Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
EARS2	124454	broad.mit.edu	37	16	23536527	23536527	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr16:23536527G>A	ENST00000563232.1	-	8	1526	c.1526C>T	c.(1525-1527)cCc>cTc	p.P509L	EARS2_ENST00000563459.1_Intron|EARS2_ENST00000449606.1_Intron|EARS2_ENST00000564987.1_Intron|EARS2_ENST00000564501.1_Intron			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	0					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	atcaatGAGGGGCTCCAGGGA	0.483000													27	67					0	0	0.108266	0	0
FAM47A	158724	broad.mit.edu	37	X	34149589	34149589	+	Silent	SNP	A	A	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chrX:34149589A>C	ENST00000346193.3	-	1	858	c.807T>G	c.(805-807)tcT>tcG	p.S269S		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	269										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GCTTCCTCTCAGAATCCAGTT	0.587000													22	26					0	0	0.091800	0	0
TMEM237	65062	broad.mit.edu	37	2	202492078	202492078	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:202492078G>A	ENST00000409444.2	-	11	1296	c.979C>T	c.(979-981)Ctt>Ttt	p.L327F	TMEM237_ENST00000409883.2_Missense_Mutation_p.L335F	NM_152388.3	NP_689601.2	Q96Q45	TM237_HUMAN	transmembrane protein 237	359						integral to membrane	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						GGTGTGTAAAGGTGGATTCTG	0.333000													3	15					0	0	0.115264	0	0
PKP3	11187	broad.mit.edu	37	11	404005	404005	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:404005C>T	ENST00000331563.2	+	11	2216	c.2140C>T	c.(2140-2142)Cca>Tca	p.P714S		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	714					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAAGTCGCCCCCAGCCGAGGT	0.627000													24	70					0	0	0.076483	0	0
TENM1	10178	broad.mit.edu	37	X	123699280	123699280	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chrX:123699280G>T	ENST00000422452.2	-	12	2271	c.2208C>A	c.(2206-2208)tgC>tgA	p.C736*	TENM1_ENST00000371130.3_Nonsense_Mutation_p.C736*	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TTCCATCTTTGCATTGGCCAT	0.468000													4	56					0.00909568	0.00933132	0.150653	1	0
BEND5	79656	broad.mit.edu	37	1	49202065	49202065	+	Silent	SNP	G	G	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:49202065G>C	ENST00000371833.3	-	5	1040	c.954C>G	c.(952-954)acC>acG	p.T318T	AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	318	BEN.									large_intestine(5)|lung(2)|skin(1)	8						AATCTCCTTGGGTTACTTGTA	0.468000													6	234					0	0	0.029380	0	0
SEC16A	9919	broad.mit.edu	37	9	139339534	139339534	+	Silent	SNP	T	T	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr9:139339534T>C	ENST00000313050.7	-	28	6970	c.6897A>G	c.(6895-6897)ttA>ttG	p.L2299L	SEC16A_ENST00000313084.5_Silent_p.L327L|SEC16A_ENST00000290037.6_Intron|SEC16A_ENST00000371706.3_Intron|SEC16A_ENST00000431893.2_Silent_p.L2096L	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2121					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTTCACGTGATAATGAACTCA	0.498000													7	9					0	0	0.038147	0	0
TP53	7157	broad.mit.edu	37	17	7577507	7577507	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:7577507T>A	ENST00000420246.2	-	7	906	c.774A>T	c.(772-774)gaA>gaT	p.E258D	TP53_ENST00000445888.2_Missense_Mutation_p.E258D|TP53_ENST00000269305.4_Missense_Mutation_p.E258D|TP53_ENST00000359597.4_Missense_Mutation_p.E258D|TP53_ENST00000413465.2_Missense_Mutation_p.E258D|TP53_ENST00000455263.2_Missense_Mutation_p.E258D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	258	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (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.E258D(9)|p.0?(8)|p.D259fs*5(1)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.D259fs*86(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.E258del(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)		ACCTGGAGTCTTCCAGTGTGA	0.577000		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)			31	31					0	0	0.144211	0	0
OR13C9	286362	broad.mit.edu	37	9	107380278	107380278	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr9:107380278C>A	ENST00000259362.1	-	1	207	c.208G>T	c.(208-210)Gac>Tac	p.D70Y		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TAGCAGATGTCCAAGAAGGAG	0.478000													48	124					4.44712e-29	4.9468e-29	0.139131	1	0
SLC2A7	155184	broad.mit.edu	37	1	9086388	9086388	+	Missense_Mutation	SNP	G	G	T	rs150973958	byFrequency	TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:9086388G>T	ENST00000400906.1	-	1	16	c.17C>A	c.(16-18)gCg>gAg	p.A6E		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	6						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGGGGTTCCCGCCTCTTTGTT	0.582000													7	24					1.06961e-07	1.13253e-07	0.038147	1	0
CDH1	999	broad.mit.edu	37	16	68853291	68853291	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr16:68853291C>A	ENST00000261769.5	+	11	1865	c.1674C>A	c.(1672-1674)aaC>aaA	p.N558K	CDH1_ENST00000422392.2_Missense_Mutation_p.N497K|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	558	Cadherin 4.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		ACGTGAAGAACAGCACGTACA	0.537000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				4	101					0.00909568	0.00933132	0.150653	1	0
BCL9	607	broad.mit.edu	37	1	147086390	147086390	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:147086390G>A	ENST00000234739.3	+	6	1275	c.535G>A	c.(535-537)Gtg>Atg	p.V179M	BCL9_ENST00000473292.1_3'UTR	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	179					Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGTGGTGTACGTGTTTTCTAC	0.507000			T	"""IGH@, IGL@"""	B-ALL								13	52					0	0	0.105934	0	0
POU6F2	11281	broad.mit.edu	37	7	39247047	39247047	+	Silent	SNP	C	C	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr7:39247047C>A	ENST00000518318.2	+	4	381	c.339C>A	c.(337-339)ggC>ggA	p.G113G	POU6F2_ENST00000403058.1_Silent_p.G113G|POU6F2_ENST00000559001.1_Silent_p.G105G|POU6F2_ENST00000517348.1_3'UTR			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	113					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TGCCGGGAGGCCCCCCAGCCC	0.577000													79	200					1.31969e-37	1.47626e-37	0.139131	1	0
RUNX1T1	862	broad.mit.edu	37	8	92972691	92972691	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr8:92972691C>A	ENST00000523629.1	-	12	2048	c.1594G>T	c.(1594-1596)Gcc>Tcc	p.A532S	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.A505S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.A495S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.A543S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.A505S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.A495S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.A532S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.A495S	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	532					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CAGTATCGGGCTGTGTTACAG	0.522000													16	49					0.000422831	0.000440635	0.146539	1	0
CDH19	28513	broad.mit.edu	37	18	64239355	64239355	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr18:64239355C>G	ENST00000262150.2	-	2	379	c.87G>C	c.(85-87)aaG>aaC	p.K29N	CDH19_ENST00000540086.1_Missense_Mutation_p.K29N	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	29					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GCTTGACTTTCTTTGTTTGAG	0.428000													19	39					0	0	0.043863	0	0
MUC5AC	4586	broad.mit.edu	37	11	1155707	1155707	+	Silent	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:1155707C>T	ENST00000356191.2	+	5	393	c.393C>T	c.(391-393)caC>caT	p.H131H						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GCGGCCCCCACGCTGAGCAGG	0.632000													13	28					0	0	0.093190	0	0
MYH14	79784	broad.mit.edu	37	19	50785002	50785002	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:50785002G>A	ENST00000440075.2	+	33	4489	c.4442G>A	c.(4441-4443)cGc>cAc	p.R1481H	MYH14_ENST00000262269.8_Missense_Mutation_p.R1481H|MYH14_ENST00000376970.2_Missense_Mutation_p.R1473H|MYH14_ENST00000601313.1_Missense_Mutation_p.R1481H|MYH14_ENST00000425460.1_Missense_Mutation_p.R1448H|MYH14_ENST00000598205.1_Missense_Mutation_p.R1448H|MYH14_ENST00000596571.1_Missense_Mutation_p.R1440H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1440					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CGGGGCCGCCGCCGGCTGCAG	0.701000													5	15					0	0	0.047766	0	0
PPP1R1C	151242	broad.mit.edu	37	2	182852607	182852607	+	Silent	SNP	C	C	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:182852607C>G	ENST00000409137.3	+	2	366	c.123C>G	c.(121-123)ctC>ctG	p.L41L	PPP1R1C_ENST00000475249.1_Intron|PPP1R1C_ENST00000452904.1_Silent_p.L41L|PPP1R1C_ENST00000409702.1_Silent_p.L41L|PPP1R1C_ENST00000280295.3_Silent_p.L48L	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1C	41					signal transduction	cytoplasm	protein phosphatase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			TTGTGATTCTCAATGAGCATA	0.408000													86	189					0	0	0.139131	0	0
ZNF266	10781	broad.mit.edu	37	19	9524051	9524051	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:9524051T>C	ENST00000592904.1	-	5	3626	c.1550A>G	c.(1549-1551)gAg>gGg	p.E517G	ZNF266_ENST00000361151.1_Missense_Mutation_p.E517G|ZNF266_ENST00000588933.1_Missense_Mutation_p.E517G|ZNF266_ENST00000592292.1_Missense_Mutation_p.E517G|ZNF266_ENST00000361451.2_Missense_Mutation_p.E517G|ZNF266_ENST00000590306.1_Missense_Mutation_p.E517G|ZNF266_ENST00000588221.1_Missense_Mutation_p.E517G			Q14584	ZN266_HUMAN	zinc finger protein 266	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						ATAGGGTTTCTCTCCAGTGTG	0.438000													47	116					0	0	0.124865	0	0
FASTKD3	79072	broad.mit.edu	37	5	7867445	7867445	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr5:7867445A>T	ENST00000264669.5	-	2	888	c.752T>A	c.(751-753)tTt>tAt	p.F251Y	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	251					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTCCGGGGTAAATGTTTCCAA	0.363000													43	296					0	0	0.098360	0	0
KDM4E	390245	broad.mit.edu	37	11	94759470	94759470	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:94759470T>C	ENST00000450979.2	+	1	1049	c.749T>C	c.(748-750)gTt>gCt	p.V250A		NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN	lysine (K)-specific demethylase 4E	250	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						TCGCCTACAGTTCTCAAGGAA	0.567000													16	19					0	0	0.132662	0	0
ACSBG2	81616	broad.mit.edu	37	19	6187796	6187796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:6187796C>T	ENST00000588304.1	+	13	2163	c.1717C>T	c.(1717-1719)Cag>Tag	p.Q573*	ACSBG2_ENST00000252669.5_Nonsense_Mutation_p.Q623*|ACSBG2_ENST00000588485.1_Nonsense_Mutation_p.Q436*|ACSBG2_ENST00000586696.1_Nonsense_Mutation_p.Q623*|ACSBG2_ENST00000591403.1_Nonsense_Mutation_p.Q623*|ACSBG2_ENST00000591741.1_3'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	623					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAACAATGCACAGAGGATTGA	0.507000													54	159					0	0	0.139131	0	0
