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
GUCY1A3	2982	broad.mit.edu	37	4	156631929	156631929	+	Silent	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:156631929C>T	ENST00000296518.7	+	6	821	c.612C>T	c.(610-612)taC>taT	p.Y204Y	GUCY1A3_ENST00000455639.2_Silent_p.Y204Y|GUCY1A3_ENST00000511108.1_Silent_p.Y204Y|GUCY1A3_ENST00000506455.1_Silent_p.Y204Y|GUCY1A3_ENST00000511507.1_Silent_p.Y204Y|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000513574.1_Silent_p.Y204Y			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	204					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ATGTTTACTACTTCTTCCCTA	0.473000													5	51					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													5	145					0	0	1	0	0
ST5	6764	broad.mit.edu	37	11	8751512	8751512	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr11:8751512C>T	ENST00000534127.1	-	6	1710	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	ST5_ENST00000313726.6_Missense_Mutation_p.R442H|ST5_ENST00000357665.1_Missense_Mutation_p.R442H|ST5_ENST00000530438.1_Intron|ST5_ENST00000526757.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	442	Interaction with ABL1.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTGGGACTTGCGGTGACCACG	0.577000													4	245					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13762997	13762997	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr5:13762997T>C	ENST00000265104.4	-	60	10219	c.10115A>G	c.(10114-10116)gAc>gGc	p.D3372G	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3372	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTGATTGTGTCTTTTGGGAA	0.368000									Kartagener syndrome				15	26					0	0	1	0	0
MCU	90550	broad.mit.edu	37	10	74631207	74631207	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr10:74631207G>C	ENST00000536019.1	+	6	1028	c.583G>C	c.(583-585)Gcc>Ccc	p.A195P	MCU_ENST00000357157.6_Missense_Mutation_p.A223P|MCU_ENST00000373053.3_Missense_Mutation_p.A244P|MCU_ENST00000605416.1_3'UTR	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	244					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						TGCCTACATGGCCACACAGTT	0.483000													57	50					0	0	1	0	0
PCDHA1	0	broad.mit.edu	37	5	140167778	140167778	+	Missense_Mutation	SNP	C	C	T	rs144781571		TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr5:140167778C>T	ENST00000504120.2	+	1	1903	c.1903C>T	c.(1903-1905)Cgt>Tgt	p.R635C	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R635C	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCACGACTCGTGTCCTGGA	0.652000													24	32					0	0	1	0	0
TREM2	54209	broad.mit.edu	37	6	41129257	41129257	+	Silent	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr6:41129257C>T	ENST00000373113.3	-	2	228	c.135G>A	c.(133-135)ggG>ggA	p.G45G	TREM2_ENST00000338469.3_Silent_p.G45G|TREM2_ENST00000373122.4_Silent_p.G45G	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	45	Ig-like V-type.				axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTTGCGCCTCCCCCAGTGCT	0.652000													11	27					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103355017	103355017	+	Silent	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr1:103355017C>T	ENST00000358392.2	-	59	4811	c.4494G>A	c.(4492-4494)ggG>ggA	p.G1498G	COL11A1_ENST00000512756.1_Silent_p.G1370G|COL11A1_ENST00000353414.4_Silent_p.G1447G|COL11A1_ENST00000370096.3_Silent_p.G1486G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1486	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCACCCCATCCCCTTTTGCTC	0.438000													32	44					0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111591740	111591740	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr11:111591740C>T	ENST00000304987.3	+	12	2071	c.1898C>T	c.(1897-1899)gCg>gTg	p.A633V		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	633					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CCTAACCTGGCGCCGGCGGCT	0.532000													44	44					0	0	1	0	0
PTPN11	5781	broad.mit.edu	37	12	112926872	112926872	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr12:112926872C>T	ENST00000351677.2	+	13	1690	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	502	Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CCAGATGGTGCGGTCTCAGAG	0.458000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				64	73					0	0	1	0	0
