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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
ITPR2	3709	broad.mit.edu	37	12	26816711	26816712	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	AT	AT	-	-	AT	AT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:26816711_26816712delAT	ENST00000381340.3	-	15	2035_2036	c.1619_1620delAT	c.(1618-1620)gatfs	p.D540fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	540					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GATCCCCCAGATCTTCAAGTCT	0.46		NA											False	1	False	12:26816711	0
KIAA0556	23247	broad.mit.edu	37	16	27720186	27720226	+	Frame_Shift_Del	DEL	TCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	TCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	-	rs115314923	byFrequency	TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	TCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	TCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	-	-	TCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	TCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:27720186_27720226delTCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	ENST00000261588.4	+	13	1569_1609	c.1550_1590delTCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	c.(1549-1590)atccggaacacagccacgcctggggagctgggccgcctcgtcfs	p.IRNTATPGELGRLV517fs	CTD-2049O4.1_ENST00000563052.1_RNA|CTD-2049O4.1_ENST00000564893.1_RNA|KIAA0556_ENST00000567894.1_3'UTR|CTD-2049O4.1_ENST00000568831.1_RNA	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	517								p.T522M(1)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GATGTGGATATCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTCAACAGGAACT	0.527		NA											False	1	True	16:27720186	0
TP53	7157	broad.mit.edu	37	17	7578180	7578190	+	Frame_Shift_Del	DEL	AGGCGGCTCAT	AGGCGGCTCAT	-	rs121912666		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	AGGCGGCTCAT	AGGCGGCTCAT	-	-	AGGCGGCTCAT	AGGCGGCTCAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:7578180_7578190delAGGCGGCTCAT	ENST00000420246.2	-	6	791_801	c.659_669delATGAGCCGCCT	c.(658-669)tatgagccgcctfs	p.YEPP220fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.YEPP220fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; 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.Y220C(278)|p.Y127C(24)|p.E221*(14)|p.Y220S(12)|p.?(12)|p.0?(8)|p.P222P(5)|p.P222L(5)|p.P223P(4)|p.P223L(4)|p.E128*(3)|p.Y220*(3)|p.P223fs*1(3)|p.E221fs*4(3)|p.P222T(3)|p.E221E(2)|p.E221G(2)|p.E221fs*26(2)|p.P223H(2)|p.E221D(2)|p.P222S(2)|p.E221K(2)|p.P223R(1)|p.P223S(1)|p.P222fs*24(1)|p.P223A(1)|p.P223fs*24(1)|p.Y127S(1)|p.Y220_P223delYEPP(1)|p.P222Q(1)|p.P130fs*1(1)|p.V218_Y220delVPY(1)|p.V216_Y220delVVVPY(1)|p.D208fs*1(1)|p.E221fs*2(1)|p.Y220fs*25(1)|p.V218_E221delVPYE(1)|p.P222A(1)|p.Y220fs*1(1)|p.Y220fs*2(1)|p.V218fs*26(1)|p.E224fs*4(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.P222fs*25(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)		ACCAGACCTCAGGCGGCTCATAGGGCACCAC	0.55		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)			False	1	False	17:7578180	0
NCOA3	8202	broad.mit.edu	37	20	46279833	46279834	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr20:46279833_46279834delGC	ENST00000372004.3	+	20	3963_3964	c.3747_3748delGC	c.(3745-3750)cagcaafs	p.QQ1249fs	NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs|NCOA3_ENST00000371998.3_Frame_Shift_Del_p.QQ1253fs|NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagca	0.55		NA											False	1	True	20:46279833	0
ANKRD36	375248	broad.mit.edu	37	2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	NA										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314		NA											False	1	False	2:97847365	0
ESPNP	0	broad.mit.edu	37	1	17029302	17029364	+	RNA	DEL	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	-			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	-	-	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:17029302_17029364delGGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	ENST00000492551.1	-	0	1001_1063					NR_026567.1					NA											NA						TGGGTAGCTAggtgggggtgggggcagttgggtgcctgggggcgggggtggcggggggaagctgggtgggggtggtgggggta	0.627		NA											False	1	True	1:17029302	0
RARRES1	0	broad.mit.edu	37	3	158428704	158428735	+	Splice_Site	DEL	CACCTTCCTGAAGTAAAGACTGTGGAGTTAAA	CACCTTCCTGAAGTAAAGACTGTGGAGTTAAA	-			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	CACCTTCCTGAAGTAAAGACTGTGGAGTTAAA	CACCTTCCTGAAGTAAAGACTGTGGAGTTAAA	-	-	CACCTTCCTGAAGTAAAGACTGTGGAGTTAAA	CACCTTCCTGAAGTAAAGACTGTGGAGTTAAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:158428704_158428735delCACCTTCCTGAAGTAAAGACTGTGGAGTTAAA	ENST00000237696.5	-	3	620_638	c.340_358delTTTAACTCCACAGTCTTTACTTCAGGAAGGTG	c.(340-360)tttaactccacagtctttact>ct	p.FNSTVFT114fs	RARRES1_ENST00000498640.1_Intron|RARRES1_ENST00000479756.1_Splice_Site_p.FNSTVFT114fs	NM_206963.1	NP_996846.1	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene induced) 1	114					negative regulation of cell proliferation	integral to membrane				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	AAACGTCCCTCACCTTCCTGAAGTAAAGACTGTGGAGTTAAACAGGATACTT	0.453		NA											False	1	True	3:158428704	0
PCSK1	5122	broad.mit.edu	37	5	95765020	95765021	+	Splice_Site	INS	-	-	TAC			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:95765020_95765021insTAC	ENST00000311106.3	-	2	418_419	c.181_182insGTA	c.(181-183)att>aGTAtt	p.60_61insS	PCSK1_ENST00000508626.1_Splice_Site_p.13_14insS|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	60					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGTGAACCAATCTATAAAAGG	0.322		NA											False	0	False	5:95765020	0
PABPC1	26986	broad.mit.edu	37	8	101719035	101719036	+	Splice_Site	DEL	TA	TA	-			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	TA	TA	-	-	TA	TA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr8:101719035_101719036delTA	ENST00000318607.5	-	11	2576		c.e11-2		PABPC1_ENST00000519004.1_Splice_Site|PABPC1_ENST00000522387.1_Splice_Site|PABPC1_ENST00000519596.1_Intron	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	NA					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ATGTGTTAGCTAAAAAATAAGA	0.426		NA											False	1	True	8:101719035	0
ONECUT1	3175	broad.mit.edu	37	15	53081647	53081647	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr15:53081647C>T	ENST00000305901.5	-	1	562	c.435G>A	c.(433-435)gtG>gtA	p.V145V	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	145					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		AGCTACCGCTCACGTTGCCCG	0.642		NA											False	0	False	15:53081647	0
SLMO2	51012	broad.mit.edu	37	20	57613612	57613612	+	Missense_Mutation	SNP	T	T	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr20:57613612T>A	ENST00000355937.4	-	2	288	c.110A>T	c.(109-111)gAt>gTt	p.D37V	SLMO2_ENST00000371033.5_Missense_Mutation_p.D37V	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	37	PRELI/MSF1.									endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			GTCCAACACATCAACTCCAAC	0.478		NA											False	0	False	20:57613612	0
LINS	55180	broad.mit.edu	37	15	101115212	101115212	+	Missense_Mutation	SNP	T	T	C			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr15:101115212T>C	ENST00000314742.8	-	4	833	c.611A>G	c.(610-612)gAt>gGt	p.D204G	LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Missense_Mutation_p.D204G|LINS_ENST00000560133.1_Missense_Mutation_p.D85G	NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	204										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TGAACATGAATCTTTAAAGAT	0.338		NA											False	0	False	15:101115212	0
MYO18B	84700	broad.mit.edu	37	22	26164808	26164808	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr22:26164808G>T	ENST00000335473.7	+	4	1175	c.925G>T	c.(925-927)Gta>Tta	p.V309L	MYO18B_ENST00000536101.1_Missense_Mutation_p.V309L|MYO18B_ENST00000407587.2_Missense_Mutation_p.V309L	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	309						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGGAAGCACGTAAGGCCCCA	0.557		NA											False	0	False	22:26164808	0
LAMA4	3910	broad.mit.edu	37	6	112460431	112460431	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:112460431G>A	ENST00000230538.7	-	24	3570	c.3173C>T	c.(3172-3174)gCc>gTc	p.A1058V	LAMA4_ENST00000389463.4_Missense_Mutation_p.A1051V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A1051V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A1051V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1058	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCTCACCACGGCATAACCGGA	0.488		NA											False	0	False	6:112460431	0