GNPTAB	79158	broad.mit.edu	37	12	102151077	102151077	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr12:102151077A>G	ENST00000299314.7	-	18	3609	c.3347T>C	c.(3346-3348)aTg>aCg	p.M1116T		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1116					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TTCTTCTCCCATGATTTCAAA	0.284000													7	45					0	0	0.038147	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91338426	91338426	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr14:91338426C>T	ENST00000261991.3	-	17	2574	c.2401G>A	c.(2401-2403)Gta>Ata	p.V801I	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.V722I	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	801				VA -> ELRHGRSDQ (in Ref. 3; AAC69577).	axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		GCCTAAGCTACTGAGTCCGAG	0.483000													54	128					0	0	0.139131	0	0
NLRP12	91662	broad.mit.edu	37	19	54327177	54327177	+	Silent	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:54327177G>A	ENST00000324134.6	-	1	420	c.252C>T	c.(250-252)gaC>gaT	p.D84D	NLRP12_ENST00000535162.1_Silent_p.D84D|NLRP12_ENST00000345770.5_Silent_p.D84D|NLRP12_ENST00000391775.3_Silent_p.D84D|NLRP12_ENST00000354278.3_Silent_p.D84D|NLRP12_ENST00000351894.4_Silent_p.D84D|NLRP12_ENST00000391773.1_Silent_p.D84D|NLRP12_ENST00000391772.1_Silent_p.D84D	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	84	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCTCCCACAGGTCCTTCCTGT	0.607000													94	216					0	0	0.139131	0	0
NUP88	4927	broad.mit.edu	37	17	5312067	5312067	+	Silent	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:5312067G>A	ENST00000573584.1	-	5	1352	c.843C>T	c.(841-843)atC>atT	p.I281I		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	281					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						GTAACAGACTGATGTATGTCA	0.438000													86	64					0	0	0.139131	0	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130652958	130652958	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr9:130652958C>T	ENST00000373146.1	-	5	841	c.662G>A	c.(661-663)cGg>cAg	p.R221Q	ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.R187Q|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.R221Q|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.R221Q|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.R187Q			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	221					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTCAAATTGCCGCATGCGGCC	0.642000													69	54					0	0	0.139131	0	0
WDR17	116966	broad.mit.edu	37	4	177067239	177067239	+	Silent	SNP	T	T	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr4:177067239T>C	ENST00000393643.2	+	12	1875	c.1623T>C	c.(1621-1623)caT>caC	p.H541H	WDR17_ENST00000507824.2_Silent_p.H548H|WDR17_ENST00000280190.4_Silent_p.H565H|WDR17_ENST00000508596.1_Silent_p.H541H	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	565										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTAGTGGGCATACAGCAAAAG	0.388000													40	166					0	0	0.086207	0	0
ZBTB41	360023	broad.mit.edu	37	1	197145781	197145781	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:197145781G>A	ENST00000367405.4	-	7	1860	c.1792C>T	c.(1792-1794)Cat>Tat	p.H598Y	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	598					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TTATCATCATGATGTACTCGT	0.299000													38	127					0	0	0.074837	0	0
STARD10	10809	broad.mit.edu	37	11	72468875	72468875	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:72468875G>A	ENST00000334805.6	-	5	1433	c.514C>T	c.(514-516)Ctc>Ttc	p.L172F	STARD10_ENST00000545082.1_Missense_Mutation_p.L143F|STARD10_ENST00000543304.1_Missense_Mutation_p.L172F|ARAP1_ENST00000359373.5_Intron|STARD10_ENST00000538437.1_Intron|STARD10_ENST00000538536.1_Missense_Mutation_p.L126F	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	StAR-related lipid transfer (START) domain containing 10	172	START.									endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			CTCTGGATGAGGTAGCCCGTC	0.612000													35	47					0	0	0.183431	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68008608	68008608	+	Silent	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr14:68008608G>A	ENST00000329153.5	+	2	156	c.24G>A	c.(22-24)gcG>gcA	p.A8A		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	8						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGGTGGAGGCGCCGGCCAGCG	0.537000													3	10					0	0	0.115264	0	0
PARP9	83666	broad.mit.edu	37	3	122269638	122269638	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr3:122269638A>C	ENST00000462315.1	-	6	1412	c.1119T>G	c.(1117-1119)caT>caG	p.H373Q	PARP9_ENST00000360356.2_Missense_Mutation_p.H408Q|PARP9_ENST00000471785.1_Missense_Mutation_p.H373Q|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000477522.2_Missense_Mutation_p.H373Q	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	408	Macro 2.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CCTTCATTGCATGTTTTAATA	0.378000													23	64					0	0	0.076483	0	0
COL6A6	131873	broad.mit.edu	37	3	130289727	130289727	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr3:130289727G>C	ENST00000358511.6	+	6	2498	c.2467G>C	c.(2467-2469)Gat>Cat	p.D823H	COL6A6_ENST00000453409.2_Missense_Mutation_p.D823H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	823	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TATTGACTATGATGAGTATAA	0.398000													30	84					0	0	0.125774	0	0
TIAL1	7073	broad.mit.edu	37	10	121336662	121336662	+	Missense_Mutation	SNP	G	G	A	rs148932828	byFrequency	TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr10:121336662G>A	ENST00000369092.4	-	11	1730	c.422C>T	c.(421-423)aCg>aTg	p.T141M	TIAL1_ENST00000369093.2_Missense_Mutation_p.T281M|TIAL1_ENST00000436547.2_Missense_Mutation_p.T264M|TIAL1_ENST00000463089.2_5'UTR			Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	264	RRM 2.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		TCCTTCAATCGTAGTACCGTT	0.348000													36	34					0	0	0.086207	0	0
GPR137C	283554	broad.mit.edu	37	14	53098999	53098999	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr14:53098999A>C	ENST00000321662.6	+	4	839	c.839A>C	c.(838-840)aAt>aCt	p.N280T		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	280						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					AGTCCATTTAATTATGGCTGG	0.388000													30	69					0	0	0.086207	0	0
PNMA1	9240	broad.mit.edu	37	14	74179621	74179621	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr14:74179621T>C	ENST00000316836.3	-	1	1507	c.722A>G	c.(721-723)gAg>gGg	p.E241G		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	241					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		cctagagctctcaacgctccc	0.517000													41	115					0	0	0.098360	0	0
PAX6	5080	broad.mit.edu	37	11	31816281	31816281	+	Silent	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:31816281G>A	ENST00000419022.1	-	9	1089	c.621C>T	c.(619-621)aaC>aaT	p.N207N	PAX6_ENST00000379123.5_Silent_p.N193N|PAX6_ENST00000379115.4_Silent_p.N207N|PAX6_ENST00000241001.8_Silent_p.N193N|PAX6_ENST00000379107.2_Silent_p.N207N|PAX6_ENST00000379132.3_Silent_p.N193N|PAX6_ENST00000379111.2_Silent_p.N193N|PAX6_ENST00000379129.2_Silent_p.N207N	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	193	Gln/Gly-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					AATCTTCTCCGTTGGAACTGA	0.453000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				34	101					0	0	0.173368	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr22:22664743G>A	ENST00000426066.1	+	0	924					NR_027293.1																						CAGACTAAAGGCAAACAAGGA	0.498000													4	68					0	0	0.150653	0	0
PRPF40B	25766	broad.mit.edu	37	12	50037938	50037938	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr12:50037938G>A	ENST00000261897.1	+	25	3091	c.2540G>A	c.(2539-2541)cGg>cAg	p.R847Q	PRPF40B_ENST00000380281.1_Missense_Mutation_p.R860Q|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Missense_Mutation_p.R881Q			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	860					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GAGAGGCGGCGGCGGACACTC	0.607000											OREG0021798	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	62					0	0	0.043863	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179815800	179815800	+	Silent	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:179815800C>T	ENST00000367612.3	-	6	1206	c.819G>A	c.(817-819)ctG>ctA	p.L273L		NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	273						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						CTCTCTGCCACAGGAAGGAAC	0.522000													28	139					0	0	0.116897	0	0
METRNL	284207	broad.mit.edu	37	17	81043036	81043036	+	Silent	SNP	A	A	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:81043036A>G	ENST00000571814.1	+	1	1088	c.147A>G	c.(145-147)gtA>gtG	p.V49V	METRNL_ENST00000320095.7_Silent_p.V131V|METRNL_ENST00000570778.1_Silent_p.V49V			Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	131						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GACTGCTGGTACCAGACGGGG	0.632000													72	42					0	0	0.139131	0	0
LRRC27	80313	broad.mit.edu	37	10	134188714	134188714	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr10:134188714G>A	ENST00000368610.3	+	10	1375	c.1375G>A	c.(1375-1377)Gga>Aga	p.G459R	LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000368613.4_Missense_Mutation_p.G521R|LRRC27_ENST00000368614.3_Missense_Mutation_p.G521R|LRRC27_ENST00000368612.1_Missense_Mutation_p.G459R			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	521										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CACAAAATATGGAGAATCAGG	0.522000													20	25					0	0	0.062417	0	0
TRPC7	57113	broad.mit.edu	37	5	135587503	135587503	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr5:135587503C>T	ENST00000513104.1	-	6	1695	c.1413G>A	c.(1411-1413)tgG>tgA	p.W471*	TRPC7_ENST00000355180.3_Nonsense_Mutation_p.W410*|TRPC7_ENST00000426057.2_Nonsense_Mutation_p.W355*	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	471					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTAGCAGGTTCCACAAGTGCA	0.567000													32	47					0	0	0.064281	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43980883	43980883	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:43980883C>T	ENST00000282406.4	+	25	3889	c.3779C>T	c.(3778-3780)gCa>gTa	p.A1260V		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1260	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTAGAAATGGCAGCTCTTTTA	0.299000													58	86					0	0	0.139131	0	0
