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
BAZ2A	11176	broad.mit.edu	37	12	56998880	56998880	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr12:56998880G>A	ENST00000179765.5	-	15	2834	c.2635C>T	c.(2635-2637)Cct>Tct	p.P879S	BAZ2A_ENST00000379441.3_Missense_Mutation_p.P881S|BAZ2A_ENST00000551812.1_Missense_Mutation_p.P911S|BAZ2A_ENST00000549884.1_Missense_Mutation_p.P909S			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	911	DDT.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GGAAAGCCAGGATCATGGAGT	0.522000													13	21					0	0	1	0	0
SNW1	22938	broad.mit.edu	37	14	78197382	78197382	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr14:78197382C>T	ENST00000261531.7	-	10	1044	c.982G>A	c.(982-984)Gcc>Acc	p.A328T	SNW1_ENST00000554775.1_Missense_Mutation_p.A166T|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.A328T	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	328	SNW.				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GCTTTCTGGGCCATTTCTCTA	0.403000													4	97					0	0	1	0	0
PTPN23	25930	broad.mit.edu	37	3	47450743	47450743	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr3:47450743G>A	ENST00000265562.4	+	17	1810	c.1733G>A	c.(1732-1734)cGt>cAt	p.R578H	PTPN23_ENST00000431726.1_Missense_Mutation_p.R452H	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	578					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGCAGCTGCGTGAGCTTATC	0.602000													12	27					0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64224315	64224315	+	Splice_Site	SNP	C	C	T	rs113836465		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:64224315C>T	ENST00000205948.6	-	2	102		c.e2-1			NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)						blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TTGGGACAGGCTGAAAGAGGG	0.408000													29	46					0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649951	75649951	+	Missense_Mutation	SNP	T	T	G			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:75649951T>G	ENST00000361470.2	+	1	1906	c.1628T>G	c.(1627-1629)aTt>aGt	p.I543S		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	543	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTGGAGTGCATTTTTAGGTTT	0.468000													15	38					0	0	1	0	0
ZNF733P	0	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	31					0	0	1	0	0
NGLY1	55768	broad.mit.edu	37	3	25792628	25792628	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr3:25792628A>G	ENST00000428257.1	-	4	726	c.619T>C	c.(619-621)Tca>Cca	p.S207P	NGLY1_ENST00000396649.3_Missense_Mutation_p.S207P|NGLY1_ENST00000280700.5_Missense_Mutation_p.S207P|NGLY1_ENST00000417874.2_Missense_Mutation_p.S165P|NGLY1_ENST00000422724.2_Missense_Mutation_p.S130P	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	207					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						TTTTCTTGTGATTTCCTTTTT	0.348000													10	48					0	0	1	0	0
LGALS8	3964	broad.mit.edu	37	1	236700805	236700805	+	Silent	SNP	G	G	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr1:236700805G>A	ENST00000526589.1	+	6	574	c.54G>A	c.(52-54)ccG>ccA	p.P18P	LGALS8_ENST00000527974.1_Silent_p.P18P|LGALS8_ENST00000416919.2_Silent_p.P18P|LGALS8_ENST00000526634.1_Silent_p.P18P|LGALS8_ENST00000352231.2_Silent_p.P18P|LGALS8_ENST00000450372.2_Silent_p.P18P|LGALS8_ENST00000341872.6_Silent_p.P18P|LGALS8_ENST00000323938.6_Silent_p.P18P|LGALS8_ENST00000525042.1_Silent_p.P18P|LGALS8_ENST00000366584.4_Silent_p.P18P			O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	18						cytoplasm|extracellular space	sugar binding			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGGTAATCCCGTTTGTTGGCA	0.368000													29	36					0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51769588	51769588	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr10:51769588G>A	ENST00000374056.4	+	7	2032	c.1634G>A	c.(1633-1635)cGt>cAt	p.R545H	AGAP6_ENST00000412531.3_Missense_Mutation_p.R568H			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	568					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CGGTGGATCCGTTCCAAATAT	0.577000													33	111					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000330386.6_Silent_p.Q2646Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000													4	60					0	0	1	0	0
