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
FRG1B	0	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													7	181					0	0	1	0	0
HIST1H4C	8364	broad.mit.edu	37	6	26104424	26104424	+	Silent	SNP	A	A	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr6:26104424A>T	ENST00000377803.2	+	1	321	c.249A>T	c.(247-249)acA>acT	p.T83T		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	83					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						AAACTGTCACAGCCATGGATG	0.483000													17	63					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578272	7578272	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr17:7578272G>A	ENST00000420246.2	-	6	709	c.577C>T	c.(577-579)Cat>Tat	p.H193Y	TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.H193Y|TP53_ENST00000359597.4_Missense_Mutation_p.H193Y|TP53_ENST00000269305.4_Missense_Mutation_p.H193Y|TP53_ENST00000445888.2_Missense_Mutation_p.H193Y|TP53_ENST00000455263.2_Missense_Mutation_p.H193Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; 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.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(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)		CGGATAAGATGCTGAGGAGGG	0.557000		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)			16	22					0	0	1	0	0
FAM173B	134145	broad.mit.edu	37	5	10227588	10227588	+	Missense_Mutation	SNP	T	T	G			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr5:10227588T>G	ENST00000280330.8	-	6	781	c.175A>C	c.(175-177)Aca>Cca	p.T59P	FAM173B_ENST00000511437.1_Missense_Mutation_p.T223P|FAM173B_ENST00000510047.1_Missense_Mutation_p.T206P			Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	223						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						TGCATCGATGTACAGGGCCTC	0.478000													8	53					0	0	1	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834840	27834840	+	Silent	SNP	C	C	A	rs139479440	byFrequency	TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr6:27834840C>A	ENST00000331442.3	-	1	519	c.468G>T	c.(466-468)ccG>ccT	p.P156P		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	156					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TCGCCTTCTTCGGAGTCTTCT	0.602000													31	189					1.08312e-15	1.20574e-15	1	1	0
ASNS	440	broad.mit.edu	37	7	97488687	97488687	+	Missense_Mutation	SNP	C	C	T	rs149193118		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr7:97488687C>T	ENST00000175506.4	-	6	1039	c.511G>A	c.(511-513)Gcg>Acg	p.A171T	ASNS_ENST00000455086.1_Missense_Mutation_p.A88T|ASNS_ENST00000394308.3_Missense_Mutation_p.A171T|ASNS_ENST00000437628.1_Missense_Mutation_p.A88T|ASNS_ENST00000444334.1_Missense_Mutation_p.A150T|ASNS_ENST00000422745.1_Missense_Mutation_p.A150T|ASNS_ENST00000394309.3_Missense_Mutation_p.A171T	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	171	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AAGGGAGTCGCGGAGTGCTTC	0.368000													13	36					0	0	1	0	0
MT-RNR2	0	broad.mit.edu	37	MT	2032	2032	+	RNA	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chrM:2032G>A	ENST00000387347.2	+	0	362					NR_039705.1																						TTGTCCAAGATAGAATCTTAG	0.423000													105	42					0	0	1	0	0
OR9K2	441639	broad.mit.edu	37	12	55524043	55524043	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr12:55524043G>A	ENST00000305377.5	+	1	579	c.491G>A	c.(490-492)cGt>cAt	p.R164H		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						ATGTCCACACGTCTGTGTACT	0.468000													34	108					0	0	1	0	0
LMX1B	4010	broad.mit.edu	37	9	129453154	129453154	+	Silent	SNP	C	C	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr9:129453154C>T	ENST00000355497.5	+	3	373	c.366C>T	c.(364-366)atC>atT	p.I122I	LMX1B_ENST00000373474.4_Silent_p.I122I|LMX1B_ENST00000526117.1_Silent_p.I122I|LMX1B_ENST00000561065.1_Silent_p.I99I|LMX1B_ENST00000425646.2_Silent_p.I99I	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	99	LIM zinc-binding 2.				dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						TGGAGAAGATCGCCCCCACCG	0.647000									Nail-Patella Syndrome				15	24					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			7	9					0.00198382	0.00205343	1	1	0
ATP13A2	23400	broad.mit.edu	37	1	17320326	17320326	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:17320326C>A	ENST00000452699.1	-	16	1721	c.1532G>T	c.(1531-1533)gGc>gTc	p.G511V	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.G511V|ATP13A2_ENST00000326735.8_Missense_Mutation_p.G516V	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	516					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGTGAGGGTGCCCGTCTGTGG	0.692000													3	9					0.004672	0.00475255	1	1	0