DCST2	127579	broad.mit.edu	37	1	155004226	155004226	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:155004226C>T	ENST00000368424.3	-	4	621	c.563G>A	c.(562-564)tGg>tAg	p.W188*	DCST2_ENST00000295536.5_Nonsense_Mutation_p.W188*	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	188						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAGCCACTGCCACACATTCCG	0.582000													6	19					0	0	0.105934	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1812698	1812698	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr16:1812698G>A	ENST00000250894.4	+	15	1847	c.1690G>A	c.(1690-1692)Gtc>Atc	p.V564I	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.V558I	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	564					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GCACCCATCCGTCCAGGAGAA	0.662000													81	165					0	0	0.139131	0	0
SFSWAP	6433	broad.mit.edu	37	12	132237706	132237706	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr12:132237706C>T	ENST00000261674.4	+	8	1261	c.1120C>T	c.(1120-1122)Ccg>Tcg	p.P374S	SFSWAP_ENST00000541286.1_Missense_Mutation_p.P374S	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	374					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CTACATGCTACCGGACGGCAC	0.612000													56	119					0	0	0.139131	0	0
LRP1B	53353	broad.mit.edu	37	2	141777529	141777529	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:141777529C>A	ENST00000389484.3	-	12	2903	c.1932G>T	c.(1930-1932)atG>atT	p.M644I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	644					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)		TGGGATGAGACATTTCACCCT	0.368000										TSP Lung(27;0.18)			35	113					9.8876e-21	1.08764e-20	0.074837	1	0
CCDC9	26093	broad.mit.edu	37	19	47763905	47763905	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:47763905A>T	ENST00000221922.6	+	5	493	c.271A>T	c.(271-273)Aag>Tag	p.K91*		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	91	Gly-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		AGGGGCCAGCAAGGGGGGCCG	0.706000													28	96					0	0	0.116897	0	0
NPFFR2	10886	broad.mit.edu	37	4	73012714	73012714	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr4:73012714C>A	ENST00000308744.6	+	4	852	c.754C>A	c.(754-756)Cct>Act	p.P252T	NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.P153T|NPFFR2_ENST00000358749.3_Missense_Mutation_p.P150T|NPFFR2_ENST00000506359.1_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	252					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TGTGGTCTACCCTTTTAAACC	0.378000													98	280					3.77759e-48	4.27407e-48	0.139131	1	0
STX8	9482	broad.mit.edu	37	17	9395196	9395196	+	Missense_Mutation	SNP	C	C	T	rs143935601		TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:9395196C>T	ENST00000306357.3	-	6	918	c.491G>A	c.(490-492)cGc>cAc	p.R164H	STX8_ENST00000574431.1_Missense_Mutation_p.R53H	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8	164	t-SNARE coiled-coil homology.				transport	endoplasmic reticulum|integral to plasma membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						TTGTTTTTGGCGACTTATGAT	0.363000													109	117					0	0	0.139131	0	0
SEPT12	124404	broad.mit.edu	37	16	4833975	4833975	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr16:4833975G>A	ENST00000268231.8	-	5	732	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	SEPT12_ENST00000396693.5_Intron	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	157					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CAGTGCACCCGGGTGTCTGGG	0.637000													49	133					0	0	0.139131	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	171356	171356	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr5:171356A>G	ENST00000283426.6	+	14	2829	c.2779A>G	c.(2779-2781)Atg>Gtg	p.M927V		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	927	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGGTGACAAAATGGACCTGGC	0.697000													46	19					0	0	0.139131	0	0
PHF23	79142	broad.mit.edu	37	17	7139299	7139299	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:7139299G>A	ENST00000320316.3	-	4	1173	c.947C>T	c.(946-948)tCc>tTc	p.S316F	PHF23_ENST00000571362.1_Missense_Mutation_p.S249F|PHF23_ENST00000576955.1_Missense_Mutation_p.S186F|PHF23_ENST00000454255.2_Missense_Mutation_p.S312F	NM_024297.2	NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	316							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GCCTTCACTGGAGCTGGCATC	0.587000													416	274					0	0	0.139131	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145290477	145290477	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:145290477C>G	ENST00000344859.3	+	5	1045	c.683C>G	c.(682-684)tCa>tGa	p.S228*	RP11-458D21.5_ENST00000468030.1_Intron|NBPF10_ENST00000369339.2_5'UTR|NOTCH2NL_ENST00000479995.2_3'UTR			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	0					cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GAAAAGGAATCATACTGCTAA	0.368000													13	447					0	0	0.132662	0	0
SLC6A12	6539	broad.mit.edu	37	12	301770	301770	+	Silent	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr12:301770G>A	ENST00000428720.1	-	15	2318	c.1575C>T	c.(1573-1575)taC>taT	p.Y525Y	SLC6A12_ENST00000536824.1_Silent_p.Y525Y|SLC6A12_ENST00000359674.4_Silent_p.Y525Y|SLC6A12_ENST00000397296.2_Silent_p.Y525Y|SLC6A12_ENST00000424061.2_Silent_p.Y525Y	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	525					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			AGACGTTGTTGTACTTGAGGG	0.572000													41	110					0	0	0.104719	0	0
REL	5966	broad.mit.edu	37	2	61118932	61118932	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:61118932A>T	ENST00000295025.7	+	2	445	c.125A>T	c.(124-126)gAc>gTc	p.D42V	REL_ENST00000394479.3_Missense_Mutation_p.D42V	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	42	RHD.				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			CACAGCACAGACAACAACCGA	0.413000			A		Hodgkin Lymphoma								50	139					0	0	0.139131	0	0
BMP1	649	broad.mit.edu	37	8	22053789	22053789	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr8:22053789C>T	ENST00000397814.3	+	14	1980	c.1861C>T	c.(1861-1863)Cga>Tga	p.R621*	BMP1_ENST00000397816.3_Intron|BMP1_ENST00000306385.5_Intron|BMP1_ENST00000354870.5_Intron|BMP1_ENST00000306349.8_Intron			P13497	BMP1_HUMAN	bone morphogenetic protein 1	0	CUB 3.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GACAGCACTCCGAGGCTAATG	0.612000													31	29					0	0	0.144211	0	0
ZNF676	163223	broad.mit.edu	37	19	22363783	22363783	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:22363783T>C	ENST00000397121.2	-	3	1053	c.736A>G	c.(736-738)Att>Gtt	p.I246V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CCAGTATGAATTATCTTATGT	0.358000													17	194					0	0	0.043863	0	0
LOC101929735	101929735	broad.mit.edu	37	14	22935100	22935100	+	RNA	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr14:22935100G>A	ENST00000514473.2	-	0	225				AE000661.37_ENST00000556777.1_RNA																							CGTGGAGGAGGACAAAGTTTC	0.438000													5	20					0	0	0.014758	0	0
PODNL1	79883	broad.mit.edu	37	19	14044707	14044707	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:14044707C>G	ENST00000538517.2	-	5	743	c.499G>C	c.(499-501)Gat>Cat	p.D167H	PODNL1_ENST00000538371.2_Missense_Mutation_p.D256H|PODNL1_ENST00000254320.3_Missense_Mutation_p.D176H|PODNL1_ENST00000339560.5_Missense_Mutation_p.D258H	NM_001146255.1	NP_001139727.1	Q6PEZ8	PONL1_HUMAN	podocan-like 1	258	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			GTGGTGGCATCCAGGCCACTG	0.612000													3	17					0	0	0.115264	0	0
MDN1	23195	broad.mit.edu	37	6	90385185	90385185	+	Silent	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:90385185G>A	ENST00000369393.3	-	78	12874	c.12759C>T	c.(12757-12759)ctC>ctT	p.L4253L	RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Silent_p.L4253L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4253					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCTGATACCTGAGGATGATCC	0.527000													29	69					0	0	0.108266	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94697030	94697030	+	Silent	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:94697030C>T	ENST00000260526.6	-	2	320	c.138G>A	c.(136-138)aaG>aaA	p.K46K	ARHGAP29_ENST00000370217.3_Silent_p.K46K	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	46					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCACCAACTCCTTGATGTAAT	0.388000													58	107					0	0	0.139131	0	0
RTN4RL2	349667	broad.mit.edu	37	11	57243919	57243919	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:57243919C>G	ENST00000335099.3	+	3	1115	c.798C>G	c.(796-798)gaC>gaG	p.D266E		NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2	266	LRRCT.				axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GGGCGTGCGACTGCCGCGCGC	0.741000													4	17					0	0	0.038147	0	0
SYBU	55638	broad.mit.edu	37	8	110631186	110631186	+	Silent	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr8:110631186G>A	ENST00000399066.3	-	2	1030	c.303C>T	c.(301-303)tgC>tgT	p.C101C	SYBU_ENST00000532779.1_Silent_p.C36C|SYBU_ENST00000533895.1_Silent_p.C103C|SYBU_ENST00000446070.2_Silent_p.C103C|SYBU_ENST00000528647.1_Silent_p.C103C|SYBU_ENST00000424158.2_Silent_p.C109C|SYBU_ENST00000440310.1_Silent_p.C104C|SYBU_ENST00000422135.1_Silent_p.C104C|SYBU_ENST00000528331.1_5'UTR|SYBU_ENST00000433638.1_Silent_p.C104C|SYBU_ENST00000408889.3_5'UTR|SYBU_ENST00000408908.2_Silent_p.C104C|SYBU_ENST00000533171.1_Silent_p.C104C|SYBU_ENST00000419099.1_Silent_p.C103C|SYBU_ENST00000276646.9_Silent_p.C104C|SYBU_ENST00000533065.1_5'UTR	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	104	Ser-rich.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CACTTCCAGGGCAAAAGCCAA	0.478000													5	202					0	0	0.021553	0	0
TNFAIP6	7130	broad.mit.edu	37	2	152235971	152235971	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:152235971C>T	ENST00000243347.3	+	6	833	c.758C>T	c.(757-759)tCc>tTc	p.S253F		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	253					cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		GTATCCAAATCCAGTCAAGGA	0.338000													62	165					0	0	0.139131	0	0
OR10X1	128367	broad.mit.edu	37	1	158549182	158549182	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:158549182A>G	ENST00000368150.1	-	1	507	c.508T>C	c.(508-510)Ttt>Ctt	p.F170L		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	170					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)					AGAGAGATAAAGAAGCCTGCA	0.468000													26	64					0	0	0.099896	0	0
ZNF236	7776	broad.mit.edu	37	18	74631933	74631933	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr18:74631933C>T	ENST00000253159.8	+	20	3668	c.3470C>T	c.(3469-3471)gCg>gTg	p.A1157V	ZNF236_ENST00000320610.9_Missense_Mutation_p.A1159V	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1157					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GACAAGCAGGCGGAGCTGCAG	0.627000													13	24					0	0	0.093190	0	0
ANO1	55107	broad.mit.edu	37	11	70028647	70028647	+	Silent	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:70028647C>T	ENST00000355303.5	+	24	2748	c.2443C>T	c.(2443-2445)Ctg>Ttg	p.L815L	ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000531349.1_Silent_p.L524L|ANO1_ENST00000530676.1_Silent_p.L669L|ANO1_ENST00000398543.2_Silent_p.L669L|ANO1_ENST00000538023.1_Silent_p.L815L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	815					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CATCCCGCGCCTGGTGTACCT	0.617000													23	322					0	0	0.069288	0	0