SLC28A2	9153	broad.mit.edu	37	15	45554261	45554261	+	Silent	SNP	C	C	T	rs59889218		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr15:45554261C>T	ENST00000347644.3	+	4	284	c.219C>T	c.(217-219)caC>caT	p.H73H	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	73					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		GCAAAACACACGCCAGCTTGT	0.393000													4	121					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107938545	107938545	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:107938545G>T	ENST00000328300.6	+	52	5114	c.4870G>T	c.(4870-4872)Ggt>Tgt	p.G1624C	COL4A5_ENST00000361603.2_Missense_Mutation_p.G1618C	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1618	Collagen IV NC1.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGCCTCCCCTGGTTCCTGCTT	0.498000									Alport syndrome with Diffuse Leiomyomatosis				33	99					9.93527e-08	9.93527e-08	1	1	0
TP53	7157	broad.mit.edu	37	17	7576897	7576897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:7576897G>A	ENST00000420246.2	-	9	1081	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	TP53_ENST00000359597.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q317*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	317	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q317*(29)|p.0?(8)|p.Q317K(3)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317fs*28(1)|p.Q317fs*45(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCTTTGGCTGGGGAGAGGAG	0.473000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	33					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10411266	10411266	+	Silent	SNP	G	G	A	rs149473835	byFrequency	TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:10411266G>A	ENST00000226207.5	-	17	1999	c.1905C>T	c.(1903-1905)ggC>ggT	p.G635G	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	635	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTTTCCACCGCCAGCCTCTG	0.383000													28	37					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48373309	48373309	+	Silent	SNP	T	T	C			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr12:48373309T>C	ENST00000380518.3	-	41	2882	c.2718A>G	c.(2716-2718)ggA>ggG	p.G906G	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.G837G	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	906	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AGCCTGGGGGTCCAACGCGGC	0.602000													3	53					0	0	1	0	0
GPR18	0	broad.mit.edu	37	13	99908051	99908051	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr13:99908051G>A	ENST00000340807.3	-	3	632	c.76C>T	c.(76-78)Ctt>Ttt	p.L26F	GPR18_ENST00000397473.2_Missense_Mutation_p.L26F|UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.L26F			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	26						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)	TAGAAGACAAGGGCTGCAATT	0.388000													8	85					0	0	1	0	0
MKS1	54903	broad.mit.edu	37	17	56294063	56294063	+	Silent	SNP	C	C	T			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:56294063C>T	ENST00000393119.2	-	3	299	c.225G>A	c.(223-225)gaG>gaA	p.E75E	MKS1_ENST00000546108.1_5'UTR|MKS1_ENST00000313863.6_Silent_p.E75E|MKS1_ENST00000337050.7_Silent_p.E75E|MKS1_ENST00000537529.2_Silent_p.E65E	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	75					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CAATCACAATCTCCTCCTCTT	0.502000													22	51					0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55725991	55725991	+	Silent	SNP	C	C	T			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr12:55725991C>T	ENST00000379667.1	+	1	507	c.507C>T	c.(505-507)aaC>aaT	p.N169N		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GTGCTTCCAACGTCATTGATC	0.433000													45	160					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3653745	3653745	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:3653745A>G	ENST00000263087.4	-	16	2023	c.1925T>C	c.(1924-1926)cTc>cCc	p.L642P		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	642					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GAAGTACTGGAGTCCTGGGGC	0.632000													3	29					0	0	1	0	0