NR1H2	7376	broad.mit.edu	37	19	50881485	50881485	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:50881485C>T	ENST00000253727.5	+	5	496	c.261C>T	c.(259-261)tgC>tgT	p.C87C	NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000598168.1_Silent_p.C87C|NR1H2_ENST00000599105.1_Silent_p.C87C|NR1H2_ENST00000593926.1_Silent_p.C87C|NR1H2_ENST00000411902.2_Intron	NM_007121.5	NP_009052.3	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	87					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		ACGAGCTTTGCCGTGTCTGTG	0.637		NA											False	0	False	19:50881485	0
CSPP1	79848	broad.mit.edu	37	8	68015300	68015300	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr8:68015300C>T	ENST00000262210.5	+	7	1010	c.979C>T	c.(979-981)Cct>Tct	p.P327S	CSPP1_ENST00000412460.1_Missense_Mutation_p.P33S	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	362						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)			AGGGAATATGCCTCCTATGGA	0.348		NA											False	0	False	8:68015300	0
RANGAP1	5905	broad.mit.edu	37	22	41647029	41647029	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr22:41647029C>T	ENST00000455915.2	-	12	2934	c.1465G>A	c.(1465-1467)Gca>Aca	p.A489T	RANGAP1_ENST00000407260.4_Missense_Mutation_p.A434T|RANGAP1_ENST00000356244.3_Missense_Mutation_p.A489T|RANGAP1_ENST00000405486.1_Missense_Mutation_p.A489T			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	489					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCTGCACTGCCATCCTCACA	0.557		NA											False	0	False	22:41647029	0
SPTA1	6708	broad.mit.edu	37	1	158612287	158612287	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:158612287G>A	ENST00000368148.3	-	33	4831	c.4651C>T	c.(4651-4653)Cga>Tga	p.R1551*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.R1551*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1551					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGCTCAGATCGGCCATCGACT	0.438		NA											False	0	False	1:158612287	0
ALMS1	7840	broad.mit.edu	37	2	73646378	73646378	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:73646378G>A	ENST00000264448.6	+	3	689	c.578G>A	c.(577-579)gGc>gAc	p.G193D	ALMS1_ENST00000409009.1_Missense_Mutation_p.G151D|ALMS1_ENST00000377715.1_Missense_Mutation_p.G193D	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	193					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTGGAGGAGGGCATATTGACG	0.418		NA											False	0	True	2:73646378	0
WDR33	55339	broad.mit.edu	37	2	128466262	128466262	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:128466262C>T	ENST00000322313.4	-	21	3928	c.3770G>A	c.(3769-3771)cGa>cAa	p.R1257Q		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1257					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TTTGCCTCCTCGGTCTTCAGA	0.612		NA											False	0	False	2:128466262	0
TAS2R8	50836	broad.mit.edu	37	12	10959184	10959184	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:10959184C>T	ENST00000240615.2	-	1	708	c.396G>A	c.(394-396)tgG>tgA	p.W132*		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	132					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCAGCAGGATCCAGTGCACCA	0.413		NA											False	0	False	12:10959184	0
GBA	2629	broad.mit.edu	37	1	155210420	155210420	+	Splice_Site	SNP	C	C	T	rs104886460		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:155210420C>T	ENST00000327247.5	-	3	348		c.e3+1		GBA_ENST00000368373.3_Splice_Site|GBA_ENST00000427500.2_Splice_Site|GBA_ENST00000493842.1_Splice_Site|GBA_ENST00000536770.1_Splice_Site|GBA_ENST00000428024.2_Intron	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	NA					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	GACTCACTCACCTGATGCCCA	0.527		NA							Gaucher disease type I				False	0	True	1:155210420	0
MYH13	8735	broad.mit.edu	37	17	10209864	10209864	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:10209864G>A	ENST00000418404.3	-	36	5541	c.5378C>T	c.(5377-5379)aCg>aTg	p.T1793M	MYH13_ENST00000570743.1_Missense_Mutation_p.T1793M|MYH13_ENST00000252172.4_Missense_Mutation_p.T1793M			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1793					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTCCTTCACCGTCTGCTCCAG	0.552		NA											False	0	False	17:10209864	0
RMND5B	64777	broad.mit.edu	37	5	177574596	177574596	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:177574596G>A	ENST00000515098.1	+	10	1274	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	RMND5B_ENST00000313386.4_Missense_Mutation_p.R308Q|RMND5B_ENST00000542098.1_Missense_Mutation_p.R295Q			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	308										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATTGAGCAGCGGCAGTGCACT	0.577		NA											False	0	False	5:177574596	0
CFB	629	broad.mit.edu	37	6	31917095	31917095	+	Missense_Mutation	SNP	G	G	A	rs150398964		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:31917095G>A	ENST00000456570.1	+	21	2805	c.2750G>A	c.(2749-2751)cGc>cAc	p.R917H	CFB_ENST00000477310.1_Missense_Mutation_p.R766H|CFB_ENST00000425368.2_Missense_Mutation_p.R415H|CFB_ENST00000556679.1_Missense_Mutation_p.R917H|CFB_ENST00000497841.1_3'UTR			P00751	CFAB_HUMAN	complement factor B	415					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	p.R415H(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGCAAGGATCGCAAAAACCCA	0.522		NA											False	0	False	6:31917095	0
NALCN	259232	broad.mit.edu	37	13	101736104	101736104	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr13:101736104G>A	ENST00000251127.6	-	31	3622	c.3541C>T	c.(3541-3543)Cga>Tga	p.R1181*		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1181						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATCTTCAGTCGGCTCTTCAGG	0.512		NA											False	0	False	13:101736104	0
PACSIN1	0	broad.mit.edu	37	6	34499564	34499564	+	Splice_Site	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:34499564G>A	ENST00000538621.1	+	9	1470	c.1225_splice	c.e9+1	p.G409_splice	PACSIN1_ENST00000374043.2_Splice_Site_p.G367_splice|PACSIN1_ENST00000244458.2_Splice_Site_p.G409_splice	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	409	SH3.				endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CTTTAAGGCCGGTAGGACGGC	0.657		NA											False	0	False	6:34499564	0
SLC25A6	293	broad.mit.edu	37	X	1508553	1508553	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:1508553C>T	ENST00000381401.5	-	2	893	c.179G>A	c.(178-180)cGc>cAc	p.R60H	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	60					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CTTGGGGATGCGGACAATGCA	0.607		NA											False	0	False	X:1508553	0
ZZEF1	23140	broad.mit.edu	37	17	3936124	3936124	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:3936124G>A	ENST00000381638.2	-	41	6881	c.6757C>T	c.(6757-6759)Cag>Tag	p.Q2253*		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2253							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGTGGTACCTGGGGGAAGCCA	0.537		NA											False	0	True	17:3936124	0
ETV3L	440695	broad.mit.edu	37	1	157068581	157068581	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:157068581G>A	ENST00000454449.2	-	3	687	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	135						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GGCGGCGCCCGCACTTCCCAC	0.577		NA											False	0	True	1:157068581	0
SGIP1	84251	broad.mit.edu	37	1	67147697	67147697	+	Silent	SNP	G	G	A	rs146689605	byFrequency	TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:67147697G>A	ENST00000371037.4	+	15	1037	c.960G>A	c.(958-960)ccG>ccA	p.P320P	SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Silent_p.P324P	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	320	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ATACATCCCCGGAACATGTTA	0.522		NA											False	0	True	1:67147697	0
CRYGD	1421	broad.mit.edu	37	2	208988967	208988967	+	Missense_Mutation	SNP	C	C	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:208988967C>G	ENST00000264376.4	-	2	148	c.121G>C	c.(121-123)Ggc>Cgc	p.G41R		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	41	Beta/gamma crystallin 'Greek key' 2.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		ATCCAGCAGCCGCTGTCCACG	0.662		NA											False	0	False	2:208988967	0
IGHG4	0	broad.mit.edu	37	14	106091309	106091309	+	RNA	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:106091309G>A	ENST00000390543.2	-	0	584										NA											NA						ACTCCTTGCCGTTCAGCCAGT	0.592		NA											False	0	False	14:106091309	0
FARP1	10160	broad.mit.edu	37	13	98896791	98896791	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr13:98896791C>T	ENST00000376581.5	+	3	254	c.218C>T	c.(217-219)aCg>aTg	p.T73M	FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron	NM_001001715.2	NP_001001715.2	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	0	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	p.T73M(1)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCCTCCTGGACGGGTTGGGTA	0.488		NA											False	0	True	13:98896791	0