ABCA3	21	broad.mit.edu	37	16	2331468	2331468	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr16:2331468C>T	ENST00000301732.5	-	27	4778	c.4078G>A	c.(4078-4080)Gat>Aat	p.D1360N	ABCA3_ENST00000382381.3_Missense_Mutation_p.D1302N	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1360					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TCCGCTACATCTTGGTCCTCA	0.582000													10	98					0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45003662	45003662	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr7:45003662C>T	ENST00000258787.7	-	20	2867	c.2731G>A	c.(2731-2733)Gtg>Atg	p.V911M		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	911						myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	p.V911L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TCAAGGGGCACGGCCCGCATC	0.642000													3	11					0	0	1	0	0
FGF13	2258	broad.mit.edu	37	X	137717785	137717785	+	Missense_Mutation	SNP	T	T	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chrX:137717785T>A	ENST00000315930.6	-	4	1095	c.434A>T	c.(433-435)gAa>gTa	p.E145V	FGF13_ENST00000541469.1_Missense_Mutation_p.E99V|FGF13_ENST00000441825.2_Missense_Mutation_p.E126V|FGF13_ENST00000370603.3_Missense_Mutation_p.E155V|FGF13_ENST00000305414.4_Missense_Mutation_p.E92V	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	145					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					AAACACTGATTCTTTGAATTT	0.373000													14	35					0	0	1	0	0
MT-ND5	4540	broad.mit.edu	37	MT	12441	12441	+	Silent	SNP	T	T	C			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chrM:12441T>C	ENST00000361567.2	+	1	105	c.105T>C	c.(103-105)taT>taC	p.Y35Y				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	35					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	TACCCCCATTATGTAAAATCC	0.423000													21	150					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44976102	44976102	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr14:44976102C>T	ENST00000340446.4	-	1	380	c.89G>A	c.(88-90)cGt>cAt	p.R30H		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	30						cilium		p.R30H(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ATTACCAATACGATGGGTAGC	0.428000													22	115					0	0	1	0	0
DERL1	79139	broad.mit.edu	37	8	124037229	124037229	+	Silent	SNP	G	G	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr8:124037229G>T	ENST00000259512.4	-	3	627	c.327C>A	c.(325-327)atC>atA	p.I109I	DERL1_ENST00000405944.3_Silent_p.I109I|DERL1_ENST00000523036.1_Silent_p.I9I|DERL1_ENST00000419562.2_Intron|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000519018.1_Silent_p.I9I	NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	109					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AGGATACCACGATGCAAATCC	0.383000													5	30					0.000602214	0.000634476	1	1	0
RPTN	126638	broad.mit.edu	37	1	152128023	152128023	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:152128023C>A	ENST00000316073.3	-	3	1616	c.1552G>T	c.(1552-1554)Ggc>Tgc	p.G518C		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	518	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AAACTCTGGCCTTGTCTGTCT	0.498000													379	665					1.76114e-179	2.0374e-179	1	1	0
ZNF585A	199704	broad.mit.edu	37	19	37643369	37643369	+	Silent	SNP	G	G	T	rs143272721	byFrequency	TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr19:37643369G>T	ENST00000356958.4	-	5	1690	c.1432C>A	c.(1432-1434)Cgg>Agg	p.R478R	ZNF585A_ENST00000292841.5_Silent_p.R423R|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Silent_p.R423R			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGATTTGACCGGTTGGTGAAT	0.403000													15	104					9.16793e-09	1.00168e-08	1	1	0
SLC6A3	6531	broad.mit.edu	37	5	1420693	1420693	+	Silent	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr5:1420693G>A	ENST00000270349.9	-	6	1045	c.918C>T	c.(916-918)tgC>tgT	p.C306C	SLC6A3_ENST00000453492.2_Silent_p.C306C	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	306					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CAGACGCCTCGCAGAGCCGGT	0.592000													58	109					0	0	1	0	0
SAV1	60485	broad.mit.edu	37	14	51101951	51101951	+	Nonsense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr14:51101951G>A	ENST00000324679.4	-	5	1465	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*		NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador homolog 1 (Drosophila)	368	SARAH.				hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					CTCTGCTTTCGGTTTTCCAAC	0.343000													23	34					0	0	1	0	0