ZNF292	23036	broad.mit.edu	37	6	87969654	87969654	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:87969654G>C	ENST00000369577.3	+	8	6350	c.6307G>C	c.(6307-6309)Gag>Cag	p.E2103Q	ZNF292_ENST00000339907.4_Missense_Mutation_p.E2098Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CCAATCCCTTGAGTTTCCAAC	0.413000													29	89					0	0	0.134883	0	0
GAPVD1	26130	broad.mit.edu	37	9	128112629	128112629	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr9:128112629C>T	ENST00000470056.1	+	19	3434	c.3274C>T	c.(3274-3276)Cca>Tca	p.P1092S	GAPVD1_ENST00000394104.2_Missense_Mutation_p.P1137S|GAPVD1_ENST00000312123.9_Missense_Mutation_p.P1098S|GAPVD1_ENST00000394083.2_Missense_Mutation_p.P1071S|GAPVD1_ENST00000297933.6_Missense_Mutation_p.P1119S|GAPVD1_ENST00000265956.4_Missense_Mutation_p.P1111S|GAPVD1_ENST00000394105.2_Missense_Mutation_p.P1146S|GAPVD1_ENST00000495955.1_Missense_Mutation_p.P1137S			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1137					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGTTGCCTTCCCAGTGCTGAC	0.403000													99	87					0	0	0.139131	0	0
TRPM2	7226	broad.mit.edu	37	21	45837865	45837865	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr21:45837865C>T	ENST00000397928.1	+	21	3647	c.3202C>T	c.(3202-3204)Cat>Tat	p.H1068Y	TRPM2_ENST00000300482.5_Missense_Mutation_p.H1068Y|TRPM2_ENST00000397932.2_Missense_Mutation_p.H1068Y|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.H1048Y	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1068						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GTTCCAGCGCCATGACCTGAT	0.612000													34	77					0	0	0.173368	0	0
E2F4	1874	broad.mit.edu	37	16	67228755	67228755	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr16:67228755C>T	ENST00000379378.3	+	6	739	c.680C>T	c.(679-681)cCt>cTt	p.P227L		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	227					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		ACACCTCCACCTCTGCCCAAG	0.597000													48	95					0	0	0.139131	0	0
ANKS3	124401	broad.mit.edu	37	16	4747373	4747373	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr16:4747373C>T	ENST00000304283.4	-	16	2149	c.1855G>A	c.(1855-1857)Gag>Aag	p.E619K	ANKS3_ENST00000585773.1_Missense_Mutation_p.E546K|ANKS3_ENST00000446014.2_Missense_Mutation_p.E490K	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	619										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						CCCGAGAGCTCGGGGAGGCTC	0.657000													48	119					0	0	0.139131	0	0
CSPP1	79848	broad.mit.edu	37	8	68102908	68102908	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr8:68102908G>A	ENST00000262210.5	+	27	3260	c.3229G>A	c.(3229-3231)Gcc>Acc	p.A1077T	CSPP1_ENST00000412460.1_Missense_Mutation_p.A732T|ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1112						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)			GACATATCCTGCCATTGAAGA	0.483000													38	81					0	0	0.098360	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111913273	111913273	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:111913273G>A	ENST00000368761.5	-	2	495	c.17C>T	c.(16-18)cCt>cTt	p.P6L	TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.P6L|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.P15L|TRAF3IP2_ENST00000392556.4_5'UTR	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	15					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		AACCTCCACAGGAATGCTTCG	0.423000													48	125					0	0	0.139131	0	0
LOC645166	645166	broad.mit.edu	37	1	148933289	148933289	+	RNA	SNP	A	A	G	rs9729175	by1000genomes	TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:148933289A>G	ENST00000539543.1	+	0	176					NR_027355.1																						TGCTGCCCGCAGGATATTGTG	0.562000													3	21					0	0	0.038147	0	0
DPH7	92715	broad.mit.edu	37	9	140473185	140473185	+	Silent	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr9:140473185G>A	ENST00000277540.2	-	1	202	c.45C>T	c.(43-45)acC>acT	p.T15T	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1			diphthamide biosynthesis 7																		CCGAGTCCGCGGTCAGCTCGG	0.746000													7	2					0	0	0.029380	0	0
TNC	3371	broad.mit.edu	37	9	117848842	117848842	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr9:117848842C>T	ENST00000350763.4	-	3	1579	c.1168G>A	c.(1168-1170)Ggg>Agg	p.G390R	TNC_ENST00000341037.4_Missense_Mutation_p.G390R|TNC_ENST00000423613.2_Missense_Mutation_p.G390R|TNC_ENST00000340094.3_Missense_Mutation_p.G390R|TNC_ENST00000345230.3_Missense_Mutation_p.G390R|TNC_ENST00000535648.1_Missense_Mutation_p.G390R|TNC_ENST00000346706.3_Missense_Mutation_p.G390R|TNC_ENST00000537320.1_Missense_Mutation_p.G390R|TNC_ENST00000542877.1_Missense_Mutation_p.G390R	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	390	EGF-like 8.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCACACCGCCCGTCTACACAG	0.587000													33	104					0	0	0.183431	0	0
CDH10	1008	broad.mit.edu	37	5	24498580	24498580	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr5:24498580T>A	ENST00000264463.4	-	9	1949	c.1442A>T	c.(1441-1443)gAt>gTt	p.D481V	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	481	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTCATTAACATCCAAAATTCT	0.408000										HNSCC(23;0.051)			33	238					0	0	0.183431	0	0
IFT172	26160	broad.mit.edu	37	2	27668659	27668659	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:27668659T>C	ENST00000260570.3	-	45	4970	c.4867A>G	c.(4867-4869)Aca>Gca	p.T1623A	KRTCAP3_ENST00000543753.1_Intron	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1623					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GGAATGTCTGTATCCTGAAAA	0.542000													48	118					0	0	0.139131	0	0
MNS1	55329	broad.mit.edu	37	15	56748614	56748614	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr15:56748614T>C	ENST00000260453.3	-	3	495	c.331A>G	c.(331-333)Agg>Ggg	p.R111G		NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	111	Glu-rich.				meiosis					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		ACTTGTTGCCTCATCTTTTCG	0.333000													3	95					0	0	0.115264	0	0
OR4C46	119749	broad.mit.edu	37	11	51515476	51515476	+	Silent	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:51515476C>T	ENST00000328188.1	+	1	195	c.195C>T	c.(193-195)tcC>tcT	p.S65S		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CCTATCTCTCCTTTATTGATG	0.478000													87	287					0	0	0.139131	0	0
FIZ1	84922	broad.mit.edu	37	19	56104586	56104586	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:56104586C>A	ENST00000221665.3	-	3	810	c.721G>T	c.(721-723)Gcg>Tcg	p.A241S		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding	p.A241S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TCCAGCAGCGCGGGCGCGTTG	0.776000													8	10					1.12685e-05	1.18679e-05	0.047766	1	0
KIF5B	3799	broad.mit.edu	37	10	32326241	32326241	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr10:32326241G>C	ENST00000302418.4	-	8	1109	c.652C>G	c.(652-654)Caa>Gaa	p.Q218E		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	218	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TGTTCCGTTTGTGTGTTCTCT	0.313000			T	"""RET, ALK"""	NSCLC								10	120					0	0	0.058154	0	0
ACTL6A	86	broad.mit.edu	37	3	179291189	179291189	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr3:179291189G>A	ENST00000429709.2	+	4	523	c.310G>A	c.(310-312)Gat>Aat	p.D104N	ACTL6A_ENST00000450518.2_Missense_Mutation_p.D62N|ACTL6A_ENST00000392662.1_Missense_Mutation_p.D62N	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	104					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			AGCTATTTTGGATCATACCTA	0.358000													40	98					0	0	0.117977	0	0
OR51B2	79345	broad.mit.edu	37	11	5344959	5344959	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:5344959A>C	ENST00000328813.2	-	1	623	c.569T>G	c.(568-570)aTa>aGa	p.I190R	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTGAAAGTTATGTCAGCACA	0.353000													25	48					0	0	0.083992	0	0
AKT3	10000	broad.mit.edu	37	1	243716166	243716166	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:243716166C>A	ENST00000366539.1	-	11	1228	c.1028G>T	c.(1027-1029)aGg>aTg	p.R343M	AKT3_ENST00000336199.5_Missense_Mutation_p.R343M|AKT3_ENST00000366540.1_Missense_Mutation_p.R343M|AKT3_ENST00000263826.5_Missense_Mutation_p.R343M			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	343	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			GAAAGGTAACCTCCCACACAT	0.383000													49	275					1.11015e-26	1.22799e-26	0.139131	1	0
STX1A	6804	broad.mit.edu	37	7	73115164	73115164	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr7:73115164T>A	ENST00000222812.3	-	9	711	c.685A>T	c.(685-687)Atg>Ttg	p.M229L	STX1A_ENST00000395155.3_Missense_Mutation_p.D259V|STX1A_ENST00000484736.1_5'UTR|WBSCR22_ENST00000423166.2_Intron|STX1A_ENST00000395154.3_3'UTR|STX1A_ENST00000395156.3_Intron	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	229	t-SNARE coiled-coil homology.				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGTCAATCATCTCTCCCTGC	0.627000													13	23					0	0	0.119110	0	0
NETO1	81832	broad.mit.edu	37	18	70423379	70423379	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr18:70423379G>T	ENST00000327305.6	-	8	1529	c.872C>A	c.(871-873)cCt>cAt	p.P291H	NETO1_ENST00000299430.2_Missense_Mutation_p.P290H|NETO1_ENST00000583169.1_Missense_Mutation_p.P291H	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	291	LDL-receptor class A.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GCCTTCACAAGGAGCTAAAAA	0.333000													29	50					4.87955e-14	5.27952e-14	0.108266	1	0
CNTROB	116840	broad.mit.edu	37	17	7836476	7836476	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:7836476C>T	ENST00000380262.3	+	1	1004	c.79C>T	c.(79-81)Ctc>Ttc	p.L27F	CNTROB_ENST00000563694.1_Missense_Mutation_p.L27F|CNTROB_ENST00000565740.1_Missense_Mutation_p.L27F|CNTROB_ENST00000380255.3_Missense_Mutation_p.L27F	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	27					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				ACCCCCTGGGCTCAACCAAGT	0.597000													163	127					0	0	0.139131	0	0
TBXA2R	6915	broad.mit.edu	37	19	3600302	3600302	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:3600302C>T	ENST00000375190.4	-	2	724	c.331G>A	c.(331-333)Gtc>Atc	p.V111I	TBXA2R_ENST00000411851.3_Missense_Mutation_p.V111I|TBXA2R_ENST00000589966.1_Missense_Mutation_p.V111I	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	111					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	AAGATCATGACGACGCCCATG	0.692000													13	23					0	0	0.093190	0	0
KMT2D	8085	broad.mit.edu	37	12	49420409	49420409	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr12:49420409G>A	ENST00000301067.7	-	48	15339	c.15340C>T	c.(15340-15342)Cat>Tat	p.H5114Y		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CAAGCAAAATGGTAGACATTG	0.557000													35	90					0	0	0.183431	0	0
