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
STAC3	246329	broad.mit.edu	37	12	57642553	57642553	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr12:57642553C>T	ENST00000332782.2	-	4	569	c.368G>A	c.(367-369)tGc>tAc	p.C123Y	STAC3_ENST00000546246.2_Intron|STAC3_ENST00000554578.1_Missense_Mutation_p.C84Y	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	123					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						GTTGGTTTTGCAGTTCTTACA	0.488000													5	365					0	0	1	0	0
IL13RA1	3597	broad.mit.edu	37	X	117875042	117875042	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chrX:117875042A>G	ENST00000371666.3	+	2	218	c.151A>G	c.(151-153)Aca>Gca	p.T51A	IL13RA1_ENST00000371642.1_Missense_Mutation_p.T51A	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	51						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						AGTAATATGGACATGGAATCC	0.378000													8	42					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	A	rs121912656		TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr17:7577547C>A	ENST00000420246.2	-	7	866	c.734G>T	c.(733-735)gGc>gTc	p.G245V	TP53_ENST00000445888.2_Missense_Mutation_p.G245V|TP53_ENST00000359597.4_Missense_Mutation_p.G245V|TP53_ENST00000269305.4_Missense_Mutation_p.G245V|TP53_ENST00000413465.2_Missense_Mutation_p.G245V|TP53_ENST00000455263.2_Missense_Mutation_p.G245V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (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.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CCGGTTCATGCCGCCCATGCA	0.582000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	15					1.22574e-08	1.25887e-08	1	1	0
DCUN1D4	23142	broad.mit.edu	37	4	52777312	52777312	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr4:52777312T>C	ENST00000334635.5	+	9	872	c.692T>C	c.(691-693)cTt>cCt	p.L231P	DCUN1D4_ENST00000381441.3_Intron|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	231	DCUN1.									endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			ATCTGGCCCCTTTTTCCAGTT	0.383000													3	49					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79433549	79433549	+	Splice_Site	SNP	A	A	G			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr14:79433549A>G	ENST00000554719.1	+	10	2149		c.e10-1		NRXN3_ENST00000335750.5_Splice_Site	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3						angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TTTTCTTCCTAGGTATATACA	0.423000													7	16					0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93730194	93730194	+	Silent	SNP	C	C	T			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr14:93730194C>T	ENST00000334746.5	-	4	1615	c.1308G>A	c.(1306-1308)tcG>tcA	p.S436S	BTBD7_ENST00000393170.2_Intron|BTBD7_ENST00000554565.1_Silent_p.S85S	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	436										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AAAAAACATCCGAAGTCATGA	0.423000													19	58					0	0	1	0	0
GLUD1P2	0	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr10:48968566A>G	ENST00000594520.1	+	0	723																											ACAGGATAACAAACTGGAAAA	0.318000													5	45					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52822010	52822010	+	Silent	SNP	C	C	T			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr3:52822010C>T	ENST00000273283.2	+	17	1957	c.1933C>T	c.(1933-1935)Ctg>Ttg	p.L645L	ITIH1_ENST00000405128.3_Silent_p.L11L|ITIH1_ENST00000542827.1_Intron|ITIH1_ENST00000540715.1_Silent_p.L503L|ITIH1_ENST00000537050.1_Silent_p.L357L	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	645	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		AGCGTTCGTGCTGTCAGCCTT	0.607000													34	58					0	0	1	0	0
TCP10	6953	broad.mit.edu	37	6	167796320	167796320	+	Silent	SNP	G	G	A			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:167796320G>A	ENST00000366827.2	-	2	253	c.42C>T	c.(40-42)gaC>gaT	p.D14D	TCP10_ENST00000397829.4_Silent_p.D14D|TCP10_ENST00000476779.2_Silent_p.D14D			Q12799	TCP10_HUMAN	t-complex 10	41						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CGGCATTGCTGTCCTCCCTGG	0.652000													3	8					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5402311	5402311	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr7:5402311C>G	ENST00000399537.4	-	12	4713	c.4365G>C	c.(4363-4365)aaG>aaC	p.K1455N	TNRC18_ENST00000430969.1_Missense_Mutation_p.K1455N			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1455							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCCAGCTGTACTTCTTGTTGG	0.677000													4	1					0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169100462	169100462	+	Splice_Site	SNP	T	T	C			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr4:169100462T>C	ENST00000359299.3	+	9	909	c.724_splice	c.e9+1	p.I241_splice		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	241							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		TGGTTGCAATTGGTAAGTAAT	0.338000													6	2					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103141552	103141552	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr2:103141552C>T	ENST00000295269.4	+	10	2345	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	630					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GATTCTGATCCGCCGCCAGAA	0.502000													5	150					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60802387	60802387	+	Silent	SNP	G	G	A			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr17:60802387G>A	ENST00000544856.2	-	8	2391	c.2013C>T	c.(2011-2013)ccC>ccT	p.P671P	RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000311269.5_Silent_p.P672P|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000583600.1_Silent_p.P710P|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000456609.2_Silent_p.P672P			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	672							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GCTCCAGGAGGGGGTTGCTTG	0.537000													31	43					0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13896294	13896294	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr3:13896294C>T	ENST00000285018.4	-	3	609	c.305G>A	c.(304-306)cGg>cAg	p.R102Q		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	102					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CGCAGCCTCCCGGCTCCCTGC	0.622000													9	37					0	0	1	0	0