TPTE2P6	0	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs149337771	by1000genomes	TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104																											TTGAAACAGCTGGTGTATTAA	0.373000													3	32					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111983138	111983138	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr3:111983138C>T	ENST00000305815.5	-	9	1183	c.931G>A	c.(931-933)Gga>Aga	p.G311R	SLC9C1_ENST00000487372.1_Intron	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	311					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										ATTAGAAGTCCAAAGAAAGTA	0.244000													7	18					0	0	1	0	0
CA12	771	broad.mit.edu	37	15	63637702	63637702	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr15:63637702C>T	ENST00000178638.3	-	4	843	c.403G>A	c.(403-405)Gtc>Atc	p.V135I	CA12_ENST00000422263.2_Missense_Mutation_p.V75I|CA12_ENST00000344366.3_Missense_Mutation_p.V135I	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	135					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	TGTCCGCTGACGGTGTGCTCA	0.647000													11	21					0	0	1	0	0
CEP112	201134	broad.mit.edu	37	17	63847968	63847968	+	Missense_Mutation	SNP	T	T	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:63847968T>A	ENST00000392769.2	-	21	2566	c.2348A>T	c.(2347-2349)gAg>gTg	p.E783V	CEP112_ENST00000541355.1_Missense_Mutation_p.E418V|CEP112_ENST00000537949.1_Missense_Mutation_p.E741V|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000535342.2_Missense_Mutation_p.E783V	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	783						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CTTTTTCAGCTCTATTTTCAT	0.378000													4	142					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								23	58					0	0	1	0	0
AC093642.5	0	broad.mit.edu	37	2	243061143	243061143	+	RNA	SNP	A	A	G	rs117509304	by1000genomes	TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr2:243061143A>G	ENST00000456398.1	+	0	491																											CTTGGGAGAAACCTTTAATCG	0.358000													10	53					0	0	1	0	0
AC093642.5	0	broad.mit.edu	37	2	243061183	243061183	+	RNA	SNP	C	C	T			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr2:243061183C>T	ENST00000456398.1	+	0	531																											ATTCAAGATACCCGAAGGTTC	0.358000													8	59					0	0	1	0	0
DEGS2	123099	broad.mit.edu	37	14	100615600	100615600	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr14:100615600A>G	ENST00000305631.5	-	2	1105	c.530T>C	c.(529-531)gTc>gCc	p.V177A	DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	177					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				CTTGGGGTGGACGCAGAGCGG	0.667000													16	42					0	0	1	0	0
SERPINB5	5268	broad.mit.edu	37	18	61154285	61154285	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr18:61154285T>C	ENST00000382771.4	+	3	567	c.275T>C	c.(274-276)cTc>cCc	p.L92P	SERPINB5_ENST00000489441.1_Missense_Mutation_p.L92P	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	92					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						ATCAAGCGGCTCTACGTAGAC	0.353000													4	104					0	0	1	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013818	149013818	+	Missense_Mutation	SNP	T	T	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:149013818T>A	ENST00000535454.1	+	4	1321	c.772T>A	c.(772-774)Tac>Aac	p.Y258N	MAGEA8_ENST00000542674.1_Missense_Mutation_p.Y258N|MAGEA8_ENST00000286482.1_Missense_Mutation_p.Y258N	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	258	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGAGAACTACCTGGAGTA	0.577000													34	182					0	0	1	0	0
MTMR9	66036	broad.mit.edu	37	8	11180232	11180232	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr8:11180232G>A	ENST00000221086.3	+	10	2058	c.1585G>A	c.(1585-1587)Gtc>Atc	p.V529I	MTMR9_ENST00000526292.1_Missense_Mutation_p.V444I|AF131216.6_ENST00000498997.2_RNA	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	529						cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		ACAAGCAAAAGTCAATATCCT	0.418000													13	45					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996487	140996487	+	Silent	SNP	T	T	C			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:140996487T>C	ENST00000285879.4	+	4	3583	c.3297T>C	c.(3295-3297)ttT>ttC	p.F1099F	MAGEC1_ENST00000406005.2_Silent_p.F166F	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1099	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTATTACCTTTCCATCCTCTT	0.448000										HNSCC(15;0.026)			53	193					0	0	1	0	0