DNM1P34	0	broad.mit.edu	37	15	75594984	75594984	+	RNA	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr15:75594984C>T	ENST00000567292.1	-	0	322																											CCATTCTCCTCGGCCTTGCTG	0.622000													6	14					0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125867117	125867117	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr11:125867117G>A	ENST00000392693.3	-	12	2474	c.2347C>T	c.(2347-2349)Cgt>Tgt	p.R783C	CDON_ENST00000531738.1_Missense_Mutation_p.R160C|CDON_ENST00000263577.7_Missense_Mutation_p.R783C	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	783	Fibronectin type-III 2.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TCTAAACTACGAACTTCCACT	0.403000													6	96					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr17:7577022G>A	ENST00000420246.2	-	8	1048	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (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.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)		TGCTTACCTCGCTTAGTGCTC	0.562000	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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)			33	30					0	0	1	0	0
TREM2	54209	broad.mit.edu	37	6	41129082	41129082	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr6:41129082C>G	ENST00000373113.3	-	2	403	c.310G>C	c.(310-312)Gat>Cat	p.D104H	TREM2_ENST00000338469.3_Missense_Mutation_p.D104H|TREM2_ENST00000373122.4_Missense_Mutation_p.D104H	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	104	Ig-like V-type.				axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGACCCGCATCATGGGGTTGT	0.607000													12	62					0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101092592	101092592	+	Silent	SNP	A	A	G			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chrX:101092592A>G	ENST00000537026.1	-	15	1313	c.954T>C	c.(952-954)tgT>tgC	p.C318C	NXF5_ENST00000473265.2_Silent_p.C318C|NXF5_ENST00000361708.2_Silent_p.C318C	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	318	NTF2; truncated.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CGTTTCGTGGACATTTTGTGT	0.537000													36	78					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51750758	51750758	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr15:51750758G>C	ENST00000251076.5	-	35	8364	c.8077C>G	c.(8077-8079)Ctg>Gtg	p.L2693V	RP11-707P17.2_ENST00000559977.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.L2694V|RP11-707P17.1_ENST00000561007.1_RNA|RP11-707P17.2_ENST00000559173.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.L2057V|RP11-707P17.2_ENST00000560727.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2693						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGACAGGCCAGTAGAGAAGTA	0.348000													15	35					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761796	96761796	+	Silent	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:96761796C>T	ENST00000295266.4	+	1	558	c.495C>T	c.(493-495)gtC>gtT	p.V165V		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	165					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ATGGCATCGTCGGTGCACAGG	0.507000													35	48					0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150718390	150718390	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr7:150718390A>G	ENST00000605938.1	-	5	923	c.848T>C	c.(847-849)cTc>cCc	p.L283P	ATG9B_ENST00000605952.1_Missense_Mutation_p.L283P|ATG9B_ENST00000444312.1_Missense_Mutation_p.S21P|ATG9B_ENST00000377974.2_Missense_Mutation_p.L283P|ATG9B_ENST00000494791.1_5'UTR	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	283					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACCAGGAGGAGGACCAGCAG	0.627000													15	7					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10464804	10464804	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr19:10464804C>T	ENST00000525621.1	-	20	3303	c.2822G>A	c.(2821-2823)cGc>cAc	p.R941H	TYK2_ENST00000264818.6_Missense_Mutation_p.R941H|TYK2_ENST00000524462.1_Missense_Mutation_p.R756H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	941	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCAGCCCGAGCGGTGCTGGGG	0.622000													48	58					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104103892	104103892	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr10:104103892G>A	ENST00000369983.3	+	4	508	c.248G>A	c.(247-249)gGa>gAa	p.G83E		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	83					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCTATCACTGGACTGGCACTC	0.468000													5	112					0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24952593	24952593	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr2:24952593G>A	ENST00000405141.1	+	18	3821	c.3110G>A	c.