PJA1	64219	broad.mit.edu	37	X	68382933	68382933	+	Missense_Mutation	SNP	G	G	A	rs147196192		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chrX:68382933G>A	ENST00000361478.1	-	2	526	c.149C>T	c.(148-150)aCg>aTg	p.T50M	PJA1_ENST00000374571.4_De_novo_Start_InFrame|PJA1_ENST00000374583.1_Missense_Mutation_p.T50M|PJA1_ENST00000374584.3_Missense_Mutation_p.T50M|PJA1_ENST00000477231.1_5'UTR	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	50							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TTCGGAGTTCGTCTTTCTCTG	0.537000													41	116					0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91455346	91455346	+	Missense_Mutation	SNP	G	G	A	rs146996561		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr15:91455346G>A	ENST00000360468.3	+	14	2201	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H	MAN2A2_ENST00000559717.1_Missense_Mutation_p.R728H|MAN2A2_ENST00000431652.2_Missense_Mutation_p.R236H	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	728					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GATGGGCACCGCACGCTGCCC	0.667000													56	58					0	0	1	0	0
ASZ1	136991	broad.mit.edu	37	7	117067469	117067469	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr7:117067469C>T	ENST00000284629.2	-	1	108	c.46G>A	c.(46-48)Gag>Aag	p.E16K		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	16					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	p.E16K(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TCGCTACTCTCGCCTCCGCCA	0.667000											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	19	79					0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50474960	50474960	+	RNA	SNP	C	C	G			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr19:50474960C>G	ENST00000602139.1	+	0	1035									sialic acid binding Ig-like lectin 16 (gene/pseudogene)									p.A337G(1)|p.A299G(1)		endometrium(2)|kidney(2)|lung(6)	10						GTTTCCCAAGCAAACAGGACA	0.597000													8	137					0	0	1	0	0
NCBP1	4686	broad.mit.edu	37	9	100403882	100403882	+	Silent	SNP	T	T	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr9:100403882T>A	ENST00000375147.3	+	3	418	c.162T>A	c.(160-162)gcT>gcA	p.A54A		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	54	MIF4G.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				AAGGCTTGGCTGGTGTTTTGG	0.373000													33	69					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29687566	29687566	+	Missense_Mutation	SNP	C	C	G	rs144178015		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr17:29687566C>G	ENST00000358273.4	+	57	8605	c.8222C>G	c.(8221-8223)aCg>aGg	p.T2741R	NF1_ENST00000356175.3_Missense_Mutation_p.T2720R|NF1_ENST00000444181.2_Missense_Mutation_p.T534R|NF1_ENST00000417592.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2741					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTGATTGACACGTACCTGCCT	0.418000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			15	143					0	0	1	0	0
MT-ND6	4541	broad.mit.edu	37	MT	14600	14600	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chrM:14600G>A	ENST00000361681.2	-	1	73	c.74C>T	c.(73-75)cCt>cTt	p.P25L						mitochondrially encoded NADH dehydrogenase 6											breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						CCCCATAAATAGGAGAAGGCT	0.393000													28	81					0	0	1	0	0
MT-CO2	4513	broad.mit.edu	37	MT	7664	7664	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chrM:7664G>A	ENST00000361739.1	+	1	79	c.79G>A	c.(79-81)Gcc>Acc	p.A27T						mitochondrially encoded cytochrome c oxidase II											endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						TTCATGATCACGCCCTCATAA	0.413000													28	120					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109694600	109694600	+	Silent	SNP	C	C	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr9:109694600C>T	ENST00000457913.1	+	5	6355	c.6066C>T	c.(6064-6066)gaC>gaT	p.D2022D	ZNF462_ENST00000277225.5_Intron|ZNF462_ENST00000441147.2_Silent_p.D868D|ZNF462_ENST00000497489.1_3'UTR	NM_021224.4	NP_067047.4	Q96JM2	ZN462_HUMAN	zinc finger protein 462	2011					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CAGCCAAAGACGCCAGTGGCG	0.557000													4	6					0	0	1	0	0
PSMD2	5708	broad.mit.edu	37	3	184019846	184019846	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr3:184019846C>G	ENST00000310118.4	+	5	1249	c.691C>G	c.(691-693)Ctt>Gtt	p.L231V	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.L101V|PSMD2_ENST00000435761.1_Missense_Mutation_p.L72V	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	231					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	AAAGGTCTGCCTTTATCTCAC	0.507000													33	54					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57114545	57114545	+	Missense_Mutation	SNP	A	A	C			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr12:57114545A>C	ENST00000454682.1	-	3	1050	c.769T>G	c.(769-771)Tct>Gct	p.S257A	NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S257A|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	p.S257P(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTTGTGGAGAAATCAGAACT	0.512000			T	BCL6	NHL								63	55					0	0	1	0	0