SNX9	51429	broad.mit.edu	37	6	158357011	158357011	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:158357011A>G	ENST00000392185.3	+	14	1553	c.1382A>G	c.(1381-1383)aAt>aGt	p.N461S		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	461	BAR.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		ACAGATCTCAATGATGCAATA	0.303000													10	20					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20269322	20269322	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr20:20269322G>T	ENST00000245957.5	+	23	2942	c.2866G>T	c.(2866-2868)Gtg>Ttg	p.V956L	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	956										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGCATGTCTTGTGTATGACAG	0.418000													60	106					3.13765e-25	3.31197e-25	1	1	0
RBM12	10137	broad.mit.edu	37	20	34240878	34240878	+	Silent	SNP	A	A	G			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr20:34240878A>G	ENST00000374114.3	-	3	2630	c.2367T>C	c.(2365-2367)ccT>ccC	p.P789P	RBM12_ENST00000359646.1_Silent_p.P789P|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000374104.3_Silent_p.P789P|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	789	Gly-rich.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CAAAATTCTGAGGGCCCCCTC	0.572000													3	34					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C			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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								15	29					0	0	1	0	0
LRP8	7804	broad.mit.edu	37	1	53736990	53736990	+	Silent	SNP	G	G	A			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr1:53736990G>A	ENST00000306052.6	-	7	1136	c.1035C>T	c.(1033-1035)ggC>ggT	p.G345G	LRP8_ENST00000354412.3_Silent_p.G216G|LRP8_ENST00000347547.2_Silent_p.G175G|LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Silent_p.G345G	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	345	EGF-like 1.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GTGAGCAGCCGCCATTGTTGT	0.612000													5	59					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7045239	7045239	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr12:7045239C>G	ENST00000356654.4	+	5	1046	c.809C>G	c.(808-810)gCt>gGt	p.A270G	ATN1_ENST00000396684.2_Missense_Mutation_p.A270G	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	270					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GCTAGTGGTGCTCCCCCAACA	0.627000													9	27					0	0	1	0	0
SNHG14	0	broad.mit.edu	37	15	25415763	25415763	+	RNA	SNP	C	C	T			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr15:25415763C>T	ENST00000549301.1	+	0	277				SNHG14_ENST00000553149.1_RNA																							GCCCCCGGTGCGCTGAAGCTC	0.657000													10	20					0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26104708	26104708	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr1:26104708G>A	ENST00000374332.4	+	9	1700	c.1370G>A	c.(1369-1371)gGc>gAc	p.G457D	MAN1C1_ENST00000374329.1_Missense_Mutation_p.G228D|MAN1C1_ENST00000263979.3_Missense_Mutation_p.G277D	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	457					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		TTCTCCGGGGGCATGATCGCC	0.612000													18	21					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			3	13					0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101612660	101612660	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr8:101612660C>T	ENST00000311812.2	-	9	841	c.691G>A	c.(691-693)Gac>Aac	p.D231N	SNX31_ENST00000428383.2_Missense_Mutation_p.D132N	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	231					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TTTTCAATGTCCTGTATTGCC	0.348000													38	80					0	0	1	0	0
GATA6	2627	broad.mit.edu	37	18	19751274	19751274	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr18:19751274G>A	ENST00000269216.3	+	2	446	c.169G>A	c.(169-171)Gcc>Acc	p.A57T	GATA6_ENST00000581694.1_Missense_Mutation_p.A57T	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	57					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			CCCCGGCGGCGCCAGCAACTG	0.741000													4	3					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64408211	64408211	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:64408211A>G	ENST00000262043.3	+	7	3119	c.2779A>G	c.(2779-2781)Atc>Gtc	p.I927V	PHF3_ENST00000393387.1_Missense_Mutation_p.I927V			Q92576	PHF3_HUMAN	PHD finger protein 3	927	TFIIS central.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TGCAGATCAGATCAGGCAAAG	0.343000													44	109					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51484035	51484035	+	Silent	SNP	G	G	A			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:51484035G>A	ENST00000371117.3	-	67	12344	c.12069C>T	c.(12067-12069)gaC>gaT	p.D4023D	RP3-335N17.2_ENST00000589278.1_RNA|RP3-335N17.2_ENST00000454361.1_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	4023					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTTGTCTGAAGTCTGGGCATA	0.567000													10	23					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048095	9048095	+	Missense_Mutation	SNP	G	G	T	rs72486386	by1000genomes	TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr19:9048095G>T	ENST00000397910.4	-	5	33739	c.33536C>A	c.(33535-33537)aCc>aAc	p.T11179N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11181	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAAGTTGTGGTCTCTGGTTC	0.468000													3	27					1	1	1	1	0