VNN1	8876	broad.mit.edu	37	6	133032924	133032924	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr6:133032924T>C	ENST00000367928.4	-	2	278	c.265A>G	c.(265-267)Agg>Ggg	p.R89G		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	89	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		AGAGAGTCCCTGTTGAAGTTC	0.433000													33	94					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578479	7578479	+	Missense_Mutation	SNP	G	G	A	rs28934874		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:7578479G>A	ENST00000420246.2	-	5	583	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TP53_ENST00000359597.4_Missense_Mutation_p.P151S|TP53_ENST00000269305.4_Missense_Mutation_p.P151S|TP53_ENST00000445888.2_Missense_Mutation_p.P151S|TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000455263.2_Missense_Mutation_p.P151S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGGGCGGGGGTGTGGAATCA	0.612000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	36					0	0	1	0	0
OFD1	8481	broad.mit.edu	37	X	13767612	13767612	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:13767612A>G	ENST00000380567.1	+	10	1347	c.475A>G	c.(475-477)Aga>Gga	p.R159G	OFD1_ENST00000380550.3_Missense_Mutation_p.R299G|OFD1_ENST00000398395.3_Missense_Mutation_p.R299G|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Missense_Mutation_p.R299G			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	299					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GCTAAGAGGAAGAGAAGCAGA	0.299000													3	42					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													6	106					0	0	1	0	0
MRC1L1	0	broad.mit.edu	37	10	17891628	17891628	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr10:17891628C>T	ENST00000331429.2	+	7	1212	c.1109C>T	c.(1108-1110)gCc>gTc	p.A370V	MRC1L1_ENST00000457317.1_Missense_Mutation_p.A370V																breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGGCCGTATGCCGGTCACTGT	0.443000													4	173					0	0	1	0	0
DTWD1	56986	broad.mit.edu	37	15	49935734	49935734	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr15:49935734A>G	ENST00000251250.6	+	6	1081	c.874A>G	c.(874-876)Aaa>Gaa	p.K292E	DTWD1_ENST00000415425.1_Missense_Mutation_p.K205E|DTWD1_ENST00000558653.1_Missense_Mutation_p.K292E|DTWD1_ENST00000403028.3_Missense_Mutation_p.K292E	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	292										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		AAAGAATGCCAAATGCTCTGG	0.289000													40	81					0	0	1	0	0
KIF9	64147	broad.mit.edu	37	3	47307320	47307320	+	Silent	SNP	G	G	C			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr3:47307320G>C	ENST00000335044.2	-	8	1173	c.816C>G	c.(814-816)ctC>ctG	p.L272L	KIF9_ENST00000444589.2_Silent_p.L272L|KIF9_ENST00000452770.2_Silent_p.L272L|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000265529.3_Silent_p.L272L|KIF9_ENST00000352910.4_Silent_p.L179L	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	272					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCAGGAATGAGAGCGATTTGT	0.542000													38	80					0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100189399	100189399	+	Silent	SNP	T	T	C			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr7:100189399T>C	ENST00000241071.6	+	4	754	c.432T>C	c.(430-432)gaT>gaC	p.D144D	FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000468962.1_Silent_p.D132D|FBXO24_ENST00000465843.1_Silent_p.D130D|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Silent_p.D182D|FBXO24_ENST00000360609.2_Silent_p.D130D	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	144						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCACCAAGGATCACGTCTTCA	0.602000													17	74					0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4718863	4718863	+	Silent	SNP	G	G	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:4718863G>A	ENST00000263088.6	+	13	1397	c.1266G>A	c.