(3109-3111)gGc>gAc	p.G1037D	NCOA1_ENST00000395856.3_Missense_Mutation_p.G1037D|NCOA1_ENST00000538539.1_Missense_Mutation_p.G1037D|NCOA1_ENST00000348332.3_Missense_Mutation_p.G1037D|NCOA1_ENST00000288599.5_Missense_Mutation_p.G1037D|NCOA1_ENST00000407230.1_Missense_Mutation_p.G886D|NCOA1_ENST00000406961.1_Missense_Mutation_p.G1037D			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1037									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGGCATGGGCATGCAGCCC	0.542000			T	PAX3	alveolar rhadomyosarcoma								4	152					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39828703	39828703	+	Splice_Site	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr6:39828703G>A	ENST00000538976.1	+	3	350		c.e3-1		DAAM2_ENST00000398904.2_Splice_Site|DAAM2_ENST00000274867.4_Splice_Site|DAAM2_ENST00000405961.3_Splice_Site|DAAM2_ENST00000494405.1_Splice_Site	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2						actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGTCTTTGCAGGATGAATTGG	0.448000													12	14					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55136821	55136821	+	Silent	SNP	G	G	C			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:55136821G>C	ENST00000257290.5	+	8	1474	c.1143G>C	c.(1141-1143)ctG>ctC	p.L381L	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	381	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AATTAAAGCTGATCCGTGCTA	0.333000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			93	341					0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119012955	119012955	+	Silent	SNP	T	T	C			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr10:119012955T>C	ENST00000298472.5	+	4	653	c.510T>C	c.(508-510)ttT>ttC	p.F170F	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	170					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GCATCATGTTTGTCTCAACAA	0.428000													39	81					0	0	1	0	0
UTP14A	10813	broad.mit.edu	37	X	129060301	129060301	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chrX:129060301G>A	ENST00000394422.3	+	14	2057	c.2029G>A	c.(2029-2031)Gca>Aca	p.A677T	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371042.3_Missense_Mutation_p.A509T|UTP14A_ENST00000425117.2_Missense_Mutation_p.A625T|UTP14A_ENST00000371051.5_Missense_Mutation_p.A623T	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	677					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CAACATCCACGCAGCTGCTCA	0.453000											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	81					0	0	1	0	0
KRT13	3860	broad.mit.edu	37	17	39658985	39658985	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr17:39658985C>T	ENST00000246635.3	-	5	1023	c.977G>A	c.(976-978)cGc>cAc	p.R326H	KRT13_ENST00000336861.3_Missense_Mutation_p.R326H|KRT13_ENST00000587544.1_Missense_Mutation_p.R326H	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	326	Coil 2.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.R326H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TTGGAGCGTGCGCCTGAGCTC	0.577000													80	97					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40354340	40354340	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr19:40354340C>T	ENST00000221347.6	-	35	16136	c.16129G>A	c.(16129-16131)Ggg>Agg	p.G5377R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5377	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTCTGGTCCCCGTCAAAGTTT	0.557000													12	17					0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74632093	74632093	+	Splice_Site	SNP	G	G	A	rs139449608		TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr15:74632093G>A	ENST00000358632.4	-	6	1213	c.516_splice	c.e6-1	p.T173_splice	CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000419019.2_Splice_Site_p.T173_splice|CYP11A1_ENST00000268053.6_Splice_Site_p.T331_splice	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	331					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GGTCATGGACGTCTGGTGGGG	0.582000													5	35					0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46135856	46135856	+	Silent	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr6:46135856C>T	ENST00000371383.2	-	3	404	c.144G>A	c.(142-144)acG>acA	p.T48T	ENPP5_ENST00000230565.3_Silent_p.T48T			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	48						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						GAAAATGGGGCGTTGGAACTT	0.353000													16	22					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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								27	50					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			7	15					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7814264	7814264	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr17:7814264C>T	ENST00000380358.4	+	39	6032	c.6031C>T	c.(6031-6033)Cag>Tag	p.Q2011*	CHD3_ENST00000330494.7_Nonsense_Mutation_p.Q1952*|CHD3_ENST00000358181.4_Nonsense_Mutation_p.Q1918*	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1952					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAATTACAGCCAGATGCCTGC	0.642000													22	29					0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124252770	124252770	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr11:124252770G>A	ENST00000375013.2	-	1	488	c.470C>T	c.(469-471)aCg>aTg	p.T157M		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGTGTGGGCCGTGGCTCCAGC	0.502000													9	10					0	0	1	0	0