ZNRF3	84133	broad.mit.edu	37	22	29445400	29445400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr22:29445400C>T	ENST00000544604.2	+	8	1406	c.1231C>T	c.(1231-1233)Cag>Tag	p.Q411*	ZNRF3_ENST00000402174.1_Nonsense_Mutation_p.Q311*|ZNRF3_ENST00000406323.3_Nonsense_Mutation_p.Q311*|ZNRF3_ENST00000332811.4_Nonsense_Mutation_p.Q311*	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	411						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CTATTCCCCGCAGACCCCCGC	0.682		NA											False	0	False	22:29445400	0
TMEM45B	120224	broad.mit.edu	37	11	129722430	129722430	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:129722430G>A	ENST00000281441.3	+	2	141	c.53G>A	c.(52-54)gGg>gAg	p.G18E	TMEM45B_ENST00000524567.1_Missense_Mutation_p.G18E	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN	transmembrane protein 45B	18						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		CTGATCATTGGGCTGTGTTGG	0.507		NA											False	0	True	11:129722430	0
SFRP4	6424	broad.mit.edu	37	7	37956044	37956044	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:37956044G>A	ENST00000436072.2	-	1	473	c.96C>T	c.(94-96)tgC>tgT	p.C32C	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	32	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GCATGTGCCGGCACATAGGGA	0.672		NA											False	0	False	7:37956044	0
P2RY1	5028	broad.mit.edu	37	3	152554482	152554482	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:152554482C>T	ENST00000305097.3	+	1	1747	c.911C>T	c.(910-912)gCc>gTc	p.A304V		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	304					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGGGTTTATGCCACGTATCAG	0.478		NA											False	0	False	3:152554482	0
KCNJ12	3768	broad.mit.edu	37	17	21319451	21319451	+	Missense_Mutation	SNP	C	C	T	rs144590967	byFrequency	TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:21319451C>T	ENST00000583088.1	+	3	1692	c.797C>T	c.(796-798)tCg>tTg	p.S266L	KCNJ12_ENST00000331718.5_Missense_Mutation_p.S266L	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12	NA										NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TTTCTGGTGTCGCCCATCACC	0.607		NA								Prostate(3;0.18)			False	0	False	17:21319451	0
SLC22A17	51310	broad.mit.edu	37	14	23816760	23816760	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:23816760G>A	ENST00000354772.3	-	8	1628	c.1125C>T	c.(1123-1125)acC>acT	p.T375T	SLC22A17_ENST00000206544.8_Silent_p.T375T|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Silent_p.T375T|SLC22A17_ENST00000397260.3_Silent_p.T264T	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	375					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AAGCAATGCCGGTAAGGGTCA	0.622		NA											False	0	False	14:23816760	0
HYDIN	54768	broad.mit.edu	37	16	71101253	71101253	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:71101253G>T	ENST00000393567.2	-	15	2165	c.2015C>A	c.(2014-2016)gCa>gAa	p.A672E	HYDIN_ENST00000448089.2_Missense_Mutation_p.A672E|HYDIN_ENST00000393550.2_Missense_Mutation_p.A687E|HYDIN_ENST00000321489.5_Missense_Mutation_p.A672E|HYDIN_ENST00000288168.10_Missense_Mutation_p.A689E|HYDIN_ENST00000541601.1_Missense_Mutation_p.A689E|HYDIN_ENST00000448691.1_Missense_Mutation_p.A672E|HYDIN_ENST00000538248.1_Missense_Mutation_p.A699E	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	672								p.A672E(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CACCACGAGTGCCAGCTCGTA	0.532		NA											False	0	False	16:71101253	0
THADA	63892	broad.mit.edu	37	2	43768407	43768407	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:43768407C>T	ENST00000405006.4	-	21	3506	c.3155G>A	c.(3154-3156)tGt>tAt	p.C1052Y	THADA_ENST00000330266.7_Missense_Mutation_p.C762Y|THADA_ENST00000415080.2_Missense_Mutation_p.C762Y|THADA_ENST00000405975.2_Missense_Mutation_p.C1052Y	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1052							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCTCCAACAACATACCAGCAC	0.413		NA											False	0	False	2:43768407	0
CPAMD8	27151	broad.mit.edu	37	19	17057923	17057923	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:17057923C>T	ENST00000443236.1	-	21	2795	c.2764G>A	c.(2764-2766)Gtt>Att	p.V922I		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	875						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AAGGACAGAACGACCCAGATG	0.597		NA											False	0	False	19:17057923	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0
SST	6750	broad.mit.edu	37	3	187387014	187387014	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:187387014C>T	ENST00000287641.3	-	2	297	c.190G>A	c.(190-192)Gag>Aag	p.E64K		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	64					digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	GCATCATTCTCCGTCTGGTTG	0.522		NA											False	0	False	3:187387014	0
ROBO1	6091	broad.mit.edu	37	3	78666997	78666997	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:78666997G>T	ENST00000436010.2	-	25	4950	c.3953C>A	c.(3952-3954)tCc>tAc	p.S1318Y	ROBO1_ENST00000464233.1_Missense_Mutation_p.S1357Y|ROBO1_ENST00000495273.1_Missense_Mutation_p.S1312Y|ROBO1_ENST00000467549.1_Missense_Mutation_p.S1257Y			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1357					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CCCAACACTGGAGGCAGGTGT	0.572		NA											False	0	False	3:78666997	0
CYP2A7	1549	broad.mit.edu	37	19	41383142	41383142	+	Missense_Mutation	SNP	G	G	A	rs151290022		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:41383142G>A	ENST00000301146.4	-	7	1655	c.1114C>T	c.(1114-1116)Cgc>Tgc	p.R372C	CYP2A7_ENST00000291764.3_Missense_Mutation_p.R321C|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	372						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TTAACCCTGCGGGCCAAACTC	0.547		NA											False	0	True	19:41383142	0
SP140	11262	broad.mit.edu	37	2	231174695	231174695	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:231174695C>T	ENST00000392045.3	+	23	2229	c.2115C>T	c.(2113-2115)tgC>tgT	p.C705C	SP140_ENST00000486687.2_Silent_p.C629C|SP140_ENST00000417495.3_Silent_p.C591C|SP140_ENST00000343805.6_Silent_p.C645C|SP140_ENST00000420434.3_Silent_p.C678C|SP140_ENST00000350136.5_Silent_p.C574C	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	705					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C705C(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGTTCTGTTGCGACACTTGTT	0.512		NA											False	0	False	2:231174695	0
GRIN2B	2904	broad.mit.edu	37	12	13716777	13716777	+	Missense_Mutation	SNP	A	A	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:13716777A>T	ENST00000279593.3	-	13	3604	c.3395T>A	c.(3394-3396)tTc>tAc	p.F1132Y		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1132					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCCAGGTAGAAGTCCCGTAG	0.597		NA											False	0	False	12:13716777	0
BTN2A2	10385	broad.mit.edu	37	6	26390289	26390289	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:26390289G>A	ENST00000356709.4	+	5	892	c.781G>A	c.(781-783)Gca>Aca	p.A261T	BTN2A2_ENST00000432533.2_Missense_Mutation_p.A167T|BTN2A2_ENST00000482536.1_Missense_Mutation_p.A51T|BTN2A2_ENST00000416795.2_Missense_Mutation_p.A261T|BTN2A2_ENST00000352867.2_Missense_Mutation_p.A145T|BTN2A2_ENST00000469230.1_Missense_Mutation_p.A261T	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	261					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CATCCTGACCGCATCTCCCTG	0.463		NA											False	0	False	6:26390289	0
TNXB	7148	broad.mit.edu	37	6	32017099	32017099	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:32017099G>A	ENST00000375244.3	-	28	9906	c.9705C>T	c.(9703-9705)taC>taT	p.Y3235Y	TNXB_ENST00000375247.2_Silent_p.Y3233Y			P22105	TENX_HUMAN	tenascin XB	3280	Fibronectin type-III 24.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGTGGAGGCCGTACAGATGCA	0.697		NA											False	0	False	6:32017099	0
PKLR	5313	broad.mit.edu	37	1	155262971	155262971	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:155262971C>T	ENST00000392414.3	-	9	1453	c.1340G>A	c.(1339-1341)gGc>gAc	p.G447D	PKLR_ENST00000342741.4_Missense_Mutation_p.G478D	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	478					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CCCTCACCGGCCAGTTGTGGT	0.607		NA											False	0	False	1:155262971	0
ARID1A	8289	broad.mit.edu	37	1	27101098	27101098	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:27101098C>T	ENST00000324856.7	+	18	4751	c.4380C>T	c.(4378-4380)ggC>ggT	p.G1460G	ARID1A_ENST00000374152.2_Silent_p.G1077G|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1460					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCCAGTTTGGCCGAGACCGTG	0.582		NA	"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								False	0	False	1:27101098	0