OR5AP2	338675	broad.mit.edu	37	11	56409457	56409457	+	Silent	SNP	G	G	C			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr11:56409457G>C	ENST00000544374.1	-	1	490	c.462C>G	c.(460-462)acC>acG	p.T154T	OR5AP2_ENST00000302981.1_Silent_p.T153T			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CTAAGAAGGAGGTAGCTATTA	0.453000													10	33					0	0	1	0	0
VGLL2	245806	broad.mit.edu	37	6	117591791	117591791	+	Silent	SNP	C	C	T			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:117591791C>T	ENST00000326274.5	+	3	667	c.477C>T	c.(475-477)ggC>ggT	p.G159G	VGLL2_ENST00000352536.3_Intron	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	159					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		CGCCGCTGGGCAGCCCTCTGG	0.741000													4	3					0	0	1	0	0
YIPF3	25844	broad.mit.edu	37	6	43480227	43480227	+	Silent	SNP	G	G	A	rs147670761	by1000genomes	TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:43480227G>A	ENST00000372422.2	-	8	1037	c.855C>T	c.(853-855)caC>caT	p.H285H	YIPF3_ENST00000506469.1_Silent_p.H291H	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	285					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GGAAGAGCATGTGTAGGGCAG	0.567000													7	6					0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65829467	65829467	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr11:65829467G>C	ENST00000528302.1	+	15	1978	c.1924G>C	c.(1924-1926)Gag>Cag	p.E642Q	SF3B2_ENST00000322535.6_Missense_Mutation_p.E659Q			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	659					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GCCCATCCCTGAGGTGAGCAT	0.498000													3	7					0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116038488	116038488	+	Silent	SNP	C	C	G			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr10:116038488C>G	ENST00000603594.1	+	8	1032	c.711C>G	c.(709-711)gtC>gtG	p.V237V	VWA2_ENST00000392982.3_Silent_p.V237V	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	237						extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		ACTGCAGGGTCGAGGCTCACC	0.657000													17	15					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68074125	68074125	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr8:68074125A>G	ENST00000262210.5	+	20	2634	c.2603A>G	c.(2602-2604)gAc>gGc	p.D868G	CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.D523G	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	903						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CCTTCAGTTGACAGCATCATA	0.343000													38	94					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000													2	3					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79685993	79685993	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr10:79685993delG	ENST00000372391.2	-	1	291	c.286delC	c.(286-288)agfs	p.Q96fs	DLG5_ENST00000372388.2_Frame_Shift_Del_p.Q96fs	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	96					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCGGCGGGCTGCGGCGGCCCG	0.726													2	4	---	---	---	---					
SIK2	23235	broad.mit.edu	37	11	111594198	111594221	+	Splice_Site	DEL	TCCTTTGATATTACCAATTTAGGC	TCCTTTGATATTACCAATTTAGGC	-			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr11:111594198_111594221delTCCTTTGATATTACCAATTTAGGC	ENST00000304987.3	+	15	2320_2322	c.2147_splice	c.e15-1	p.I716_splice		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	716					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						TAAAATTCTTTCCTTTGATATTACCAATTTAGGCTCCAGCAGAA	0.402													9	31	---	---	---	---					
DHRS4L1	728635	broad.mit.edu	37	14	24511654	24511656	+	RNA	DEL	TTG	TTG	-			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr14:24511654_24511656delTTG	ENST00000558293.1	+	0	437					NR_102693.1				dehydrogenase/reductase (SDR family) member 4 like 1																		GAAGGAAGATttgttgttgttgt	0.365													2	4	---	---	---	---					
TCEANC	170082	broad.mit.edu	37	X	13681313	13681313	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chrX:13681313delC	ENST00000380600.1	+	2	773	c.686delC	c.(685-687)gcfs	p.A229fs	TCEANC_ENST00000490617.1_3'UTR|TCEANC_ENST00000545566.1_Frame_Shift_Del_p.A229fs|TCEANC_ENST00000544987.1_Frame_Shift_Del_p.A229fs|TCEANC_ENST00000314720.4_Frame_Shift_Del_p.A259fs			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	229	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						AGCAAAGTTGCCAATTTGAAG	0.373													2	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76909645	76909646	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chrX:76909645_76909646delTT	ENST00000373344.5	-	14	4473_4474	c.4259_4260delAA	c.(4258-4260)afs	p.K1420fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1382fs|ATRX_ENST00000480283.1_5'UTR	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)	TCTTTTTCTGTTTATAGCTCCG	0.322			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						50	34	---	---	---	---