TRPM6	140803	broad.mit.edu	37	9	77397710	77397710	+	Silent	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr9:77397710C>T	ENST00000451710.3	-	22	3216	c.2979G>A	c.(2977-2979)gtG>gtA	p.V993V	TRPM6_ENST00000449912.2_Silent_p.V988V|TRPM6_ENST00000376864.4_Silent_p.V993V|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.V988V|TRPM6_ENST00000360774.1_Silent_p.V993V			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	993					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCTTGCGTGCCACTCCAAAGC	0.438000													33	33					0	0	0.153744	0	0
ANKRD36	375248	broad.mit.edu	37	2	97779626	97779626	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:97779626C>G	ENST00000420699.2	+	1	394	c.150C>G	c.(148-150)taC>taG	p.Y50*	ANKRD36_ENST00000461153.2_Nonsense_Mutation_p.Y50*	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	50								p.Y50*(2)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AACTGAAGTACCTTCTGCTCA	0.517000													29	56					0	0	0.116897	0	0
FAM26E	254228	broad.mit.edu	37	6	116833202	116833202	+	Missense_Mutation	SNP	C	C	A	rs11539385		TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:116833202C>A	ENST00000368599.3	+	1	394	c.343C>A	c.(343-345)Ctt>Att	p.L115I	TRAPPC3L_ENST00000368602.3_Intron|TRAPPC3L_ENST00000356128.4_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	115						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		AGTGATGTGGCTTTCTGTGGC	0.512000													4	92					0.150653	0.152971	0.150653	1	0
ZFHX4	79776	broad.mit.edu	37	8	77617964	77617964	+	Silent	SNP	T	T	C	rs74886598		TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr8:77617964T>C	ENST00000521891.2	+	2	2089	c.1641T>C	c.(1639-1641)agT>agC	p.S547S	ZFHX4_ENST00000518282.1_Silent_p.S547S|ZFHX4_ENST00000050961.6_Silent_p.S547S|ZFHX4_ENST00000455469.2_Silent_p.S547S|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	547						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCAGTGGCAGTGTTGCTAGTA	0.488000										HNSCC(33;0.089)			6	31					0	0	0.069234	0	0
LRP1B	53353	broad.mit.edu	37	2	141083449	141083449	+	Splice_Site	SNP	T	T	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:141083449T>A	ENST00000389484.3	-	80	13195		c.e80-2			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						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)		CAGCCAAACCTGCAAAATCAA	0.348000										TSP Lung(27;0.18)			19	35					0	0	0.175082	0	0
FBXO8	26269	broad.mit.edu	37	4	175160279	175160279	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr4:175160279G>A	ENST00000393674.2	-	5	1500	c.638C>T	c.(637-639)gCa>gTa	p.A213V	FBXO8_ENST00000503293.1_Missense_Mutation_p.A172V	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	213	SEC7.				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		TTCTCTCAGTGCATTTGGCAA	0.378000													17	80					0	0	0.175082	0	0
MPP2	4355	broad.mit.edu	37	17	41958711	41958711	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:41958711G>A	ENST00000269095.4	-	8	1124	c.820C>T	c.(820-822)Cat>Tat	p.H274Y	MPP2_ENST00000523501.1_Missense_Mutation_p.H263Y|MPP2_ENST00000377184.3_Missense_Mutation_p.H291Y|MPP2_ENST00000520305.1_Missense_Mutation_p.H135Y|MPP2_ENST00000461854.1_Missense_Mutation_p.H298Y|MPP2_ENST00000518766.1_Missense_Mutation_p.H319Y|MPP2_ENST00000536246.1_Missense_Mutation_p.H263Y	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	298	SH3.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CCTTCGACATGGCATGCCTAA	0.597000											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	111	59					0	0	0.139131	0	0
RAD9B	144715	broad.mit.edu	37	12	110968353	110968353	+	Silent	SNP	A	A	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr12:110968353A>G	ENST00000409246.1	+	11	1258	c.933A>G	c.(931-933)gcA>gcG	p.A311A	RAD9B_ENST00000392672.4_Silent_p.A383A|RAD9B_ENST00000409778.3_Intron|RAD9B_ENST00000409425.1_Silent_p.A311A|RAD9B_ENST00000409300.1_Silent_p.A383A			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	380					cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						TCTTTGGAGCAGTTTCTTCTG	0.433000													36	127					0	0	0.086207	0	0
CDH2	1000	broad.mit.edu	37	18	25585828	25585828	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr18:25585828C>G	ENST00000269141.3	-	6	1255	c.832G>C	c.(832-834)Gag>Cag	p.E278Q	CDH2_ENST00000399380.3_Missense_Mutation_p.E247Q	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	278	Cadherin 2.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTGATCCCTCAGGAACTGTC	0.388000													48	116					0	0	0.139131	0	0
BAI3	577	broad.mit.edu	37	6	69703805	69703805	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:69703805C>A	ENST00000370598.1	+	11	2701	c.1880C>A	c.(1879-1881)aCa>aAa	p.T627K		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	627					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGAAATGTGACAGACACATTT	0.443000													46	122					1.17475e-09	1.25054e-09	0.139131	1	0
FTSJ3	117246	broad.mit.edu	37	17	61903471	61903471	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:61903471G>A	ENST00000427159.2	-	5	890	c.245C>T	c.(244-246)cCt>cTt	p.P82L		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	82					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						ATTGGGGAGAGGCTTGATTGG	0.468000													130	98					0	0	0.139131	0	0
SZT2	23334	broad.mit.edu	37	1	43908207	43908207	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:43908207A>T	ENST00000562955.1	+	57	7898	c.7898A>T	c.(7897-7899)cAt>cTt	p.H2633L	SZT2_ENST00000372442.1_Missense_Mutation_p.H1791L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2690						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCACGAGCCCATCTCATCTTC	0.587000													53	114					0	0	0.139131	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													3	79					0	0	0.115264	0	0
VPS13D	55187	broad.mit.edu	37	1	12423152	12423152	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:12423152A>T	ENST00000358136.3	+	52	10427	c.10297A>T	c.(10297-10299)Att>Ttt	p.I3433F	VPS13D_ENST00000356315.4_Missense_Mutation_p.I3408F	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3432					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CGAAGGTTACATTTCCACCCT	0.448000													82	204					0	0	0.139131	0	0
ABCA12	26154	broad.mit.edu	37	2	215976352	215976352	+	Missense_Mutation	SNP	C	C	T	rs113648834		TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:215976352C>T	ENST00000272895.7	-	2	350	c.131G>A	c.(130-132)cGg>cAg	p.R44Q	ABCA12_ENST00000412081.1_Missense_Mutation_p.R44Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	44					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AAATTTGGTCCGAGTAATAGC	0.299000													29	89					0	0	0.163468	0	0
ROPN1	54763	broad.mit.edu	37	3	123695771	123695771	+	Silent	SNP	T	T	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr3:123695771T>C	ENST00000184183.4	-	4	514	c.174A>G	c.(172-174)cgA>cgG	p.R58R	ROPN1_ENST00000405845.3_Silent_p.R58R	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	58					signal transduction		cAMP-dependent protein kinase regulator activity			lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		ACAAAGCGACTCGCTCAGACC	0.517000													44	106					0	0	0.139131	0	0
NCOA1	8648	broad.mit.edu	37	2	24905933	24905933	+	Silent	SNP	C	C	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:24905933C>G	ENST00000405141.1	+	9	1179	c.468C>G	c.(466-468)gtC>gtG	p.V156V	NCOA1_ENST00000538539.1_Silent_p.V156V|NCOA1_ENST00000407230.1_Silent_p.V5V|NCOA1_ENST00000406961.1_Silent_p.V156V|NCOA1_ENST00000395856.3_Silent_p.V156V|NCOA1_ENST00000348332.3_Silent_p.V156V|NCOA1_ENST00000288599.5_Silent_p.V156V			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	156	PAS.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATACGAGCGTCTACAGCATAC	0.373000			T	PAX3	alveolar rhadomyosarcoma								27	84					0	0	0.099896	0	0
SUPT16H	11198	broad.mit.edu	37	14	21831284	21831284	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr14:21831284G>A	ENST00000216297.2	-	13	1758	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	474					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TGTGCTCTTCGCTTCTCTTCT	0.398000													58	171					0	0	0.139131	0	0
LPHN2	23266	broad.mit.edu	37	1	82436053	82436053	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:82436053C>A	ENST00000370728.1	+	18	3422	c.2777C>A	c.(2776-2778)gCt>gAt	p.A926D	LPHN2_ENST00000370721.1_Missense_Mutation_p.A851D|LPHN2_ENST00000370717.2_Missense_Mutation_p.A926D|LPHN2_ENST00000370713.1_Missense_Mutation_p.A913D|LPHN2_ENST00000370727.1_Missense_Mutation_p.A926D|LPHN2_ENST00000370723.1_Missense_Mutation_p.A913D|LPHN2_ENST00000359929.3_Missense_Mutation_p.A913D|LPHN2_ENST00000370730.1_Missense_Mutation_p.A926D|LPHN2_ENST00000271029.4_Missense_Mutation_p.A926D|LPHN2_ENST00000335786.5_Missense_Mutation_p.A926D|LPHN2_ENST00000370715.1_Missense_Mutation_p.A913D|LPHN2_ENST00000394879.1_Missense_Mutation_p.A913D|LPHN2_ENST00000319517.6_Missense_Mutation_p.A913D|LPHN2_ENST00000370725.1_Missense_Mutation_p.A926D|LPHN2_ENST00000469377.2_Intron			O95490	LPHN2_HUMAN	latrophilin 2	926					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GCAGCTTTTGCTTGGATGTGC	0.358000													67	230					6.52717e-41	7.34307e-41	0.139131	1	0
CREBBP	1387	broad.mit.edu	37	16	3786099	3786099	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr16:3786099G>C	ENST00000262367.5	-	28	5475	c.4666C>G	c.(4666-4668)Cta>Gta	p.L1556V	CREBBP_ENST00000382070.3_Missense_Mutation_p.L1518V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1556	Interaction with TRERF1.|Poly-Glu.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCTTGTTCTAGTTCCTTAATG	0.478000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						50	107					0	0	0.139131	0	0
MCM3	4172	broad.mit.edu	37	6	52129395	52129395	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:52129395G>T	ENST00000596288.1	-	17	2580	c.2553C>A	c.(2551-2553)ttC>ttA	p.F851L	MCM3_ENST00000229854.7_Missense_Mutation_p.F806L|MCM3_ENST00000419835.2_Missense_Mutation_p.F760L	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	806					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CTCAGATGAGGAAGATGATGC	0.542000													36	112					3.62531e-18	3.94402e-18	0.069456	1	0
NLRP13	126204	broad.mit.edu	37	19	56422072	56422072	+	Silent	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:56422072G>A	ENST00000588751.1	-	6	2163	c.2139C>T	c.(2137-2139)caC>caT	p.H713H	NLRP13_ENST00000342929.3_Silent_p.H713H			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	713							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGTTCCATGCGTGCATCCTGG	0.463000													44	129					0	0	0.124865	0	0
KLHL1	57626	broad.mit.edu	37	13	70535475	70535475	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr13:70535475T>A	ENST00000377844.4	-	3	1541	c.782A>T	c.(781-783)aAt>aTt	p.N261I	KLHL1_ENST00000545028.1_Missense_Mutation_p.N68I	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	261	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCAGAGAGCATTGGGGTCTAT	0.383000													44	55					0	0	0.139131	0	0