FUT9	10690	broad.mit.edu	37	6	96651947	96651947	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:96651947G>A	ENST00000302103.5	+	3	1242	c.916G>A	c.(916-918)Gac>Aac	p.D306N		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	306					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GAAGGAAGTCGACAAAAACAA	0.368		NA											False	0	False	6:96651947	0
ROBO1	6091	broad.mit.edu	37	3	78666996	78666996	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:78666996G>A	ENST00000436010.2	-	25	4951	c.3954C>T	c.(3952-3954)tcC>tcT	p.S1318S	ROBO1_ENST00000464233.1_Silent_p.S1357S|ROBO1_ENST00000495273.1_Silent_p.S1312S|ROBO1_ENST00000467549.1_Silent_p.S1257S			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1357					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CCCCAACACTGGAGGCAGGTG	0.572		NA											False	0	False	3:78666996	0
TRPC4	7223	broad.mit.edu	37	13	38211315	38211315	+	Missense_Mutation	SNP	C	C	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr13:38211315C>G	ENST00000379705.3	-	11	3516	c.2659G>C	c.(2659-2661)Gaa>Caa	p.E887Q	TRPC4_ENST00000447043.1_Missense_Mutation_p.E746Q|TRPC4_ENST00000358477.2_Missense_Mutation_p.E803Q|TRPC4_ENST00000379681.3_Missense_Mutation_p.E892Q|TRPC4_ENST00000379673.2_Missense_Mutation_p.E738Q|TRPC4_ENST00000355779.2_Missense_Mutation_p.E746Q|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379679.1_Missense_Mutation_p.E714Q|TRPC4_ENST00000338947.5_Missense_Mutation_p.E714Q			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	887	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CCTCGAGATTCCAGTTGAATA	0.458		NA											False	0	False	13:38211315	0
RBM12	10137	broad.mit.edu	37	20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397443.1_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	693	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)			CCTGCACTGGGCATTCCCGCA	0.557		NA											False	0	True	20:34241168	0
OLIG3	167826	broad.mit.edu	37	6	137815036	137815036	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:137815036C>T	ENST00000367734.2	-	1	495	c.272G>A	c.(271-273)cGc>cAc	p.R91H		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		CTTGCGTTCGCGTCCGTTGAT	0.617		NA											False	0	False	6:137815036	0
ARHGEF11	9826	broad.mit.edu	37	1	156926239	156926239	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:156926239C>T	ENST00000368194.3	-	19	2683	c.1644G>A	c.(1642-1644)tgG>tgA	p.W548*	ARHGEF11_ENST00000361409.2_Nonsense_Mutation_p.W508*	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	508					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGAACGGTAGCCACTTGTCCT	0.552		NA											False	0	False	1:156926239	0
KBTBD8	84541	broad.mit.edu	37	3	67054666	67054666	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:67054666C>T	ENST00000295568.4	+	3	1328	c.1197C>T	c.(1195-1197)tgC>tgT	p.C399C	KBTBD8_ENST00000417314.2_Silent_p.C425C|KBTBD8_ENST00000460576.1_Intron	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	425										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CGACTGTTTGCGCGATGCCAG	0.413		NA											False	0	False	3:67054666	0
FAT3	120114	broad.mit.edu	37	11	92577374	92577374	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:92577374G>A	ENST00000298047.6	+	18	10858	c.10841G>A	c.(10840-10842)gGc>gAc	p.G3614D	FAT3_ENST00000525166.1_Missense_Mutation_p.G3464D|FAT3_ENST00000409404.2_Missense_Mutation_p.G3614D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3614	Cadherin 33.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGGACAGCGGCAAGTATGTC	0.498		NA								TCGA Ovarian(4;0.039)			False	0	False	11:92577374	0
MUC5B	727897	broad.mit.edu	37	11	1264911	1264911	+	Silent	SNP	T	T	C			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:1264911T>C	ENST00000447027.1	+	31	6868	c.6810T>C	c.(6808-6810)tcT>tcC	p.S2270S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.S2267S			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2267	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.S2267S(1)|p.S2270S(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCCCTTCTCCAGGGACGA	0.677		NA											False	0	False	11:1264911	0
MYLK	4638	broad.mit.edu	37	3	123419230	123419230	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:123419230C>T	ENST00000360772.3	-	19	3463	c.3085G>A	c.(3085-3087)Gcc>Acc	p.A1029T	MYLK_ENST00000346322.5_Missense_Mutation_p.A960T|MYLK_ENST00000475616.1_Missense_Mutation_p.A1029T|MYLK_ENST00000360304.3_Missense_Mutation_p.A1029T|MYLK_ENST00000359169.1_Missense_Mutation_p.A1029T			Q15746	MYLK_HUMAN	myosin light chain kinase	1029	6 X 12 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCAGGCTTGGCGTTGCCCACG	0.607		NA											False	0	False	3:123419230	0
BCL11A	53335	broad.mit.edu	37	2	60688454	60688454	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:60688454G>A	ENST00000335712.6	-	4	1820	c.1593C>T	c.(1591-1593)ggC>ggT	p.G531G	BCL11A_ENST00000358510.4_Silent_p.G497G|BCL11A_ENST00000356842.4_Silent_p.G531G|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Silent_p.G497G|BCL11A_ENST00000537768.1_Silent_p.G200G|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	531					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCACGACCGCGCCCCGCGAGC	0.697		NA	T	IGH@	B-CLL								False	0	True	2:60688454	0
SEPHS2	22928	broad.mit.edu	37	16	30456111	30456111	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:30456111G>A	ENST00000478753.2	-	1	1391	c.938C>T	c.(937-939)gCg>gTg	p.A313V	SEPHS2_ENST00000542752.1_Missense_Mutation_p.A256V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.A313V			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	313					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						ATCTGTGGCCGCATGGGCATT	0.448		NA											False	0	False	16:30456111	0
ASH1L	55870	broad.mit.edu	37	1	155408246	155408246	+	Silent	SNP	A	A	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:155408246A>G	ENST00000368346.3	-	5	6339	c.5700T>C	c.(5698-5700)gtT>gtC	p.V1900V	ASH1L_ENST00000392403.3_Silent_p.V1900V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1900					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CACTCTGAACAACAGCCTCAA	0.453		NA											False	0	False	1:155408246	0
PCDHGA10	0	broad.mit.edu	37	5	140795043	140795043	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:140795043G>A	ENST00000398610.2	+	1	2301	c.2301G>A	c.(2299-2301)tcG>tcA	p.S767S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1				NA										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGGACTCGCGAAAGAGTC	0.562		NA											False	0	False	5:140795043	0
HOXA9	3205	broad.mit.edu	37	7	27203297	27203297	+	Missense_Mutation	SNP	C	C	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:27203297C>G	ENST00000343483.6	-	2	816	c.744G>C	c.(742-744)agG>agC	p.R248S	RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.R88S|HOXA9_ENST00000396345.1_3'UTR|HOXA9_ENST00000497089.1_5'UTR|RP1-170O19.20_ENST00000465941.1_5'UTR	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	248							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						TCTTGACCTGCCTCTCGGTGA	0.483		NA	T	"""NUP98, MSI2"""	AML*								False	0	False	7:27203297	0
IRS4	8471	broad.mit.edu	37	X	107976904	107976904	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:107976904G>A	ENST00000372129.2	-	1	2747	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	891						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AAAGAAAGTCGGTTAGGTCTC	0.443		NA											False	0	False	X:107976904	0
NIP7	51388	broad.mit.edu	37	16	69373736	69373736	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:69373736C>T	ENST00000254940.5	+	1	404	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W	RP11-343C2.9_ENST00000563634.1_Intron|NIP7_ENST00000254941.6_Missense_Mutation_p.R2W|RP11-343C2.7_ENST00000564737.1_Intron|NIP7_ENST00000569637.2_Missense_Mutation_p.R2W	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN	NIP7, nucleolar pre-rRNA processing protein	2					ribosome assembly	nucleolus	protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Ovarian(137;0.101)				GGGAAAAATGCGGCCTTTGAC	0.592		NA									OREG0023907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	16:69373736	0
SYT9	143425	broad.mit.edu	37	11	7437383	7437383	+	Silent	SNP	A	A	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:7437383A>G	ENST00000318881.6	+	4	1392	c.1155A>G	c.(1153-1155)acA>acG	p.T385T		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	385	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TGGACATAACAGGAGCATCAG	0.408		NA											False	0	False	11:7437383	0