EFNB1	1947	broad.mit.edu	37	X	68060348	68060348	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chrX:68060348G>A	ENST00000204961.4	+	5	1672	c.892G>A	c.(892-894)Gag>Aag	p.E298K		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	298					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						AGCGGGCACCGAGCCCAGCGA	0.627000													3	19					0	0	1	0	0
MYL1	4632	broad.mit.edu	37	2	211158461	211158461	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr2:211158461C>T	ENST00000352451.3	-	5	689	c.542G>A	c.(541-543)tGc>tAc	p.C181Y	MYL1_ENST00000341685.4_Missense_Mutation_p.C137Y|MYL1_ENST00000496436.1_5'UTR	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	181	EF-hand 3.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GTAGTTGATGCAGCCATTGGA	0.443000													4	237					0	0	1	0	0
EEPD1	80820	broad.mit.edu	37	7	36194133	36194133	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr7:36194133A>G	ENST00000242108.4	+	2	918	c.200A>G	c.(199-201)tAc>tGc	p.Y67C	EEPD1_ENST00000534978.1_Missense_Mutation_p.Y67C	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	67	HhH.				DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						ATCGTGGAGTACCGAGAGTAT	0.582000													46	56					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539151	56539151	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr19:56539151C>T	ENST00000390649.3	+	7	1552	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	518	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CGTGGTCCGGCGCTGTCTCAA	0.592000													16	14					0	0	1	0	0
MARK3	4140	broad.mit.edu	37	14	103915254	103915254	+	Splice_Site	SNP	A	A	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr14:103915254A>T	ENST00000429436.2	+	4	807		c.e4-1		MARK3_ENST00000303622.9_Splice_Site|MARK3_ENST00000216288.7_Splice_Site|MARK3_ENST00000553942.1_Splice_Site|MARK3_ENST00000561071.1_Splice_Site|MARK3_ENST00000440884.3_Splice_Site|MARK3_ENST00000416682.2_Splice_Site|MARK3_ENST00000335102.5_Splice_Site	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3								ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			TTTTTTTTTTAGCTCTTCAGA	0.259000													5	85					0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23326313	23326313	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr10:23326313C>T	ENST00000298032.5	+	19	2608	c.2524C>T	c.(2524-2526)Ccc>Tcc	p.P842S	ARMC3_ENST00000376528.4_Missense_Mutation_p.P579S|ARMC3_ENST00000409983.3_Missense_Mutation_p.P835S	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	842							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGGGGGCCTCCCCGCTCCTGA	0.502000													21	70					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70359499	70359499	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:70359499T>A	ENST00000305107.6	-	2	828	c.782A>T	c.(781-783)tAc>tTc	p.Y261F	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.Y261F|UGT2B4_ENST00000381096.3_Missense_Mutation_p.Y125F	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	261					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AAAATCCCAGTAGTTTCGAAT	0.423000													58	72					0	0	1	0	0
REM1	28954	broad.mit.edu	37	20	30064294	30064294	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr20:30064294C>T	ENST00000201979.2	+	2	339	c.46C>T	c.(46-48)Cga>Tga	p.R16*	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	16					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	p.R16R(1)		kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TCTGCACCGGCGAGCCAGCAC	0.617000													20	25					0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72366364	72366364	+	Missense_Mutation	SNP	G	G	A	rs139896303		TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr12:72366364G>A	ENST00000333850.3	+	6	815	c.674G>A	c.(673-675)cGg>cAg	p.R225Q		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	225					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GTTGTATTCCGGGAGCTCTCC	0.453000													103	205					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141545331	141545331	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:141545331A>G	ENST00000442267.2	-	20	3091	c.3017T>C	c.(3016-3018)cTg>cCg	p.L1006P		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1006						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGGAGTCCACAGTCTCAAATA	0.358000													3	26					0	0	1	0	0