(1264-1266)ctG>ctA	p.L422L	PLD2_ENST00000572940.1_Silent_p.L422L	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	422					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CGCTGATGCTGCTGCACCCCA	0.582000											OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	136					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179419409	179419409	+	Missense_Mutation	SNP	C	C	G			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr2:179419409C>G	ENST00000589042.1	-	332	88889	c.88665G>C	c.(88663-88665)tgG>tgC	p.W29555C	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W20490C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W26987C|TTN_ENST00000342175.6_Missense_Mutation_p.W20682C|TTN_ENST00000359218.5_Missense_Mutation_p.W20615C|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W27914C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27914	Fibronectin type-III 115.						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)			CTGGAGGCCGCCAGAGAAGGG	0.473000													30	87					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29041202	29041202	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr13:29041202T>C	ENST00000282397.4	-	3	477	c.226A>G	c.(226-228)Ata>Gta	p.I76V	FLT1_ENST00000541932.1_Missense_Mutation_p.I76V|FLT1_ENST00000539099.1_Missense_Mutation_p.I76V	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	76	Ig-like C2-type 1.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GATTTAGTTATGCTCAGCCTT	0.418000													6	158					0	0	1	0	0
SNX25	83891	broad.mit.edu	37	4	186267775	186267775	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr4:186267775T>C	ENST00000504273.1	+	13	2074	c.1780T>C	c.(1780-1782)Tcg>Ccg	p.S594P	SNX25_ENST00000264694.8_Missense_Mutation_p.S594P|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	594	PX.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TATGGAAAAGTCGAAGAATCA	0.338000													9	65					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		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)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								5	98					0	0	1	0	0
PARD6B	84612	broad.mit.edu	37	20	49366352	49366352	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr20:49366352A>G	ENST00000371610.2	+	3	689	c.446A>G	c.(445-447)gAt>gGt	p.D149G	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	149	Interaction with PARD3 and CDC42 (By similarity).|Pseudo-CRIB.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						ATAGACGTGGATATTCTCCCA	0.448000													6	74					0	0	1	0	0
MADCAM1	8174	broad.mit.edu	37	19	498503	498503	+	Silent	SNP	G	G	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr19:498503G>A	ENST00000215637.3	+	3	391	c.345G>A	c.(343-345)ccG>ccA	p.P115P	MADCAM1_ENST00000587541.1_Intron|MADCAM1_ENST00000382683.4_Silent_p.P20P|MADCAM1_ENST00000346144.4_Silent_p.P115P|AC005775.2_ENST00000592413.1_RNA	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	115	Ig-like 2.				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)		CAGCCTTCCCGGACCAGCTGA	0.706000													7	24					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3679740	3679740	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr1:3679740delG	ENST00000294600.2	+	7	1107	c.1023delG	c.(1021-1023)gafs	p.E341fs		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	341	Glu-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		AGGAGGACGAGGGCCTGGAAG	0.677													2	4	---	---	---	---					
RAD54L	8438	broad.mit.edu	37	1	46743501	46743503	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr1:46743501_46743503delGAG	ENST00000371975.4	+	17	2556_2558	c.1882_1884delGAG	c.(1882-1884)del	p.E629del	RAD54L_ENST00000488942.1_3'UTR|RAD54L_ENST00000442598.1_In_Frame_Del_p.E629del	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	629	Helicase C-terminal.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AGGGACCATTGAGGAGAAGATCT	0.527								Direct reversal of damage;Homologous recombination					8	53	---	---	---	---					
ALCAM	214	broad.mit.edu	37	3	105266056	105266057	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr3:105266056_105266057delTA	ENST00000306107.5	+	10	1668_1669	c.1168_1169delTA	c.(1168-1170)tfs	p.Y390fs	ALCAM_ENST00000389927.4_Frame_Shift_Del_p.Y112fs|ALCAM_ENST00000472644.2_Frame_Shift_Del_p.Y390fs|ALCAM_ENST00000486979.2_Frame_Shift_Del_p.Y339fs	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	390	Ig-like C2-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGCTGGAAACTATGTCTGCGAA	0.381													35	94	---	---	---	---					