ALB	213	broad.mit.edu	37	4	74275113	74275113	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr4:74275113C>T	ENST00000295897.4	+	5	613	c.524C>T	c.(523-525)gCc>gTc	p.A175V	ALB_ENST00000509063.1_Missense_Mutation_p.A175V|ALB_ENST00000401494.3_Missense_Mutation_p.A60V|ALB_ENST00000415165.2_Intron|ALB_ENST00000503124.1_Missense_Mutation_p.A25V|ALB_ENST00000505649.1_3'UTR	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	175	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TACTTTTATGCCCCGGAACTC	0.353		NA											False	0	True	4:74275113	0
CHD7	55636	broad.mit.edu	37	8	61769311	61769311	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr8:61769311G>A	ENST00000423902.2	+	34	7951	c.7472G>A	c.(7471-7473)cGc>cAc	p.R2491H	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000529472.1_3'UTR	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2491					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGCCTTTCGCGCACACCCACA	0.488		NA											False	0	False	8:61769311	0
ADCY5	111	broad.mit.edu	37	3	123046467	123046467	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:123046467G>A	ENST00000462833.1	-	7	3157	c.1945C>T	c.(1945-1947)Cgg>Tgg	p.R649W	ADCY5_ENST00000491190.1_Missense_Mutation_p.R282W|ADCY5_ENST00000309879.5_Missense_Mutation_p.R299W	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	649					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCACAGACCCGCTTCTGGGTG	0.627		NA											False	0	True	3:123046467	0
NYNRIN	57523	broad.mit.edu	37	14	24886290	24886290	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:24886290G>A	ENST00000382554.3	+	9	5653	c.5335G>A	c.(5335-5337)Gca>Aca	p.A1779T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1779					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GATGAGCAGCGCAAACATTGA	0.617		NA											False	0	False	14:24886290	0
CPAMD8	27151	broad.mit.edu	37	19	17010311	17010311	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:17010311C>T	ENST00000443236.1	-	37	4995	c.4964G>A	c.(4963-4965)cGc>cAc	p.R1655H		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1608						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GAGCACTCGGCGTCCAGCCAC	0.577		NA											False	0	False	19:17010311	0
PTCH1	5727	broad.mit.edu	37	9	98244279	98244279	+	Missense_Mutation	SNP	T	T	C			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr9:98244279T>C	ENST00000430669.2	-	5	1085	c.500A>G	c.(499-501)gAc>gGc	p.D167G	PTCH1_ENST00000331920.6_Missense_Mutation_p.D233G|PTCH1_ENST00000421141.1_Missense_Mutation_p.D82G|PTCH1_ENST00000437951.1_Missense_Mutation_p.D167G|PTCH1_ENST00000429896.2_Missense_Mutation_p.D82G|PTCH1_ENST00000375274.2_Missense_Mutation_p.D232G|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000418258.1_Missense_Mutation_p.D82G|PTCH1_ENST00000468211.2_Missense_Mutation_p.D167G			Q13635	PTC1_HUMAN	patched 1	233					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCAGAAGCAGTCCAAAGGTGT	0.433		NA											False	0	False	9:98244279	0
UNC79	57578	broad.mit.edu	37	14	93954015	93954015	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:93954015C>T	ENST00000553484.1	+	5	780	c.626C>T	c.(625-627)tCc>tTc	p.S209F	UNC79_ENST00000555664.1_Missense_Mutation_p.S209F|UNC79_ENST00000256339.4_Missense_Mutation_p.S32F|UNC79_ENST00000393151.2_Missense_Mutation_p.S209F			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	209						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCAGTGGGCTCCTCAAGGAGA	0.403		NA											False	0	False	14:93954015	0
SLC22A10	387775	broad.mit.edu	37	11	63057849	63057849	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:63057849C>T	ENST00000332793.6	+	1	214	c.212C>T	c.(211-213)gCc>gTc	p.A71V	SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000526800.1_Missense_Mutation_p.A19V|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	71						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGTGAAGATGCCCTCTTGAGA	0.493		NA											False	0	True	11:63057849	0
SAMD14	201191	broad.mit.edu	37	17	48191617	48191617	+	Silent	SNP	G	G	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:48191617G>T	ENST00000330175.4	-	8	1193	c.876C>A	c.(874-876)ccC>ccA	p.P292P	SAMD14_ENST00000503131.1_Silent_p.P320P	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	292										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						AGGGCCCACTGGGGATCTTGG	0.597		NA											False	0	True	17:48191617	0
GPR137	56834	broad.mit.edu	37	11	64054047	64054047	+	Silent	SNP	G	G	C			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:64054047G>C	ENST00000539851.1	+	2	518	c.51G>C	c.(49-51)gcG>gcC	p.A17A	GPR137_ENST00000313074.3_Silent_p.A17A|GPR137_ENST00000411458.1_Silent_p.A75A|GPR137_ENST00000438980.2_Silent_p.A17A|GPR137_ENST00000377702.4_Silent_p.A17A	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	17						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TGGTGCCTGCGCTGCCACCTG	0.632		NA											False	0	False	11:64054047	0
GPR123	84435	broad.mit.edu	37	10	134884542	134884542	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr10:134884542G>A	ENST00000607359.1	+	1	110	c.110G>A	c.(109-111)cGg>cAg	p.R37Q				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CGAGGGGGCCGGACACCACAG	0.657		NA											False	0	False	10:134884542	0
HTR2C	3358	broad.mit.edu	37	X	114141599	114141599	+	Missense_Mutation	SNP	T	T	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:114141599T>A	ENST00000276198.1	+	6	1726	c.998T>A	c.(997-999)cTg>cAg	p.L333Q	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Missense_Mutation_p.L333Q	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	333					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	ACCAATATTCTGTCTGTTCTT	0.383		NA											False	0	True	X:114141599	0
PDE1C	5137	broad.mit.edu	37	7	32109952	32109952	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:32109952G>T	ENST00000396184.3	-	2	258	c.54C>A	c.(52-54)taC>taA	p.Y18*	PDE1C_ENST00000396193.1_Intron|PDE1C_ENST00000396182.2_Nonsense_Mutation_p.Y18*|PDE1C_ENST00000396191.1_Nonsense_Mutation_p.Y18*|PDE1C_ENST00000321453.7_Nonsense_Mutation_p.Y18*	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	18					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CCGGTTGCAGGTATTTCAGAG	0.502		NA											False	0	False	7:32109952	0
ALDH1L2	160428	broad.mit.edu	37	12	105464556	105464556	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:105464556G>A	ENST00000258494.9	-	3	360	c.220C>T	c.(220-222)Cct>Tct	p.P74S	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.P74S	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	74	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TTGAACACAGGGGTCCCATCT	0.413		NA											False	0	True	12:105464556	0
AGBL4	84871	broad.mit.edu	37	1	49511348	49511348	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:49511348G>A	ENST00000371839.1	-	5	618	c.502C>T	c.(502-504)Cca>Tca	p.P168S	AGBL4_ENST00000371838.1_Missense_Mutation_p.P168S|AGBL4_ENST00000371836.1_Missense_Mutation_p.P168S	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	168					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		TATGTATATGGGTAGCAGTAA	0.458		NA											False	0	True	1:49511348	0
OR10X1	128367	broad.mit.edu	37	1	158548759	158548759	+	Nonsense_Mutation	SNP	T	T	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:158548759T>A	ENST00000368150.1	-	1	930	c.931A>T	c.(931-933)Aaa>Taa	p.K311*		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AAAGCATTTTTCATGTCCTTA	0.438		NA											False	0	True	1:158548759	0
OR11H12	440153	broad.mit.edu	37	14	19377838	19377838	+	Missense_Mutation	SNP	C	C	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:19377838C>A	ENST00000550708.1	+	1	317	c.245C>A	c.(244-246)tCc>tAc	p.S82Y		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S82F(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGAAATTTCTCCTTTTTAGAG	0.423		NA											False	0	False	14:19377838	0
CFL2	1073	broad.mit.edu	37	14	35182567	35182567	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:35182567G>A	ENST00000341223.3	-	2	355	c.204C>T	c.(202-204)taC>taT	p.Y68Y	CFL2_ENST00000556161.1_Silent_p.Y51Y|CFL2_ENST00000555765.1_Silent_p.Y51Y|CFL2_ENST00000298159.6_Silent_p.Y68Y	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	Q9Y281	COF2_HUMAN	cofilin 2 (muscle)	68	ADF-H.					cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(3)|endometrium(2)|lung(3)	8	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		CAAAAGATGTGTAGGGGTCCT	0.398		NA											False	0	False	14:35182567	0