ASCC3	10973	broad.mit.edu	37	6	101037629	101037629	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:101037629C>T	ENST00000369162.2	-	36	5775	c.5431G>A	c.(5431-5433)Gaa>Aaa	p.E1811K		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTTAGAGGTTCAATGCTGCGA	0.343000													61	160					0	0	0.139131	0	0
MYH4	4622	broad.mit.edu	37	17	10356164	10356164	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:10356164G>A	ENST00000255381.2	-	25	3307	c.3197C>T	c.(3196-3198)gCc>gTc	p.A1066V	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1066					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGATTCTTGGGCCAATTTTAG	0.363000													143	145					0	0	0.139131	0	0
KDM2A	22992	broad.mit.edu	37	11	66985219	66985219	+	Silent	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:66985219C>T	ENST00000529006.2	+	9	1151	c.705C>T	c.(703-705)ccC>ccT	p.P235P	KDM2A_ENST00000526258.1_Intron|KDM2A_ENST00000398645.2_Silent_p.P235P	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	235	JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GGCTCATCCCCCCTACAGCCC	0.483000													5	39					0	0	0.021553	0	0
CHD4	1108	broad.mit.edu	37	12	6690898	6690898	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr12:6690898G>A	ENST00000309577.6	-	30	4845	c.4682C>T	c.(4681-4683)cCa>cTa	p.P1561L	CHD4_ENST00000357008.2_Missense_Mutation_p.P1533L|CHD4_ENST00000544484.1_Missense_Mutation_p.P1558L|CHD4_ENST00000544040.1_Missense_Mutation_p.P1526L|RP5-940J5.6_ENST00000501075.2_RNA			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1533					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GGGTGACCCTGGCTGGGACAT	0.562000													66	154					0	0	0.139131	0	0
DIO1	1733	broad.mit.edu	37	1	54370406	54370406	+	Silent	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:54370406G>A	ENST00000361921.3	+	2	429	c.405G>A	c.(403-405)caG>caA	p.Q135Q	DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Intron|DIO1_ENST00000525202.1_Silent_p.Q71Q|DIO1_ENST00000524406.1_Silent_p.Q6Q|DIO1_ENST00000388876.3_Intron|DIO1_ENST00000322679.6_Silent_p.Q135Q	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	135					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						AATTTGACCAGTTCAAGAGGC	0.393000													102	209					0	0	0.139131	0	0
SPEG	10290	broad.mit.edu	37	2	220354645	220354645	+	Silent	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:220354645C>T	ENST00000312358.7	+	36	9037	c.8905C>T	c.(8905-8907)Ctg>Ttg	p.L2969L	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2969	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.L2969M(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTACACCTTCCTGGAGGAGAA	0.612000													19	55					0	0	0.055883	0	0
TIRAP	114609	broad.mit.edu	37	11	126162997	126162997	+	Silent	SNP	A	A	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:126162997A>T	ENST00000392678.3	+	5	1122	c.693A>T	c.(691-693)gtA>gtT	p.V231V	TIRAP_ENST00000392680.2_Intron|RP11-712L6.7_ENST00000533378.1_RNA|TIRAP_ENST00000392679.1_Intron	NM_148910.2	NP_683708.1	P58753	TIRAP_HUMAN	toll-interleukin 1 receptor (TIR) domain containing adaptor protein	100					3'-UTR-mediated mRNA stabilization|cellular response to bacterial lipopeptide|cellular response to lipoteichoic acid|defense response to Gram-positive bacterium|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|myeloid cell differentiation|negative regulation of growth of symbiont in host|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 1 production|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-12 production|positive regulation of interleukin-15 production|positive regulation of interleukin-6 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein homodimerization activity|positive regulation of toll-like receptor 2 signaling pathway|positive regulation of toll-like receptor 3 signaling pathway|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|regulation of interferon-beta production|response to lipopolysaccharide|TIRAP-dependent toll-like receptor 4 signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway	endocytic vesicle|intrinsic to membrane|ruffle membrane	phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|protein heterodimerization activity|protein homodimerization activity|protein kinase C delta binding|Toll-like receptor 2 binding|Toll-like receptor 4 binding|transmembrane receptor activity			breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)		CAGCTACAGTATCTGATCTAC	0.512000													16	24					0	0	0.132662	0	0
MAN1B1	11253	broad.mit.edu	37	9	139990687	139990687	+	Splice_Site	SNP	A	A	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr9:139990687A>C	ENST00000371589.4	+	4	538		c.e4-1		MAN1B1_ENST00000474902.1_Splice_Site	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1						oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		ATTTCTCTACAGAAGACACAA	0.567000													8	22					0	0	0.069288	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94645394	94645394	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:94645394C>G	ENST00000260526.6	-	20	2549	c.2367G>C	c.(2365-2367)tgG>tgC	p.W789C	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	789	Rho-GAP.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ACATATTTGGCCATTTTTTGT	0.308000													30	123					0	0	0.116897	0	0
PAPOLB	56903	broad.mit.edu	37	7	4900071	4900071	+	Silent	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr7:4900071G>A	ENST00000404991.1	-	1	1554	c.1368C>T	c.(1366-1368)ctC>ctT	p.L456L	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	456					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TATCATAGGTGAGATCAATGC	0.363000													92	122					0	0	0.139131	0	0
SIGLECL1	284369	broad.mit.edu	37	19	51768727	51768727	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:51768727G>A	ENST00000316401.7	+	3	509	c.128G>A	c.(127-129)gGa>gAa	p.G43E	SIGLECL1_ENST00000597824.1_Intron|SIGLECL1_ENST00000593968.1_Intron|CTD-3187F8.2_ENST00000597569.1_RNA	NM_173635.1	NP_775906.1			SIGLEC family like 1																		TGGATGGGAGGAGTCCCCGTG	0.577000													46	85					0	0	0.139131	0	0
ZNF778	197320	broad.mit.edu	37	16	89293174	89293174	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr16:89293174C>T	ENST00000433976.2	+	6	726	c.394C>T	c.(394-396)Ctc>Ttc	p.L132F	ZNF778_ENST00000306502.6_Missense_Mutation_p.L90F	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		ACACTCAGGCCTCAGCACACA	0.463000													15	37					0	0	0.119110	0	0
PIGN	23556	broad.mit.edu	37	18	59777191	59777191	+	Silent	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr18:59777191G>A	ENST00000357637.5	-	17	1865	c.1450C>T	c.(1450-1452)Ctg>Ttg	p.L484L	PIGN_ENST00000400334.3_Silent_p.L484L	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	484					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				CTACAAGGCAGGAGATGGCTT	0.343000													3	66					0	0	0.115264	0	0
MFHAS1	9258	broad.mit.edu	37	8	8750418	8750418	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr8:8750418G>A	ENST00000276282.6	-	1	737	c.151C>T	c.(151-153)Ccc>Tcc	p.P51S		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	51										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GGGGAGGCGGGGGACTCGAGC	0.746000													3	6					0	0	0.150653	0	0
TM4SF1	4071	broad.mit.edu	37	3	149089577	149089577	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr3:149089577G>A	ENST00000472441.1	-	2	347	c.224C>T	c.(223-225)tCt>tTt	p.S75F	TM4SF1_ENST00000305366.3_Missense_Mutation_p.S164F			P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	164						integral to plasma membrane		p.S164C(1)		endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CAAGAGGATAGAAAACAGAGA	0.433000													46	90					0	0	0.111260	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													5	64					0	0	0.014758	0	0
ZNF578	147660	broad.mit.edu	37	19	53015012	53015012	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:53015012T>G	ENST00000421239.2	+	6	1622	c.1378T>G	c.(1378-1380)Tgt>Ggt	p.C460G	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATGTGAAGAATGTGACAGAGT	0.378000													24	77					0	0	0.091800	0	0
HIVEP1	3096	broad.mit.edu	37	6	12015862	12015862	+	Translation_Start_Site	SNP	A	A	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:12015862A>T	ENST00000379388.2	+	2	333	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	HIVEP1_ENST00000484210.1_Start_Codon_SNP_p.M1L	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTCAAAGAAGATGCCTCGAAC	0.358000													33	103					0	0	0.183431	0	0
WDR12	55759	broad.mit.edu	37	2	203760839	203760839	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:203760839T>A	ENST00000261015.3	-	6	1307	c.558A>T	c.(556-558)agA>agT	p.R186S		NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	186	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						CAGCATGACCTCTACAGCAGT	0.378000													53	129					0	0	0.139131	0	0
TBC1D8	11138	broad.mit.edu	37	2	101627939	101627939	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:101627939C>G	ENST00000409318.1	-	18	3021	c.2891G>C	c.(2890-2892)aGa>aCa	p.R964T	TBC1D8_ENST00000376840.4_Missense_Mutation_p.R949T|RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409028.4_Intron|RPL31_ENST00000409650.1_Intron	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	949					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						AACCAGGGGTCTCGATGTTGA	0.483000													42	79					0	0	0.139131	0	0
ZMYM2	7750	broad.mit.edu	37	13	20656229	20656229	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr13:20656229A>G	ENST00000382869.3	+	22	3778	c.3527A>G	c.(3526-3528)aAt>aGt	p.N1176S	ZMYM2_ENST00000382874.2_Missense_Mutation_p.N1176S|ZMYM2_ENST00000382871.2_Missense_Mutation_p.N1176S|ZMYM2_ENST00000494061.1_3'UTR|ZMYM2_ENST00000382870.2_Missense_Mutation_p.N556S	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CAAGAATTGAATAAAATACTG	0.328000													16	15					0	0	0.160694	0	0
MYH7	4625	broad.mit.edu	37	14	23884668	23884668	+	Silent	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr14:23884668G>A	ENST00000355349.3	-	36	5367	c.5205C>T	c.(5203-5205)tcC>tcT	p.S1735S	CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1735					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCTGGAGCTGGGACAGGTCAG	0.557000													46	125					0	0	0.139131	0	0
SRPX	8406	broad.mit.edu	37	X	38024064	38024064	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chrX:38024064T>A	ENST00000378533.3	-	5	717	c.611A>T	c.(610-612)gAg>gTg	p.E204V	SRPX_ENST00000343800.6_Missense_Mutation_p.E191V|SRPX_ENST00000432886.2_Missense_Mutation_p.E145V|SRPX_ENST00000544439.1_Missense_Mutation_p.E184V|SRPX_ENST00000538295.1_Missense_Mutation_p.E204V|TM4SF2_ENST00000465127.1_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	204	HYR.				cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						TTCGGGTGTCTCCCAGGACAC	0.433000													5	34					0	0	0.014758	0	0