SUPT20H	55578	broad.mit.edu	37	13	37618313	37618313	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr13:37618313C>T	ENST00000360252.4	-	7	548	c.301G>A	c.(301-303)Gag>Aag	p.E101K	SUPT20H_ENST00000475892.1_Missense_Mutation_p.E100K|SUPT20H_ENST00000356185.3_Missense_Mutation_p.E101K|SUPT20H_ENST00000464744.1_Missense_Mutation_p.E101K|SUPT20H_ENST00000350612.6_Missense_Mutation_p.E100K|SUPT20H_ENST00000470359.2_5'UTR|SUPT20H_ENST00000542180.1_Missense_Mutation_p.E88K	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1			suppressor of Ty 20 homolog (S. cerevisiae)																		CGAATGGTCTCGGAATCTTAA	0.333000													21	40					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55136846	55136846	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:55136846G>A	ENST00000257290.5	+	8	1499	c.1168G>A	c.(1168-1170)Ggc>Agc	p.G390S	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	390	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGAAGACAGTGGCCATTATAC	0.348000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			93	355					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76909647	76909647	+	Nonsense_Mutation	SNP	T	T	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chrX:76909647T>A	ENST00000373344.5	-	14	4472	c.4258A>T	c.(4258-4260)Aaa>Taa	p.K1420*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.K1382*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1420					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)	TTTTTCTGTTTATAGCTCCGC	0.323000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						72	71					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55136837	55136837	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:55136837G>A	ENST00000257290.5	+	8	1490	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	387	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TGCTAAGGAAGAAGACAGTGG	0.338000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			93	357					0	0	1	0	0
SHMT1	6470	broad.mit.edu	37	17	18233958	18233958	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr17:18233958A>G	ENST00000316694.3	-	10	1216	c.1082T>C	c.(1081-1083)gTg>gCg	p.V361A	SHMT1_ENST00000354098.3_Missense_Mutation_p.V322A|SHMT1_ENST00000539052.1_Missense_Mutation_p.V223A|SHMT1_ENST00000352886.6_Missense_Mutation_p.V281A	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	361					carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	ACGGAGATCCACAAGGATCAA	0.478000													15	27					0	0	1	0	0
C12orf63	0	broad.mit.edu	37	12	97085074	97085074	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr12:97085074A>T	ENST00000524981.3	+	11	1603	c.1603A>T	c.(1603-1605)Agg>Tgg	p.R535W				Q6ZTY8	CL063_HUMAN		509										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GCACTTTGTTAGGCAAAACCT	0.333000													31	30					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102023226	102023226	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr12:102023226G>A	ENST00000549145.1	+	5	257	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E65K|MYBPC1_ENST00000550270.1_Missense_Mutation_p.E40K|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E65K|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E26K|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E14K|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E40K|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E40K|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E28K|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E40K|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E40K|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E40K|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E40K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E27K|MYBPC1_ENST00000551300.1_5'UTR			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	40					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GACCCTTGTCGAAACTCCTCC	0.483000													4	43					0	0	1	0	0
GLS	2744	broad.mit.edu	37	2	191795225	191795225	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr2:191795225G>T	ENST00000320717.3	+	13	1746	c.1488G>T	c.(1486-1488)atG>atT	p.M496I	GLS_ENST00000409215.1_Start_Codon_SNP_p.M1I|GLS_ENST00000409626.1_Missense_Mutation_p.M67I|GLS_ENST00000409428.1_Start_Codon_SNP_p.M1I|GLS_ENST00000338435.4_Missense_Mutation_p.M496I	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	496					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCAATGTTATGGGTATGATGT	0.383000													35	58					2.09667e-21	2.13048e-21	1	1	0