GRIK3	2899	broad.mit.edu	37	1	37346245	37346245	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:37346245G>A	ENST00000373091.3	-	3	556	c.540C>T	c.(538-540)gaC>gaT	p.D180D	GRIK3_ENST00000373093.4_Silent_p.D180D	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	180					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	p.D180D(2)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CTGTACTGTCGTCATAGACCA	0.612		NA											False	0	False	1:37346245	0
HCLS1	3059	broad.mit.edu	37	3	121354642	121354642	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:121354642C>T	ENST00000314583.3	-	9	722	c.631G>A	c.(631-633)Ggc>Agc	p.G211S	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.G174S	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	211					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TCATTGAAGCCGACAGCGCTC	0.557		NA											False	0	False	3:121354642	0
L3MBTL4	91133	broad.mit.edu	37	18	5969486	5969486	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr18:5969486C>T	ENST00000284898.6	-	18	1747	c.1547G>A	c.(1546-1548)cGg>cAg	p.R516Q	L3MBTL4_ENST00000317931.7_Missense_Mutation_p.R507Q|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.R320Q|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.R516Q	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	516					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GGGAAGGTCCCGAAAAGGGTG	0.607		NA											False	0	True	18:5969486	0
CD86	942	broad.mit.edu	37	3	121822548	121822548	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:121822548G>A	ENST00000330540.2	+	3	370	c.254G>A	c.(253-255)cGc>cAc	p.R85H	CD86_ENST00000469710.1_Missense_Mutation_p.R3H|CD86_ENST00000493101.1_Intron|CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.R79H	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	85	Ig-like V-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TATATGGGCCGCACAAGTTTT	0.423		NA											False	0	False	3:121822548	0
IGHG3	0	broad.mit.edu	37	14	106237582	106237582	+	RNA	SNP	C	C	T	rs2983776		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:106237582C>T	ENST00000390551.2	-	0	160										NA											NA						GTAGGACAGCCGGGAAGGTGT	0.637		NA											False	0	True	14:106237582	0
SRPRB	58477	broad.mit.edu	37	3	133535748	133535748	+	Missense_Mutation	SNP	T	T	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:133535748T>G	ENST00000466490.2	+	7	859	c.574T>G	c.(574-576)Tta>Gta	p.L192V		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	192						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						ATCAGCAAAGTTAATTCAACA	0.348		NA											False	0	False	3:133535748	0
GBA	2629	broad.mit.edu	37	1	155210490	155210490	+	Missense_Mutation	SNP	T	T	C	rs1141804		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:155210490T>C	ENST00000327247.5	-	3	278	c.46A>G	c.(46-48)Agt>Ggt	p.S16G	GBA_ENST00000368373.3_Missense_Mutation_p.S16G|GBA_ENST00000427500.2_Missense_Mutation_p.S16G|GBA_ENST00000493842.1_5'UTR|GBA_ENST00000536770.1_Missense_Mutation_p.S16G|GBA_ENST00000428024.2_Intron	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	16					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	CTTACCCTACTCAAAGGCTTG	0.547		NA							Gaucher disease type I				False	0	False	1:155210490	0
ZCCHC9	84240	broad.mit.edu	37	5	80608439	80608439	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:80608439G>A	ENST00000254037.2	+	5	3929	c.774G>A	c.(772-774)ccG>ccA	p.P258P	ZCCHC9_ENST00000407610.3_Silent_p.P258P|ZCCHC9_ENST00000380199.5_Silent_p.P258P|ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000438268.2_Silent_p.P258P			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	258							nucleic acid binding|zinc ion binding	p.P258P(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		TACCTAAACCGCAAAAACCCA	0.388		NA											False	0	False	5:80608439	0
ZFP36L1	677	broad.mit.edu	37	14	69256429	69256429	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:69256429G>A	ENST00000439696.2	-	2	1139	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.R280W	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	280					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GACATGGGCCGGAAGAGGAAG	0.632		NA									OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	14:69256429	0
TCF20	6942	broad.mit.edu	37	22	42609709	42609709	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr22:42609709G>A	ENST00000359486.3	-	1	1739	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	TCF20_ENST00000335626.4_Missense_Mutation_p.R535W	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTTAGTTGCCGCACTCTCTCG	0.557		NA											False	0	False	22:42609709	0
ETV3L	440695	broad.mit.edu	37	1	157068573	157068573	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:157068573C>T	ENST00000454449.2	-	3	695	c.411G>A	c.(409-411)ccG>ccA	p.P137P		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	137						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GGGGGGATGGCGGCGCCCGCA	0.592		NA											False	0	False	1:157068573	0
GPAM	57678	broad.mit.edu	37	10	113932067	113932067	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr10:113932067G>A	ENST00000348367.4	-	9	864	c.667C>T	c.(667-669)Ccg>Tcg	p.P223S	GPAM_ENST00000369425.1_Missense_Mutation_p.P223S|GPAM_ENST00000423155.1_Missense_Mutation_p.P223S			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	223					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		AACAGAAGCGGCAAATTCGTC	0.383		NA											False	0	False	10:113932067	0
CD97	976	broad.mit.edu	37	19	14499539	14499539	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:14499539C>T	ENST00000242786.5	+	3	179	c.99C>T	c.(97-99)aaC>aaT	p.N33N	CD97_ENST00000358600.3_Silent_p.N33N|CD97_ENST00000587728.1_3'UTR|CD97_ENST00000357355.3_Silent_p.N33N	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	33	EGF-like 1.				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCCCTCAGAACTCCTCGTGTG	0.587		NA											False	0	False	19:14499539	0
SNCAIP	9627	broad.mit.edu	37	5	121776408	121776408	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:121776408G>A	ENST00000261367.7	+	9	2950	c.1522G>A	c.(1522-1524)Gtt>Att	p.V508I	CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.V63I|SNCAIP_ENST00000379533.2_Missense_Mutation_p.V508I|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379538.3_Missense_Mutation_p.V95I|SNCAIP_ENST00000379536.2_Missense_Mutation_p.V401I|SNCAIP_ENST00000503116.2_Missense_Mutation_p.V508I|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.V461I|SNCAIP_ENST00000542191.1_Missense_Mutation_p.V19I|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	461					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAACAGTGCCGTTCACGTAGC	0.428		NA											False	0	False	5:121776408	0
OR5L1	219437	broad.mit.edu	37	11	55579771	55579771	+	Missense_Mutation	SNP	T	T	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:55579771T>A	ENST00000333973.2	+	1	918	c.829T>A	c.(829-831)Ttc>Atc	p.F277I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GGCCACCGTGTTCTACACAGT	0.458		NA											False	0	False	11:55579771	0
CPED1	79974	broad.mit.edu	37	7	120768504	120768504	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:120768504C>T	ENST00000310396.5	+	11	1838	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	CPED1_ENST00000423795.1_Silent_p.F237F|CPED1_ENST00000450913.2_Silent_p.F457F	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1	NA											NA						TTATGACTTTCATAAAGGAAC	0.368		NA											False	0	True	7:120768504	0
MUC20	200958	broad.mit.edu	37	3	195452870	195452870	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:195452870G>A	ENST00000320736.6	+	3	1009	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	MUC20_ENST00000445522.2_Missense_Mutation_p.E431K|MUC20_ENST00000436408.1_Missense_Mutation_p.E466K|MUC20_ENST00000447234.2_Missense_Mutation_p.E466K	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	466	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TGACTCCACTGAAGCAAAACC	0.617		NA											False	0	False	3:195452870	0
SUSD1	64420	broad.mit.edu	37	9	114904607	114904607	+	Silent	SNP	A	A	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr9:114904607A>G	ENST00000374270.3	-	5	871	c.699T>C	c.(697-699)caT>caC	p.H233H	SUSD1_ENST00000482851.1_5'UTR|SUSD1_ENST00000374263.3_Silent_p.H233H|SUSD1_ENST00000374264.2_Silent_p.H233H	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	233	Sushi 1.					integral to membrane	calcium ion binding	p.H233H(1)	SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CACCTTGGCAATGTAATTTTG	0.408		NA											False	0	False	9:114904607	0
SORBS2	8470	broad.mit.edu	37	4	186544317	186544317	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr4:186544317G>A	ENST00000431808.1	-	14	2817	c.2254C>T	c.(2254-2256)Ccg>Tcg	p.P752S	SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	752						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.P752S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGTTGTCCGGCAAGCTCCCC	0.522		NA											False	0	False	4:186544317	0
