	675	c.549G>A	c.(547-549)ccG>ccA	p.P183P	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	183					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		ACTACGTCCCGGATCAGCCAC	0.562000			T	IGH@	MM								50	60					0	0	1	0	0
ABHD8	79575	broad.mit.edu	37	19	17405642	17405642	+	Silent	SNP	G	G	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr19:17405642G>A	ENST00000247706.3	-	3	1013	c.774C>T	c.(772-774)tgC>tgT	p.C258C	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	258							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CCAGGAATGTGCAGAAAGAGA	0.532000													3	21					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120756627	120756627	+	Missense_Mutation	SNP	T	T	C			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr8:120756627T>C	ENST00000378164.2	-	24	3413	c.3115A>G	c.(3115-3117)Agt>Ggt	p.S1039G		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1039					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCTTGAGAACTGGAAAACTAA	0.393000													5	193					0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6479027	6479027	+	Silent	SNP	G	G	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr11:6479027G>A	ENST00000525074.1	-	4	808	c.414C>T	c.(412-414)tgC>tgT	p.C138C	TRIM3_ENST00000359518.3_Silent_p.C138C|TRIM3_ENST00000345851.3_Silent_p.C138C|TRIM3_ENST00000537602.1_Silent_p.C138C|TRIM3_ENST00000536344.1_Silent_p.C19C	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	138					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCGGCGCGGCACTCACCAC	0.612000													4	76					0	0	1	0	0
C10orf118	55088	broad.mit.edu	37	10	115922869	115922869	+	Missense_Mutation	SNP	T	T	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr10:115922869T>A	ENST00000369287.3	-	2	425	c.159A>T	c.(157-159)ttA>ttT	p.L53F	C10orf118_ENST00000369286.1_Missense_Mutation_p.L53F|C10orf118_ENST00000369285.3_Missense_Mutation_p.L53F	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	53										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TAGGTTGACATAAAGTTTTAT	0.363000													45	69					0	0	1	0	0
CD40LG	959	broad.mit.edu	37	X	135730414	135730414	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chrX:135730414G>A	ENST00000370629.2	+	1	63	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	CD40LG_ENST00000370628.2_Missense_Mutation_p.E3K	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	3					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	p.E3K(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	CAGCATGATCGAAACATACAA	0.433000									Immune Deficiency with Hyper-IgM				48	11					0	0	1	0	0
RCC2	55920	broad.mit.edu	37	1	17752171	17752171	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr1:17752171C>T	ENST00000375436.4	-	4	576	c.389G>A	c.(388-390)cGc>cAc	p.R130H	RCC2_ENST00000375433.3_Missense_Mutation_p.R130H	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	130					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		ACCGAGATTGCGGTAAGCAGC	0.612000													3	17					0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48636261	48636261	+	Missense_Mutation	SNP	T	T	C			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr19:48636261T>C	ENST00000263274.7	-	18	2122	c.1703A>G	c.(1702-1704)aAa>aGa	p.K568R	LIG1_ENST00000536218.1_Missense_Mutation_p.K500R|LIG1_ENST00000427526.2_Missense_Mutation_p.K537R	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	568					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CCCGTCATATTTGTATTCGCA	0.572000								Nucleotide excision repair (NER)					7	197					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64958388	64958388	+	Silent	SNP	A	A	G			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr10:64958388A>G	ENST00000399262.2	-	12	5594	c.5376T>C	c.(5374-5376)ttT>ttC	p.F1792F	JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Silent_p.F1573F|JMJD1C_ENST00000542921.1_Silent_p.F1610F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1792					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CATCATCTTCAAAATTTTCAT	0.323000													5	119					0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220792011	220792011	+	Missense_Mutation	SNP	C	C	G			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr1:220792011C>G	ENST00000402574.1	+	9	1420	c.418C>G	c.(418-420)Cgt>Ggt	p.R140G	MARK1_ENST00000366917.4_Missense_Mutation_p.R275G|MARK1_ENST00000366918.4_Missense_Mutation_p.R253G	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	275	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AGGGAAGTACCGTATTCCCTT	0.353000													4	111					0	0	1	0	0
AC007563.5	0	broad.mit.edu	37	2	217650442	217650443	+	RNA	INS	-	-	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr2:217650442_217650443insT	ENST00000447289.1	+	0	510																											gcccggcTCACTTTTTTTTTTT	0.436													4	3	---	---	---	---					
TAF1L	138474	broad.mit.edu	37	9	32634331	32634333	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr9:32634331_32634333delAGA	ENST00000242310.4	-	1	1334_1336	c.1245_1247delTCT	c.(1243-1248)ctg>ct	p.LL415del	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	415					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTCGTCAGCCAGAAGATCAGTGC	0.433													7	316	---	---	---	---					
SNHG14	0	broad.mit.edu	37	15	25310192	25310193	+	RNA	INS	-	-	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr15:25310192_25310193insA	ENST00000549804.2	+	0	538				SNORD116-6_ENST00000384711.1_RNA|SNHG14_ENST00000551077.1_RNA																							ATGAGTCCTCCAAAAAAAACAT	0.475													43	81	---	---	---	---					
PTBP1	5725	broad.mit.edu	37	19	806459	806461	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr19:806459_806461delCGG	ENST00000356948.6	+	10	1445_1447	c.1022_1024delCGG	c.(1021-1026)tcg>t	p.SA341del	PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_In_Frame_Del_p.SA334del|PTBP1_ENST00000349038.4_In_Frame_Del_p.SA315del	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	315	RRM 3.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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)		GCCATCCCCTCGGCGGCGGCGGC	0.700													2	4	---	---	---	---					
SLC17A9	63910	broad.mit.edu	37	20	61595020	61595020	+	Frame_Shift_Del	DEL	C	C	-			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr20:61595020delC	ENST00000370349.3	+	8	996	c.792delC	c.(790-792)ttfs	p.F264fs	SLC17A9_ENST00000370351.4_Frame_Shift_Del_p.F270fs|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	270					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						AGGAGACCTTCCCCGACGCCA	0.667													2	4	---	---	---	---