TNFRSF6B	8771	broad.mit.edu	37	20	62329691	62329691	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr20:62329691C>G	ENST00000369996.1	+	3	778	c.678C>G	c.(676-678)atC>atG	p.I226M	RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	226					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			ACATCTCCATCAAGAGGCTGC	0.672000													11	43					0	0	0.069234	0	0
LAIR2	3904	broad.mit.edu	37	19	55020273	55020273	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:55020273C>A	ENST00000301202.2	+	4	515	c.393C>A	c.(391-393)gaC>gaA	p.D131E	LAIR2_ENST00000351841.2_Intron	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	131						extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		ACTCCCCGGACACAGAGCCCG	0.632000													20	53					1.42536e-11	1.53381e-11	0.099896	1	0
RP11-386G11.10	0	broad.mit.edu	37	12	49525193	49525193	+	RNA	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr12:49525193G>A	ENST00000547712.1	+	0	211																											CGGGGCCGGCGCTGGAGCCTC	0.721000													6	4					0	0	0.021553	0	0
PTEN	5728	broad.mit.edu	37	10	89711893	89711893	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr10:89711893C>T	ENST00000371953.3	+	6	1868	c.511C>T	c.(511-513)Cag>Tag	p.Q171*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	171	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.Q171*(9)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Q171E(2)|p.Q171K(1)|p.V166fs*10(1)|p.G165_*404del(1)|p.S170_Q171del(1)|p.S170fs*8(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATTCCCAGTCAGAGGCGCTA	0.353000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			70	105					0	0	0.139131	0	0
ATP13A4	84239	broad.mit.edu	37	3	193220338	193220338	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr3:193220338G>C	ENST00000342695.4	-	3	647	c.325C>G	c.(325-327)Ctc>Gtc	p.L109V	ATP13A4_ENST00000295548.3_Missense_Mutation_p.L109V|ATP13A4_ENST00000392443.3_Missense_Mutation_p.L109V	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	109					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TCTGTCATGAGAGGGTGGTCA	0.398000													60	122					0	0	0.139131	0	0
MRPL41	64975	broad.mit.edu	37	9	140446898	140446898	+	Missense_Mutation	SNP	C	C	A	rs3210506		TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr9:140446898C>A	ENST00000371443.5	+	2	1153	c.365C>A	c.(364-366)aCa>aAa	p.T122K		NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	122					apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		TTCGAGCCCACACAGGAGGGA	0.592000													4	76					0.00024832	0.000260145	0.150653	1	0
ADD1	118	broad.mit.edu	37	4	2896318	2896318	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr4:2896318A>C	ENST00000355842.3	+	7	1464	c.601A>C	c.(601-603)Aat>Cat	p.N201H	ADD1_ENST00000398125.1_Missense_Mutation_p.N201H|ADD1_ENST00000264758.7_Missense_Mutation_p.N201H|ADD1_ENST00000398123.2_Missense_Mutation_p.N201H|ADD1_ENST00000398129.1_Missense_Mutation_p.N201H|ADD1_ENST00000446856.1_Missense_Mutation_p.N201H|ADD1_ENST00000503455.2_Missense_Mutation_p.N201H|ADD1_ENST00000513328.2_Missense_Mutation_p.N201H			P35611	ADDA_HUMAN	adducin 1 (alpha)	201					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGTTAAGATCAATCTACAAGG	0.368000													16	30					0	0	0.160694	0	0
CELSR2	1952	broad.mit.edu	37	1	109795731	109795731	+	Silent	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:109795731C>T	ENST00000271332.3	+	1	3091	c.3030C>T	c.(3028-3030)caC>caT	p.H1010H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1010	Cadherin 8.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTACAGTCCACGTCCGCCTCC	0.577000													22	112					0	0	0.076483	0	0
XPR1	9213	broad.mit.edu	37	1	180805685	180805685	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:180805685A>G	ENST00000367590.4	+	11	1532	c.1334A>G	c.(1333-1335)tAt>tGt	p.Y445C	XPR1_ENST00000367589.3_Intron	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	445	EXS.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						AAATATACATATGGTGTGCGG	0.403000													35	91					0	0	0.183431	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99358174	99358174	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr4:99358174A>G	ENST00000408927.3	+	14	1764	c.1651A>G	c.(1651-1653)Atc>Gtc	p.I551V	RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.I552V|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.I503V|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.I502V|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.I551V|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.I460V	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	551							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TGCTCCTGAAATCAAATATAA	0.343000			T	NUP98	T-ALL								37	59					0	0	0.069456	0	0
HJURP	55355	broad.mit.edu	37	2	234749404	234749404	+	Silent	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:234749404C>T	ENST00000411486.2	-	8	2087	c.2022G>A	c.(2020-2022)agG>agA	p.R674R	HJURP_ENST00000441687.1_Silent_p.R589R|HJURP_ENST00000432087.1_Silent_p.R620R	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	674					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		ACTGATGGTCCCTCGTGCCAT	0.577000													48	107					0	0	0.139131	0	0
FAM90A1	55138	broad.mit.edu	37	12	8376719	8376719	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr12:8376719G>C	ENST00000538603.1	-	5	774	c.216C>G	c.(214-216)aaC>aaG	p.N72K	FAM90A1_ENST00000307435.6_Missense_Mutation_p.N72K	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	72							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TTTCCCCAAAGTTCGGTGGAA	0.547000													79	164					0	0	0.139131	0	0
CSMD3	114788	broad.mit.edu	37	8	113697694	113697694	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr8:113697694C>T	ENST00000297405.5	-	15	2667	c.2423G>A	c.(2422-2424)cGa>cAa	p.R808Q	CSMD3_ENST00000352409.3_Missense_Mutation_p.R808Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R768Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R704Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	808	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAATTCCAATCGCAGTATGTG	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			36	97					0	0	0.074837	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24971270	24971270	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr16:24971270T>G	ENST00000289968.6	-	8	673	c.604A>C	c.(604-606)Atg>Ctg	p.M202L	ARHGAP17_ENST00000441763.2_Missense_Mutation_p.M202L|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.M202L|ARHGAP17_ENST00000575975.1_5'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	202	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TCTTTGGCCATAAAGTTGTAC	0.363000													35	106					0	0	0.086207	0	0
PDZD2	23037	broad.mit.edu	37	5	32058193	32058193	+	Silent	SNP	A	A	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr5:32058193A>G	ENST00000438447.1	+	12	2572	c.2184A>G	c.(2182-2184)gaA>gaG	p.E728E	PDZD2_ENST00000282493.3_Silent_p.E728E			O15018	PDZD2_HUMAN	PDZ domain containing 2	728	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCGTCATGGAAGTAACACTCA	0.468000													10	102					0	0	0.080935	0	0
KATNAL1	84056	broad.mit.edu	37	13	30801627	30801627	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr13:30801627C>T	ENST00000380615.3	-	9	1236	c.1069G>A	c.(1069-1071)Gct>Act	p.A357T	KATNAL1_ENST00000380617.3_Missense_Mutation_p.A357T	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	357						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		AAATTAGTAGCAGCCAATACC	0.378000													20	43					0	0	0.069288	0	0
CDH10	1008	broad.mit.edu	37	5	24498538	24498538	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr5:24498538G>T	ENST00000264463.4	-	9	1991	c.1484C>A	c.(1483-1485)aCt>aAt	p.T495N	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	495	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ACATACAAAAGTGTCATAGAA	0.393000										HNSCC(23;0.051)			27	232					4.22769e-11	4.52478e-11	0.116897	1	0
FMN2	56776	broad.mit.edu	37	1	240493929	240493929	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:240493929G>A	ENST00000319653.9	+	11	4694	c.4464G>A	c.(4462-4464)atG>atA	p.M1488I	FMN2_ENST00000545751.1_Missense_Mutation_p.M84I	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1488	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGGGGTTATGCAGGTTCTAG	0.388000													27	106					0	0	0.144211	0	0
SPAG17	200162	broad.mit.edu	37	1	118640342	118640342	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:118640342A>T	ENST00000336338.5	-	7	1027	c.962T>A	c.(961-963)aTg>aAg	p.M321K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	321						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TGCTTTGACCATGTACTCAAG	0.408000													33	75					0	0	0.064281	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000													2	11					0	0	0.115264	0	0
DRAM1	55332	broad.mit.edu	37	12	102295157	102295157	+	Silent	SNP	T	T	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr12:102295157T>C	ENST00000258534.8	+	3	727	c.288T>C	c.(286-288)tcT>tcC	p.S96S	DRAM1_ENST00000544152.1_Silent_p.S96S	NM_018370.2	NP_060840.2	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	96					apoptosis|autophagy	integral to membrane|lysosomal membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						ACTTGGTGTCTTTAGTGCTTG	0.408000													23	85					0	0	0.099896	0	0
NPAP1	23742	broad.mit.edu	37	15	24922597	24922597	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr15:24922597C>T	ENST00000329468.2	+	1	2057	c.1583C>T	c.(1582-1584)tCc>tTc	p.S528F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCTCCTCTTTCCTTCCTGACT	0.532000													99	293					0	0	0.139131	0	0
COL6A1	1291	broad.mit.edu	37	21	47410318	47410318	+	Silent	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr21:47410318C>T	ENST00000361866.3	+	13	1098	c.984C>T	c.(982-984)gaC>gaT	p.D328D		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	328	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GTGGCATCGACGGGGTGGACG	0.647000													19	56					0	0	0.062417	0	0
OR56A3	390083	broad.mit.edu	37	11	5969347	5969347	+	Silent	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:5969347C>T	ENST00000329564.6	+	1	778	c.771C>T	c.(769-771)acC>acT	p.T257T		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T257T(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTCAGCACCATCCTTCTGG	0.527000													65	227					0	0	0.139131	0	0
ECM1	1893	broad.mit.edu	37	1	150483454	150483454	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:150483454G>A	ENST00000369047.4	+	6	613	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Missense_Mutation_p.R163Q|ECM1_ENST00000369049.4_Missense_Mutation_p.R190Q	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	163	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGGGGCCACCGGCTGGATGGC	0.607000													125	189					0	0	0.139131	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68249583	68249583	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr14:68249583G>A	ENST00000347230.4	-	21	4424	c.4286C>T	c.(4285-4287)gCc>gTc	p.A1429V	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A1429V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1429					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GAGCTGAAGGGCCCGGGACCA	0.532000													80	226					0	0	0.139131	0	0