HHLA2	11148	broad.mit.edu	37	3	108072600	108072603	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr3:108072600_108072603delACAA	ENST00000357759.5	+	4	805_808	c.391_394delACAA	c.(391-396)acfs	p.TN131fs	HHLA2_ENST00000489514.2_Frame_Shift_Del_p.TN131fs|HHLA2_ENST00000467562.1_Frame_Shift_Del_p.TN67fs|HHLA2_ENST00000491820.1_Frame_Shift_Del_p.TN131fs|HHLA2_ENST00000467761.1_Frame_Shift_Del_p.TN131fs	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	131	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TCAAGTGATTACAAACAAAGTGGT	0.382													8	30	---	---	---	---					
BAI1	575	broad.mit.edu	37	8	143603376	143603378	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr8:143603376_143603378delCTT	ENST00000517894.1	+	21	3969_3971	c.3075_3077delCTT	c.(3073-3078)tcc>tc	p.SF1025del	BAI1_ENST00000323289.5_In_Frame_Del_p.SF1025del			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1025					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCCTGTCCTCCTTCTGCTGGGTG	0.695													11	15	---	---	---	---					
RPL35	11224	broad.mit.edu	37	9	127623796	127623798	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr9:127623796_127623798delCTT	ENST00000373570.4	-	2	42_44	c.40_42delAAG	c.(40-42)del	p.K14del	RPL35_ENST00000348462.3_In_Frame_Del_p.K14del			P42766	RL35_HUMAN	ribosomal protein L35	14					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4				GBM - Glioblastoma multiforme(294;0.182)		GCAGCTCCTCCTTCTTCTTCCCG	0.621													22	62	---	---	---	---					
PLXNC1	10154	broad.mit.edu	37	12	94673311	94673314	+	Frame_Shift_Del	DEL	TCAG	TCAG	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr12:94673311_94673314delTCAG	ENST00000258526.4	+	22	3910_3913	c.3661_3664delTCAG	c.(3661-3666)tcfs	p.SV1221fs	PLXNC1_ENST00000545312.1_5'UTR|RP11-1105G2.3_ENST00000551941.1_Intron|PLXNC1_ENST00000547057.1_Frame_Shift_Del_p.SV268fs	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1221					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCGGAATATTTCAGTCAATGTTCT	0.402													34	94	---	---	---	---					
SMOC1	64093	broad.mit.edu	37	14	70442502	70442502	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr14:70442502delC	ENST00000381280.4	+	4	702	c.449delC	c.(448-450)ttfs	p.S150fs	SMOC1_ENST00000361956.3_Frame_Shift_Del_p.S150fs	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	150	Thyroglobulin type-1 1.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	p.S150F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AGTGGCTCTTCTGTGCAGAAT	0.522													18	47	---	---	---	---					
SMARCA4	6597	broad.mit.edu	37	19	11135109	11135111	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr19:11135109_11135111delAAG	ENST00000358026.2	+	21	3360_3362	c.3076_3078delAAG	c.(3076-3078)del	p.K1027del	SMARCA4_ENST00000413806.3_In_Frame_Del_p.K1027del|SMARCA4_ENST00000444061.3_In_Frame_Del_p.K1027del|SMARCA4_ENST00000429416.3_In_Frame_Del_p.K1027del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.K1027del|SMARCA4_ENST00000450717.3_In_Frame_Del_p.K1027del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.K1027del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.K1027del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.K1027del	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1027					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGAGAAGGACAAGAAGGTGGGCC	0.626			"""F, N, Mis"""		NSCLC								16	34	---	---	---	---					
AC002472.11	0	broad.mit.edu	37	22	21396684	21396686	+	RNA	DEL	AAG	AAG	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr22:21396684_21396686delAAG	ENST00000450652.1	+	0	147				P2RX6P_ENST00000439119.1_RNA																							GTTGGTCACCAAGAAGAACACGT	0.571													4	7	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76918921	76918921	+	Frame_Shift_Del	DEL	T	T	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:76918921delT	ENST00000373344.5	-	12	4284	c.4070delA	c.(4069-4071)agfs	p.K1357fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1319fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1357					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AGGCTTTGTCTTTTTTTCTTC	0.383			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						44	111	---	---	---	---