FIP1L1	81608	broad.mit.edu	37	4	54308818	54308818	+	Splice_Site	SNP	A	A	C			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:54308818A>C	ENST00000337488.6	+	14	1368		c.e14-1		FIP1L1_ENST00000306932.6_Splice_Site|FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Splice_Site	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1						mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGAATGTTTCAGGTTTTCCTC	0.353000			T	PDGFRA	idiopathic hypereosinophilic syndrome								1095	72					0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110036055	110036055	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr11:110036055G>A	ENST00000453089.2	+	5	3033	c.2152G>A	c.(2152-2154)Gac>Aac	p.D718N	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.D750N|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.D749N			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	749							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CACGAGAATAGACAGCATCTC	0.577000													44	48					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21185916	21185916	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr10:21185916C>A	ENST00000377122.4	-	2	520	c.124G>T	c.(124-126)Gcc>Tcc	p.A42S	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.A42S|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	42					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CATTTTCTGGCCAATTCCATG	0.338000													21	151					8.10497e-08	8.10497e-08	1	1	0
PDGFRA	5156	broad.mit.edu	37	4	55151636	55151636	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:55151636delT	ENST00000257290.5	+	17	2753	c.2422delT	c.(2422-2424)ttfs	p.F808fs	FIP1L1_ENST00000507166.1_Frame_Shift_Del_p.F568fs	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	808	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.F808L(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGGAATGGAGTTTTTGGCTTC	0.418			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			7	2181	---	---	---	---					
CCDC109B	55013	broad.mit.edu	37	4	110581443	110581443	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:110581443delT	ENST00000394650.4	+	3	401	c.268delT	c.(268-270)tgfs	p.L90fs	CCDC109B_ENST00000515114.1_3'UTR	NM_017918.4	NP_060388.2	Q9NWR8	C109B_HUMAN	coiled-coil domain containing 109B	90						integral to membrane				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		CAAACCAATGTTGTCAACAGT	0.363													23	26	---	---	---	---					
POU3F2	5454	broad.mit.edu	37	6	99282842	99282842	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr6:99282842delG	ENST00000328345.5	+	1	263	c.93delG	c.(91-93)gcfs	p.A31fs		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	31					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		AGCAGGGCGCGGGGGGCTACC	0.701													2	4	---	---	---	---					
XKR5	389610	broad.mit.edu	37	8	6679301	6679302	+	RNA	DEL	CA	CA	-			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr8:6679301_6679302delCA	ENST00000518724.1	-	0	958							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGCATTGGTGcacacacacaca	0.401													3	4	---	---	---	---					
GOLGA2B	0	broad.mit.edu	37	12	100564322	100564322	+	RNA	DEL	G	G	-			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr12:100564322delG	ENST00000397112.4	-	0	599					NR_036632.1															large_intestine(1)|lung(3)	4						GCCAGGGGATGGGGCAGGCGG	0.582													2	4	---	---	---	---					
SPTBN5	51332	broad.mit.edu	37	15	42170651	42170652	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr15:42170651_42170652delCT	ENST00000320955.6	-	17	3585_3586	c.3358_3359delAG	c.(3358-3360)tfs	p.S1120fs		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1120					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AGCCTGGACACTCTCTGCCCAC	0.639													9	16	---	---	---	---					
SCAF1	58506	broad.mit.edu	37	19	50155567	50155569	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr19:50155567_50155569delAAG	ENST00000360565.3	+	7	2045_2047	c.1921_1923delAAG	c.(1921-1923)del	p.K645del		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	645	Arg-rich.|Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TGGCGGCAGCAAGAAGAAGAAGA	0.744													2	4	---	---	---	---					
FRG1B	0	broad.mit.edu	37	20	29628226	29628226	+	Splice_Site	DEL	G	G	-	rs78710112	by1000genomes	TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr20:29628226delG	ENST00000278882.3	+	6	608		c.e6-1		FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTTCACTTAGGGGAAAATGG	0.358													7	124	---	---	---	---					
HIC2	23119	broad.mit.edu	37	22	21800304	21800304	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr22:21800304delC	ENST00000443632.2	+	2	1492	c.1120delC	c.(1120-1122)ccfs	p.P374fs	HIC2_ENST00000407598.2_Frame_Shift_Del_p.P374fs|HIC2_ENST00000407464.2_Frame_Shift_Del_p.P374fs			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	374					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GGACAGGGTTCCCAATGGCAT	0.667													2	4	---	---	---	---