SETDB1	9869	broad.mit.edu	37	1	150935566	150935566	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:150935566A>G	ENST00000271640.5	+	19	3598	c.3408A>G	c.(3406-3408)atA>atG	p.I1136M	SETDB1_ENST00000368969.4_Missense_Mutation_p.I1136M	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1136	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCAGACCATATCCTCTGGCT	0.498000													26	82					0	0	0.099896	0	0
DNAH9	1770	broad.mit.edu	37	17	11550397	11550397	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:11550397C>A	ENST00000262442.3	+	12	2047	c.1979C>A	c.(1978-1980)aCa>aAa	p.T660K	DNAH9_ENST00000454412.2_Missense_Mutation_p.T660K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	660	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGTATGAGACAAGACTTTAT	0.478000													3	118					0.004672	0.00484323	0.115264	1	0
SNX4	8723	broad.mit.edu	37	3	125176125	125176125	+	Silent	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr3:125176125C>T	ENST00000251775.4	-	11	1053	c.1029G>A	c.(1027-1029)gaG>gaA	p.E343E	SNX4_ENST00000536067.1_Silent_p.E198E	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	343					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TTACCAGTTCCTCACACTGCT	0.458000													39	111					0	0	0.117977	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41736067	41736067	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr22:41736067C>T	ENST00000352645.4	+	10	1321	c.1064C>T	c.(1063-1065)tCg>tTg	p.S355L	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.S355L	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	371					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTGCCGTACTCGGAGACCCGG	0.652000													20	61					0	0	0.076483	0	0
NPAP1	23742	broad.mit.edu	37	15	24921512	24921512	+	Silent	SNP	G	G	A	rs35737140	byFrequency	TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr15:24921512G>A	ENST00000329468.2	+	1	972	c.498G>A	c.(496-498)ccG>ccA	p.P166P		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.P166P(1)									ATGAGGATCCGGTGCAGATCG	0.627000													3	74					0	0	0.115264	0	0
CYP2A13	1553	broad.mit.edu	37	19	41594389	41594389	+	Missense_Mutation	SNP	G	G	A	rs71579358		TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:41594389G>A	ENST00000330436.3	+	1	13	c.13G>A	c.(13-15)Ggg>Agg	p.G5R		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	5					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	GCTGGCCTCAGGGCTGCTTCT	0.557000													17	52					0	0	0.175082	0	0
CFAP221	200373	broad.mit.edu	37	2	120388230	120388230	+	Silent	SNP	C	C	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:120388230C>A	ENST00000602047.1	+	19	2070	c.958C>A	c.(958-960)Cga>Aga	p.R320R	PCDP1_ENST00000413369.3_Silent_p.R606R			Q4G0U5	PCDP1_HUMAN		606						cilium	calmodulin binding					Colorectal(110;0.196)					AAAGCTTGCCCGAGCCCTAAA	0.448000													26	60					7.88262e-20	8.62298e-20	0.083992	1	0
LINC00505	100874049	broad.mit.edu	37	1	46933689	46933692	+	RNA	DEL	ACAC	ACAC	-	rs3058443		TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:46933689_46933692delACAC	ENST00000455247.1	+	0	88																											TCTCTCTCTGacacacacacacac	0.475													3	3	---	---	---	---					
FAF1	11124	broad.mit.edu	37	1	51050366	51050367	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:51050366_51050367insT	ENST00000396153.2	-	10	1408_1409	c.957_958insA	c.(955-960)aactccfs	p.NS319fs	FAF1_ENST00000545823.1_Frame_Shift_Ins_p.NS77fs|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000371778.4_Frame_Shift_Ins_p.NS319fs	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	319					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CTCATTGGAGATTTTCTCAAGG	0.376													45	143	---	---	---	---					
PPAP2B	8613	broad.mit.edu	37	1	56990179	56990179	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:56990179delC	ENST00000371250.3	-	3	896	c.345delG	c.(343-345)cgfs	p.R115fs		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	115					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GAATCGTCGACCGCGACTTCT	0.483													30	100	---	---	---	---					
ALK	238	broad.mit.edu	37	2	30143057	30143058	+	Frame_Shift_Ins	INS	-	-	C	rs74774946		TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:30143057_30143058insC	ENST00000389048.3	-	1	1374_1375	c.468_469insG	c.(466-471)ggccccfs	p.GP156fs	ALK_ENST00000431873.1_Frame_Shift_Ins_p.GP156fs	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	156					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TCCCCGGGGGGCCCGACGCAAC	0.663			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				11	50	---	---	---	---					
UGT1A1	54658	broad.mit.edu	37	2	234669681	234669682	+	Frame_Shift_Ins	INS	-	-	GGACAGTCAC	rs57307513	byFrequency	TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:234669681_234669682insGGACAGTCAC	ENST00000360418.3	+	1	748_749	c.748_749insGGACAGTCAC	c.(748-750)tgcfs	p.C250fs	UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A1_ENST00000305208.5_Frame_Shift_Ins_p.C250fs|UGT1A8_ENST00000373450.4_Intron			P22309	UD11_HUMAN		250					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CCTATTGAGCTCTGCATCTGTC	0.470													24	276	---	---	---	---					
LINC00882	100302640	broad.mit.edu	37	3	106824710	106824711	+	RNA	DEL	TT	TT	-	rs139188639		TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr3:106824710_106824711delTT	ENST00000484698.1	-	0	295																											tttttatatctttttttttttt	0.450													3	5	---	---	---	---					
C6	729	broad.mit.edu	37	5	41160299	41160300	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr5:41160299_41160300delAC	ENST00000263413.3	-	11	1892_1893	c.1628_1629delGT	c.(1627-1629)tfs	p.C543fs	C6_ENST00000337836.5_Frame_Shift_Del_p.C543fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	543	EGF-like.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGCCACTCTGACACACACACAG	0.475													7	565	---	---	---	---					
SLC39A7	7922	broad.mit.edu	37	6	33171561	33171562	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:33171561_33171562insT	ENST00000374677.3	+	7	1754_1755	c.1381_1382insT	c.(1381-1383)gatfs	p.D461fs	SLC39A7_ENST00000463972.1_3'UTR|SLC39A7_ENST00000374675.3_Frame_Shift_Ins_p.D461fs	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	461				CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305).		endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GGGAGTTATCATGATGGTGCTG	0.569													23	114	---	---	---	---					
GPR115	221393	broad.mit.edu	37	6	47682289	47682290	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:47682289_47682290insT	ENST00000283303.2	+	6	1566_1567	c.1308_1309insT	c.(1306-1311)tcacatfs	p.H437fs	GPR115_ENST00000327753.3_Frame_Shift_Ins_p.H437fs|GPR115_ENST00000371220.1_Frame_Shift_Ins_p.H494fs	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	437					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CGGAGATATCATACATGCGTCA	0.485													89	241	---	---	---	---					
KLHL31	401265	broad.mit.edu	37	6	53516534	53516534	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:53516534delG	ENST00000370905.3	-	3	1907	c.1767delC	c.(1765-1767)ccfs	p.P589fs	KLHL31_ENST00000407079.1_Frame_Shift_Del_p.P589fs	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CGTTGAGCTCGGGGCTGAAGC	0.652											OREG0017507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	97	---	---	---	---					
TMEM106B	54664	broad.mit.edu	37	7	12263908	12263909	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr7:12263908_12263909insG	ENST00000396667.2	+	5	660_661	c.338_339insG	c.(337-339)gttfs	p.V113fs	TMEM106B_ENST00000396668.3_Frame_Shift_Ins_p.V113fs	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	113						integral to membrane				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		GGATTGGCTGTGTTTTTCCTTT	0.371													13	556	---	---	---	---					
OR5P2	120065	broad.mit.edu	37	11	7817968	7817969	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:7817968_7817969insA	ENST00000329434.2	-	1	551_552	c.521_522insT	c.(520-522)ttgfs	p.L174fs	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGAAATCACAGAAAAAATGATT	0.386													31	73	---	---	---	---					
OR6C65	403282	broad.mit.edu	37	12	55794772	55794773	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr12:55794772_55794773insT	ENST00000379665.2	+	1	559_560	c.460_461insT	c.(460-462)tttfs	p.F154fs		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TTTTCTCATTATTTTTCCCCCC	0.436													19	355	---	---	---	---					
LOC100507377	100507377	broad.mit.edu	37	12	74669120	74669120	+	RNA	DEL	T	T	-	rs35644413		TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr12:74669120delT	ENST00000515416.2	-	0	464				RP11-274M17.3_ENST00000552046.1_RNA																							TTTTTTGGGGTTTTTTTTTTT	0.308													3	2	---	---	---	---					
RASGRP1	10125	broad.mit.edu	37	15	38794593	38794594	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr15:38794593_38794594insT	ENST00000310803.5	-	12	1634_1635	c.1457_1458insA	c.(1456-1458)cgafs	p.R486fs	RASGRP1_ENST00000558164.1_Frame_Shift_Ins_p.R451fs|RASGRP1_ENST00000559830.1_Frame_Shift_Ins_p.R451fs|RASGRP1_ENST00000539159.1_Frame_Shift_Ins_p.R438fs|RASGRP1_ENST00000561180.1_Frame_Shift_Ins_p.R537fs|RASGRP1_ENST00000450598.2_Frame_Shift_Ins_p.R451fs	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	486	EF-hand 1.				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGTATCCATCCTGGTCGTGATC	0.391													17	29	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	by1000genomes	TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													5	4	---	---	---	---					
ACSF2	80221	broad.mit.edu	37	17	48540530	48540531	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:48540530_48540531insC	ENST00000427954.2	+	8	924_925	c.881_882insC	c.(880-882)accfs	p.T294fs	ACSF2_ENST00000502667.1_Frame_Shift_Ins_p.T256fs|ACSF2_ENST00000541920.1_Frame_Shift_Ins_p.T109fs|ACSF2_ENST00000300441.4_Frame_Shift_Ins_p.T269fs|ACSF2_ENST00000504392.1_Frame_Shift_Ins_p.T226fs			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	269					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			ACAACAGGCAGCCCCAAGGGGG	0.589													36	326	---	---	---	---					
RECQL5	9400	broad.mit.edu	37	17	73626918	73626919	+	Splice_Site	INS	-	-	TG	rs142406301	by1000genomes	TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:73626918_73626919insTG	ENST00000317905.5	-	12	1745		c.e12-1		RECQL5_ENST00000443199.2_Splice_Site|RECQL5_ENST00000423245.2_Splice_Site	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5						DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	p.?(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAGTTCTCATCTGTGGGGGGGG	0.644								Other identified genes with known or suspected DNA repair function					5	9	---	---	---	---					