DENND5A	23258	broad.mit.edu	37	11	9187392	9187392	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:9187392G>A	ENST00000328194.3	-	11	2594	c.2274C>T	c.(2272-2274)tgC>tgT	p.C758C	DENND5A_ENST00000527700.1_Silent_p.C101C|DENND5A_ENST00000530044.1_Silent_p.C758C	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	758										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTTATTGCGGCATTCCTTCA	0.498		NA											False	0	False	11:9187392	0
FKBP6	8468	broad.mit.edu	37	7	72754662	72754662	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:72754662G>A	ENST00000252037.4	+	6	680	c.611G>A	c.(610-612)cGa>cAa	p.R204Q	FKBP6_ENST00000413573.2_Missense_Mutation_p.R174Q|FKBP6_ENST00000431982.2_Missense_Mutation_p.R199Q	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	204					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGCGCCGGCGATCAGCACCC	0.537		NA											False	0	False	7:72754662	0
XIRP2	129446	broad.mit.edu	37	2	168100148	168100148	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:168100148G>A	ENST00000409195.1	+	9	2335	c.2246G>A	c.(2245-2247)gGc>gAc	p.G749D	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G527D|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G749D|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	574					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGGTTCGGGCCAAATGCTG	0.383		NA											False	0	True	2:168100148	0
STARD3NL	0	broad.mit.edu	37	7	38256892	38256892	+	Missense_Mutation	SNP	C	C	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:38256892C>G	ENST00000009041.7	+	6	796	c.539C>G	c.(538-540)gCa>gGa	p.A180G	STARD3NL_ENST00000544203.1_Missense_Mutation_p.A173G|STARD3NL_ENST00000396013.1_Missense_Mutation_p.A180G|STARD3NL_ENST00000434197.1_Missense_Mutation_p.A162G	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	180	MENTAL.					integral to membrane|late endosome membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						CCTCAAGAAGCAGAAGAAGAA	0.483		NA											False	0	True	7:38256892	0
STX11	8676	broad.mit.edu	37	6	144507954	144507954	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:144507954C>T	ENST00000367568.4	+	2	373	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	64					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CGACGTGAAGCGGCTGGGAAA	0.622		NA							Familial Hemophagocytic Lymphohistiocytosis				False	0	False	6:144507954	0
HERC1	8925	broad.mit.edu	37	15	64025227	64025227	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr15:64025227C>T	ENST00000443617.2	-	14	2851	c.2764G>A	c.(2764-2766)Gga>Aga	p.G922R		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	922					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	p.G922*(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GACAGATTTCCGTAGCCAGTA	0.458		NA											False	0	False	15:64025227	0
USP37	57695	broad.mit.edu	37	2	219414540	219414540	+	Missense_Mutation	SNP	C	C	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:219414540C>A	ENST00000258399.3	-	6	833	c.421G>T	c.(421-423)Gac>Tac	p.D141Y	USP37_ENST00000415516.1_Missense_Mutation_p.D69Y|USP37_ENST00000418019.1_Missense_Mutation_p.D141Y|USP37_ENST00000338465.5_Missense_Mutation_p.D141Y|USP37_ENST00000454775.1_Missense_Mutation_p.D141Y	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	141					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		ACCTGATTGTCTGAGTAAGAA	0.488		NA											False	0	False	2:219414540	0
STEAP3	55240	broad.mit.edu	37	2	120005741	120005741	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:120005741C>T	ENST00000354888.5	+	4	1483	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	STEAP3_ENST00000450943.2_Missense_Mutation_p.R327C|STEAP3_ENST00000409811.1_Missense_Mutation_p.R327C|STEAP3_ENST00000425223.2_Missense_Mutation_p.R327C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393106.2_Missense_Mutation_p.R327C|STEAP3_ENST00000393107.2_Missense_Mutation_p.R327C|STEAP3_ENST00000393108.2_Missense_Mutation_p.R327C|STEAP3_ENST00000393110.2_Missense_Mutation_p.R337C	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	327	Ferric oxidoreductase.				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GCCGCTGCGCCGCGCCCACCG	0.647		NA											False	0	True	2:120005741	0
NPEPPS	9520	broad.mit.edu	37	17	45669380	45669380	+	Missense_Mutation	SNP	A	A	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:45669380A>G	ENST00000322157.4	+	11	1556	c.1319A>G	c.(1318-1320)aAa>aGa	p.K440R	NPEPPS_ENST00000530173.1_Missense_Mutation_p.K436R|NPEPPS_ENST00000544660.1_Missense_Mutation_p.K360R|NPEPPS_ENST00000525037.1_3'UTR	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	440					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TCATATAGCAAAGGTGCATCT	0.378		NA											False	0	True	17:45669380	0
RBBP6	5930	broad.mit.edu	37	16	24580170	24580170	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:24580170G>T	ENST00000319715.4	+	17	2591	c.2159G>T	c.(2158-2160)aGc>aTc	p.S720I	RBBP6_ENST00000348022.2_Missense_Mutation_p.S686I|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	720					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CGATCATTCAGCCGCTCACAT	0.438		NA											False	0	False	16:24580170	0
KCTD19	146212	broad.mit.edu	37	16	67333359	67333359	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:67333359G>A	ENST00000304372.5	-	6	948	c.893C>T	c.(892-894)cCg>cTg	p.P298L	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	298						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CGCAGAGTCCGGGTACTTGAC	0.622		NA											False	0	True	16:67333359	0
C9	735	broad.mit.edu	37	5	39331865	39331865	+	Missense_Mutation	SNP	G	G	C			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:39331865G>C	ENST00000263408.4	-	5	623	c.528C>G	c.(526-528)ttC>ttG	p.F176L	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	176	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GTCCATTGTAGAACTCATTGT	0.438		NA											False	0	False	5:39331865	0
FAM104B	90736	broad.mit.edu	37	X	55172586	55172586	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:55172586G>A	ENST00000425133.2	-	3	320	c.282C>T	c.(280-282)tcC>tcT	p.S94S	FAM104B_ENST00000489298.1_Silent_p.S92S|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000477847.2_Silent_p.S90S|FAM104B_ENST00000472571.2_3'UTR	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	0								p.S94S(1)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						GGTTGATATGGGAGTAAAGAC	0.478		NA											False	0	True	X:55172586	0
CHST15	51363	broad.mit.edu	37	10	125805512	125805512	+	Missense_Mutation	SNP	G	G	A	rs145631200		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr10:125805512G>A	ENST00000346248.5	-	2	859	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	CHST15_ENST00000421115.1_Missense_Mutation_p.R73C|CHST15_ENST00000435907.1_Missense_Mutation_p.R73C	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	73					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TTTTTGAAGCGCAAAAACCCA	0.453		NA											False	0	False	10:125805512	0
DHRS4L1	728635	broad.mit.edu	37	14	24517390	24517390	+	RNA	SNP	T	T	C			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:24517390T>C	ENST00000558293.1	+	0	463					NR_102693.1				dehydrogenase/reductase (SDR family) member 4 like 1	NA											NA						GGGAAGGCCCTAGCCCTAATG	0.507		NA											False	0	True	14:24517390	0
TAS1R2	80834	broad.mit.edu	37	1	19181067	19181067	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:19181067G>A	ENST00000375371.3	-	3	918	c.897C>T	c.(895-897)atC>atT	p.I299I	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	299					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	ACTCGGAGGCGATCCACACGG	0.642		NA											False	0	False	1:19181067	0
ATP12A	479	broad.mit.edu	37	13	25255720	25255720	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr13:25255720C>T	ENST00000218548.6	+	2	363	c.30C>T	c.(28-30)tcC>tcT	p.S10S	ATP12A_ENST00000381946.3_Silent_p.S10S	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	10					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AAATTTACTCCGTGGAGCTCA	0.522		NA											False	0	False	13:25255720	0
DRG1	4733	broad.mit.edu	37	22	31819348	31819348	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr22:31819348G>A	ENST00000331457.4	+	6	826	c.665G>A	c.(664-666)cGt>cAt	p.R222H		NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	222					multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding	p.R222H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						GTGACTCTACGTAGTGATGCT	0.478		NA											False	0	False	22:31819348	0