G3BP2	9908	broad.mit.edu	37	4	76571563	76571563	+	Missense_Mutation	SNP	A	A	G			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr4:76571563A>G	ENST00000359707.4	-	11	1920	c.1135T>C	c.(1135-1137)Ttt>Ctt	p.F379L	G3BP2_ENST00000395719.3_Missense_Mutation_p.F379L|G3BP2_ENST00000357854.3_Missense_Mutation_p.F346L	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	379	RRM.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GAGTCATCAAAAACCACAAAA	0.328000													19	137					0	0	1	0	0
MT-ND1	4535	broad.mit.edu	37	MT	4113	4113	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chrM:4113G>A	ENST00000361390.2	+	1	807	c.807G>A	c.(805-807)ctG>ctA	p.269_269insL						mitochondrially encoded NADH dehydrogenase 1											breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						CTAACCTCCCTGTTCTTATGA	0.443000													30	117					0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23292319	23292319	+	Silent	SNP	C	C	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr10:23292319C>T	ENST00000298032.5	+	13	1791	c.1707C>T	c.(1705-1707)aaC>aaT	p.N569N	ARMC3_ENST00000409049.3_Silent_p.N569N|ARMC3_ENST00000376528.4_Silent_p.N306N|ARMC3_ENST00000409983.3_Silent_p.N569N	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	569							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						ACATAATTAACGATGGATTCT	0.323000													19	95					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21757423	21757423	+	Silent	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr7:21757423G>A	ENST00000328843.6	+	44	7066	c.7035G>A	c.(7033-7035)cgG>cgA	p.R2345R	DNAH11_ENST00000409508.3_Silent_p.R2338R			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2345	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACAGAAGGCGGCATCAATCAG	0.378000									Kartagener syndrome				9	45					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511815	195511815	+	Silent	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr3:195511815G>A	ENST00000463781.3	-	2	7095	c.6636C>T	c.(6634-6636)acC>acT	p.T2212T	MUC4_ENST00000475231.1_Silent_p.T2212T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1001					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.T2212T(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGGGCTGGTGACAGGAA	0.602000													3	11					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511911	195511911	+	Silent	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr3:195511911G>A	ENST00000463781.3	-	2	6999	c.6540C>T	c.(6538-6540)acC>acT	p.T2180T	MUC4_ENST00000475231.1_Silent_p.T2180T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	959					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.T2180T(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGTGTCGGTGACAGGAA	0.587000													3	6					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81197274	81197274	+	RNA	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr16:81197274G>A	ENST00000525539.1	-	0	3407				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGAGGCCACCGACAGTCCCGC	0.532000													5	12					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56492632	56492632	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr12:56492632G>A	ENST00000267101.3	+	23	3222	c.2782G>A	c.(2782-2784)Gag>Aag	p.E928K	ERBB3_ENST00000549832.1_Missense_Mutation_p.E48K|ERBB3_ENST00000450146.2_Missense_Mutation_p.E285K|ERBB3_ENST00000415288.2_Missense_Mutation_p.E869K|ERBB3_ENST00000553131.1_Missense_Mutation_p.E169K	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	928	Protein kinase.				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGAGAAGGGGGAGCGGTTGGC	0.512000													49	138					0	0	1	0	0
MT-RNR2	0	broad.mit.edu	37	MT	2108	2108	+	RNA	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chrM:2108G>A	ENST00000387347.2	+	0	438					NR_039705.1																						TAGTCCAAAGAGGAACAGCTC	0.388000													107	30					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr12:56478854G>A	ENST00000267101.3	+	3	750	c.310G>A	c.(310-312)Gtg>Atg	p.V104M	ERBB3_ENST00000411731.2_Missense_Mutation_p.V104M|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.V45M	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	104			V -> M (in an ovarian mucinous carcinoma sample; somatic mutation).		cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.V104M(7)|p.V104L(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517000													75	161					0	0	1	0	0
OR12D3	81797	broad.mit.edu	37	6	29343055	29343055	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr6:29343055C>T	ENST00000396806.3	-	1	13	c.10G>A	c.(10-12)Gtc>Atc	p.V4I	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						ATTGTAGTGACATTCTCCATT	0.328000													16	34					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738843	176738843	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:176738843C>A	ENST00000367662.3	+	16	5588	c.4424C>A	c.(4423-4425)gCa>gAa	p.A1475E		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1475	Sushi 2.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTGAACTATGCAAACTTCTCC	0.517000													38	73					2.05212e-20	2.32837e-20	1	1	0
KLHDC7A	127707	broad.mit.edu	37	1	18809452	18809452	+	Silent	SNP	C	C	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:18809452C>T	ENST00000400664.1	+	1	2029	c.1977C>T	c.(1975-1977)gcC>gcT	p.A659A		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	659						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGGTGGGCCGGCCCCACCG	0.682000													18	21					0	0	1	0	0
ESX1	80712	broad.mit.edu	37	X	103499131	103499131	+	Silent	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chrX:103499131G>A	ENST00000372588.4	-	2	293	c.210C>T	c.(208-210)gaC>gaT	p.D70D		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	70					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D70D(1)		endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GGTCTTGGTCGTCCGAGGGGA	0.652000													6	244					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216299	111216299	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:111216299G>A	ENST00000369769.2	-	1	1356	c.1133C>T	c.(1132-1134)tCg>tTg	p.S378L		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	378						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAGTGGCGCGACAGCTTGAA	0.592000													68	144					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197184313	197184313	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr2:197184313G>A	ENST00000260983.2	-	9	1483	c.1301C>T	c.(1300-1302)gCg>gTg	p.A434V	HECW2_ENST00000409111.1_Missense_Mutation_p.A78V	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	434					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGAGCAGGTCGCTGTCCCCGG	0.502000													26	65					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2812318	2812318	+	Missense_Mutation	SNP	A	A	G			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr16:2812318A>G	ENST00000301740.8	+	11	2338	c.1789A>G	c.(1789-1791)Aga>Gga	p.R597G		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	597	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ATCACGATCCAGAACTCCCAC	0.617000													23	57					0	0	1	0	0
SUZ12	23512	broad.mit.edu	37	17	30293184	30293184	+	Silent	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr17:30293184G>A	ENST00000322652.5	+	5	703	c.474G>A	c.(472-474)caG>caA	p.Q158Q	SUZ12_ENST00000580398.1_Silent_p.Q135Q	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	158					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CTCATTTGCAGCTTACGTTTA	0.269000			T	JAZF1	endometrial stromal tumours								3	11					0	0	1	0	0
TTC34	100287898	broad.mit.edu	37	1	2576888	2576888	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:2576888delG	ENST00000401094.6	-	5	638	c.211delC	c.(211-213)acfs	p.H71fs	TTC34_ENST00000401095.3_Frame_Shift_Del_p.H268fs			A8MYJ7	TTC34_HUMAN	tetratricopeptide repeat domain 34	268							binding										GCCCGGCAGTGGGAGTAGAGG	0.652													2	4	---	---	---	---					
OR1C1	26188	broad.mit.edu	37	1	247921040	247921042	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:247921040_247921042delGGA	ENST00000408896.2	-	1	940_942	c.667_669delTCC	c.(667-669)del	p.S223del		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCAGAACAGTGGAGAAGATAAGT	0.493													53	52	---	---	---	---					
AC012487.2	0	broad.mit.edu	37	2	109140460	109140460	+	RNA	DEL	C	C	-	rs61036212		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr2:109140460delC	ENST00000440975.1	-	0	250				AC012487.2_ENST00000322353.3_RNA																							gacagcccggccccacaccct	0.433													6	0	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708854	180708854	+	RNA	DEL	A	A	-	rs60396213		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr5:180708854delA	ENST00000412295.2	+	0	238																											GAGCGGTAGGAGGGGGGCTGG	0.692													2	4	---	---	---	---					
RP4-610C12.1	0	broad.mit.edu	37	20	29593423	29593424	+	RNA	DEL	AT	AT	-			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr20:29593423_29593424delAT	ENST00000432067.1	-	0	74																											ACAAATAGAAATAGAGAGATGG	0.351													4	8	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11089518	11089519	+	RNA	INS	-	-	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr21:11089518_11089519insA	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gactctgtctcaaaaaaacaga	0.480													2	4	---	---	---	---					