LRP1B	53353	broad.mit.edu	37	2	141200074	141200074	+	Splice_Site	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:141200074G>A	ENST00000389484.3	-	66	11384	c.10414_splice	c.e66+1	p.C3471_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3471	LDL-receptor class A 24.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GACACTCACCGCAGTTGGCCT	0.448		NA								TSP Lung(27;0.18)			False	0	False	2:141200074	0
ZNF536	9745	broad.mit.edu	37	19	30935392	30935392	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:30935392C>T	ENST00000355537.3	+	2	1070	c.923C>T	c.(922-924)gCg>gTg	p.A308V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGCGACTTCGCGGCTTCGCAG	0.642		NA											False	0	False	19:30935392	0
PCDHB6	0	broad.mit.edu	37	5	140530477	140530477	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:140530477G>A	ENST00000231136.1	+	1	639	c.639G>A	c.(637-639)gcG>gcA	p.A213A	PCDHB6_ENST00000543635.1_Silent_p.A77A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		213	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGATCGCGCTGGATGGCG	0.602		NA											False	0	False	5:140530477	0
CD164	8763	broad.mit.edu	37	6	109690132	109690132	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:109690132C>T	ENST00000368961.5	-	4	600	c.420G>A	c.(418-420)ctG>ctA	p.L140L	CD164_ENST00000506649.1_5'UTR|CD164_ENST00000504373.1_Silent_p.L138L|CD164_ENST00000413644.2_Silent_p.L172L|CD164_ENST00000512821.1_Intron|CD164_ENST00000310786.4_Silent_p.L172L|CD164_ENST00000275080.7_Silent_p.L159L|CD164_ENST00000324953.5_Silent_p.L153L			Q04900	MUC24_HUMAN	CD164 molecule, sialomucin	172	Thr-rich.				hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding			breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		CACCCAAGACCAGGACAATTC	0.388		NA											False	0	False	6:109690132	0
BAI1	575	broad.mit.edu	37	8	143569790	143569790	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr8:143569790C>T	ENST00000517894.1	+	14	3268	c.2374C>T	c.(2374-2376)Cgg>Tgg	p.R792W	BAI1_ENST00000323289.5_Missense_Mutation_p.R792W			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	792					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GAAGGGCTGGCGGGCCACGGG	0.632		NA											False	0	True	8:143569790	0
ISY1-RAB43	0	broad.mit.edu	37	3	128859253	128859253	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:128859253C>T	ENST00000418265.1	-	7	436	c.376G>A	c.(376-378)Gca>Aca	p.A126T	ISY1_ENST00000273541.8_Missense_Mutation_p.A126T|ISY1_ENST00000471497.1_5'UTR|ISY1_ENST00000393292.3_Missense_Mutation_p.A126T|ISY1_ENST00000393295.3_Missense_Mutation_p.A126T	NM_001204890.1	NP_001191819.1	Q9ULR0	ISY1_HUMAN		126						catalytic step 2 spliceosome					NA						AAATCTTTTGCTGCTCCAAAG	0.368		NA											False	0	False	3:128859253	0
LRP1B	53353	broad.mit.edu	37	2	141267495	141267495	+	Splice_Site	SNP	A	A	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:141267495A>G	ENST00000389484.3	-	52	9370		c.e52+1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	NA					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGTGTTCATACCGCAGCCTG	0.512		NA								TSP Lung(27;0.18)			False	0	False	2:141267495	0
WDR63	126820	broad.mit.edu	37	1	85575766	85575766	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:85575766C>T	ENST00000294664.6	+	16	1914	c.1734C>T	c.(1732-1734)caC>caT	p.H578H	WDR63_ENST00000326813.8_Silent_p.H539H|WDR63_ENST00000370596.1_Silent_p.H539H	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	578										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GTTTAGACCACTGTCCAACCA	0.388		NA											False	0	False	1:85575766	0
DKC1	1736	broad.mit.edu	37	X	154001414	154001414	+	Missense_Mutation	SNP	T	T	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:154001414T>A	ENST00000369550.5	+	11	1255	c.1045T>A	c.(1045-1047)Tta>Ata	p.L349I	DKC1_ENST00000475966.1_3'UTR	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	349	PUA.				cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGCTATTGCATTAATGACCAC	0.408		NA							Congenital Dyskeratosis				False	0	False	X:154001414	0
KRT26	353288	broad.mit.edu	37	17	38926251	38926251	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:38926251G>A	ENST00000335552.4	-	4	853	c.805C>T	c.(805-807)Cag>Tag	p.Q269*		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	269	Coil 2.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TTGCGGTTCTGCTCAGCCAAG	0.522		NA											False	0	False	17:38926251	0
OLFML2B	25903	broad.mit.edu	37	1	161953664	161953664	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:161953664G>A	ENST00000294794.3	-	8	2477	c.2054C>T	c.(2053-2055)gCc>gTc	p.A685V	OLFML2B_ENST00000367938.1_Missense_Mutation_p.A168V|OLFML2B_ENST00000367940.2_Missense_Mutation_p.A686V	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	685	Olfactomedin-like.							p.A685V(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCTATCCACGGCATACAGCAC	0.562		NA											False	0	False	1:161953664	0
MAP7D1	55700	broad.mit.edu	37	1	36638181	36638181	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:36638181C>T	ENST00000316156.4	+	4	1030	c.577C>T	c.(577-579)Cgt>Tgt	p.R193C	MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373151.2_Missense_Mutation_p.R193C|MAP7D1_ENST00000373150.4_Missense_Mutation_p.R193C			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	193						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CGAGCAACGCCGTGCAGCCCT	0.627		NA											False	0	False	1:36638181	0
DENND2C	163259	broad.mit.edu	37	1	115130471	115130471	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:115130471C>T	ENST00000393274.1	-	19	3159	c.2534G>A	c.(2533-2535)cGt>cAt	p.R845H	DENND2C_ENST00000393276.3_Missense_Mutation_p.R788H|DENND2C_ENST00000393277.1_Missense_Mutation_p.R733H|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	845	dDENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGGAAAACACGCTCCCCACG	0.478		NA											False	0	False	1:115130471	0
LGR4	55366	broad.mit.edu	37	11	27389696	27389696	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:27389696G>A	ENST00000379214.4	-	18	3017	c.2574C>T	c.(2572-2574)tgC>tgT	p.C858C	LGR4_ENST00000389858.4_Silent_p.C834C	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	858						integral to membrane|plasma membrane	protein-hormone receptor activity	p.C858C(1)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CGCAGCAGTCGCAAACAGTCA	0.458		NA											False	0	False	11:27389696	0
MECR	51102	broad.mit.edu	37	1	29543138	29543138	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:29543138G>A	ENST00000373791.3	-	2	380	c.8C>T	c.(7-9)gCg>gTg	p.A3V	MECR_ENST00000489248.1_5'UTR|MECR_ENST00000263702.6_Missense_Mutation_p.A79V	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	79					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GATAGGGGCCGCCAGCATCTT	0.463		NA											False	0	False	1:29543138	0
NDUFV2	4729	broad.mit.edu	37	18	9122540	9122540	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr18:9122540G>A	ENST00000400033.1	+	6	456	c.339G>A	c.(337-339)atG>atA	p.M113I	RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000318388.6_Missense_Mutation_p.M110I|RP11-21J18.1_ENST00000579126.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|RP11-143J12.2_ENST00000582375.1_RNA			P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	110					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|lung(4)|ovary(1)|stomach(1)	7					NADH(DB00157)	TACCTCCAATGAGAGTATATG	0.328		NA											False	0	False	18:9122540	0
STAB2	55576	broad.mit.edu	37	12	103988268	103988268	+	Missense_Mutation	SNP	G	G	A	rs151009841	byFrequency	TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:103988268G>A	ENST00000388887.2	+	3	515	c.311G>A	c.(310-312)cGc>cAc	p.R104H		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	104					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTCCTGGCCGCTGGGGCCCA	0.493		NA											False	0	False	12:103988268	0
OR52I1	390037	broad.mit.edu	37	11	4615445	4615445	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:4615445G>A	ENST00000450052.2	+	2	249	c.249G>A	c.(247-249)cgG>cgA	p.R83R	OR52I1_ENST00000530443.2_Silent_p.R59R			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTCCACTCGGCATGAGCCCA	0.517		NA											False	0	False	11:4615445	0
ATP10A	57194	broad.mit.edu	37	15	25947218	25947218	+	Missense_Mutation	SNP	C	C	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr15:25947218C>G	ENST00000356865.6	-	13	2716	c.2605G>C	c.(2605-2607)Gac>Cac	p.D869H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	869					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGGACTCCGTCCTGCAGGCGG	0.527		NA											False	0	False	15:25947218	0
